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311 records returned

Role of ADRB2 gene polymorphism in asthma and response to beta(2)-agonists in Polish children.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)...
Source: J Appl Genet - November 5, 2009 Category: Genetics & Stem Cells Authors: Szczepankiewicz A, Breborowicz A, Sobkowiak P, Kramer L, Popiel A Tags: J Appl Genet Source Type: journals

Screening of the 17p11.2--p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP).Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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...
Source: J Appl Genet - November 5, 2009 Category: Genetics & Stem Cells Authors: Kabzinska D, Pierscinska J, Kochanski A Tags: J Appl Genet Source Type: journals

Transcriptomic analysis of cold response in tomato fruits identifies dehydrin as a marker of cold stress.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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. Qua...
Source: J Appl Genet - November 1, 2009 Category: Genetics & Stem Cells Authors: Weiss J, Egea-Cortines M Tags: J Appl Genet Source Type: journals

Molecular characterization of atrazine resistance in common ragweed (Ambrosia artemisiifolia L.).Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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...
Source: J Appl Genet - November 1, 2009 Category: Genetics & Stem Cells Authors: Cseh A, Cernak I, Taller J Tags: J Appl Genet Source Type: journals

Different patterns of genetic structure of relict and isolated populations of endangered peat-bog pine (Pinus uliginosa Neumann).Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 geneti...
Source: J Appl Genet - November 1, 2009 Category: Genetics & Stem Cells Authors: Wachowiak W, Prus-Glowacki W Tags: J Appl Genet Source Type: journals

Genetic and nongenetic factors influencing callus induction in Miscanthus sinensis (Anderss.) anther cultures.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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...
Source: J Appl Genet - November 1, 2009 Category: Genetics & Stem Cells Authors: Glowacka K, Jezowski S Tags: J Appl Genet Source Type: journals

Genetic mechanisms underlying male sex determination in mammals.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Genetic control of gonadal development proceeds through either the male or female molecular pathways, driving bipotential gonadal anlage differentiation into a testis or ovary. Antagonistic interactions between the 2 pathways determine the gonadal sex. Essentially sex determination is the enhancement of one of the 2 pathways according to genetic sex. Initially, Sry with other factors upregulates Sox9 expression in XY individuals. Afterwards the expression of Sox9 is maintained by a positive feedback loop with Fgf9 and prostaglandin D2 as well as by autoregulative ability of Sox9. If these factors reach high concentrati...
Source: J Appl Genet - November 1, 2009 Category: Genetics & Stem Cells Authors: Piprek RP Tags: J Appl Genet Source Type: journals

Correlation between porcine PPARGC1A mRNA expression and its downstream target genes in backfat and longissimus dorsi muscle.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study provides evidence for a clear difference in mRNA expression of crucial genes in fat and energy metabolism between 2 important tissues. Our data suggest a clear impact of PPARGC1A on energy and lipid metabolism in vivo in the pig, through several of these downstream target genes. PMID: 19875886 [PubMed - as supplied by publisher] (Source: J Appl Genet)
Source: J Appl Genet - November 1, 2009 Category: Genetics & Stem Cells Authors: Erkens T, Vandesompele J, Zeveren A, Peelman LJ Tags: J Appl Genet Source Type: journals

Prion protein gene polymorphism in healthy and BSE-affected Slovak cattle.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We examined the PrP gene for the 23-bp indel polymorphism in the putative promoter region, 12-bp indel polymorphism in the first intron of the PrP gene, variations in number of octapeptide repeat units, and presence of the silent AAC>AAT transition in codon 192 within the protein-coding region of the PrP gene. Altogether we found 23 different genotypes in the group of healthy cattle and only 6 genotypes in the group of BSE-affected cattle. Comparison of homozygotes for the 23-bp insertion and heterozygotes showed significant differences (P < 0.05) in genotype distribution between the examined groups. Thereby ...
Source: J Appl Genet - November 1, 2009 Category: Genetics & Stem Cells Authors: Hresko S, Mojzis M, Tkacikova L Tags: J Appl Genet Source Type: journals

Horse breed discrimination using machine learning methods.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Genetic relationships and population structure of 8 horse breeds in the Czech and Slovak Republics were investigated using classification methods for breed discrimination. To demonstrate genetic differences among these breeds, we used genetic information - genotype data of microsatellite markers and classification algorithms - to perform a probabilistic prediction of an individual's breed. In total, 932 unrelated animals were genotyped for 17 microsatellite markers recommended by the ISAG for parentage testing (AHT4, AHT5, ASB2, HMS3, HMS6, HMS7, HTG4, HTG10, VHL20, HTG6, HMS2, HTG7, ASB17, ASB23, CA425, HMS1, LEX3). A...
Source: J Appl Genet - November 1, 2009 Category: Genetics & Stem Cells Authors: Burocziova M, Riha J Tags: J Appl Genet Source Type: journals

