MedWorm.com provides a medical RSS filtering service. Over 6000 RSS medical sources are combined and output via different filters. This feed contains the latest items from the 'J Appl Genet' source. Mon, 06 Feb 2012 09:32:14 +0100 http://www.medworm.com/index.php?rid=5651007&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22293976%26dopt%3DAbstract Authors: Szczałuba K, Mierzewska H, Obersztyn E, Tryfon J, Bekiesińska-Figatowska M, Szczepanik E, Chrzanowska K, Bocian E PMID: 22293976 [PubMed - as supplied by publisher] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5651007 Wed, 01 Feb 2012 05:00:00 +0100 5651007 http://www.medworm.com/index.php?rid=5651014&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22281780%26dopt%3DAbstract This article presents organizational models of population biobanks in selected European countries. Review of bibliography and websites of European population biobanks (UK, Spain, Estonia). Some countries establish national genomic biobanks (DNA banks) in order to conduct research on new methods of prevention, diagnosis and treatment of the genetic and lifestyle diseases and on pharmacogenetic research. Individual countries have developed different organizational models of these institutions and specific legal regulations regarding various ways of obtaining genetic data from the inhabitants, donors' rights, organizational and legal aspects. Population biobanks in European countries were funded in different manners. In light of these solutions, the authors discuss prospects of establishing a... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5651014 Fri, 27 Jan 2012 05:00:00 +0100 5651014 http://www.medworm.com/index.php?rid=5617844&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22249998%26dopt%3DAbstract This study indicates the isolation of tribe-specific centromeric DNAs by laser microdissection and cloning the sequence representing the main motif of these repetitive DNAs could offer the perspectives for comparative phylogenetic studies. PMID: 22249998 [PubMed - as supplied by publisher] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5617844 Tue, 17 Jan 2012 05:00:00 +0100 5617844 http://www.medworm.com/index.php?rid=5617845&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22246661%26dopt%3DAbstract Authors: Soltész A, Vágújfalvi A, Rizza F, Kerepesi I, Galiba G, Cattivelli L, Coraggio I, Crosatti C Abstract The Osmyb4 rice gene, coding for a transcription factor, proved to be efficient against different abiotic stresses as a trans(cis)gene in several plant species, although the effectiveness was dependent on the host genomic background. Eight barley transgenic lines carrying the rice Osmyb4 gene under the control of the Arabidopsis cold inducible promoter cor15a were produced to test the efficiency of this gene in barley. After a preliminary test, the best performing lines were subjected to freezing at -11°C and -12°C. Frost tolerance was assessed measured the F(v)/F(m) parameter widely used to indicate the maximum quantum yield of photosystem II photochemistry in the da... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5617845 Sat, 14 Jan 2012 05:00:00 +0100 5617845 http://www.medworm.com/index.php?rid=5523549&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22183866%26dopt%3DAbstract Authors: Hartmann S, Szaumkessel M, Salaverria I, Simon R, Sauter G, Kiwerska K, Gawecki W, Bodnar M, Marszalek A, Richter J, Brauze D, Zemke N, Jarmuz M, Hansmann ML, Siebert R, Szyfter K, Giefing M Abstract Although down-regulation of GNG7 in cancer was reported before, its role in carcinogenesis is poorly understood. It belongs to a family of large G-proteins that may be involved in cell-contact-induced growth arrest and function in tumor suppression. In the present study, we stained immunohistochemically 188 tumors derived from larynx or floor of the mouth for GNG7 protein and confronted it with clinicopathologic data. Moreover, we performed bisulfite pyrosequencing to analyze GNG7 promoter methylation. We identified recurrent loss of GNG7 protein expression in 68/188 (36%) cas... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5523549 Tue, 20 Dec 2011 05:00:00 +0100 5523549 http://www.medworm.com/index.php?rid=5469843&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22125160%26dopt%3DAbstract Authors: Mohler V, Zeller FJ, Hsam SL Abstract Powdery mildew is a prevalent fungal disease affecting oat (Avena sativa L.) production in Europe. Common oat cultivar Rollo was previously shown to carry the powdery mildew resistance gene Eg-3 in common with cultivar Mostyn. The resistance gene was mapped with restriction fragment length polymorphism (RFLP) markers from Triticeae group-1 chromosomes using a population of F(3) lines from a cross between A. byzantina cv. Kanota and A. sativa cv. Rollo. This comparative mapping approach positioned Eg-3 between cDNA-RFLP marker loci cmwg706 and cmwg733. Since both marker loci were derived from the long arm of barley chromosome 1H, the subchromosomal location of Eg-3 was assumed to be on the long arm of oat chromosome 17. Amplified fragme... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5469843 Tue, 29 Nov 2011 05:00:00 +0100 5469843 http://www.medworm.com/index.php?rid=5469842&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22125161%26dopt%3DAbstract We describe the first case of two chromosomal abnormalities, balanced reciprocal translocation t(5;13)(q33;q12.1) and a microduplication in the region 9q31.1, in a man suffering from infertility and pollinosis. In the region 13q12.1 is located the TUBA3C (tubulin, alpha 3c) gene, which plays an important dynamic role in the motility of flagella. This case might support the opinion that haploinsufficiency of the TUBA3C gene could be the cause of sperm immotility and abnormal sperm morphology, resulting in infertility in the patient. Single-nucleotide polymorphism (SNP) array analysis revealed a novel 9q31.1 microduplication inherited from both parents, which contributes to the genomic instability. PMID: 22125161 [PubMed - as supplied by publisher] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5469842 Tue, 29 Nov 2011 05:00:00 +0100 5469842 http://www.medworm.com/index.php?rid=5409113&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22081432%26dopt%3DAbstract Authors: Bérubé SC, Johnsson PR, Bunimov N, Boivin C, Laneuville O Abstract Genetic studies in purebred Portuguese water dogs (PWD) have previously identified genetic loci controlling skeleton size. The FH2295 genetic marker was reported to control 43.6% of the size variation in this breed. In the present study, we amplified and sequenced the genomic DNA from female PWD of different sizes in the region of the FH2295 genetic marker. Polymerase chain reaction (PCR) products of 700 and 800 bp were generated and sequencing revealed the presence of a microsatellite marker including either 5 or 24 repeats of the tetranucleotide sequence "CTTT". Dogs were divided into groups based on their genotypes: homozygote for the short allele (II) or homozygote for the long allele (BB) or heteroz... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5409113 Sat, 12 Nov 2011 05:00:00 +0100 5409113 http://www.medworm.com/index.php?rid=5409114&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22072274%26dopt%3DAbstract Authors: Zhuang Q, Zhang Z, Chen F, Xia G Abstract A genomic polymerase chain reaction (PCR) cloning strategy was applied to isolate ω-gliadin sequences from three A-genome diploid wheats (Triticum monococcum, T. boeoticum and T. urartu). Amplicon lengths varied from 744 and 1,044 bp, and those of the corresponding deduced mature proteins from 248 to 348 residues. The primary structure of the deduced polypeptides comprised a short N- and C-terminal conserved domain, and a long, variable repetitive domain. A phylogenetic analysis recognised several clades: the first consisted of three T. aestivum sequences; the second and the third two T. boeoticum and six T. monococcum sequences; and the rest four T. urartu and three T. aestivum sequences. Among the functional (non-pseudogene) AR... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5409114 Thu, 10 Nov 2011 05:00:00 +0100 5409114 http://www.medworm.com/index.php?rid=5374698&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22048895%26dopt%3DAbstract Authors: Siwek M, Szyda J, Sławińska A, Bednarczyk M Abstract A keyhole lymphet heamocyanin is an antigen which triggers Th1 type of immune response. A QTL for a primary immune response towards keyhole lymphet heamocyanin has been detected on chicken chromosome 14 in three populations. The results from the most recent population were inconsistent and varied depending on the applied QTL detection model. The major goal of the current study was the reanalysis of this data using a 2 QTL model. Additionally, in order to provide more accurate estimates of QTL effects and positions, epistasis between the QTL was considered as a potential important contributor to quantitative traits. Four statistical models were assumed: M1: A model assuming marginal additive effects of two QTL; M2: A mo... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5374698 Thu, 03 Nov 2011 04:00:00 +0100 5374698 http://www.medworm.com/index.php?rid=5374702&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22033869%26dopt%3DAbstract Authors: Singh A, Pallavi JK, Gupta P, Prabhu KV Abstract The leaf rust resistance gene Lr25, transferred from Secale cereale L. into wheat and located on chromosome 4B, imparts resistance to all pathotypes of leaf rust in South-East Asia. In an F(2)-derived F(3) population, created by crossing TcLr25 that carries the gene Lr25 for leaf rust resistance with leaf rust-susceptible parent Agra Local, three microsatellite markers located on the long arm of chromosome 4B were found to be linked to the Lr25 locus. The donor parent TcLr25 is a near-isogenic line derived from the variety Thatcher. The most virulent pathotype of leaf rust in the South-East Asian region, designated 77-5 (121R63-1), was used for challenging the population under artificially controlled conditions. The marker X... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5374702 Fri, 28 Oct 2011 04:00:00 +0100 5374702 http://www.medworm.com/index.php?rid=5374699&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22038456%26dopt%3DAbstract CONCLUSIONS: The exposure of leukemic blasts to drugs initiates a complex cellular response, which reflects global changes in gene expression. Changes in the expression of several genes are highly correlated with drug resistance. PMID: 22038456 [PubMed - as supplied by publisher] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5374699 Thu, 27 Oct 2011 04:00:00 +0100 5374699 http://www.medworm.com/index.php?rid=5374703&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22012677%26dopt%3DAbstract This study suggests that direct selection method may be used reliably in selection programs and selection for multiple diseases simultaneously can be considered for rohu. PMID: 22012677 [PubMed - as supplied by publisher] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5374703 Thu, 20 Oct 2011 04:00:00 +0100 5374703 http://www.medworm.com/index.php?rid=5374706&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22002119%26dopt%3DAbstract In conclusion, a B. rapa breeding program for biomass production in Europe should not only use European genetic resources, but should also utilize the much wider worldwide variation in this species. PMID: 22002119 [PubMed - as supplied by publisher] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5374706 Sat, 15 Oct 2011 04:00:00 +0100 5374706 http://www.medworm.com/index.php?rid=5374705&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22002120%26dopt%3DAbstract Authors: Ziętkiewicz E, Witt M, Daca P, Zebracka-Gala J, Goniewicz M, Jarząb B, Witt M Abstract This review presents the basic problems and currently available molecular techniques used for genetic profiling in disaster victim identification (DVI). The environmental conditions of a mass disaster often result in severe fragmentation, decomposition and intermixing of the remains of victims. In such cases, traditional identification based on the anthropological and physical characteristics of the victims is frequently inconclusive. This is the reason why DNA profiling became the gold standard for victim identification in mass-casualty incidents (MCIs) or any forensic cases where human remains are highly fragmented and/or degraded beyond recognition. The review provides general infor... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5374705 Sat, 15 Oct 2011 04:00:00 +0100 5374705 http://www.medworm.com/index.php?rid=5374704&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D22002121%26dopt%3DAbstract Authors: Kwiatek M, Błaszczyk L, Wiśniewska H, Apolinarska B Abstract The aim of this study was to assess the potential breeding value of goatgrass-rye amphiploids, which we are using as a "bridge" in a transfer of Aegilops chromatin (containing, e.g. leaf rust resistance genes) into triticale. We analysed the chromosomal constitution (by genomic in situ hybridisation, GISH), fertility (by pollen viability tests) and the presence of leaf rust and eyespot resistance genes (by molecular and endopeptidase assays) in a collection of 6× and 4× amphiploids originating from crosses between five Aegilops species and Secale cereale. In the five hexaploid amphiploids Aegilops kotschyi × Secale cereale (genome UUSSRR), Ae. variabilis × S. cereale (UUSSRR), Ae. biuncialis × S. cereale (... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5374704 Sat, 15 Oct 2011 04:00:00 +0100 5374704 http://www.medworm.com/index.php?rid=5323328&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21994088%26dopt%3DAbstract Authors: Pavlov KA, Chistiakov DA, Chekhonin VP Abstract Human aggression/impulsivity-related traits have a complex background that is greatly influenced by genetic and non-genetic factors. The relationship between aggression and anxiety is regulated by highly conserved brain regions including amygdala, which controls neural circuits triggering defensive, aggressive, or avoidant behavioral models. The dysfunction of neural circuits responsible for emotional control was shown to represent an etiological factor of violent behavior. In addition to the amygdala, these circuits also involve the anterior cingulated cortex and regions of the prefrontal cortex. Excessive reactivity in the amygdala coupled with inadequate prefrontal regulation serves to increase the likelihood of aggressive... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5323328 Thu, 13 Oct 2011 04:00:00 +0100 5323328 http://www.medworm.com/index.php?rid=5293256&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21971991%26dopt%3DAbstract Authors: Bonchev G, Stoilov L, Angelova Z, Georgiev S Abstract DNA sequences homologous to the maize Activator (Ac) element are widespread in plant genomes. Nowadays, several reports are available concerning the distribution and characterisation of Ac-homologous sequences in natural populations of different cereal species. but these mobile genetic elements still remain to be comprehensively characterised. In this respect, there is a particular lack of information about the dynamics of Ac-homologous sequences within mutant germplasm collections. Here, we present data on the genomic diversity and methylation patterns of Ac-homologous sequences in ethyl methanesulphonate (EMS)-induced sphaerococcum mutant forms of common wheat (Triticum aestivum L.) and triticale (X Triticosecale Witt... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5293256 Wed, 05 Oct 2011 04:00:00 +0100 5293256 http://www.medworm.com/index.php?rid=5272340&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21952729%26dopt%3DAbstract Authors: Bińka A, Orczyk W, Nadolska-Orczyk A Abstract The influence of two binary vector systems, pGreen and pCAMBIA, on the Agrobacterium-mediated transformation ability of wheat and triticale was studied. Both vectors carried selection cassettes with bar or nptII driven by different promoters. Two cultivars of wheat, Kontesa and Torka, and one cultivar of triticale, Wanad, were tested. The transformation rates for the wheat cultivars ranged from 0.00 to 3.58% and from 0.00 to 6.79% for triticale. The best values for wheat were 3.58% for Kontesa and 3.14% for Torka, and these were obtained after transformation with the pGreen vector carrying the nptII selection gene under the control of 35S promoter. In the case of the bar selection system, the best transformation rates were, re... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5272340 Wed, 28 Sep 2011 04:00:00 +0100 5272340 http://www.medworm.com/index.php?rid=5272339&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21952730%26dopt%3DAbstract Authors: Peñagaricano F, Zorrilla P, Naya H, Robello C, Urioste JI Abstract The white coat colour of sheep is an important economic trait. For unknown reasons, some animals are born with, and others develop with time, black skin spots that can also produce pigmented fibres. The presence of pigmented fibres in the white wool significantly decreases the fibre quality. The aim of this work was to study gene expression in black spots (with and without pigmented fibres) and white skin by microarray techniques, in order to identify the possible genes involved in the development of this trait. Five unrelated Corriedale sheep were used and, for each animal, the three possible comparisons (three different hybridisations) between the three samples of interest were performed. Differential ge... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5272339 Wed, 28 Sep 2011 04:00:00 +0100 5272339 http://www.medworm.com/index.php?rid=5238612&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21931978%26dopt%3DAbstract Authors: Ciuladaitė Z, Kasnauskienė J, Cimbalistienė L, Preikšaitienė E, Patsalis PC, Kučinskas V PMID: 21931978 [PubMed - as supplied by publisher] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5238612 Tue, 20 Sep 2011 04:00:00 +0100 5238612 http://www.medworm.com/index.php?rid=5224430&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21912934%26dopt%3DAbstract Authors: Bocianowski J, Mikołajczyk K, Bartkowiak-Broda I Abstract One of the goals in oilseed rape programs is to develop genotypes producing oil with low linolenic acid content (C18:3, ≤3%). Low linolenic mutant lines of canola rapeseed were obtained via chemical mutagenesis at the Plant Breeding and Acclimatization Institute - NRI, in Poznan, Poland, and allele-specific SNP markers were designed for monitoring of two statistically important single nucleotide polymorphisms detected by SNaPshot analysis in two FAD3 desaturase genes, BnaA.FAD3 and BnaC.FAD3, respectively. Strong negative correlation between the presence of mutant alleles of the genes and linolenic acid content was revealed by analysis of variance. In this paper we present detailed characteristics of the markers ... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5224430 Tue, 13 Sep 2011 04:00:00 +0100 5224430 http://www.medworm.com/index.php?rid=5224429&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21912935%26dopt%3DAbstract Authors: Kurowska M, Daszkowska-Golec A, Gruszka D, Marzec M, Szurman M, Szarejko I, Maluszynski M Abstract Recent advances in large-scale genome sequencing projects have opened up new possibilities for the application of conventional mutation techniques in not only forward but also reverse genetics strategies. TILLING (Targeting Induced Local Lesions IN Genomes) was developed a decade ago as an alternative to insertional mutagenesis. It takes advantage of classical mutagenesis, sequence availability and high-throughput screening for nucleotide polymorphisms in a targeted sequence. The main advantage of TILLING as a reverse genetics strategy is that it can be applied to any species, regardless of its genome size and ploidy level. The TILLING protocol provides a high frequency of po... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5224429 Tue, 13 Sep 2011 04:00:00 +0100 5224429 http://www.medworm.com/index.php?rid=5214657&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21892624%26dopt%3DAbstract This article will bring together the information on our current knowledge of miRNA biology, the approaches for miRNA analysis, and computational strategies to gain insight in miRNA functional roles. PMID: 21892624 [PubMed - as supplied by publisher] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5214657 Sat, 03 Sep 2011 04:00:00 +0100 5214657 http://www.medworm.com/index.php?rid=5087008&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21796391%26dopt%3DAbstract Authors: Stępień L, Koczyk G, Waśkiewicz A Fusarium proliferatum (Matsushima) Nirenberg is a common pathogen infecting numerous crop plants and occurring in various climatic zones. It produces large amounts of fumonisins, a group of polyketide-derived mycotoxins. Fumonisin biosynthesis is determined by the presence and activity of the FUM cluster, several co-regulated genes with a common expression pattern. In the present work, we analyzed 38 F. proliferatum isolates from different host plant species, demonstrating host-specific polymorphisms in partial sequences of the key FUM1 gene (encoding polyketide synthase). We also studied growth rates across different temperatures and sample origin and tried to establish the relationships between DNA sequence polymorphism and toxigenic pote... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5087008 Wed, 27 Jul 2011 23:00:00 +0100 5087008 http://www.medworm.com/index.php?rid=5087035&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21769669%26dopt%3DAbstract Authors: Cieslarová J, Hanáček P, Fialová E, Hýbl M, Smýkal P Microsatellites, or simple sequence repeats (SSRs) are widespread class of repetitive DNA sequences, used in population genetics, genetic diversity and mapping studies. In spite of the SSR utility, the genetic and evolutionary mechanisms are not fully understood. We have investigated three microsatellite loci with different position in the pea (Pisum sativum L.) genome, the A9 locus residing in LTR region of abundant retrotransposon, AD270 as intergenic and AF016458 located in 5'untranslated region of expressed gene. Comparative analysis of a 35 pair samples from seven pea varieties propagated by single-seed descent for ten generations, revealed single 4 bp mutation in 10th generation sample at AD270 locus correspondi... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=5087035 Mon, 18 Jul 2011 23:00:00 +0100 5087035 http://www.medworm.com/index.php?rid=4994052&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21698376%26dopt%3DAbstract Authors: Pareek CS, Smoczynski R, Tretyn A The high-throughput - next generation sequencing (HT-NGS) technologies are currently the hottest topic in the field of human and animals genomics researches, which can produce over 100 times more data compared to the most sophisticated capillary sequencers based on the Sanger method. With the ongoing developments of high throughput sequencing machines and advancement of modern bioinformatics tools at unprecedented pace, the target goal of sequencing individual genomes of living organism at a cost of $1,000 each is seemed to be realistically feasible in the near future. In the relatively short time frame since 2005, the HT-NGS technologies are revolutionizing the human and animal genome researches by analysis of chromatin immunoprecipitation co... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4994052 Wed, 22 Jun 2011 23:00:00 +0100 4994052 http://www.medworm.com/index.php?rid=4944926&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21660490%26dopt%3DAbstract Authors: Rahmatalla SA, Müller U, Strucken EM, Reissmann M, Brockmann GA The bovine growth hormone receptor (GHR) gene has been identified as a strong positional and functional candidate gene influencing milk production. A non-synonymous single nucleotide polymorphism (SNP) in exon 8 leads to a phenylalanine to tyrosine amino acid substitution (F279Y) in the receptor. The aim of the study was to estimate the effects of the F279Y mutation on milk yield, fat, protein, casein, and lactose yield and content, as well as somatic cell score (SCS), in a German Holstein dairy cattle population. The analysis of 1,370 dairy cows confirmed a strong association of the F279Y polymorphism with milk yield, as well as with fat, protein, and casein contents. Furthermore, increasing effects on lactose y... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4944926 Thu, 09 Jun 2011 23:00:00 +0100 4944926 http://www.medworm.com/index.php?rid=4944927&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21655975%26dopt%3DAbstract In this study, miRNA microarray was employed to investigate the different miRNA expression patterns in bovine CL. Among the 13 differentially expressed miRNAs, seven were preferentially expressed in non-regressed CL, while six miRNAs were more highly expressed in regressed CL. Real-time RT-PCR was used to validate the microarray results. Mir-378 miRNA, known to be associated with apoptosis, was 8.54-fold (P < 0.01) up-regulated in non-regressed CL, and the interferon gamma receptor 1 (IFNGR1) gene, which potentially plays a role in apoptosis of the luteal cell, was predicted to be the target of mir-378. The results of real-time RT-PCR of mir-378 and western blot analysis of the IFNGR1 protein at different stages of CL development showed that mir-378 decreased the expression of IFNGR... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4944927 Tue, 07 Jun 2011 23:00:00 +0100 4944927 http://www.medworm.com/index.php?rid=4849270&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21584728%26dopt%3DAbstract The objective was to evaluate the effects of directional selection based on estimated genomic breeding values (GEBVs) for a quantitative trait. Selection affects GEBV prediction accuracy as well as genetic architecture via changes in allelic frequencies and linkage disequilibrium (LD), and the resulting changes are different from those in the absence of selection. How marker density affects long-term GEBV accuracy and selection response needs to be understood as well. Simulations were used to characterize the impact of selection based on GEBVs over generations. Single-nucleotide polymorphism (SNP) marker effects were estimated with the Bayesian Lasso method in the base generation, and these estimates were used to calculate the GEBVs in subsequent generations. GEBV accuracy decreased over g... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4849270 Mon, 16 May 2011 23:00:00 +0100 4849270 http://www.medworm.com/index.php?rid=4849269&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21584729%26dopt%3DAbstract Authors: Yonath H, Marek-Yagel D, Resnik-Wolf H, Abu-Horvitz A, Baris HN, Shohat M, Frydman M, Pras E The purpose of this study was to identify a gene causing non-syndromic X-linked mental retardation in an extended family, taking advantage of the X chromosome inactivation status of the females in order to determine their carrier state. X inactivation in the females was determined with the androgen receptor methylation assay; thereafter, the X chromosome was screened with evenly spaced polymorphic markers. Once initial linkage was identified, the region of interest was saturated with additional markers and the males were added to the analysis. Candidate genes were sequenced. Ten females showed skewed inactivation, while six revealed a normal inactivation pattern. A maximal lod score of... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4849269 Mon, 16 May 2011 23:00:00 +0100 4849269 http://www.medworm.com/index.php?rid=4849268&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21584730%26dopt%3DAbstract In this study, we analyzed the characters, organization and core region of the promoter of pig GPD1 gene by in silico analysis and activity detection of deletion mutants. We also identified and testified the negative regulation effect of C/EBP β on pig GPD1 gene by Chromatin immunoprecipitation (ChIP) assay and over-expression experiments in cultured pig kidney cells. Compared to that of human, pig GPD1 gene promoter has three conserved regions and one deletion region. In silico analysis indicated that pig GPD1 promoter was TATA-less with at least 3 CpG islands of over 200 bp in length and over 60% in GC content. The activity detection of deletion mutants suggested that the essential elements required for the optimal promoter activity scatter in the promoter region, while the core promot... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4849268 Mon, 16 May 2011 23:00:00 +0100 4849268 http://www.medworm.com/index.php?rid=4849267&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21584731%26dopt%3DAbstract This study identifies the number and chromosomal location of ribosomal DNA (rDNA) sites between Secale cereale, Dasypyrum villosum, and their allotetraploid S. cereale × D. villosum hybrids. For the first time, we show the advantages of FISH to reveal chromosome rearrangements in the tetraploid Secale × Dasypyrum hybrids. Based on the specific hybridization patterns of ribosomal 5S, 35S DNA and rye species-specific pSc200 DNA probes, a set of genotypes with numerous Secale/Dasypyrum translocations of 1R/1V chromosomes were identified in successive generations of allotetraploid S. cereale × D. villosum hybrids. In addition we analyse rye chromosome pairs using FISH with chromosome-specific DNA sequences on S. cereale × D. villosum hybrids. PMID: 21584731 [PubMed - as supplied by pub... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4849267 Mon, 16 May 2011 23:00:00 +0100 4849267 http://www.medworm.com/index.php?rid=4849274&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21559993%26dopt%3DAbstract Authors: Galek R, Rurek M, De Jong WS, Pietkiewicz G, Augustyniak H, Sawicka-Sienkiewicz E Ninety-one potato genotypes (cultivars and breeding lines) selected as resistant or susceptible to pathotype Ro1 of Globodera rostochiensis were screened for the presence of two PCR markers, 0.14 and 0.76 kb in length. Both PCR markers were linked with the H1 gene, located at the distal end of the long arm of chromosome V, and were present in 88 to 100% of the resistant cultivars and breeding lines. The 0.76 kb PCR marker was detected in all resistant genotypes and in approximately 86% of susceptible breeding lines as well as in all susceptible cultivars. The 0.14 kb marker was detected in 88% of resistant breeding lines and in 94% of resistant cultivars. Most of the susceptible genotypes test... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4849274 Tue, 10 May 2011 23:00:00 +0100 4849274 http://www.medworm.com/index.php?rid=4849273&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21559994%26dopt%3DAbstract In this study, 250 recombinant inbred lines (RILs) along with their resistant (BT-1) and susceptible (N6) parents were planted in Zhengzhou with three replications in 2007 and 2008. Each line was artificially inoculated using the nail-punch method. Significant genotypic variation in response to Fusarium ear rot was detected in both years. Based on a genetic map containing 207 polymorphic simple sequence repeat (SSR) markers with average genetic distances of 8.83 cM, the ear rot resistance quantitative trait loci (QTL) were analyzed by composite interval mapping with a mixed model (MCIM) across the environments. In total, four QTL were detected on chromosomes 3, 4, 5, and 6. The resistance allele at each of these four QTL was contributed by resistant parent BT-1, and accounted for 2.5-10.2... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4849273 Tue, 10 May 2011 23:00:00 +0100 4849273 http://www.medworm.com/index.php?rid=4849272&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21559995%26dopt%3DAbstract Authors: Stojałowski SA, Milczarski P, Hanek M, Bolibok-Brągoszewska H, Myśków B, Kilian A, Rakoczy-Trojanowska M The Rfc1 gene controls restoration of male fertility in rye (Secale cereale L.) with sterility-inducing cytoplasm CMS-C. Two populations of recombinant inbred lines (RIL) were used in this study to identify DArT markers located on the 4RL chromosome, in the close vicinity of the Rfc1 gene. In the population developed from the 541×2020LM intercross, numerous markers tightly linked with the restorer gene were identified. This group contained 91 DArT markers and three SCARs additionally analyzed in the study. All these markers were mapped in the distance not exceeding 6 cM from the gene of interest. In the second mapping population (541×Ot1-3 intercross), only 9 DArT ma... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4849272 Tue, 10 May 2011 23:00:00 +0100 4849272 http://www.medworm.com/index.php?rid=4849271&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21559996%26dopt%3DAbstract Authors: Pradeep AR, Awasthi AK, Singh CK, Anuradha HJ, Rao CG, Vijayaprakash NB Genetic structure of populations is under constant pressure from varying geographical conditions that induce phenotypic plasticity in insects. Spatial distribution of 15 populations of Indian eri silkworm, Samia cynthia ricini originated at various altitudes of sub Himalayas based on Euclidean distance realized from yield attributes showed two population clusters irrespective of their place of origin and altitude. However, DNA amplification profile by inter SSR (ISSR) markers showed genetic variations among the populations depend on low and high altitudes. One ISSR locus each specific to high and low altitude population was identified. The locus from high altitude showed deviation from Hardy-Weinberg equil... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4849271 Tue, 10 May 2011 23:00:00 +0100 4849271 http://www.medworm.com/index.php?rid=4849275&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21553085%26dopt%3DAbstract Authors: Szyda J, Zarnecki A, Suchocki T, Kamiński S The aim of the study was to fit the genomic evaluation model to Polish Holstein-Friesian dairy cattle. A training data set for the estimation of additive effects of single nucleotide polymorphisms (SNPs) consisted of 1227 Polish Holstein-Friesian bulls. Genotypes were obtained by the use of Illumina BovineSNP50 Genotyping BeadChip. Altogether 29 traits were considered: milk-, fat- and protein- yields, somatic cell score, four female fertility traits, and 21 traits describing conformation. The prediction of direct genomic values was based on a mixed model containing deregressed national proofs as a dependent variable and random SNP effects as independent variables. The correlations between direct genomic values and conventional esti... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4849275 Fri, 06 May 2011 23:00:00 +0100 4849275 http://www.medworm.com/index.php?rid=4795279&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21523429%26dopt%3DAbstract Authors: Conti V, Roncallo PF, Beaufort V, Cervigni GL, Miranda R, Jensen CA, Echenique VC Quality, specifically protein content and gluten strength are among the main objectives of a durum wheat breeding program. The aim of this work was to validate quantitative trait loci (QTLs) associated with grain protein content (GPC) and gluten strength measured by SDS sedimentation volume (SV) and to find additional QTLs expressed in Argentinean environments. Also, epistatic QTL and QTL x environmental interactions were analyzed. A mapping population of 93 RILs derived from the cross UC1113 x Kofa showing extreme values in gluten quality was used. Phenotypic data were collected along six environments (three locations, two years). Main effect QTLs associated with GPC were found in equivalent pos... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4795279 Tue, 26 Apr 2011 23:00:00 +0100 4795279 http://www.medworm.com/index.php?rid=4795280&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21509577%26dopt%3DAbstract Authors: Brozovic G, Orsolic N, Knezevic F, Horvat Knezevic A, Benkovic V, Sakic K, Borojevic N, Dikic D The aim of this study was to evaluate the genotoxicity of repeated exposure to isoflurane or halothane and compare it with the genotoxicity of repeated exposure to cisplatin. We also determined the genotoxicity of combined treatment with inhalation anaesthetics and cisplatin on peripheral blood leucocytes (PBL), brain, liver and kidney cells of mice. The mice were divided into six groups as follows: control, cisplatin, isoflurane, cisplatin-isoflurane, halothane and cisplatin-halothane, and were exposed respectively for three consecutive days. The mice were treated with cisplatin or exposed to inhalation anaesthetic; the combined groups were exposed to inhalation anaesthetic after t... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4795280 Wed, 20 Apr 2011 23:00:00 +0100 4795280 http://www.medworm.com/index.php?rid=4795282&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21503672%26dopt%3DAbstract Authors: Venturini G, Assante G, Toffolatti SL, Vercesi A Fusarium verticillioides, the most common causal organism of Fusarium stalk and ear rot of maize in Northern Italy, produces important mycotoxins such as fumonisins. Reproductive biology of F. verticillioides has been widely studied in numerous maize growing areas, but up to now no information is available on the mating behavior and genetic structure of this plant pathogen in Italy. Mating type and female fertility distribution and effective population number, N ( e ), were assessed for a population of 181 F. verticillioides strains isolated from three fields located in Lombardia region (Northern Italy) during 2007-2008 maize growing season. The ratio of MAT-1:MAT-2 was significantly different from the theoretical 1:1 ratio expe... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4795282 Mon, 18 Apr 2011 23:00:00 +0100 4795282 http://www.medworm.com/index.php?rid=4795281&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21503673%26dopt%3DAbstract Authors: Brozek I, Cybulska C, Ratajska M, Piatkowska M, Kluska A, Balabas A, Dabrowska M, Nowakowska D, Niwinska A, Pamula-Pilat J, Tecza K, Pekala W, Rembowska J, Nowicka K, Mosor M, Januszkiewicz-Lewandowska D, Rachtan J, Grzybowska E, Nowak J, Steffen J, Limon J The purpose of our study was to establish the frequency and distribution of the four most common BRCA1 mutations in Polish general population and in a series of breast cancer patients. Analysis of the population frequency of 5382insC (c.5266dupC), 300T >G (p.181T >G), 185delAG (c.68_69delAG) and 3819del5 (c.3700_3704del5) mutations of the BRCA1 gene were performed on a group of respectively 16,849, 13,462, 12,485 and 3923 anonymous samples collected at birth in seven Polish provinces. The patient group consisted of 18... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4795281 Mon, 18 Apr 2011 23:00:00 +0100 4795281 http://www.medworm.com/index.php?rid=4685056&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21465154%26dopt%3DAbstract Authors: Genualdo V, Spalenza V, Perucatti A, Iannuzzi A, Di Meo GP, Caputi-Jambrenghi A, Vonghia G, Rasero R, Nebbia C, Sacchi P, Iannuzzi L Six loci containing genes involved in the dioxin metabolism (ARNT, AHR, CYP1A1, CYP1A2, CYP1B1 and AHRR) were assigned, for the first time, to cattle (Bos taurus, 2n = 60, BTA), river buffalo (Bubalus bubalis, 2n = 50, BBU), sheep (Ovis aries, 2n = 54, OAR) and goat (Capra hircus, 2n = 60, CHI) chromosomes by comparative FISH-mapping and R-banding using bovine BAC-clones. The following chromosome locations were found: ARNT to BTA3q21, BBU6q21, OAR1p21 and CHI3q21, AHR to BTA4q15, BBU8q15, OAR4q15 and CHI4q15; CYP1A1 and CYP1A2 to BTA21q17, BBU20q17, OAR18q17 and CHI21q17; CYP1B1 to BTA11q16, BBU12q22, OAR3p16 and CHI11q16, AHRR to... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4685056 Mon, 04 Apr 2011 23:00:00 +0100 4685056 http://www.medworm.com/index.php?rid=4685055&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21465155%26dopt%3DAbstract We describe the first case of a supernumerary inv dup(22)(q11.1) in an infertile male with hypogonadotropic hypogonadism. This case supports the opinion that supernumerary inv dup(22)(q11.1) could play a role in male infertility. We suggest that the breakpoint in the region 22q11.1 and/or fourfold dosage of centromeric/pericentromeric sequences of the chromosome 22 may be the cause of hypogonadotropic hypogonadism resulting in impaired spermatogenesis and infertility in our patient. PMID: 21465155 [PubMed - as supplied by publisher] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4685055 Mon, 04 Apr 2011 23:00:00 +0100 4685055 http://www.medworm.com/index.php?rid=4685054&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21465156%26dopt%3DAbstract Authors: Błaszczyk L, Popiel D, Chełkowski J, Koczyk G, Samuels GJ, Sobieralski K, Siwulski M In the present study, we reinvestigate the diversity of Trichoderma in Poland utilizing a combination of morphological and molecular/phylogenetic methods. A total of 170 isolates were collected from six different substrata at 49 sites in Poland. These were divided among 14 taxa as follows: 110 of 170 Trichoderma isolates were identified to the species level by the analysis of their ITS1, ITS2 rDNA sequences as: T. harzianum (43 isolates), T. aggressivum (35), T. citrinoviride (11), T. hamatum (9), T. virens (6), T. longibrachiatum (4), T. polysporum (1), and T. tomentosum (1); 60 isolates belonging to the Viride clade were identified based on a fragment of the translation-elongation factor 1... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4685054 Mon, 04 Apr 2011 23:00:00 +0100 4685054 http://www.medworm.com/index.php?rid=4685058&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21437653%26dopt%3DAbstract Authors: Hu LJ, Li GR, Zeng ZX, Chang ZJ, Liu C, Yang ZJ Stripe rust (caused by Puccinia striiformis) occurs annually in most wheat-growing areas of the world. Thinopyrum ponticum has provided novel rust resistance genes to protect wheat from this fungal disease. Wheat - Th. ponticum partial amphiploid line 7430 and a substitution line X005 developed from crosses between wheat and 7430 were resistant to stripe rust isolates from China. Genomic in situ hybridization (GISH) analysis using Pseudoroegneria spicata genomic DNA as a probe demonstrated that the partial amphiploid line 7430 contained ten J(s) and six J genome chromosomes, and line X005 had a pair of J(s)-chromosomes. Giemsa-C banding further revealed that both lines 7430 and X005 were absent of wheat chromosomes 6B. The EST ba... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4685058 Fri, 25 Mar 2011 00:00:00 +0100 4685058 http://www.medworm.com/index.php?rid=4685057&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21437654%26dopt%3DAbstract We describe a new case of a retarded patient with an sSMC derived from chromosome 5. The characterization of the sSMC was done by subcentromere-specific multicolor (subcenM) fluorescence in-situ hybridization (FISH) and by full tilling resolution array analysis, after microdissection and amplification of the marker DNA. Uniparental disomy for normal sister chromosomes of the sSMC(5) was excluded. The karyotype was mos47,XX,+r(5)(::p11.1 → q12.1::)[70%]/46,XX[30%], being the trisomic region between 46.15 ∼ 49.56 Mb and 61.25 ∼ 61.335 Mb, a region known to harbor ∼45 annotated genes. Together with a review of the previously described cases of sSMC(5) and duplications involving the 5q proximal region, we can conclude that trisomy of the 5q11 region is associated with lea... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4685057 Fri, 25 Mar 2011 00:00:00 +0100 4685057 http://www.medworm.com/index.php?rid=4630243&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21404041%26dopt%3DAbstract Authors: Georgieva M, Sepsi A, Tyankova N, Molnár-Láng M Fluorescence and genomic in situ hybridization (FISH and GISH) were used to establish the cytogenetic constitution of two wheat × Thinopyrum intermedium partial amphiploids H95 and 55(1-57). Both partial amphiploids are high-protein lines having resistance to leaf rust, yellow rust and powdery mildew and have in total 56 chromosomes per cell. Repetitive DNA probes (pTa71, Afa family and pSc119.2) were used to identify the individual wheat chromosomes and to reveal the distribution of these probes within the alien chromosomes. FISH detected 6B tetrasomy in H95 and a null (1D)-tetrasomy (1B) in 55(1-57). GISH was carried out using biotin labeled Th. intermedium DNA and digoxigenin labeled Pseudoroegneria spicata DNA as probes, s... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4630243 Tue, 15 Mar 2011 00:00:00 +0100 4630243 http://www.medworm.com/index.php?rid=4630242&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21404042%26dopt%3DAbstract In this report, we present the first studies of the whole coding sequence of the MC4R gene in 243 Polish obese children and adolescents (the mean relative body mass index [RBMI] was 163.6). In addition, 101 non-obese adults were also analyzed. Direct sequencing facilitated the identification of six missense (K73R, V103I, T112M, S127L, M215L, and I251L) and one silent (c.756 C > T) single-nucleotide polymorphisms (SNPs). Two non-synonymous polymorphisms (K73R and M215L) appeared to be novel and one was found in obese patients (M215L, one patient) and one in non-obese adults (K73R, one person). The overall frequency of non-synonymous variant carriers reached 4.1% and 6.9% in obese patients and non-obese adults, respectively. Only one obesity-associated variant (127L) was found in two... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4630242 Tue, 15 Mar 2011 00:00:00 +0100 4630242 http://www.medworm.com/index.php?rid=4566763&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21384226%26dopt%3DAbstract Authors: Fu C, Yun X, Dong Y, Wu BY, Han RR, Liu RZ PMID: 21384226 [PubMed - as supplied by publisher] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4566763 Tue, 08 Mar 2011 00:00:00 +0100 4566763 http://www.medworm.com/index.php?rid=4566764&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21369844%26dopt%3DAbstract We describe a new case of de novo 19q12-q13.2 duplication characterized by fluorescent in situ hybridization (FISH) and array comparative genomic hybridization (CGH) and, by reviewing the data from previous articles, we report a tentative genotype/phenotype correlation. Four previously described cases showed the same or overlapping 19q duplications and shared with our patient common dysmorphisms, psychomotor retardation, and CNS malformations. The present description of a new case of 19q12-q13.2 duplication with a molecular cytogenetic and genomic characterization adds further elements to the understanding of the impact of the genomic segment on the phenotype. PMID: 21369844 [PubMed - as supplied by publisher] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4566764 Thu, 03 Mar 2011 00:00:00 +0100 4566764 http://www.medworm.com/index.php?rid=4512772&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21327595%26dopt%3DAbstract Authors: Jiang C, Liu Y The mRNA differential display technique was performed to investigate the differences in gene expression in the liver tissues from Meishan and Large White pigs. One novel gene that was differentially expressed was identified through semi-quantitative reverse transcriptase polymerase chain reaction (RT-PCR) and the cDNA complete sequence was then obtained using the rapid amplification of cDNA ends (RACE) method. The nucleotide sequence of the gene is not homologous to any of the known porcine genes. The sequence prediction analysis revealed that the open reading frame of this gene encoding a protein of 501 amino acids has high homology with the lipase, hepatic (LIPC) of seven species-cattle (82%), rhesus monkey (79%), chimpanzee (78%), rabbit (77%), human (78%), m... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4512772 Tue, 15 Feb 2011 00:00:00 +0100 4512772 http://www.medworm.com/index.php?rid=4512773&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21318301%26dopt%3DAbstract Authors: Olczak-Woltman H, Marcinkowska J, Niemirowicz-Szczytt K Downy mildew, caused by the Oomycete pathogen Pseudoperonospora cubensis, is one of the most destructive diseases of cucumber (Cucumis sativus L.) and muskmelon (C. melo L.). Although the process of pathogenesis is well understood, there are few disease control options available. The development and deployment of resistant cultivars is generally considered to be the best approach to control downy mildew. The recently completed sequencing of the cucumber genome provides a great opportunity for reliable and thorough study of the sequence and function of resistance genes in the Cucurbitaceae, which will help us to understand the resistance mechanisms and metabolic pathways activated by these genes. It can be anticipated that... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4512773 Sat, 12 Feb 2011 00:00:00 +0100 4512773 http://www.medworm.com/index.php?rid=4455594&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21302020%26dopt%3DAbstract Authors: Gruszka D, Szarejko I, Maluszynski M The aim of these studies was to characterize nucleotide substitutions leading to the phenotype of brassinosteroid-insensitive, semi-dwarf barley mutant 093AR. Two substitutions in the sequence of barley HvBRI1 gene, encoding leucine-rich repeats receptor kinase (LRR-RK), which participates in brassinosteroid (BR) signalling, were identified in this chemically-induced barley mutant of the cv. Aramir. The LRR-RK is a transmembrane protein phosphorylating downstream components. The identified substitutions CC>AA at positions 1760 and 1761 in the HvBRI1 gene of this mutant led to a missense mutation, causing the Thr-573 to Lys-573 replacement in the protein sequence. The threonine residue is situated in the distal part of a 70-amino acids is... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4455594 Tue, 08 Feb 2011 00:00:00 +0100 4455594 http://www.medworm.com/index.php?rid=4455596&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21286900%26dopt%3DAbstract Authors: Tenhola-Roininen T, Kalendar R, Schulman AH, Tanhuanpää P A rye doubled haploid (DH) mapping population (Amilo × Voima) segregating for pre-harvest sprouting (PHS) was generated through anther culture of F(1) plants. A linkage map was constructed using DHs, to our knowledge, for the first time in rye. The map was composed of 289 loci: amplified fragment length polymorphism (AFLP), microsatellite, random amplified polymorphic DNA (RAPD), retrotransposon-microsatellite amplified polymorphism (REMAP), inter-retrotransposon amplified polymorphism (IRAP), inter-simple sequence repeat (ISSR) and sequence-related amplified polymorphism (SRAP) markers, and extended altogether 732 cM (one locus in every 2.5 cM). All of the seven rye chromosomes and four unplaced groups were formed... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4455596 Tue, 01 Feb 2011 00:00:00 +0100 4455596 http://www.medworm.com/index.php?rid=4455595&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21286901%26dopt%3DAbstract Authors: Kim CK, Cho MA, Choi YH, Kim JA, Kim YH, Kim YK, Park SH Black rice is rich in anthocyanin and is expected to have more healthful dietary potential than white rice. We assessed expression of anthocyanin in black rice cultivars using a newly designed 135 K Oryza sativa microarray. A total of 12,673 genes exhibited greater than 2.0-fold up- or down-regulation in comparisons between three rice cultivars and three seed developmental stages. The 137 transcription factor genes found to be associated with production of anthocyanin pigment were classified into 10 groups. In addition, 17 unknown and hypothetical genes were identified from comparisons between the rice cultivars. Finally, 15 out of the 17 candidate genes were verified by RT-PCR analysis. Among the genes, nine were up-re... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4455595 Tue, 01 Feb 2011 00:00:00 +0100 4455595 http://www.medworm.com/index.php?rid=4455597&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21279557%26dopt%3DAbstract Authors: Kumar S Review of biotechnology research in alfalfa shows that molecular techniques are extensively being used for basic and applied research toward alfalfa improvement. Biotechnological approaches have been used in two major areas, genomics and transgenics. In genomics, molecular markers, structural and functional genomics allowed identification of genes of interest and their regulatory components. Alfalfa being obstinate to genetic and genomic analysis, comparative genomics is used for molecular and genetic dissection of various plant processes in alfalfa. Alternatively, transgenic approach involves incorporation of specific and useful genes into alfalfa to improve the traits of interest. Input traits to improve agronomic performance and output traits to improve forage quali... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4455597 Sat, 29 Jan 2011 00:00:00 +0100 4455597 http://www.medworm.com/index.php?rid=4389092&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21225387%26dopt%3DAbstract Authors: Bipinraj A, Honrao B, Prashar M, Bhardwaj S, Rao S, Tamhankar S Leaf rust resistance gene Lr28 controls one of the important resistances in the Indian subcontinent against the most prevalent Puccinia triticina pathotype 77-5. Pyramiding Lr28 with other resistance genes would therefore, provide durable resistance against rust, a process that can be facilitated by DNA markers. A microsatellite marker wmc313 linked to Lr28 at a distance of 5.0 cM was identified in the population HD2329 × HW2037. The marker was validated in another population developed from WL711× CS + Lr28: 2D/2M 3/8 (acc. 2956) as well as in a few near- isogenic lines (NILs) carrying gene Lr28. Compared to the previously reported marker TPSCAR SCS421(570), wmc313 is more closely linked to Lr28. Both these mar... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4389092 Wed, 12 Jan 2011 00:00:00 +0100 4389092 http://www.medworm.com/index.php?rid=4389091&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21225388%26dopt%3DAbstract Authors: Masojć P, Wiśniewska M, Lań A, Milczarski P, Berdzik M, Pędziwiatr D, Pol-Szyszko M, Gałęza M, Owsianicki R Bi-directional selective genotyping (BSG) carried out on two opposite groups of F(9)(541 × Ot1-3) recombinant inbred lines (RILs) with extremely low and extremely high alpha-amylase activities in mature (dry) grain of rye, followed by molecular mapping, revealed a complex system of selection-responsive loci. Three classes of loci controlling alpha-amylase activity were discerned, including four major AAD loci on chromosomes 3R (three loci) and 6RL (one locus) responding to both directions of the disruptive selection, 20 AAR loci on chromosomes 2RL (three loci), 3R (three loci), 4RS (two loci), 5RL (three loci), 6R (two loci) and 7R (seven loci) responding to s... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4389091 Wed, 12 Jan 2011 00:00:00 +0100 4389091 http://www.medworm.com/index.php?rid=4389090&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21225389%26dopt%3DAbstract Authors: Dumic K, Barisic I, Potocki K, Sansovic I The simultaneous presence of Down syndrome and achondroplasia has rarely been reported in the literature, and our search revealed only six patients with such an association. We are reporting the first case of a patient with Down syndrome and hypochondroplasia. In this patient, Down syndrome was clinically recognised and confirmed by the cytogenetic finding of mosaic karyotype (47,XX,+21/46,XX) shortly after birth. She was subsequently diagnosed with hypochondroplasia at the age of 6 years when disproportional short stature, stocky habitus and macrocephaly were observed. These phenotypic findings were later confirmed by the presence of fibroblast growth factor receptor 3 (FGFR3) gene mutation N540K. The overlapping common clinical featu... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4389090 Wed, 12 Jan 2011 00:00:00 +0100 4389090 http://www.medworm.com/index.php?rid=4389089&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21225390%26dopt%3DAbstract Authors: Gruszczyńska A, Rakoczy-Trojanowska M The genetic basis of the regeneration process in cultured immature embryos of rye (Secale cereale L.) was analyzed. The experiments were designed to reveal differences between the in vitro culture responses of two inbred lines: L318 (a high regeneration ability) and L9 (a low potential for regeneration). The rye ortologues of plant genes previously recognized as crucial for somatic embryogenesis and morphogenesis in vitro were identified. Using oligonucleotide primers designed to conserved regions of the genes Somatic Embryogenesis Receptor-like Kinase (SERK), Leafy Cotyledon 1 (LEC1), Viviparous 1 (VP1) and NiR (encoding ferredoxin-nitrite reductase), it was possible to amplify specific homologous sequences from rye RNA by RT-PCR. The tr... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4389089 Wed, 12 Jan 2011 00:00:00 +0100 4389089 http://www.medworm.com/index.php?rid=4300740&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21184213%26dopt%3DAbstract Authors: Tang ZX, Yang ZJ, Fu SL, Yang MY, Li GR, Zhang HQ, Tan FQ, Ren Z A repetitive sequence of 491 bp, named pMD232-500, was isolated from S. cereale cv. Kustro using wheat SSR marker Xgwm232. GenBank BLAST search revealed that the sequence of pMD232-500 was highly similar to a part of retrotransposon Nusif-1. Fluorescence in situ hybridization (FISH) analysis using pMD232-500 as probe indicated that only 14 Thinopyrum intermedium chromosomes and all the chromosomes of S. cereale cv. Kustro bear FISH signals, however, no FISH signals were observed on Dasypyrum villosum chromosomes. In addition, the FISH signals were distributed on whole arms except their terminal regions. Further genomic in situ hybridization (GISH) analysis using genomic DNA from Pseudoroegneria spicata indicated... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4300740 Fri, 24 Dec 2010 00:00:00 +0100 4300740 http://www.medworm.com/index.php?rid=4300742&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21181333%26dopt%3DAbstract Authors: Hasiów-Jaroszewska B, Borodynko N, Pospieszny H Olive latent virus 1 (OLV-1) is a species of the Necrovirus genus. So far, it has been reported to infect olive, citrus tree and tulip. Here, we determined and analysed the complete genomic sequence of an isolate designated as CM1, which was collected from tomato plant in the Wielkopolska region of Poland and represents the prevalent isolate of OLV-1. The CM1 genome consists of monopartite single-stranded positive-sense RNA genome sized 3,699 nt with five open reading frames (ORFs) and small inter-cistronic regions. ORF1 encodes a polypeptide with a molecular weight of 23 kDa and the read-through (RT) of its amber stop codon results in ORF1 RT that encodes the virus RNA-dependent RNA polymerase. ORF2 and ORF3 encode two peptide... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4300742 Thu, 23 Dec 2010 00:00:00 +0100 4300742 http://www.medworm.com/index.php?rid=4300741&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21181334%26dopt%3DAbstract Authors: Gowda SJ, Radhika P, Mhase LB, Jamadagni BM, Gupta VS, Kadoo NY Chickpea is one of the most important leguminous cool season food crops, cultivated prevalently in South Asia and Middle East. The main objective of this study was to identify quantitative trait loci (QTLs) associated with seven agronomic and yield traits in two recombinant inbred line populations of chickpea derived from the crosses JG62 × Vijay (JV population) and Vijay × ICC4958 (VI population) from at least three environments. Single locus QTL analysis involved composite interval mapping (CIM) for individual traits and multiple-trait composite interval mapping (MCIM) for correlated traits to detect pleiotropic QTLs. Two-locus analysis was conducted to identify the main effect QTLs (M-QTLs), epistatic... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4300741 Thu, 23 Dec 2010 00:00:00 +0100 4300741 http://www.medworm.com/index.php?rid=4300744&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21170691%26dopt%3DAbstract Authors: Chistiakov DA, Voronova NV, Turakulov RI, Savost'anov KV The human secretoglobin 3A2 (SCGB3A2) gene encoding secretory uteroglobin-related protein 1 (UGRP1) resides on the chromosome region 5q31-33 that harbors a susceptibility locus to several autoimmune and inflammatory diseases, including asthma and Graves' disease (GD). Recently, association between the marker rs1368408 (-112G > A), located in the promoter region of the SCGB3A2 gene, and susceptibility to GD was found in Chinese and UK Caucasians. The study aim was to evaluate whether this polymorphism confers GD susceptibility in a large population cohort comprising 1,474 Russian GD patients and 1,619 controls. The marker rs1368408 was studied using a TaqMan allele discrimination assay. Serum levels of UGRP1 and im... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4300744 Sat, 18 Dec 2010 00:00:00 +0100 4300744 http://www.medworm.com/index.php?rid=4300743&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21170692%26dopt%3DAbstract Authors: Borbon IA, Erickson RP Although Niemann-Pick C1 disease has frequently been called "juvenile Alzheimer's", the effects of introducing Npc1 mutations into a mouse model of Alzheimer's have not previously been performed. We have crossed Npc1 (+/-) mice with APP/PS1 "Alzheimer's" mice and studied Aβ42 accumulation and amyloid plaque formation. Mice heterozygous for Npc1 and positive for the APP and PS1 transgenes accumulated Aβ42 more rapidly than the APP/PS1 controls and this correlated, as expected, with the area of amyloid plaques. We conclude that the alterations of intracellular cholesterol present in Npc1 (+/-) mice can influence the progress of Alzheimer's disease in the APP/PS1 mouse model. PMID: 21170692 [PubMed - as supplied by publisher] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4300743 Sat, 18 Dec 2010 00:00:00 +0100 4300743 http://www.medworm.com/index.php?rid=4266646&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21161624%26dopt%3DAbstract Authors: Larkina TA, Sazanova AL, Fomichev KA, Barkova OY, Malewski T, Jaszczak K, Sazanov AA The expression of nine functional candidates for QT abdominal fat weight and relative abdominal fat content was investigated by real-time polymerase chain reaction (PCR) in the liver, adipose tissue, colon, muscle, pituitary gland and brain of broilers. The high mobility group AT-hook 1 (HMG1A) gene was up-regulated in liver with a ratio of means of 2.90 (P ≤ 0.01) in the «fatty» group (relative abdominal fat content 3.5 ± 0.18%, abdominal fat weight 35.4 ± 6.09 g) relative to the «lean» group (relative abdominal fat content 1.9 ± 0.56%, abdominal fat weight 19.2 ± 5.06 g). Expression of this gene was highly correlated with the relative abdominal fat content (0.... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4266646 Thu, 16 Dec 2010 00:00:00 +0100 4266646 http://www.medworm.com/index.php?rid=4244215&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21136232%26dopt%3DAbstract Authors: Juchimiuk-Kwasniewska J, Brodziak L, Maluszynska J A micronucleus test in combination with fluorescent in situ hybridization (FISH) using telomere-, centromere-specific probes and 5S and 25S rDNA was used for a detailed analysis of the effects of gamma ray irradiation on the root tip meristem cells of barley, Hordeum vulgare (2n = 14). FISH with four DNA probes was used to examine the involvement of specific chromosomes or chromosome fragments in gamma ray-induced micronuclei formation and then to explain their origin. Additionally, a comparison of the possible origin of the micronuclei induced by physical and chemical treatment: maleic hydrazide (MH) and N-nitroso-N-methylurea (MNU) was done. The micronuclei induced by gamma ray could originate from acentric fragments aft... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4244215 Tue, 07 Dec 2010 00:00:00 +0100 4244215 http://www.medworm.com/index.php?rid=4244216&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21128045%26dopt%3DAbstract The objective of the study was to analyze effective population size and inbreeding level in populations of cat breeds registered in the Polish Studbook. The Association of Purebred Cat Breeders in Poland provided access to pedigrees of 26725 cats from seven breeds. The most frequent breed was Persian, however increasing tendency in numbers of registered animals from other breeds was recorded in later years. Although the percentage of inbred individuals was increasing over time, mating of close relatives was avoided by most of the breeders, and the average inbreeding coefficient exceeded 5% only for Siberian and Russian breeds. Current analysis suggests that the Polish pedigree cat populations are not threatened by negative effects of inbreeding. PMID: 21128045 [PubMed - as supplied by ... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4244216 Fri, 03 Dec 2010 00:00:00 +0100 4244216 http://www.medworm.com/index.php?rid=4244217&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21125367%26dopt%3DAbstract Authors: Bukowy Z, Ziętkiewicz E, Witt M Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by the impaired functioning of ciliated cells. Its diagnosis is based on the analysis of the structure and functioning of cilia present in the respiratory epithelium (RE) of the patient. Abnormalities of cilia caused by hereditary mutations closely resemble and often overlap with defects induced by the environmental factors. As a result, proper diagnosis of PCD is difficult and may require repeated sampling of patients' tissue, which is not always possible. The culturing of differentiated cells and tissues derived from the human RE seems to be the best way to diagnose PCD, to study genotype-phenotype relations of genes involved in ciliary dysfunction, as well as other aspects re... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4244217 Thu, 02 Dec 2010 00:00:00 +0100 4244217 http://www.medworm.com/index.php?rid=4244219&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21120647%26dopt%3DAbstract Authors: Myszka A, Karpinski P, Slezak R, Czemarmazowicz H, Stembalska A, Gil J, Laczmanska I, Bednarczyk D, Szmida E, Sasiadek MM CHEK2 gen encodes cell cycle checkpoint kinase 2 that participates in the DNA repair pathway, cell cycle regulation and apoptosis. Mutations in CHEK2 gene may result in kinase inactivation or reduce both catalytic activity and capability of binding other proteins. Some studies indicate that alterations in CHEK2 gene confers increase the risk of breast cancer and some other malignancies, while the results of other studies are inconclusive. Thus the significance of CHEK2 mutations in aetiology of breast cancer is still debatable. The aim of our study was to evaluate the relationship between the breast/ovarian cancer and CHEK2 variants by: i) the analysis of t... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4244219 Wed, 01 Dec 2010 00:00:00 +0100 4244219 http://www.medworm.com/index.php?rid=4244220&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21116770%26dopt%3DAbstract Authors: Pilu R, Cassani E, Sirizzotti A, Petroni K, Tonelli C Mycotoxins are secondary metabolites with potential dangers for animal and human health. In particular, maize (Zea mays L.) infection caused by Fusarium and the consequent fumonisin contamination is widespread in several countries such as Italy. We developed six maize populations differing in their constitution of regulatory genes able to accumulate respectively anthocyanins in the aleurone layer (r1 gene), pericarp (b1 and pl1 genes) and phlobaphene in the pericarp (p1 gene). These coloured populations, with the related control colourless populations were analysed for mycotoxin content in the kernels during three field seasons with the aim of understanding if there were any correlations with their ability to accumulate fla... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4244220 Tue, 30 Nov 2010 00:00:00 +0100 4244220 http://www.medworm.com/index.php?rid=4212039&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21110149%26dopt%3DAbstract In conclusion, we showed that a longitudinal approach allows for estimating changes of the variance contributed by each SNP over time and demonstrated that, for prediction, the pre-selection of SNPs plays an important role. PMID: 21110149 [PubMed - as supplied by publisher] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4212039 Fri, 26 Nov 2010 00:00:00 +0100 4212039 http://www.medworm.com/index.php?rid=4212038&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21110150%26dopt%3DAbstract Authors: Ito M, Yamanouchi K, Naito K, Calos MP, Tojo H Functional lox-like sequences have been identified within the yeast and mammalian genome. These hetero-specific lox sites also allow Cre recombinase to specifically target efficient integration of exogenous DNA into the endogenous pseudo-lox (ψlox) sequences that occur naturally in the host genome using a Cre/loxP integrative recombination system. We investigated whether the Cre/ψlox system is useful for site-specific integration of transgenes and for improving the production efficiency of transgenic animals. This is the first report on Cre-mediated integrative recombination targeting an endogenous lox-like sequence termed pseudo-loxm5 (ψloxm5) in early mouse embryos. We characterized the Cre/ψloxm5 system in embryonic environ... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4212038 Fri, 26 Nov 2010 00:00:00 +0100 4212038 http://www.medworm.com/index.php?rid=4212040&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21108053%26dopt%3DAbstract Authors: Safranow K, Suchy J, Jakubowska K, Olszewska M, Bińczak-Kuleta A, Kurzawski G, Rzeuski R, Czyżycka E, Loniewska B, Kornacewicz-Jach Z, Ciechanowicz A, Chlubek D Previous studies showed an association of the common functional polymorphism (C34T, Gln12Stop) in the adenosine monophosphate deaminase-1 (AMPD1) gene with survival in heart failure (HF) and/or coronary artery disease (CAD). The aim of the study was to search for other mutations in selected regions of the AMPD1 gene in Polish CAD and HF patients, and to analyze their associations with obesity and diabetes. Exons 2, 3, 5, and 7 of AMPD1 were scanned for mutations in 97 patients with CAD without HF (CAD+ HF-), 104 patients with HF (HF+), and 200 newborns from North-Western Poland using denaturing high-performance liqui... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4212040 Thu, 25 Nov 2010 00:00:00 +0100 4212040 http://www.medworm.com/index.php?rid=4212042&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21107786%26dopt%3DAbstract Authors: Koduru VK, Tsuruta S, Lukaszewicz M, Misztal I, Lawlor TJ The purpose of this study was to find ways of reducing changes of sire predicted transmitting ability for type's final scores (PTATs) from the first to second crop of daughters. The PTATs were estimated from two datasets: D01 (scores recorded up to 2001) and D05 (scores recorded up to 2005). The PTAT changes were calculated as the difference between the evaluations based on D01 and D05. The PTATs were adjusted to a common genetic base of all evaluated cows born in 1995. The single-trait (ST) animal model included the fixed effects of the herd-year-season-classifier, age by year group at classification, stage of lactation at classification, registry status of animals, and additive genetic and permanent environment random... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4212042 Tue, 23 Nov 2010 00:00:00 +0100 4212042 http://www.medworm.com/index.php?rid=4212041&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21107787%26dopt%3DAbstract The objective of this study was to develop a prototype oral vaccine formula suitable for human immunization. Herbicide-resistant lettuce was engineered, stably expressing through progeny generation micrograms of S-HBsAg per g of fresh weight and formed into virus-like particles (VLPs). Lyophilized tissue containing a relatively low, 100-ng VLP-assembled antigen dose, administered only orally to mice with a long, 60-day interval between prime and boost immunizations and without exogenous adjuvant, elicited mucosal and systemic humoral anti-HBs responses at the nominally protective level. Lyophilized tissue was converted into tablets, which preserved S-HBsAg content for at least one year of room temperature storage. The results of the study provide indications on immunization methodology usi... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4212041 Tue, 23 Nov 2010 00:00:00 +0100 4212041 http://www.medworm.com/index.php?rid=4212043&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21107780%26dopt%3DAbstract Authors: Pronicka E, Węglewska-Jurkiewicz A, Taybert J, Pronicki M, Szymańska-Dębińska T, Karkucińska-Więckowska A, Jakóbkiewicz-Banecka J, Kowalski P, Piekutowska-Abramczuk D, Pajdowska M, Socha P, Sykut-Cegielska J, Węgrzyn G Deoxyguanosine kinase deficiency (dGK) is a frequent cause of the hepatocerebral form of mitochondrial depletion syndrome (MDS). A group of 28 infants with severe progressive liver failure of unknown cause was recruited for post mortem search for deoxyguanosine kinase (DGUOK) gene mutations. Four affected patients (14% of the studied group), two homozygotes, one compound heterozygote, and one heterozygote, with DGUOK mutation found on only one allele, were identified. Three known pathogenic mutations in the DGUOK gene were detected, c.3G>A (p.Met1Ile)... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4212043 Tue, 16 Nov 2010 00:00:00 +0100 4212043 http://www.medworm.com/index.php?rid=4163719&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21063058%26dopt%3DAbstract Authors: Jiang QT, Wei YM, Andre L, Lu ZX, Pu ZE, Peng YY, Zheng YL Sixty-two DNA sequences for the coding regions of omega-secalin (ω-secalin) genes have been characterized from rye (Secale cereale L.), hexaploid and octoploid triticale (× Triticosecale Wittmack), and wheat (Triticum aestivum L.) 1BL/1RS translocation line. Only 19 out of the 62 &omega-secalin gene sequences were full-length open reading frames (ORFs), which can be expressed into functional proteins. The other 43 DNA sequences were pseudogenes, as their ORFs were interrupted by one or a few stop codons or frameshift mutations. The 19 ω-secalin genes have a typical primary structure, which is different from wheat gliadins. There was no cysteine residue in ω-secalin proteins, ... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4163719 Sun, 14 Nov 2010 16:40:04 +0100 4163719 http://www.medworm.com/index.php?rid=4163718&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21063059%26dopt%3DAbstract Authors: Apolinarska B, Wisniewska H, Wojciechowska B The valuable genes of Aegilops biuncialis, Ae. ovata, Ae. kotschyi, and Ae. variabilis were transferred to rye, by crossing Aegilops-rye amphiploids with tetraploid and diploid substitution rye. The C-banded karyotype of the BC1 and BC2 generations of amphiploids with 4x substitution rye and BC1 with 2x substitution rye showed great variation in chromosome number and composition. In the BC1 generation of amphiploids with 4x and 2x substitution rye, seed set success rate and germination rate varied depending on origin. However, plant sterility in all cross combinations of amphiploids with 4x and 2x substitution rye resulted in their elimination from further experiments in the BC3 and BC2 generations, respectively. In backcrosses of 4... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4163718 Sun, 14 Nov 2010 16:40:04 +0100 4163718 http://www.medworm.com/index.php?rid=4163717&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21063060%26dopt%3DAbstract The objective of this study was to identify quantitative trait loci (QTLs) controlling kernel traits in hexaploid wheat. We recorded 1000-kernel weight, kernel length, and kernel width for 185 recombinant inbred lines from the cross Rye Selection 111 × Chinese Spring grown in 2 agro-climatic regions in India for many years. Composite interval mapping (CIM) was employed for QTL detection using a linkage map with 169 simple sequence repeat (SSR) markers. For 1000-kernel weight, 10 QTLs were identified on wheat chromosomes 1A, 1D, 2B, 2D, 4B, 5B, and 6B, whereas 6 QTLs for kernel length were detected on 1A, 2B, 2D, 5A, 5B and 5D. Chromosomes 1D, 2B, 2D, 4B, 5B and 5D had 9 QTLs for kernel width. Chromosomal regions with QTLs detected consistently for multiple year-location combinati... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4163717 Sun, 14 Nov 2010 16:40:04 +0100 4163717 http://www.medworm.com/index.php?rid=4163716&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21063061%26dopt%3DAbstract We examined the main storage products and gene expression patterns that may embody compositional differences between two wild species Aegilops crassa and Aegilops tauschii and cultivated bread wheat. The storage product profiles differed significantly with T. aestivum accumulating twice as much carbon as the wild species, while the latter had 1.5 to 2-fold more total nitrogen per seed. Transcriptional analyses of endosperms of similar fresh weight were compared using a cDNA macroarray. Aegilops tauschii, and especially Ae. crassa had stronger hybridizations with storage protein sequences, but while there were differences in transcripts for starch biosynthetic genes, they were less dramatic. Of these, we cloned the Starch Branching Enzymes (SBE) IIa promoter region and the genomic clone of ... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4163716 Sun, 14 Nov 2010 16:40:04 +0100 4163716 http://www.medworm.com/index.php?rid=4163715&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21063062%26dopt%3DAbstract This study focuses on the variability of chromosomal location and number of ribosomal DNA (rDNA) sites in some diploid and autotetraploid Festuca pratensis and Lolium perenne cultivars, as well as on identification of rDNA-bearing chromosomes in their triploid and tetraploid F. pratensis × L. perenne hybrids. The rDNA loci were mapped using fluorescence in situ hybridization (FISH) with 5S and 25S rDNA probes, and the origin of parental genomes was verified by genomic in situ hybridization (GISH) with L. perenne genomic DNA as a probe, and F. pratensis genomic DNA as a block. FISH detected variation in the number and chromosomal location of both 5S and 45S rDNA sites. In F. pratensis mostly additional signals of 5S rDNA loci occurred, as compared with standard F. pratensis karyot... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4163715 Sun, 14 Nov 2010 16:40:04 +0100 4163715 http://www.medworm.com/index.php?rid=4163714&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21063063%26dopt%3DAbstract Authors: Carvalho M, Ribeiro T, Viegas W, Morais-Cecilio L, Rocheta M The main difference between LTR retrotransposons and retroviruses is the presence of the envelope (env) gene in the latter, downstream of the pol gene. The env gene is involved in their infectious capacity. Here we report the presence of env-like sequences in the genome of Quercus suber (cork oak), one of the most economically important Portuguese species. These gene sequences were isolated through DNA amplification between RNaseH conserved motifs and 3' LTR, based on the structure of copia retrotransposons. Phylogenetic analysis revealed that almost all the clones isolated are clustered with Cyclops-2, a Ty3-gypsy element identified in Pisum sativum, except one clustered with gypsy and copia retroelements found in d... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4163714 Sun, 14 Nov 2010 16:40:04 +0100 4163714 http://www.medworm.com/index.php?rid=4163713&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21063064%26dopt%3DAbstract Authors: Soroka M, Burzynski A Mitochondrial genomes are frequently used to infer phylogenetic relationships. Some taxa are, however, poorly represented. To facilitate better understanding of the potential of mitochondrial genome data in freshwater mussels, we present here, for the first time, the mitochondrial sequences of 4 complete F-type mitochondrial genomes from the European freshwater bivalve Unio pictorum (Unionidae). These genomes are very compact (15 761 bp) but have a typical gene complement for bilaterian mitochondrial genomes and a very similar organization to other unionid genomes available in databases. Very low nucleotide diversity within the species suggests a small effective population size of Polish U. pictorum, a phenomenon of potential importance for environmental ... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4163713 Sun, 14 Nov 2010 16:40:04 +0100 4163713 http://www.medworm.com/index.php?rid=4163712&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21063065%26dopt%3DAbstract This study was aimed to detect transcriptomic variations related to O3I in muscles in 15-month-old males of 4 Spanish cattle breeds raised under the same conditions. Through the analysis of extreme O3I phenotypes, 3 genes of interest (AANAT, UCP2 and AHA1) were identified. AANAT and UCP2 were strongly up-regulated, while AHA1 was repressed in animals with a high O3I. Moreover, gene expression differed between GDF8-null animal muscles (tested for nt821del11 and Q204X mutations) and the wild-type muscles for genes GDH1, IGF2R, FADS1, ASPH, and AIM1, all showing down-regulation in Asturiana de los Valles calves with muscle hypertrophy (GDF8-null). This shows that in GDF8-null animals other pathways are used for FA synthesis. PMID: 21063065 [PubMed - in process] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4163712 Sun, 14 Nov 2010 16:40:04 +0100 4163712 http://www.medworm.com/index.php?rid=4163711&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21063066%26dopt%3DAbstract Authors: Penasa M, Cecchinato A, Battagin M, Marchi M, Pretto D, Cassandro M The aim of the study was to infer (co)variance components for daily milk yield, fat and protein contents, and somatic cell score (SCS) in Burlina cattle (a local breed in northeast Italy). Data consisted of 13 576 monthly test-day records of 666 cows (parities 1 to 8) collected in 10 herds between 1999 and 2009. Repeatability animal models were implemented using Bayesian methods. Flat priors were assumed for systematic effects of herd test date, days in milk, and parity, as well as for permanent environmental, genetic, and residual effects. On average, Burlina cows produced 17.0 kg of milk per day, with 3.66 and 3.33% of fat and protein, respectively, and 358 000 cells per mL of milk. Marginal poste... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4163711 Sun, 14 Nov 2010 16:40:04 +0100 4163711 http://www.medworm.com/index.php?rid=4163710&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21063067%26dopt%3DAbstract This report emphasizes the need to verify the data on physical localization of genes in the cattle genome (at least by taking into account comparative data reported in available papers) and the need to improve the cattle genome assembly. Our results indicate that FISH mapping in cattle is still useful. PMID: 21063067 [PubMed - as supplied by publisher] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4163710 Sun, 14 Nov 2010 16:40:04 +0100 4163710 http://www.medworm.com/index.php?rid=4163709&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21063068%26dopt%3DAbstract Authors: Shah AA, Meese E, Blin N A class of small, non-coding ribonucleic acids, termed microRNA (miRNA), has recently emerged as a new key player in the cellular control of gene expression. By either blocking translation or inducing target mRNA degradation, miRNA not only participates in regular biological processes within cells and tissues but is also involved in pathological processes. Many human malignancies have been linked to specific miRNA expression patterns, raising hopes for new approaches to therapy. While such human disease-related mechanisms have been widely discussed and frequently reviewed, miRNA's general significance in animals has been less in editorial focus, despite its obvious role in basic physiological processes, e.g. neurosensory maturation, development of fert... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4163709 Sun, 14 Nov 2010 16:40:04 +0100 4163709 http://www.medworm.com/index.php?rid=4163708&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21063069%26dopt%3DAbstract Authors: Wang KS, Mullersman JE, Liu XF The MAPT gene has been shown to be associated with several neurodegenerative disorders, including forms of parkinsonism and Parkinson disease (PD), but the results reveal population differences. We investigated the association of 10 single-nucleotide polymorphisms (SNPs) in the region of MAPT on chromosome 17q21 with PD and age at onset, by using 443 discordant sib pairs in PD from a public dataset (Mayo-Perlegen LEAPS Collaboration). Association with PD was assessed by the FBAT using generalized estimating equations (FBAT-GEE), while the association with age at onset as a quantitative trait was evaluated using the FBAT-logrank statistic. Five SNPs were significantly associated with PD (P < 0.05) in an additive model, and 9 SNPs were assoc... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4163708 Sun, 14 Nov 2010 16:40:04 +0100 4163708 http://www.medworm.com/index.php?rid=4163707&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21063070%26dopt%3DAbstract In this study, we aimed to genotype and explore the yield of genetic testing of LQTS patients from Greece, for whom there are no collective published data available. We clinically evaluated and genetically screened 17 unrelated patients for mutations in the KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 cardiac ion channel genes. Genetic testing was positive in 6 out of 8 patients with a highly probable clinical diagnosis of LQTS and negative for all the other patients. Two patients carried KCNQ1 mutations (c.580G>C, c.1022C>T), while 4 patients carried KCNH2 mutations (c.202T>C, c.1714G>A, c.3103delC, c.3136C>T). To the best of our knowledge, the last mentioned mutation (c.3136C>T) is novel. Moreover, 27 single-nucleotide polymorphisms (SNPs) were detected... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4163707 Sun, 14 Nov 2010 16:40:04 +0100 4163707 http://www.medworm.com/index.php?rid=4163704&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21063071%26dopt%3DAbstract In this study, we investigated the association of four N-methylpurine-DNA glycosylase (MPG) gene polymorphisms (rs3176364, rs710079, rs2858056, and rs2541632) with susceptibility to RA in 384 Taiwanese individuals (192 RA patients and 192 control subjects). Our data show a statistically significant difference in genotype frequency distributions at rs710079 and rs2858056 SNPs between RA patients and control groups (P = 0.040 and 0.029, respectively). Our data also indicated that individuals with the GG genotype at rs2858056 SNP may have a higher risk of developing RA. In addition, compared with the haplotype frequencies between case and control groups, individuals with the GCGC haplotype appeared to be at a greater risk of RA progression (P = 0.003, OR = 1.75; 95% CI = 1.20-1.55)... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4163704 Sun, 14 Nov 2010 16:40:04 +0100 4163704 http://www.medworm.com/index.php?rid=4163703&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D21063072%26dopt%3DAbstract We report on a Thai girl who first presented with chronic diarrhea, recurrent pneumonia, and severe failure to thrive, without apparently disproportionate dwarfism. The diagnosis of CHH was made after the severe wasting was corrected, and disproportionate growth became noticeable. The patient had the typical features of CHH, including sparse hair and metaphyseal abnormalities. The immunologic profiles were consistent with combined immune deficiency. Mutation analysis identified a novel homozygous mutation, g.-19_-25 dupACTACTC, in the promoter region of the RMRP gene. Identification of the mutation enabled us to provide a prenatal diagnosis in the subsequent pregnancy. This patient is the first CHH case with the characteristic features due to the homozygous mutation in the promoter region ... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=4163703 Sun, 14 Nov 2010 16:40:04 +0100 4163703 http://www.medworm.com/index.php?rid=3897163&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20720298%26dopt%3DAbstract This study was undertaken to determine the inheritance, chromosomal location and molecular mapping of a tan spot resistance gene in Red Chief. χ<sup>2</sup> analysis of the F2 segregation data of the hybrids between 21 monosomic lines of the susceptible wheat cultivar Chinese Spring and the resistant cultivar Red Chief revealed that tan spot resistance in cv. Red Chief is controlled by a single recessive gene located on chromosome 3A. Linkage analysis using SSR markers in the Red Chief/Chinese Spring F2 population showed that the tsr4 gene is clustered in the region around Xgwm2a, on the short arm of chromosome 3A. This marker has also been identified as the closest marker to the tsr3 locus on chromosome 3D in synthetic wheat lines. Validation analysis o... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3897163 Wed, 25 Aug 2010 05:30:04 +0100 3897163 http://www.medworm.com/index.php?rid=3897162&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20720299%26dopt%3DAbstract We report on generation of marker-free (‘clean DNA’) transgenic rice (Oryza sativa), carrying minimal gene-expression-cassettes of the genes of interest, and evaluation of its resistance to yellow stem borer Scirpophaga incertulas (Lepidoptera: Pyralidae). The transgenic indica rice harbours a translational fusion of 2 different Bacillus thuringiensis (Bt) genes, namely cry1B-1Aa, driven by the green-tissue-specific phosphoenol pyruvate carboxylase (PEPC) promoter. Mature seed-derived calli of an elite indica rice cultivar Pusa Basmati-1 were co-bombarded with gene-expression-cassettes (clean DNA fragments) of the Bt gene and the marker hpt gene, to generate marker-free transgenic rice plants. The clean DNA fragments for bombardment were obtained by restriction digestio... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3897162 Wed, 25 Aug 2010 05:30:04 +0100 3897162 http://www.medworm.com/index.php?rid=3897161&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20720300%26dopt%3DAbstract Authors: Hao DC, Chen SL, Xiao PG The psbA-trnH intergenic region is among the most variable regions in the gymnosperm chloroplast genome. It is proposed as suitable for DNA barcoding studies and is useful in phylogenetics at the species level. This region consists of two parts differing in their evolutionary characteristics: 1) the psbA 3’UTR (untranslated region) and 2) the psbA-trnH intergenic spacer. We compared the sequence and RNA secondary structure of the psbA 3’ UTR across gymnosperms and found consensus motifs corresponding to the stem portions of the RNA stem-loop structures and a consensus TGGATTGTTATGT box. The psbA-trnH spacer is highly variable in length and composition. Tandem repeats that form stem-loop structures were detected in both the psbA 3&am... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3897161 Wed, 25 Aug 2010 05:30:04 +0100 3897161 http://www.medworm.com/index.php?rid=3897160&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20720301%26dopt%3DAbstract In this study, based on the expressed sequence tag (EST) of Pinus radiata (Monterey pine), we obtained all the sequences of UTRs of the actin gene by using a chromosome walking method. We also detected all the SNPs in and around the coding region of the actin gene. In this way, the full genomic sequence (2154 bp) of the actin gene was identified, including the 5’UTR, introns, the coding sequence, and the 3’UTR. PCR amplification and DNA fragment sequencing from 200 unrelated P. radiata trees revealed a total of 21 SNPs in the actin gene, of which 3 were located in the 5’UTR, 3 in the introns, 10 in the coding sequence, and 5 in the 3’UTR. We show that chromosome walking can be used for obtaining the sequence of UTRs, and then, based on this sequence,... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3897160 Wed, 25 Aug 2010 05:30:04 +0100 3897160 http://www.medworm.com/index.php?rid=3897159&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20720302%26dopt%3DAbstract Authors: Myskow B, Stojalowski S, Milczarski P, Masojc P Location of the loci that control preharvest sprouting and alpha-amylase activity in rye was studied based on intercross S120×S76, consisting of 110 genotypes of F2 and F3 progenies. The genetic map currently consists of 141 loci distributed in 11 linkage groups, covering a distance of 506.4 cM, and was enriched during this study with 24 sequence-specific markers (7 SCARs, 7 SSRs, and 10 STSs). The extended map was applied for composite interval mapping of the loci controlling preharvest sprouting and α-amylase activity, revealing 3 significant QTLs for preharvest sprouting, located on chromosomes 3R, 5R and 6R (in 1999), and one QTL for α-amylase activity found on chromosome 2R (in 2000). PMID: ... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3897159 Wed, 25 Aug 2010 05:30:04 +0100 3897159 http://www.medworm.com/index.php?rid=3897158&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20720303%26dopt%3DAbstract Authors: Braunschweig MH The progress in molecular genetics in animal breeding is moderately effective as compared to traditional animal breeding using quantitative genetic approaches. There is an extensive disparity between the number of reported quantitative trait loci (QTLs) and their linked genetic variations in cattle, pig, and chicken. The identification of causative mutations affecting quantitative traits is still very challenging and hampered by the cloudy relationship between genotype and phenotype. There are relatively few reports in which a successful identification of a causative mutation for an animal production trait was demonstrated. The examples that have attracted considerable attention from the animal breeding community are briefly summarized and presented in a table.... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3897158 Wed, 25 Aug 2010 05:30:04 +0100 3897158 http://www.medworm.com/index.php?rid=3897157&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20720304%26dopt%3DAbstract In this study, full-length cDNA (2237 bp) and DNA sequence (24 541 bp) of the porcine SLC6A14 gene were isolated. The porcine SLC6A14 cDNA contains a 5’-untranslated region of 57 bp, a 3’-untranslated region of 254 bp, and an open reading frame of 1926 bp, encoding a deduced protein of 642 amino acids with a molecular mass of 72. 475 kDa and an isoelectric point of 7.82. The genomic structure of the porcine SLC6A14 gene is similar to mammalian orthologs, particularly in terms of exon size and exon/intron boundaries. It comprises 14 exons and 13 introns. A semi-quantitative RT-PCR showed that the porcine SLC6A14 mRNA expression was tissue-specific. Four SLC6A14 single-nucleotide polymorphisms (SNPs) were identified, and 3 informative SNPs were chosen for genotyping in a ... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3897157 Wed, 25 Aug 2010 05:30:04 +0100 3897157 http://www.medworm.com/index.php?rid=3897156&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20720305%26dopt%3DAbstract Authors: Ocalewicz K, Dobosz S, Kuzminski H, Nowosad J, Goryczko K The purpose of this work was to quantify the impact of spontaneous and X-radiation-induced chromosome rearrangements on survival rate of androgenetic rainbow trout (Oncorhynchus mykiss). Various doses of X irradiation (50, 150, 250, 350 Gy) were used for inactivation of nuclear DNA in oocytes. After the irradiation, eggs were inseminated with normal sperm from 4 males derived from a strain characterized by Robertsonian rearrangements and length polymorphism of the Y chromosome. The haploid zygotes were exposed to a high hydrostatic pressure (7000 psi) to duplicate the paternal DNA. Neither Robertsonian chromosome polymorphism nor the Y chromosome morphology impaired the viability of the androgenetic embryos and alevins.... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3897156 Wed, 25 Aug 2010 05:30:04 +0100 3897156 http://www.medworm.com/index.php?rid=3897155&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20720306%26dopt%3DAbstract Authors: Lorenzi L, Genualdo V, Perucatti A, Meo G, Molteni L, Iannuzzi L, Parma P R-spondins constitute a recently discovered small family of growth factors, and the evidence of their role in several developmental pathways is growing fast. In this work we describe the chromosomal location of the four RSPO genes in the donkey. Using horse BACs, we localized RSPO1 on EAS 5q23, RSPO2 on EAS 12q13, RSPO3 on EAS 24q26, and RSPO4 on EAS 15p13. Moreover, RSPO2, RSPO3, and RSPO4 are the first genes mapped on donkey chromosomes 12, 24, and 15, respectively. PMID: 20720306 [PubMed - as supplied by publisher] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3897155 Wed, 25 Aug 2010 05:30:04 +0100 3897155 http://www.medworm.com/index.php?rid=3897154&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20720307%26dopt%3DAbstract Authors: Czerska K, Sobczynska-Tomaszewska A, Sands D, Nowakowska A, Bak D, Wertheim K, Poznanski J, Zielenski J, Norek A, Bal J Cystic fibrosis (CF) is one of the most common autosomal recessive diseases among Caucasians caused by a mutation in the CFTR gene. However, the clinical outcome of CF pulmonary disease varies remarkably even in patients with the same CFTR genotype. This has led to a search for genetic modifiers located outside the CFTR gene. The aim of this study was to evaluate the effect of functional variants in prostaglandin-endoperoxide synthase genes (COX1 and COX2) on the severity of lung disease in CF patients. To the best of our knowledge, it is the first time when analysis of COX1 and COX2 as potential CF modifiers is provided. The study included 94 CF patients hom... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3897154 Wed, 25 Aug 2010 05:30:04 +0100 3897154 http://www.medworm.com/index.php?rid=3897153&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20720308%26dopt%3DAbstract We report on a 13-month-old girl showing dysmorphic features and a delay in psychomotor development. She was diagnosed with a balanced de novo translocation 46,X,t(X;13)(p11.2;p13) and non-random inactivation of the X chromosome. FISH analysis, employing the X chromosome centromere and XIST-region-specific probes, showed that the XIST locus was not involved in the translocation. Selective inactivation of paternal X, which was involved in translocation, was revealed by the HUMARA assay. The pattern of methylation of 5 genes located within Xp, which are normally silenced on an inactive X chromosome, corresponded to an active (unmethylated) X chromosome. These results revealed that in our proband the X chromosome involved in translocation (Xt) was preferentially inactivated. However, genes lo... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3897153 Wed, 25 Aug 2010 05:30:04 +0100 3897153 http://www.medworm.com/index.php?rid=3897152&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20720309%26dopt%3DAbstract Authors: Adler G, Parczewski M, Czerska E, Loniewska B, Kaczmarczyk M, Gumprecht J, Grzeszczak W, Szybinska A, Mossakowska M, Ciechanowicz A Factor V Leiden (G1691A FV mutation) is a widely acknowledged risk factor of deep vein thrombosis, including pulmonary embolism as the most serious complication. However, its high prevalence of ~5% in the Caucasian population might be related to an unknown evolutionary advantage. It might exert a beneficial effect on the carrier, e.g. protecting women from excessive bleeding during labour or allowing increased survival in severe sepsis or with other inflammatory diseases. The aim of our study was to verify or contradict the hypothesis of a favourable association between the A allele (A1691) and longevity in the Polish population. For th... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3897152 Wed, 25 Aug 2010 05:30:04 +0100 3897152 http://www.medworm.com/index.php?rid=3897151&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20720310%26dopt%3DAbstract Authors: Jelonek K, Gdowicz-Klosok A, Pietrowska M, Borkowska M, Korfanty J, Rzeszowska-Wolny J, Widlak P Single-nucleotide polymorphisms in genes involved in DNA-damage-induced responses are reported frequently to be a risk factor in various cancer types. Here we analysed polymorphisms in 5 genes involved in DNA repair (XPD Asp312Asn and Lys751Gln, XRCC1 Arg399Gln, APE1 Asp148Glu, NBS1 Glu185Gln, and XPA G-4A) and in a gene involved in regulation of the cell-cycle (CCND1 A870G). We compared their frequencies in groups of colon, head and neck, and breast cancer patients, and 2 healthy control groups: (1) matched healthy Polish individuals and (2) a NCBI database control group. Highly significant differences in the distribution of genotypes of the APE1, XRCC1 and CCND1 genes were found ... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3897151 Wed, 25 Aug 2010 05:30:04 +0100 3897151 http://www.medworm.com/index.php?rid=3897150&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20720311%26dopt%3DAbstract In conclusion, the identification of genes that are differentially expressed in peripheral blood nuclear cells of patients with HF supports the suggestion that this diagnostic approach may be useful in searching for the molecular predisposition for development of severe refractory HF in patients with post-infarction asymptomatic abnormalities and remodelling of the left ventricle. These results need further investigation and validation. PMID: 20720311 [PubMed - in process] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3897150 Wed, 25 Aug 2010 05:30:04 +0100 3897150 http://www.medworm.com/index.php?rid=3897149&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20720312%26dopt%3DAbstract Authors: Nagorska K, Ostrowski A, Hinc K, Holland IB, Obuchowski M Unicellular organisms naturally form multicellular communities, differentiate into specialized cells, and synchronize their behaviour under certain conditions. Swarming, defined as a movement of a large mass of bacteria on solid surfaces, is recognized as a preliminary step in the formation of biofilms. The main aim of this work was to study the role of a group of genes involved in exopolysaccharide biosynthesis during pellicle formation and swarming in Bacillus subtilis strain 168. To assess the role of particular proteins encoded by the group of epsI-epsO genes that form the eps operon, we constructed a series of insertional mutants. The results obtained showed that mutations in epsJ-epsN, but not in the last gene of ... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3897149 Wed, 25 Aug 2010 05:30:04 +0100 3897149 http://www.medworm.com/index.php?rid=3897148&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20720313%26dopt%3DAbstract This study investigated the role of 2 membrane-bound oxidoreductases, DsbB and DsbI, in the Campylobacter jejuni oxidative Dsb pathway. Campylobacter mutants, lacking DsbB or DsbI or both, were constructed by allelic replacement and used in the human intestinal epithelial T84 cell line for the gentamicin protection assay (invasion assay) and chicken colonization experiments. In C. coli strain 23/1, the inactivation of the dsbB or dsbI gene separately did not significantly affect the colonization process. However, simultaneous disruption of both membrane-bound oxidoreductase genes significantly decreased the strain’s ability to colonize chicken intestines. Moreover, C. jejuni strain 81-176 with mutated dsbB or dsbI genes showed reduced invasion/intracellular survival abilities. No... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3897148 Wed, 25 Aug 2010 05:30:04 +0100 3897148 http://www.medworm.com/index.php?rid=3897145&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20720314%26dopt%3DAbstract Authors: Pandya PR, Singh KM, Parnerkar S, Tripathi AK, Mehta HH, Rank DN, Kothari RK, Joshi CG Bacterial communities in buffalo rumen were characterized using a culture-independent approach for a pooled sample of rumen fluid from 3 adult Surti buffaloes. Buffalo rumen is likely to include species of various bacterial phyla, so 16S rDNA sequences were amplified and cloned from the sample. A total of 191 clones were sequenced and similarities to known 16S rDNA sequences were examined. About 62.82% sequences (120 clones) had >90% similarity to the 16S rDNA database sequences. Furthermore, about 34.03% of the sequences (65 clones) were 85-89% similar to 16S rDNA database sequences. For the remaining 3.14%, the similarity was lo... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3897145 Wed, 25 Aug 2010 05:30:04 +0100 3897145 http://www.medworm.com/index.php?rid=3869121&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20453304%26dopt%3DAbstract Transcriptomic "portraits" of canine mammary cancer cell lines with various phenotypes. J Appl Genet. 2010;51(2):169-83 Authors: Król M, Pawłowski KM, Skierski J, Turowski P, Majewska A, Polańska J, Ugorski M, Morty RE, Motyl T In light of the high incidence of mammary cancer in dogs and completion of the canine genome sequencing, the new possibilities of gene profiling by using DNA microarrays give hope to veterinary oncology. The cell lines isolated from mammary tumors are a valuable tool in developing and testing new pathway-specific cancer therapeutics. Differential cytometric analysis of 6 canine mammary cancer cell lines was performed. We divided cell lines into 3 groups based on their phenotype: 2 lines with high proliferative potential, 2 lines with high antiap... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3869121 Mon, 16 Aug 2010 17:24:02 +0100 3869121 http://www.medworm.com/index.php?rid=3578190&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20145297%26dopt%3DAbstract Authors: Huehn M The majority of published genetic maps are based on Kosambi distances or on Haldane distances. For a comparison of both map distance measures, their random variability is of particular interest. For the statistic 'variance', this paper presents a relationship between Kosambi distances and Haldane distances. The results suggest that Kosambi distances exhibit a smaller random variability. The theoretical results are applied to an experimental data set for molecular AFLP markers linked to the bolting gene of sugar beet (Beta vulgaris L.). PMID: 20145297 [PubMed - indexed for MEDLINE] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3578190 Thu, 20 May 2010 03:03:02 +0100 3578190 http://www.medworm.com/index.php?rid=3578189&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20145305%26dopt%3DAbstract This study aimed to define quantitatively the association between salt-sensitivity and alpha-adducin Gly460Trp polymorphism in all published case-control studies. Publications from PubMed and other databases were retrieved. The major inclusion criteria were: (1) case-control design; (2) salt-sensitivity confirmed by sodium loading tests, and (3) the distribution of genotypes given in detail. Seven case-control studies fulfilled the inclusion criteria. In total they involved 820 subjects (454 salt-sensitive and 366 non-salt-sensitive). The meta-analysis shows that Gly460Trp polymorphism in general is not significantly associated with salt-sensitivity [OR (95%CI): 1.40 (0.96, 2.04), P = 0.08]. Subgroup analysis showed that the association is statistically significant in Asian people [OR (95%... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3578189 Thu, 20 May 2010 03:03:02 +0100 3578189 http://www.medworm.com/index.php?rid=3553197&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20453298%26dopt%3DAbstract Authors: Fu S, Tang Z, Ren Z, Zhang H One hundred wheat lines, derived from monosomic additions of chromosome 1R of rye inbred line R12 (Chinese rye), were detected by PCR amplification using rye-specific primer pairs. Only 5 wheat lines, 1R296, 1R330, 1R314, 1R725, and 1R734, were determined to contain rye chromatin. While 1R296 and 1R330 were highly susceptible to stripe rust and powdery mildew, 1R314, 1R725 and 1R734 were highly resistant to both diseases. Acid-polyacrylamide gel electrophoresis showed that the ω-secalin bands were absent in 1R314, but present in the other 4 wheat lines. Genomic in situ hybridization indicated that 1R296, 1R330, and 1R725 contained translocations involving the whole short arm of chromosome 1R. However, 1R314 and 1R734 contained a pair of w... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3553197 Wed, 12 May 2010 09:44:03 +0100 3553197 http://www.medworm.com/index.php?rid=3553196&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20453299%26dopt%3DAbstract The objective of the presented research was to study the amplification of a set of 73 SSRs from B. nigra (L.) Koch and B. napus L. in B. carinata, and to compare the results with those obtained in the amplification of the same markers in other Brassica species of the U triangle. This set of SSRs from B. nigra (B genome) and B. napus (AC genome) allows the identification of the 3 basic genomes of the Brassica species tested. 94.3% of the SSR markers from B. nigra and 97.4% of those from B. napus amplified SSR-specific products in B. carinata. Very high-quality amplification with a strong signal and easy scoring in B. carinata was recorded for 52.8% of the specific loci from B. nigra SSRs and 59.3% of the specific loci from B. napus SSRs, compared to 66.7% in B. nigra and 62.8% in B. napus. ... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3553196 Wed, 12 May 2010 09:44:03 +0100 3553196 http://www.medworm.com/index.php?rid=3553195&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20453300%26dopt%3DAbstract Authors: Sliwka J, Jakuczun H, Kaminski P, Zimnoch-Guzowska E The Rpi-phu1 gene originates from an interspecific hybrid between Solanum stenotomum and S. phureja, and confers a high level of resistance to Phytophthora infestans (late blight) in potato. The Rpi-phu1 was introduced by crossing at the diploid level into the S. tuberosum gene pool and then transferred to the tetraploid level by means of 2n gametes. Tetraploid lines carrying the Rpi-phu1 were selected for further crosses. A molecular marker GP94, linked in mapping population 97-30 with the Rpi-phu1 (6.4 cM), was applied to other unselected populations (2 diploid and 1 tetraploid), and was shown to be useful in marker-assisted selection (MAS) of the resistant individuals. GP94 was applied also in commercial breeding in 2 tet... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3553195 Wed, 12 May 2010 09:44:03 +0100 3553195 http://www.medworm.com/index.php?rid=3553194&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20453301%26dopt%3DAbstract Authors: Gorecka K, Kowalska U, Krzyzanowska D, Kiszczak W Microspores were cultured on the modified B5 liquid medium containing 2.4D (0.1 mg L<sup>-1</sup>), NAA (0.1 mg L<sup>-1</sup>), L-glutamine (500 mg L<sup>-1</sup>), L-serine (100 mg L<sup>-1</sup>), and sucrose (100 g L<sup>-1</sup>). The developmental stages of microspores and divisions were observed. Initially, the formation of binuclear and multicellular structures was noticed. Plants regenerated in the cultures in which the tetrad stage of microsporogenesis had predominated. Embryoids were still forming 24 weeks after the cultures were set up. Six weeks after the transfer of androgenet... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3553194 Wed, 12 May 2010 09:44:03 +0100 3553194 http://www.medworm.com/index.php?rid=3553193&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20453302%26dopt%3DAbstract Authors: Szakacs E, Molnar-Lang M The genetic stability of wheat/rye (‘Chinese Spring’/‘Imperial’) disomic addition lines was checked using the Feulgen method and fluorescent in situ hybridization (FISH). Feulgen staining detected varying proportions of disomic, monosomic, and telosomic plants among the progenies of the disomic addition lines. The greatest stability was observed for the 7R addition line, while the most unstable lines were those with 2R and 4R additions. Chromosome rearrangements were also detected using FISH. Based on the specific hybridization patterns of repetitive DNA probes pSc119.2 and (AAC)5, as well as ribosomal DNA probes (5S and 45S), isochromosomes were identified in the progenies of 1R and 4R addition lines. The result... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3553193 Wed, 12 May 2010 09:44:03 +0100 3553193 http://www.medworm.com/index.php?rid=3553192&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20453303%26dopt%3DAbstract Authors: Switonski M, Stachowiak M, Cieslak J, Bartz M, Grzes M Fatness traits are important in pig production since they influence meat quality and fattening efficiency. On the other hand, excessive fat accumulation in humans has become a serious health problem due to worldwide spread of obesity. Since the pig is also considered as an animal model for numerous human diseases, including obesity and metabolic syndrome, comparative genomic studies may bring new insights into genetics of fatness/obesity. Input of genetic factors into phenotypic variability of these traits is rather high and the heritability coefficient (h<sup>2</sup>) of these traits oscillates around 0.5. Genome scanning revealed the presence of more than 500 QTLs for fatness in the pig genome... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3553192 Wed, 12 May 2010 09:44:03 +0100 3553192 http://www.medworm.com/index.php?rid=3553191&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20453304%26dopt%3DAbstract Authors: Krol M, Pawlowski KM, Skierski J, Turowski P, Majewska A, Polanska J, Ugorski M, Morty RE, Motyl T In light of the high incidence of mammary cancer in dogs and completion of the canine genome sequencing, the new possibilities of gene profiling by using DNA microarrays give hope to veterinary oncology. The cell lines isolated from mammary tumors are a valuable tool in developing and testing new pathway-specific cancer therapeutics. Differential cytometric analysis of 6 canine mammary cancer cell lines was performed. We divided cell lines into 3 groups based on their phenotype: 2 lines with high proliferative potential, 2 lines with high antiapoptotic potential, and 2 lines with high metastatic potential. DNA microarray analysis revealed common genes for cell lines of each group... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3553191 Wed, 12 May 2010 09:44:03 +0100 3553191 http://www.medworm.com/index.php?rid=3553190&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20453305%26dopt%3DAbstract Authors: Nie QH, Fang MX, Xie L, Shen X, Liu J, Luo ZP, Shi JJ, Zhang XQ Adipose triglyceride lipase (ATGL) catalyses the initial step in triglyceride hydrolysis, so the ATGL gene is a candidate for growth and fat traits in chickens. Nine reported single-nucleotide polymorphisms (SNPs) located in 3 exons of the chicken ATGL gene were chosen for genotyping an F2 population. Only 5 SNPs were confirmed for polymorphisms and used for association analyses. The results show that c.531G>A (p.E177Syn) was not associated with any growth and fat traits (P > 0.05), but c.782G>A (p.S261N) was associated with body weight (BW) on days 14, 21, 35, 63, 70, 77, cingulated fat width and abdominal fat pad weight (P < 0.05), and significantly associated with BW on days 42, 49, and 56 (P < 0... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3553190 Wed, 12 May 2010 09:44:03 +0100 3553190 http://www.medworm.com/index.php?rid=3553189&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20453306%26dopt%3DAbstract This study examines the methylation status and expression levels of the Mc4r gene in response to a standard and a high-fat diet in the obese Berlin fat mouse inbred (BFMI) line and the lean C57BL/6NCrl (B6) line of Mus musculus. The methylation status of CpG sites located within the Mc4r exon was analyzed by bisulfite genomic sequencing of genomic DNA of brain tissues, and gene expression analysis was performed by real-time PCR. In both lines, the methylation of CpGs 1-8 (near the transcription start) was lower than methylation of CpGs 9-16 (located towards the end of the selected amplicon). On the standard diet, the methylation status did not differ between the lines. In response to high-fat diet, methylation of the CpGs near the transcription start was decreased in both lines. The Mc4r g... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3553189 Wed, 12 May 2010 09:44:03 +0100 3553189 http://www.medworm.com/index.php?rid=3553188&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20453307%26dopt%3DAbstract In this study, the coding region of the NPM1 gene was screened in 1035 individuals of 4 Chinese cattle breeds by DNA sequencing and polyacrylamide gel electrophoresis. A novel 12-bp deletion mutation was identified in the coding region of the NPM1 gene. The PCR products of primer NPM1-P2 exhibited 3 genotypes and 2 alleles: 178 bp (denoted as W) and 166 bp (denoted as D). Genotype DD and allele D were predominant in the studied populations. Association analysis with growth traits in the Nanyang breed (N = 265) showed that the animals with genotype DD had significantly greater birth weight, body weight, body length, and heart girth than those with genotype WD (P < 0.01 or P < 0.05) at birth and after 6 months and 12 months, but not at 18 and 24 months of age. Results of this study sug... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3553188 Wed, 12 May 2010 09:44:03 +0100 3553188 http://www.medworm.com/index.php?rid=3553187&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20453308%26dopt%3DAbstract In this study, we report a new Ser112Arg mutation in the PMP22 gene, identified in a patient with early-onset CMT and slowly progressive hearing impairment beginning in the second decade of life. We suggest that the Ser112Arg mutation in the PMP22 gene might have a causative role in the early-onset CMT with hearing impairment. Thus, our study extends the spectrum of CMT phenotypes putatively associated with PMP22 gene mutations. PMID: 20453308 [PubMed - in process] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3553187 Wed, 12 May 2010 09:44:03 +0100 3553187 http://www.medworm.com/index.php?rid=3553186&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20453309%26dopt%3DAbstract Authors: Maurer M, Hoffmann K, Sperling K, Varon R Nijmegen breakage syndrome (NBS), a rare autosomal recessive chromosomal instability disorder, is caused by mutations in the NBN gene. Most patients known so far are of Slavic origin and carry the major founder mutation c.657-661del5. Due to an unexpectedly high incidence of NBS patients (homozygous for the c.657-661del5 mutation) in a Northeast Bavarian region in Southeast Germany, we estimated the prevalence of this mutation in this area and compared it to another German region. We found a high carrier frequency of 1/176 for the c.657-661del5 mutation among newborns in Northeast Bavaria, while the frequency of the mutation in Berlin was 1/990. We further studied families from a Slavic population isolate, the Sorbs, in the Lusatian re... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3553186 Wed, 12 May 2010 09:44:03 +0100 3553186 http://www.medworm.com/index.php?rid=3553185&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20453310%26dopt%3DAbstract Authors: Bogdanowicz J, Pawlowska B, Ilnicka A, Gawlik-Zawislak S, Jozwiak A, Sobiczewska B, Zdzienicka E, Korniszewski L, Zaremba J Fluorescent in situ hybridization (FISH) was performed in 76 patients referred to our department because of intellectual disability and dysmorphic features that can be related to subtelomeric microaberrations. In all the patients, conventional cytogenetic methods revealed normal karyotype. Four (5.3%) subtelomeric rearrangements were detected by FISH: 2 subtelomeric 1p36 deletions, an unbalanced translocation involving chromosomes 1 and 12 with 1p36 deletion, and a de novo balanced translocation involving chromosomes 19 and 22. Thus, 3 cases of 1p36 subtelomeric deletion were found (3.95%). To confirm subtelomeric rearrangements in 2... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3553185 Wed, 12 May 2010 09:44:03 +0100 3553185 http://www.medworm.com/index.php?rid=3553184&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20453311%26dopt%3DAbstract Authors: Simioni M, Freitas E, Vieira T, Lopes-Cendes I, Gil-da-Silva-Lopes V Midline facial defects with hypertelorism (MFDH) are mainly characterized by ocular hypertelorism and bifid nose. They are often associated with structural and functional anomalies of the central nervous system similar to those found in 22q11.2 deletion syndromes. In addition, there are some isolated reports of MFDH and 22q11.2 deletion. These findings suggest that MFDH may be part of the spectrum of 22q11.2 deletion syndromes. To test this hypothesis, 10 individuals with MFDH were analyzed by fluorescent in situ hybridization (FISH), but no 22q11.2 deletion was detected. In view of this result, the TBX1 gene located within the 22q11.2 candidate region was screened. A new sequence variant (1132GA) was identif... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3553184 Wed, 12 May 2010 09:44:03 +0100 3553184 http://www.medworm.com/index.php?rid=3553183&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20453312%26dopt%3DAbstract Authors: Soardi FC, Coeli F, Maciel-Guerra AT, Guerra-Junior G, Mello M The SRY gene (sex-determining region on the Y chromosome; MIM *480000) is responsible for initiating male gonadal development. However, only 15-20% of the cases of XY gonadal dysgenesis are due to mutations in its sequence. Recently, heterozygous mutations in the NR5A1 gene (nuclear receptor subfamily 5, group A, member 1; MIM +184757) have been described in association with ovarian failure and disorders of testis development with or without adrenal failure. Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure. PMID: 20453312 [PubMed - as supplied by publisher] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3553183 Wed, 12 May 2010 09:44:03 +0100 3553183 http://www.medworm.com/index.php?rid=3553182&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20453313%26dopt%3DAbstract Authors: Wei DS, Zhang YH, Xing LJ, Li MC The Agrobacterium rhizogenes-mediated transformation procedure was developed by using the hygromycin B phosphotransferase gene (hph) as a selective marker for the oil-producing fungus Umbelopsis isabellina. Different conditions were combined to increase the transformation efficiency. The highest efficiency was obtained by using A. rhizogenes strain R105 and a vector with zygomycete promoter. Southern blot analysis demonstrated that 71% of transformants contained random integrations of T-DNA sequences under optimal conditions. We randomly selected 115 positive transformants resistant to hygromycin to analyze the amount of total fatty acid and gamma-linolenic acid (GLA). Six transformants produced a higher amount of total fatty acids than the wil... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3553182 Wed, 12 May 2010 09:44:03 +0100 3553182 http://www.medworm.com/index.php?rid=3260036&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20145294%26dopt%3DAbstract Authors: Achrem M, Rogalska SM, Kalinka A Employing FISH analysis as well as BLAST and CUSTAL W (1.82) programs, we investigated types of DNA nucleotide sequences building an additional heterochromatic band in 2R chromosomes of 3 lines of Secale vavilovii Grossh. The probes used in FISH analysis were designed based on the reverse transcriptase sequence of Ty1-copia and Ty3-gypsy retrotransposons and the 5S rRNA gene sequence. No hybridization signals from the reverse transcriptase probes were observed in the chromosome region where the additional band occurs. On the other hand, signals were observed after hybridization with the 5S rDNA probe, clearly suggesting the presence of that type of sequences in the analyzed heterochromatin band. Using BLAST and CUSTAL W programs, we revealed hi... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3260036 Thu, 11 Feb 2010 12:22:05 +0100 3260036 http://www.medworm.com/index.php?rid=3260035&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20145295%26dopt%3DAbstract In this study, we reported the isolation and characterization of 8 novel LMW-GS genes from Ae.longissima Schweinf. & Muschl., a species of the section Sitopsis of the genus Aegilops, which is closely related to the B genome of common wheat. Based on the N-terminal domain sequences, the 8 genes were divided into 3 groups. A consensus alignment of the extremely conserved domains with known gene groups and the subsequent cluster analysis showed that 2 out of the 3 groups of LMW-GS genes were closely related to those from the B genome, and the remaining was related to those from A and D genomes of wheat and Ae. tauschii. Using 3 sets of gene-group-specific primers, PCRs in diploid, tetraploid and hexaploid wheats and Ae. tauschii failed to obtain the expected products, indicating that the ... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3260035 Thu, 11 Feb 2010 12:22:05 +0100 3260035 http://www.medworm.com/index.php?rid=3260034&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20145296%26dopt%3DAbstract In this study, Chinese Spring-Sumai 3 chromosome 3B substitution line was used as resistant parent of the mapping population to reduce the confounded effect of genetic background in Sumai 3. The major QTL region was saturated with the Sequence Tagged Microsatellite (STM) and Sequence Tagged Site (STS) markers. A linkage map of chromosome 3B with 36 markers covering a genetic distance of 112.4 cM was constructed. Twelve new markers were inserted into the chromosome region where the major QTL was located. The average interval distance between markers was 1.5 cM. Multiple QTL Models (MQM) mapping indicated that the major QTL was located in the interval of Xgwm533 - Xsts9-1, and explained 45.6% of phenotypic variation of the resistance to FHB. The SSR (simple sequence repeat) marker... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3260034 Thu, 11 Feb 2010 12:22:05 +0100 3260034 http://www.medworm.com/index.php?rid=3260033&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20145297%26dopt%3DAbstract Authors: Huehn M The majority of published genetic maps are based on Kosambi distances or on Haldane distances. For a comparison of both map distance measures, their random variability is of particular interest. For the statistic ‘variance’, this paper presents a relationship between Kosambi distances and Haldane distances. The results suggest that Kosambi distances exhibit a smaller random variability. The theoretical results are applied to an experimental data set for molecular AFLP markers linked to the bolting gene of sugar beet (Beta vulgaris L.). PMID: 20145297 [PubMed - as supplied by publisher] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3260033 Thu, 11 Feb 2010 12:22:05 +0100 3260033 http://www.medworm.com/index.php?rid=3260032&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20145298%26dopt%3DAbstract Authors: Wolko L, Antkowiak W, Sips M, Slomski R Wild pear (Pyrus pyraster, syn. P. communis var. pyraster) is thought to be one of the species that gave rise to all other members of the genus Pyrus, although intraspecific hybridizations with cultivated varieties could cause the disappearance of original species characteristics. S-RNase alleles from 7 different wild pear individuals, collected from various regions of Poland, were cloned on the basis of the PCR method and nucleotide sequence analyses. The hypervariable (HV) region is responsible for allele-specific S-RNase activity in the self-incompatibility mechanism. The high level of polymorphism of its sequences may constitute a source of valuable phylogenetic information. From all individuals, 14 sequences were obtained successful... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3260032 Thu, 11 Feb 2010 12:22:05 +0100 3260032 http://www.medworm.com/index.php?rid=3260031&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20145299%26dopt%3DAbstract Authors: Krol M, Polanska J, Pawlowski KM, Turowski P, Skierski J, Majewska A, Ugorski M, Morty RE, Motyl T Metastasis is a final step in the progression of mammary gland cancer, usually leading to death. Potentially, a molecular signature of metastasis can be defined via comparison of primary tumors with their metastases. Currently, there is no data in the literature regarding the molecular portrait of metastases in dogs and only few reports regarding human cancer. This is the first report describing the transcriptomic signature of canine cancer metastatic cells. Two adenocarcinoma cell lines isolated from the canine mammary gland (CMT-W1 and CMT-W2) were compared with cell lines isolated from their lung metastases (CMT-W1M and CMT-W2M) with regards to the following cytometric paramet... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3260031 Thu, 11 Feb 2010 12:22:05 +0100 3260031 http://www.medworm.com/index.php?rid=3260030&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20145300%26dopt%3DAbstract Authors: Yang H, Xu ZY, Lei MG, Li FE, Deng CY, Xiong YZ, Zuo B The contractile protein troponin I (TnI), a constituent protein of the troponin complex located on the thin filaments of striated muscle, is involved in inhibition of calcium-induced myosin ATPase activity (and thus contraction). TnI-slow (slow-twitch skeletal muscle isoform, named TNNI1) and TnI-fast (fast-twitch skeletal muscle isoform, named TNNI2) are muscle-fiber-type-specific proteins, and expression of their genes may affect the composition of muscle fiber, thereby influencing the meat quality traits. Thus, the TnI genes are potential candidate genes for traits related to meat quality in animals. Association of 2 SNPs (EU743939:g.5174T>C in intron 4, and EU743939:g.8350C>A in intron 7) of the TNNI1 gen... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3260030 Thu, 11 Feb 2010 12:22:05 +0100 3260030 http://www.medworm.com/index.php?rid=3260029&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20145301%26dopt%3DAbstract In this study, a novel silent single-nucleotide polymorphism (SNP) was found in exon 7 of the chicken visfatin gene (also known as PBEF1) by single-stranded conformation polymorphism (SSCP) and DNA sequencing. In total, 836 chickens forming an F2 resource population of Gushi chicken crossed with Anka broiler were genotyped by XbaI forced RFLP, and the associations of this polymorphism with chicken growth, carcass characteristics, and meat quality were analyzed. Significant associations were found between the polymorphism and 4-week body weight (BW4), 6-week body weight (BW6), 4-week body slanting length (BSL4), fat bandwidth (FBW), breast muscle water loss rate (BWLR) and breast muscle fiber density (BFD) (P < 0.05), as well as 4-week breastbone length (BBL4) (P < 0.01). Thes... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3260029 Thu, 11 Feb 2010 12:22:05 +0100 3260029 http://www.medworm.com/index.php?rid=3260028&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20145302%26dopt%3DAbstract In this study, random amplified polymorphic DNA (RAPD) markers were applied to assess genetic diversity and population structure of wild and hatchery populations of the white seabream Diplodus sargus and the common two-banded seabream D. vulgaris (Sparidae). The estimated values for intrapopulation genetic variation, measured using the percentage of polymorphic loci (%P), Shannon index (H’), and Nei’s gene diversity (h), showed high values for all populations. The percentage of genetic variation within D. sargus and D. vulgaris populations, based on coefficient of gene differentiation, reached 82.5% and 90% of the total genetic variation, respectively. An undeniable decrease in genetic variation was found in both hatchery populations, pa... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3260028 Thu, 11 Feb 2010 12:22:05 +0100 3260028 http://www.medworm.com/index.php?rid=3260027&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20145303%26dopt%3DAbstract Authors: Hulak M, Kaspar V, Kozak P, Buric M, Filipova L, Petrusek A The North American spiny-cheek crayfish, Orconectes limosus (Cambaridae), endangered in its native range, is a widespread invasive species in European waters and conservationally important carrier of crayfish plague. However, its population structure is poorly known, and no informative genetic markers for the species are available. We tested cross-species transfer of microsatellite loci to spiny-cheek crayfish from 5 other crayfish species. Variability of 10 successfully amplifying loci derived from 4 species was then tested in 60 individuals of O. limosus originating from 3 natural populations: the river Danube at Bogyiszló in Hungary, a pond in Starý Klíčov, and the brook ... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3260027 Thu, 11 Feb 2010 12:22:05 +0100 3260027 http://www.medworm.com/index.php?rid=3260026&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20145304%26dopt%3DAbstract Authors: Brozovic G, Orsolic N, Rozgaj R, Kasuba V, Knezevic F, Knezevic AH, Benkovic V, Lisicic D, Borojevic N, Dikic D The relationship between DNA damage and repair of peripheral blood leukocytes, liver, kidney and brain cells was investigated in Swiss albino mice (Mus musculus L.) after exposure to sevoflurane (2.4 vol% for 2 h daily, for 3 days). Genetic damage of mouse cells was investigated by the comet assay and micronucleus test. To perform the comet assay, mice were divided into a control group and 4 groups of exposed mice sacrificed on day 3 of the experiment, at 0, 2, 6 or 24 h after the last exposure to sevoflurane. Mean tail length (TL), tail moment (TM), and tail intensity (TI) values were significantly higher in exposed mice (all examined organs) than in the ... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3260026 Thu, 11 Feb 2010 12:22:05 +0100 3260026 http://www.medworm.com/index.php?rid=3260025&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20145305%26dopt%3DAbstract This study aimed to define quantitatively the association between salt-sensitivity and α-adducin Gly460Trp polymorphism in all published case-control studies. Publications from PubMed and other databases were retrieved. The major inclusion criteria were: (1) case-control design; (2) salt-sensitivity confirmed by sodium loading tests, and (3) the distribution of genotypes given in detail. Seven case-control studies fulfilled the inclusion criteria. In total they involved 820 subjects (454 salt-sensitive and 366 non-salt-sensitive). The meta-analysis shows that Gly460Trp polymorphism in general is not significantly associated with salt-sensitivity [OR (95%CI): 1.40 (0.96, 2.04), P = 0.08]. Subgroup analysis showed that the association is statistically significant in Asian... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3260025 Thu, 11 Feb 2010 12:22:05 +0100 3260025 http://www.medworm.com/index.php?rid=3260024&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20145306%26dopt%3DAbstract In this study, a molecular analysis of LDLR and APOB was performed in a group of 378 unrelated ADH patients, to explore the mutation spectrum that causes hypercholesterolemia in Poland. All patients were clinically diagnosed with ADH according to a uniform protocol and internationally accepted WHO criteria. Mutational analysis included all exons, exon-intron boundaries and the promoter sequence of the LDLR, and a fragment of exon 26 of APOB. Additionally, the MLPA technique was applied to detect rearrangements within LDLR. In total, 100 sequence variations were identified in 234 (62%) patients. Within LDLR, 40 novel and 59 previously described sequence variations were detected. Of the 99 LDLR sequence variations, 71 may be pathogenic mutations. The most frequent LDLR alteration ... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3260024 Thu, 11 Feb 2010 12:22:05 +0100 3260024 http://www.medworm.com/index.php?rid=3260023&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20145307%26dopt%3DAbstract We report 3 subjects of rhizomelic chondrodysplasia punctata from India and the PEX7 mutations identified in them. The common PEX7-L292X allele, whose high frequency is due to a founder effect in the northern European Caucasian population, was not identified in these patients. Instead, 2 novel alleles are described, including 64_65delGC, which was present on a single PEX7 haplotype and could represent a common allele in the Indian population. PMID: 20145307 [PubMed - as supplied by publisher] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3260023 Thu, 11 Feb 2010 12:22:05 +0100 3260023 http://www.medworm.com/index.php?rid=3260022&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D20145308%26dopt%3DAbstract We present a clinical case of a female infant with multiple anomalies and distinctive facial features, with an exceptionally severe clinical course of Hirschsprung disease. The girl was also diagnosed with Mowat-Wilson syndrome, confirmed by molecular analysis as a heterozygous deletion of the ZEB2 gene. Moreover, molecular karyotyping revealed a deletion involving further genes (KYNU, ARHGAP15, and GTDC1). PMID: 20145308 [PubMed - as supplied by publisher] (Source: J Appl Genet) J Appl Genet journals http://www.medworm.com/rss/comments.php?id=3260022 Thu, 11 Feb 2010 12:22:05 +0100 3260022 http://www.medworm.com/index.php?rid=2959567&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19638684%26dopt%3DAbstract Authors: Szczepankiewicz A, Breborowicz A, Sobkowiak P, Kramer L, Popiel A The aims of this study were: (1) to find associations of asthma with single-nucleotide polymorphisms (SNPs) within the ADRB2 gene: Arg16Gly, Gln27Glu, -1023 G/A, -367 T/C, -47 C/T ; (2) to define linkage disequilibrium in the gene region, basing on the analyzed SNPs; and (3) to analyze the importance of ADRB2 polymorphism for response to bronchodilator drugs in children diagnosed with bronchial asthma. We compared 113 asthmatic children and 123 healthy subjects from the Polish population. Genotyping was performed by PCR-RFLP. We found an association of the A allele of -1023A/G ADRB2 polymorphism with asthma (P = 0.024). No significant associations with other SNPs were detected. Moderate linkage was found between... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=2959567 Thu, 05 Nov 2009 02:00:03 +0100 2959567 http://www.medworm.com/index.php?rid=2959566&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19638685%26dopt%3DAbstract Authors: Kabzinska D, Pierscinska J, Kochanski A Within the last decade, numerous methods have been applied to detect the most common mutation in patients affected with Charcot-Marie-Tooth (CMT) disease, i.e. submicroscopic duplication in the 17p11.2--p12 region. In 1993, another neuropathy - known as hereditary neuropathy with liability to pressure palsies (HNPP) - has been shown to be caused by a 17p11.2--p12 deletion. Historically, Southern blot analysis was the first approach to identify CMT1A duplication or HNPP deletion. This time- and labor-consuming method requires prior selection of DNA samples. In fact, only CMT patients affected with the demyelinating form of CMT1 have been screened for CMT1A duplication. After the 17p11.2--p12 duplication was identified in the CMT1 families... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=2959566 Thu, 05 Nov 2009 02:00:03 +0100 2959566 http://www.medworm.com/index.php?rid=2947646&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19875881%26dopt%3DAbstract Authors: Weiss J, Egea-Cortines M Tomato is sensitive to cold during vegetative growth, fruit set, development, and ripening. We have characterized the effect of cold stress (6×C for up to 48 h) on the transcriptome of Micro-Tom tomato fruits during ripening by subtractive PCR. The cold stress caused modifications in gene expression of housekeeping genes. From a total of 38 genes up-regulated by cold, only one clone - a dehydrin homologue - was related to previously identified cold-stress genes. Phylogenetic analysis showed its clustering with other cold-induced dehydrins, and increased distances from dehydrins activated by abscisic acid. Quantitative expression analysis of tomato dehydrin showed it was activated by cold treatment in leaves and fruits. As dehydrin is a member... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=2947646 Sun, 01 Nov 2009 09:18:02 +0100 2947646 http://www.medworm.com/index.php?rid=2947645&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19875882%26dopt%3DAbstract Authors: Cseh A, Cernak I, Taller J Common ragweed (Ambrosia artemisiifolia L.) is the most frequent weed in the Carpathian Basin and is spreading fast in other parts of Europe. In recent years, besides the wild type, a mutant genotype resistant to atrazine herbicides has evolved and is now widespread in many areas. The present study demonstrates that the atrazine resistance of ragweed is maternally inherited, and is caused by a point mutation in the psbA chloroplast gene. The promoter 5'-untranslated region and the open reading frame regions of the gene were analysed, and a homology search was performed. Both the atrazine-resistant and susceptible types of cpDNA were present in atrazine-resistant plants, while the mixed presence of both genotypes in the same plant, known as heteroplas... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=2947645 Sun, 01 Nov 2009 09:18:02 +0100 2947645 http://www.medworm.com/index.php?rid=2947644&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19875883%26dopt%3DAbstract Authors: Wachowiak W, Prus-Glowacki W Recent changes in environmental conditions in populations of peat-bog pine (Pinus uliginosa Neumann) caused rapid decline or even extinction of the species in several stands in Central Europe. Conservation strategies for P. uliginosa require information about the evolutionary history and genetic structure of its populations. Using isozymes we assessed the genetic structure of P. uliginosa from four isolated stands in Poland and compared the results to genetic structures of other closely related pine species including eight populations of Pinus mugo, ten of Pinus sylvestris and one of Pinus uncinata. The level of genetic variability of P. uliginosa measured by the mean number of alleles per locus and average heterozygosity was similar to others rela... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=2947644 Sun, 01 Nov 2009 09:18:02 +0100 2947644 http://www.medworm.com/index.php?rid=2947643&cid=s_33037_50_f&fid=33037&url=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fentrez%2Fquery.fcgi%3Ftmpl%3DNoSidebarfile%26db%3DPubMed%26cmd%3DRetrieve%26list_uids%3D19875884%26dopt%3DAbstract Authors: Glowacka K, Jezowski S Miscanthus sinensis is a promising species for biomass production. Influences of genetic and nongenetic factors on androgenesis induction efficiency were investigated. This is the first report on successful induction of pollen-derived callus in M. sinensis. The callus yield was strongly affected by genotype. A beneficial influence of cold pretreatment of spikes on androgenesis induction was observed. The highest yield of calli was obtained in cultures on a modified C17 medium. The results suggest that the high callus yield might be caused by the late culture initiation. The beginning of anther culture at the end of the flowering season caused a 17-fold increase in callus yield, in comparison to culture initiated at the height of the flowering season (Aug... J Appl Genet journals http://www.medworm.com/rss/comments.php?id=2947643 Sun, 01 Nov 2009 09:18:02 +0100 2947643