Loss of heterozygosity at BRCA1/2 loci in hereditary and sporadic ovarian cancers.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Loss of heterozygosity at BRCA1/2 loci in breast and ovarian tumors is a suggested risk factor for germline BRCA1/2 mutation status. We evaluated the presence of losses of selected microsatellite markers localized on chromosomes 17 and 13q in hereditary and sporadic ovarian tumors. 151 consecutive primary ovarian tumors (including 21 with BRCA1/2 mutations and 130 without the mutations) were screened for loss of heterozygosity at loci on chromosomes 17 and 13q. Losses of heterozygosity of at least one microsatellite marker localized on chromosomes 17 and 13q were revealed in 123 (81.5%) and 104 (68.9%) tumors, respecti...
Source: J Appl Genet - November 1, 2009 Category: Genetics & Stem Cells Authors: Brozek I, Ochman K, Debniak J, Morzuch L, Ratajska M, Stepnowska M, Stukan M, Emerich J, Limon J Tags: J Appl Genet Source Type: journals

Expression of Npc1 in Glial Cells Corrects Sterility in Npc1-/- mice.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Expression of Npc1 in Glial Cells Corrects Sterility in Npc1-/- mice. J Appl Genet. 2009;50(4):385-390 Authors: Donohue C, Marion S, Erickson RP Niemann-Pick type C1 (NPC) disease is an autosomal recessive neurodegenerative disorder. One feature of the mouse model of NPC1 is it's infertility. We have made transgenic mice which express the Npc1 protein exclusively in fibrillary astrocytes, using the glial fibrillary acidic protein (GFAP) promoter. This selective expression of Npc1 corrects sterility in GFAP-Npc1E, Npc1<sup&g...
Source: J Appl Genet - November 1, 2009 Category: Genetics & Stem Cells Authors: Donohue C, Marion S, Erickson RP Tags: J Appl Genet Source Type: journals

Frequencies of killer immunoglobulin-like receptor genotypes influence susceptibility to spontaneous abortion.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Natural killer (NK) cells are the most abundant lymphocyte population in the decidua. These cells express killer immunoglobulin-like receptors (KIRs), which upon recognition of HLA class I molecules on trophoblasts may either stimulate NK cells (activating KIRs) or inhibit them (inhibitory KIRs) to produce soluble factors necessary for the maintenance of pregnancy. KIR genes exhibit extensive haplotype polymorphism; individuals differ in both the number and kind (activating vs. inhibitory) of KIR genes. This polymorphism affects NK cell reactivity and susceptibility to diseases, including gynecological disorders. There...
Source: J Appl Genet - November 1, 2009 Category: Genetics & Stem Cells Authors: Nowak I, Malinowski A, Tchorzewski H, Barcz E, Wilczynski JR, Grybos M, Kurpisz M, Luszczek W, Banasik M, Reszczynska-Slezak D, Majorczyk E, Wisniewski A, Senitzer D, Sun J, Kusnierczyk P Tags: J Appl Genet Source Type: journals

A vitamin K epoxide reductase-oxidase complex gene polymorphism (-1639G>A) and interindividual variability in the dose-effect of vitamin K antagonists.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
A vitamin K epoxide reductase-oxidase complex gene polymorphism (-1639G>A) and interindividual variability in the dose-effect of vitamin K antagonists. J Appl Genet. 2009;50(4):399-403 Authors: Stepien E, Branicka A, Ciesla-Dul M, Undas A A daily dose of vitamin K antagonists (VKAs) may vary and its range depends on various interrelated factors. Low responsiveness to VKA (defined as a failure to achieve a target international normalized ratio [INR]) is associated with polymorphisms of the vitamin K epoxide reductase-oxidase complex gene (VKORC1). A highly prevalent promoter single-nucleotide polymorphism...
Source: J Appl Genet - November 1, 2009 Category: Genetics & Stem Cells Authors: Stepien E, Branicka A, Ciesla-Dul M, Undas A Tags: J Appl Genet Source Type: journals

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report on a 2-year-old Polish girl with typical manifestations of Loeys-Dietz syndrome (LDS), a rare genetic condition belonging to the group of Marfan-related disorders. The characteristic LDS symptoms observed in the girl included craniofacial dysmorphism (craniosynostosis, cleft palate, hypertelorism), arachnodactyly, camptodactyly, scoliosis, joint laxity, talipes equinovarus, translucent and hyperelastic skin, and umbilical hernia. Mild dilatation of the ascending aorta and tortuous course of the left internal carotid artery were recognized during her second year of life. Molecular genetic testing revealed a hetero...
Source: J Appl Genet - November 1, 2009 Category: Genetics & Stem Cells Authors: Jamsheer A, Henggeler C, Wierzba J, Loeys B, Paepe A, Stheneur C, Badziag N, Matuszewska K, Matyas G, Latos-Bielenska A Tags: J Appl Genet Source Type: journals

Analyses of air samples for ascospores of Leptosphaeria maculans and L.biglobosa by light microscopy and molecular techniques.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Spores of many fungal pathogens are dispersed by wind. Detection of these airborne inocula is important in forecasting both the onset and the risk of epiphytotics. Species-specific primers targeted at the internal transcribed spacer (ITS) region of Leptosphaeria maculans and L. biglobosa - the causal organisms of phoma stem canker and stem lesions of Brassica spp., including oilseed rape - were used to detect DNA extracted from particles deposited on tapes obtained from a spore trap operated in Rarwino (northwest Poland) from September to November in 2004 and 2006. The quantities of DNA assessed by traditional end-poin...
Source: J Appl Genet - November 1, 2009 Category: Genetics & Stem Cells Authors: Kaczmarek J, Jedryczka M, Fitt BD, Lucas JA, Latunde-Dada AO Tags: J Appl Genet Source Type: journals

CRISPR elements in the Thermococcales: evidence for associated horizontal gene transfer in Pyrococcus furiosus.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The presence and distribution of CRISPR (clustered regularly interspaced short palindrome repeat) elements in the archaeal order Thermococcales were analyzed. Four complete genome sequences from the species Pyrococcus abyssi, P. furiosus, P. horikoshii, and Thermococcus kodakaraensis were studied. A fragment of the genome of P. furiosus was flanked by CRISPR elements upstream and by a single element downstream. The composition of the gene sequences contained in this genome fragment (positions 699013 to 855319) showed significant differences from the other genes in the P. furiosus genome. Differences w...
Source: J Appl Genet - November 1, 2009 Category: Genetics & Stem Cells Authors: Portillo MC, Gonzalez JM Tags: J Appl Genet Source Type: journals

Darwin's contributions to genetics.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Darwin's contributions to evolutionary biology are well known, but his contributions to genetics are much less known. His main contribution was the collection of a tremendous amount of genetic data, and an attempt to provide a theoretical framework for its interpretation. Darwin clearly described almost all genetic phenomena of fundamental importance, such as prepotency (Mendelian inheritance), bud variation (mutation), heterosis, reversion (atavism), graft hybridization (Michurinian inheritance), sex-limited inheritance, the direct action of the male element on the female (xenia and telegony), the effect of use and di...
Source: J Appl Genet - August 1, 2009 Category: Genetics & Stem Cells Authors: Liu YS, Zhou XM, Zhi MX, Li XJ, Wang QL Tags: J Appl Genet Source Type: journals

The determinants of grain texture in cereals.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Kernel hardness is an important agronomic trait that influences end-product properties. In wheat cultivars, this trait is determined by the Puroindoline a (Pina) and Puroindoline b (Pinb) genes, located in the Hardness locus (Ha) on chromosome 5DS of the D genome. Wild type alleles code puroindoline a (PINA) and puroindoline b (PINB) proteins, which form a 15-kDa friabilin present on the surface of water-washed starch granules. Both the proteins are accumulated in the starch endosperm cells and aleurone of the mature kernels. Puroindoline-like genes coding puroindoline-like proteins in the starch endosperm occur in som...
Source: J Appl Genet - August 1, 2009 Category: Genetics & Stem Cells Authors: Nadolska-Orczyk A, Gasparis S, Orczyk W Tags: J Appl Genet Source Type: journals

Undescribed wheat gene for partial leaf rust and stripe rust resistance from Thatcher derivatives RL6058 and 90RN2491 carrying Lr34.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Inheritance of partial leaf rust and stripe rust resistance of a Thatcher wheat 90RN2491, earlier reported to carry two doses of the gene pair Lr34-Yr18 and the reference line RL6058 (6*Thatcher/PI58548) for the Lr34-Yr18 gene pair was studied against predominant and highly virulent Indian races. Thatcher derivatives 90RN2491 and RL6058 were intercrossed as well as crossed with the leaf rust and stripe rust susceptible Indian cultivar WL711. The F1, F2 and F3 generations from these crosses were assessed for rust severity against leaf rust race 77-5 and stripe rust race 46S119. The F2 and F3 generations from the crosses...
Source: J Appl Genet - August 1, 2009 Category: Genetics & Stem Cells Authors: Agarwal S, Saini RG Tags: J Appl Genet Source Type: journals

Response to stripe rust (Puccinia striiformis Westend. f. sp. tritici) and its coincidence with leaf rust resistance in hexaploid introgressive triticale lines with Triticum monococcum genes.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Triticale introgressive lines were developed by incorporating diploid wheat (Triticum monococcum [TM16]) genes into the hexaploid triticale genotype LT522/6. The synthetic allotetraploid T. monococcum cereale (AmAmRR) was used as a bridging form to introduce the genes. A group of 43 introgressive lines, parental stocks and a check cultivar were inoculated at the seedling stage (in the greenhouse) and at the adult plant stage (in the field) with four pathotypes of Puccinia striiformis f. sp. tritici to determine if the stripe rust resistance w...
Source: J Appl Genet - August 1, 2009 Category: Genetics & Stem Cells Authors: Sodkiewicz W, Strzembicka A, Sodkiewicz T, Majewska M Tags: J Appl Genet Source Type: journals

Differential expression of candidate genes for lignin biosynthesis under drought stress in maize leaves.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In order to provide information for the development of molecular selection markers for drought tolerance improvement, the methods of prometric analysis, quantitative real-time PCR and field evaluation were employed for the identification of the differential expression of candidate genes under drought stress in maize. At seventeen, twenty-four and forty-eight hours of polyethylene glycol-simulated drought stress at the seventh leaf stage, leaf samples were collected from two drought-tolerant inbred lines for prometric analysis by two-dimensional electrophoresis and peptide mass fingerprinting. Fifty-eight proteins out o...
Source: J Appl Genet - August 1, 2009 Category: Genetics & Stem Cells Authors: Hu Y, Li WC, Xu YQ, Li GJ, Liao Y, Fu FL Tags: J Appl Genet Source Type: journals

Influence of dent corn genetic backgrounds on QTL detection for plant-height traits and their relationships in high-oil maize.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
QTL mapping for plant-height traits has not been hitherto reported in high-oil maize. A high-oil maize inbred 'GY220' was crossed with two dent maize inbreds ('8984' and '8622') to generate two connected F2:3 populations. Four plant-height traits were evaluated in 284 and 265 F2:3 families. Single-trait QTL mapping and multiple-trait joint QTL mapping was used to detect QTLs for the traits and the genetic relationship between plant height (PH) and two other plant-height traits. A total of 28 QTLs and 12 pairs of digenic interactions among detected QTLs for four traits were detected in the two F2:3 families. Only one ma...
Source: J Appl Genet - August 1, 2009 Category: Genetics & Stem Cells Authors: Wei M, Fu J, Li X, Wang Y, Li Y Tags: J Appl Genet Source Type: journals

Additive effects of 19 porcine SNPs on growth rate, meat content and selection index.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
A total of 306 boars (108 Large White and 198 Landrace) were genotyped for 52 candidate SNPs to determine which of the polymorphisms influence growth rate, meat content and selection index. The effects of SNPs were estimated by a mixed linear model including a random additive polygenic animal effect, fixed effects of SNPs including additive, and pairwise additive-by-additive epistases, year*season of birth, breed and RYR1 genotype. In order to estimate all possible pairwise SNP combinations without overparameterising the model a stochastic approach was adopted. A total of 1 350 replications of the model were generated,...
Source: J Appl Genet - August 1, 2009 Category: Genetics & Stem Cells Authors: Kaminski S, Help H, Suchocki T, Szyda J Tags: J Appl Genet Source Type: journals

Cloning of profilin (FcPFN) from the shrimp Fenneropenaeus chinensis, a highly expressed protein in white spot syndrome virus (WSSV)-infected shrimp.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We isolated and characterized the profilin (FcPFN) cDNA from hemocytes of Fenneropenaeus chinensis, a unique shrimp species from the Yellow Sea. The FcPFN cDNA consists of 830 bp and encodes a polypeptide of 125 amino acids, having a predicted isoelectric point of 5.06. The deduced amino acid sequence of FcPFN shows 36&percnt; and 90&percnt; amino acid sequence identity to the profilin genes of Pacific white shrimp Litopenaeus vannamei and black tiger shrimp Penaeus monodon, respectively. The FcPFN mRNA was highly expressed in hemocytes and hepatopancreas and moderately in muscle of normal shrimp. The higher ex...
Source: J Appl Genet - August 1, 2009 Category: Genetics & Stem Cells Authors: Kong HJ, Hong GE, Cho HK, Nam BH, Kim YO, Kim WJ, Lee SJ, Kim KK Tags: J Appl Genet Source Type: journals

The MMP2 gene may be associated with longissimus dorsi muscle area in the pig (Sus scrofa).Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The matrix metalloproteinase-2 gene (MMP2) was found to be associated with hip structure in pigs. Recently three quantitative trait loci (QTLs) for loin muscle area were found on chromosome 6, to which MMP2 was mapped. In the present study, association analyses were conducted in two pig populations for a single-nucleotide polymorphism (SNP) c.-1959C>G present at a putative promoter region of the MMP2 gene. The association results showed that the animals with the C allele have a significantly larger loin muscle area than that of the animals with the G allele (P < 0.05). To confirm the present results, further func...
Source: J Appl Genet - August 1, 2009 Category: Genetics & Stem Cells Authors: Onteru SK, Fan B, Rothschild MF Tags: J Appl Genet Source Type: journals

A novel sheep gene, MMP7, differentially expressed in muscles from black-boned sheep and local common sheep.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Differences in gene expression in muscles from Chinese black-boned sheep and local common sheep were investigated using mRNA differential display. One differentially expressed novel gene was identified through semi-quantitative RT-PCR, and the full-length cDNA sequence was then obtained using the rapid amplification of cDNA ends (RACE). The nucleotide sequence of this gene is not homologous to any of the known sheep genes, but it contains an open reading frame encoding a protein of 416 amino acids, which has high homology with matrix metallopeptidase 7 (matrilysin, uterine) (MMP7) of 10 species: bovine (93&percnt;)...
Source: J Appl Genet - August 1, 2009 Category: Genetics & Stem Cells Authors: Yonggang L, Shizheng G Tags: J Appl Genet Source Type: journals

Known mutation (A3072G) in intron 3 of the IGF2 gene is associated with growth and carcass composition in Polish pig breeds.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
IGF2 is one of the genes that control muscle development. Moreover, IGF2 is imprinted, as only the paternal allele is expressed in the offspring. Using real-time PCR for IGF2 genotyping (Carrodegous et al. 2005), we evaluated the frequency of the IGF2 A3072G mutation (Van Laere et al. 2003) in pigs: Polish Landrace (PL, N = 271) and Large White (LW, N = 267). Our results are consistent with previous reports, showing that the A allele is common in breeds subjected to strong selection for lean meat content (A allele frequency was 0.79 in LW and 0.69 in PL). Moreover, we compared body composition, growth performance and m...
Source: J Appl Genet - August 1, 2009 Category: Genetics & Stem Cells Authors: Oczkowicz M, Tyra M, Walinowicz K, Rozycki M, Rejduch B Tags: J Appl Genet Source Type: journals

Cytogenetic perspective of ageing and longevity in men and women.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Analysis of relationships between the ageing cell phenotype and the age of cell donors is one of the ways towards understanding the link between cellular and organismal ageing. Cytogenetically, ageing is associated with a number of gross cellular changes, including altered size and morphology, genomic instability, and changes in expression and proliferation. Genomic instability can be easily assessed by analyzing the level of cytogenetic aberrations. In this review, we focus on the differences in the level and profile of cytogenetic aberrations observed in donors of different age and gender. Centenarians are a small fr...
Source: J Appl Genet - August 1, 2009 Category: Genetics & Stem Cells Authors: Zietkiewicz E, Wojda A, Witt M Tags: J Appl Genet Source Type: journals

Role of ADRB2 gene polymorphism in asthma and response to ß2-agonists in Polish children.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Role of ADRB2 gene polymorphism in asthma and response to ß2-agonists in Polish children. J Appl Genet. 2009;50(3):275-281 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 c...
Source: J Appl Genet - August 1, 2009 Category: Genetics & Stem Cells Authors: Szczepankiewicz A, Breborowicz A, Sobkowiak P, Kramer L, Popiel A Tags: J Appl Genet Source Type: journals

Screening of the 17p11.2-p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP).Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 o...
Source: J Appl Genet - August 1, 2009 Category: Genetics & Stem Cells Authors: Kabzinska D, Pierscinska J, Kochanski A Tags: J Appl Genet Source Type: journals

Monosomy 10q26-qter and trisomy 11q13-qter as a result of de novo unbalanced translocation.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
A male infant with partial monosomy 10 q and partial trisomy 11q as a result of de novo unbalanced translocation between the long arms of chromosomes 10 and 11: der(10)t(10;11)(q26;q13) is described. He had craniofacial dysmorphy, congenital heart defects, urogenital and cerebral anomalies, and severe developmental delay. To the best of our knowledge, this is the first report of this combination of chromosomal abnormalities. PMID: 19638686 [PubMed - in process] (Source: J Appl Genet)
Source: J Appl Genet - August 1, 2009 Category: Genetics & Stem Cells Authors: Tinsa F, Chebbi Y, Meddeb M, Bousnina D, Boussetta K, Bousnina S Tags: J Appl Genet Source Type: journals

Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Mosaic trisomy 20 is one of the most commonly reported chromosome abnormalities detected prenatally, but is rare postnatally. Many studies have hypothesized that uniparental disomy (UPD) may play a role in phenotype variability, but this has not been widely studied. Here we report an additional case of mosaic trisomy 20 with altered pigmentation, in which UPD was not found, and we review the literature. PMID: 19638687 [PubMed - in process] (Source: J Appl Genet)
Source: J Appl Genet - August 1, 2009 Category: Genetics & Stem Cells Authors: Powis Z, Erickson RP Tags: J Appl Genet Source Type: journals

A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Oculodentodigital dysplasia (ODDD) (OMIM #164200) is a rare congenital, autosomal dominant disorder comprising craniofacial, ocular, dental, and digital anomalies. The syndrome is caused by GJA1 mutations. The clinical phenotype of ODDD involves a characteristic dysmorphic facies, ocular findings (microphthalmia, microcornea, glaucoma), syndactyly type III of the hands, phalangeal abnormalities, diffuse skeletal dysplasia, enamel dysplasia, and hypotrichosis. In a Polish child with the clinical symptoms typical of ODDD, we demonstrated a novel missense mutation c.C31A resulting in p.L11F substitution. Our report provid...
Source: J Appl Genet - August 1, 2009 Category: Genetics & Stem Cells Authors: Jamsheer A, Wisniewska M, Szpak A, Bugaj G, Krawczynski MR, Budny B, Wawrocka A, Latos-Bielenska A Tags: J Appl Genet Source Type: journals

Genome-wide identification of genes involved in tolerance to various environmental stresses in Saccharomyces cerevisiae.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
During fermentation, yeast cells are exposed to a number of stresses - such as high alcohol concentration, high osmotic pressure, and temperature fluctuation - so some overlap of mechanisms involved in the response to these stresses has been suggested. To identify the genes required for tolerance to alcohol (ethanol, methanol, and 1-propanol), heat, osmotic stress, and oxidative stress, we performed genome-wide screening by using 4828 yeast deletion mutants. Our screens identified 95, 54, 125, 178, 42, and 30 deletion mutants sensitive to ethanol, methanol, 1-propanol, heat, NaCl, and H2O2, respectively. These deleted ...
Source: J Appl Genet - August 1, 2009 Category: Genetics & Stem Cells Authors: Auesukaree C, Damnernsawad A, Kruatrachue M, Pokethitiyook P, Boonchird C, Kaneko Y, Harashima S Tags: J Appl Genet Source Type: journals

Karyotyping of the narrow-leafed lupin (Lupinus angustifolius L.) by using FISH, PRINS and computer measurements of chromosomes.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
BAC (bacterial artificial chromosome) clones from the genomic BAC library of the narrow-leafed lupin (Lupinus angustifolius) were used for cytogenetic mapping of mitotic metaphase chromosomes of that species by the BAC-FISH technique. Location of the clones, together with cytogenetic markers localised earlier by FISH (fluorescence in situ hybridisation) and PRINS (primed in situ DNA labelling), was combined with computer-aided chromosome measurements, to construct the first idiogram of the narrow-leafed lupin. The chromosomes are meta- or submetacentric; the mean absolute chromosome lengths range from 1.9 &#181m to...
Source: J Appl Genet - June 28, 2009 Category: Genetics & Stem Cells Authors: Kaczmarek A, Naganowska B, Wolko B Tags: J Appl Genet Source Type: journals

Abnormal meiosis in tetraploid genotypes of Brachiaria brizantha (Poaceae) induced by colchicine: its implications for breeding.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Meiotic behavior was analyzed in 6 progenies from 3 artificially induced tetraploid (2n = 4x = 36) sexual genotypes (C31, C41, and C48) of the normally apomictic Brachiaria brizantha (Hochst. ex A. Rich.) Stapf., syn. Urochloa brizantha (Hochst. ex A. Rich.) R. Webster. These are key plants to allow intraspecific hybridization of this important forage species, widely used for pastures in the tropics. The percentage of abnormal cells among the plants ranged from 39.8&percnt; to 63.2&percnt;. In the single plant derived from C48, only the common meiotic abnormalities typical of polyploids were observed, while in ...
Source: J Appl Genet - June 28, 2009 Category: Genetics & Stem Cells Authors: Mendes-Bonato AB, Felismino M, Kaneshima AM, Pessim C, Calisto V, Pagliarini M, Valle C Tags: J Appl Genet Source Type: journals

Molecular characterization of the genomic region harboring the BYDV-resistance gene Bdv2 in wheat.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study created a starting point for eventual cloning of the Bdv2 gene and understanding the defense mechanism. PMID: 19433905 [PubMed - in process] (Source: J Appl Genet)
Source: J Appl Genet - June 28, 2009 Category: Genetics & Stem Cells Authors: Gao L, Ma Q, Liu Y, Xin Z, Zhang Z Tags: J Appl Genet Source Type: journals

First report on the presence of fire blight resistance in linkage group 11 of Pyrus ussuriensis Maxim.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Fire blight, caused by the gram-negative bacterium Erwinia amylovora (Burrill) Winslow et al., is a dangerous disease of pome fruits, including pear. A pear breeding program for fire blight resistance was initiated in 2003 at the Department of Pomology, Warsaw University of Life Sciences, Poland. Since several Asian species are considered to be potential sources of resistance to fire blight, the susceptible Pyrus communis 'Doyenne du Comice' was crossed with the resistant P. ussuriensis. The F1 full-sib progeny composed of 155 seedlings was tested for susceptibility to fire blight by artificial shoot inoculation. A fra...
Source: J Appl Genet - June 28, 2009 Category: Genetics & Stem Cells Authors: Bokszczanin K, Dondini L, Przybyla AA Tags: J Appl Genet Source Type: journals

High-quality plant DNA extraction for PCR: an easy approach.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Polymerase chain reaction has found wide applications in modern research involving transformations and other genomic studies. For reproducible PCR results, however, the quantity and quality of template DNA is of considerable importance. A simple and efficient plant DNA extraction procedure for isolation of high-quality DNA from plant tissues is presented here. It requires maceration of plant tissue of about 1.0 cm2 (e.g. of a leaf blade) in DNA extraction buffer (100 mM Tris-HCl, 100 mM EDTA, 250 mM NaCl) using 1.5-mL microfuge tubes, followed by cell lysis with 20&percnt; SDS...
Source: J Appl Genet - June 28, 2009 Category: Genetics & Stem Cells Authors: Ahmed I, Islam M, Arshad W, Mannan A, Ahmad W, Mirza B Tags: J Appl Genet Source Type: journals

Comparison of skeletal muscle transcriptional profiles in dairy and beef breeds bulls.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
A cDNA microarray (18 263 probes) was used for transcriptome analysis of bovine skeletal muscle (m. semitendinosus) in 12-month-old bulls of the beef breed Limousin (LIM) and the typical dairy breed Holstein-Friesian (HF, used as a reference). We aimed to identify the genes whose expression may reflect the muscle phenotype of beef bulls. A comparison of muscle transcriptional profiles revealed significant differences in expression of 393 genes between HF and LIM. We classified biological functions of 117 genes with over 2-fold differences in expression between the examined breeds. Among them, 72 genes were up-regulated...
Source: J Appl Genet - June 28, 2009 Category: Genetics & Stem Cells Authors: Sadkowski T, Jank M, Zwierzchowski L, Oprzadek J, Motyl T Tags: J Appl Genet Source Type: journals

Effect of ABCG2, PPARGC1A, OLR1 and SCD1 gene polymorphism on estimated breeding values for functional and production traits in Polish Holstein-Friesian bulls.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study investigated the impact of 6 polymorphisms located in the ABCG2, PPARGC1A, OLR1 and SCD1 genes on estimated breeding values for milk production, longevity, somatic cell count and reproductive traits. The analysis was conducted on 453 Polish Holstein-Friesian bulls. Genotypes were identified using PCR-RFLP, and haplotype inferences were performed for 3 linked mutations of PPARGC1A. The most significant associations were found between the A/C polymorphism located in exon 14 of ABCG2 and milk fat production traits as well as calving-to-first insemination interval, and between the T/C substitution in intron 9 of the...
Source: J Appl Genet - June 28, 2009 Category: Genetics & Stem Cells Authors: Komisarek J, Dorynek Z Tags: J Appl Genet Source Type: journals

Combining microsatellite and pedigree data to estimate relationships among Skyros ponies.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In conclusion, this new estimator can be a promising alternative to traditionally used estimators, especially in inbred populations, with both incomplete pedigree and molecular information. PMID: 19433910 [PubMed - as supplied by publisher] (Source: J Appl Genet)
Source: J Appl Genet - June 28, 2009 Category: Genetics & Stem Cells Authors: Bomcke E, Gengler N Tags: J Appl Genet Source Type: journals

Detecting a deletion in the coding region of the bovine bone morphogenetic protein 15 gene (BMP15).Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The aim of this study was to detect polymorphism in the bovine bone morphogenetic protein 15 (BMP15) gene. On the basis of PCR-SSCP and DNA sequencing, a 4-bp deletion was identified in the coding region of the gene. Sequence analysis revealed that the deletion altered the reading frame and introduced a stop codon at position 264. Eight breeds (Luxi, Qinchuan, Nanyang, Jinnan, Bohai Black, Menggolian, Holstein, and Simmental) were genotyped by PCR-SSCP. No cows homozygous for this mutation were observed in these breeds. Heterozygous cows were detected in Luxi, Qinchuan, Nanyang, Jinnan and Bohai Black cattle. Fecundity...
Source: J Appl Genet - June 28, 2009 Category: Genetics & Stem Cells Authors: Zhang LP, Gan QF, Zhang XH, Li HD, Hou GY, Li JY, Gao X, Ren HY, Chen JB, Xu SZ Tags: J Appl Genet Source Type: journals

Identification of carriers of the mutation causing coagulation factor XI deficiency in Polish Holstein-Friesian cattle.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Factor XI (FXI) deficiency is a hereditary coagulation disorder observed in various mammalian species. The molecular basis of coagulopathy has been recognized in Holstein cattle as a 76-bp insertion in the coding region of the FXI gene. Because the disorder seems to have an impact on reproductive traits and udder health in cattle, we tested 103 randomly selected cows, 28 cows with repeat breeding, and 9 cows with recurrent mastitis for the presence of an abnormal FXI allele. Three related cows were diagnosed as carriers. PMID: 19433912 [PubMed - in process] (Source: J Appl Genet)
Source: J Appl Genet - June 28, 2009 Category: Genetics & Stem Cells Authors: Gurgul A, Rubis D, Slota E Tags: J Appl Genet Source Type: journals

CD14 C260T promoter polymorphism and the risk of cerebrovascular diseases: a meta-analysis.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In conclusion, the results of this meta-analysis suggest the CD14 C260T polymorphism is not a risk factor for CVD. However, more studies in ethnically varied populations are needed to evaluate in a reliable manner the role of this SNP in CVD susceptibility. PMID: 19433913 [PubMed - in process] (Source: J Appl Genet)
Source: J Appl Genet - June 28, 2009 Category: Genetics & Stem Cells Authors: Banerjee I Tags: J Appl Genet Source Type: journals

Sequence variants of chemokine receptor genes and susceptibility to HIV-1 infection.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Genetic susceptibility to HIV infection was previously proven to be influenced by some chemokine receptor polymorphisms clustering on chromosome 3p21. Here the influence of 5 genetic variants was studied: Δ32 CCR5, G(-2459)A CCR5, G190A CCR2, G744A CX3CR1 and C838T CX3CR1. They were screened in a cohort of 168 HIV-1 positive adults [HIV(+) group] and 151 newborns [control group] from northwestern Poland. PCR-RFLP was performed to screen for the variants (except for Δ32 CCR5 polymorphism, where PCR fragment size was sufficient to identify the alleles) and then electrophoresed on agarose gel to determ...
Source: J Appl Genet - June 28, 2009 Category: Genetics & Stem Cells Authors: Parczewski M, Leszczyszyn-Pynka M, Kaczmarczyk M, Adler G, Binczak-Kuleta A, Loniewska B, Boron-Kaczmarska A, Ciechanowicz A Tags: J Appl Genet Source Type: journals

The intestinal trefoil factor (Tff3), also expressed in the inner ear, interacts with peptides contributing to apoptosis.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The 3 members of the mammalian trefoil factor family (TFF) are expressed and secreted as cytoprotective peptides along the entire length of the normal gastrointestinal tract. More recently, they were shown to display multifunctional properties. Goblet cells of the small and large intestine constitute a major source for the synthesis of the third family member, TFF3 (formerly intestinal trefoil factor, ITF). TFF3, like the other family members, is rapidly up-regulated in response to physical wounding of the digestive tract. In addition, Tff3 was also detected in the posterior pituitary gland. Apart from this Tff3 functi...
Source: J Appl Genet - June 28, 2009 Category: Genetics & Stem Cells Authors: Lubka M, Shah AA, Blin N, Baus-Loncar M Tags: J Appl Genet Source Type: journals

Mutant HFE genotype leads to significant iron overload in patients with liver diseases from western Romania.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The present study aimed at assessing the frequency of HFE mutations (C282Y, H63D and S65C) in western Romanian patients with liver disease of diverse aetiologies suspected of iron overload. A total of 21 patients, all Romanian residents hospitalized with clinical suspicion of iron overload and liver disease, were assayed for C282Y, H63D and S65C mutations, serum ferritin and viral hepatitis markers. Overall, 9 out of the 21 patients (42.86%) were found to harbour mutations in the HFE gene: 4 homozygotes C282Y (19.0%), 1 compound heterozygote C282Y/H63D (4.8%), 1 single heterozygote C282Y (4.8%), 2 single heterozygotes ...
Source: J Appl Genet - June 28, 2009 Category: Genetics & Stem Cells Authors: Neghina AM, Anghel A, Sporea I, Popescu A, Neghina R, Collins A, Thorstensen K Tags: J Appl Genet Source Type: journals

Genetic background of host-pathogen interaction between Cucumis sativus L. and Pseudomonas syringae pv. lachrymans.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The interplay of plant resistance mechanisms and bacterial pathogenicity is very complex. This applies also to the interaction that takes place between the pathogen Pseudomonas syringae pv. lachrymans (Smith et Bryan) and the cucumber (Cucumis sativus L.) as its host plant. Research on P. syringae pv. lachrymans has led to the discovery of specific factors produced during pathogenesis, i.e. toxins or enzymes. Similarly, studies on cucumber have identified the specific types of plant resistance expressed, namely Systemic Acquired Resistance (SAR) or Induced Systemic Resistance (ISR). This paper presents a summary of the...
Source: J Appl Genet - February 8, 2009 Category: Genetics & Stem Cells Authors: Olczak-Woltman H, Schollenberger M, Niemirowicz-Szczytt K Tags: J Appl Genet Source Type: journals