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CG dinucleotide periodicities recognized by the Dnmt3a–Dnmt3L complex are distinctive at retroelements and imprinted domainsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract The Dnmt3a and Dnmt3L genes are critical mediators of cytosine methylation during gametogenesis, with major actions noted at transposable elements and imprinted loci. The Dnmt3a–Dnmt3L complex was recently described to have preferential activity at CG dinucleotides located 8-10 bp apart. Because cytosine methylation is heterogeneously distributed in the genome, we tested whether this relative sequence preference explains the effects of mutation of the Dnmt3a and Dnmt3L genes using bioinformatic analysis. We found that the human and mouse genomes are significantly enriched in a CG dinucleotide ...
Source: Mammalian Genome - November 17, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

MicroRNAs and epigenetic regulation in the mammalian inner ear: implications for deafnessEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Sensorineural hearing loss is the most common sensory disorder in humans and derives, in most cases, from inner-ear defects or degeneration of the cochlear sensory neuroepithelial hair cells. Genetic factors make a significant contribution to hearing impairment. While mutations in 51 genes have been associated with hereditary sensorineural nonsyndromic hearing loss (NSHL) in humans, the responsible mutations in many other chromosomal loci linked with NSHL have not been identified yet. Recently, mutations in a noncoding microRNA (miRNA) gene, MIR96, which is expressed specifically in the inner-ear ha...
Source: Mammalian Genome - October 30, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Overview of Mammalian Genome special issue on epigeneticsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Content Type Journal ArticleDOI 10.1007/s00335-009-9231-4Authors Jo Peters, MRC Harwell, Harwell Science and Innovation Campus Mammalian Genetics Unit Oxfordshire OX11 0RD UK Journal Mammalian GenomeOnline ISSN 1432-1777Print ISSN 0938-8990 (Source: Mammalian Genome)
Source: Mammalian Genome - October 28, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Imprinting evolution and human healthEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Genomic imprinting results in parent-of-origin-dependent, monoallelic expression of genes. The functional haploid state of these genes has far-reaching consequences. Not only has imprinting been implicated in accelerating mammalian speciation, there is growing evidence that it is also involved in the pathogenesis of several human conditions, particularly cancer and neurological disorders. Epigenetic regulatory mechanisms govern the parental allele-specific silencing of imprinted genes, and many theories have attempted to explain the driving force for the evolution of this unique form of gene control...
Source: Mammalian Genome - October 15, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Effect of IVF and laser zona dissection on DNA methylation pattern of mouse zygotesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In conclusion, epigenetic patterns and early embryonic development are not altered by laser-assisted IVF techniques and another explanation must be sought for the poor implantation rates observed in mice. Content Type Journal ArticleDOI 10.1007/s00335-009-9227-0Authors Dominika D. Peters, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH) Institute of Experimental Genetics Ingolstädter Landstr. 1 85764 Neuherberg GermanyKonstantin Lepikhov, University of Saarland Department of Natural Sciences – Technical Faculty III FR 8.3, Biological Sciences, Institute of Genetics/Epigenetics Saa...
Source: Mammalian Genome - October 13, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Genetic basis of sex-specific resistance to neuro-oncogenesis in (BDIX × BDIV) F2 ratsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract The identification of cancer susceptibility- and resistance-mediating genes is an essential prerequisite for prevention and early diagnosis of malignant tumors. Model organisms are helpful to identify variant alleles involved in pathways affecting individual cancer risk. BDIX and BDIV rats of both sexes are highly susceptible and resistant, respectively, to the development of N-ethyl-N-nitrosourea (ENU)-induced malignant peripheral nerve sheath tumors (MPNST), predominantly in the trigeminal nerves. Nevertheless, female (BDIV × BDIX) F2 intercross rats have a lower MPNST incidence and a l...
Source: Mammalian Genome - October 6, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Transmission of mutant phenotypes from ES cells to adult miceEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Genetic manipulation of embryonic stem (ES) cells has been used to produce genetically engineered mice modeling human disorders. Here we describe a novel, additional application: selection for a phenotype of interest and subsequent transmission of that phenotype to a living mouse. We show, for the first time, that a cellular phenotype induced by ENU mutagenesis in ES cells can be transmitted and recapitulated in adult mice derived from these cells. We selected for paraquat-resistant (PQR) ES clones. Subsequent injection of these cells into blastocysts resulted in the production of germline chimeras, ...
Source: Mammalian Genome - October 1, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Epigenetic mechanisms underlying extinction of memory and drug-seeking behaviorEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract An increasing body of evidence shows that structural modifications of chromatin, the DNA–protein complex that packages genomic DNA, do not only participate in maintaining cellular memory (e.g., cell fate), but they may also underlie the strengthening and maintenance of synaptic connections required for long-term changes in behavior. Accordingly, epigenetics has become a central topic in several neurobiology fields such as memory, drug addiction, and several psychiatric and mental disorders. This interest is justified as dynamic chromatin modifications may provide not only transient but also stable...
Source: Mammalian Genome - September 29, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

A species-generalized probabilistic model-based definition of CpG islandsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract The DNA of most vertebrates is depleted in CpG dinucleotides, the target for DNA methylation. The remaining CpGs tend to cluster in regions referred to as CpG islands (CGI). CGI have been useful as marking functionally relevant epigenetic loci for genome studies. For example, CGI are enriched in the promoters of vertebrate genes and thought to play an important role in regulation. Currently, CGI are defined algorithmically as an observed-to-expected ratio (O/E) of CpG greater than 0.6, G+C content greater than 0.5, and usually but not necessarily greater than a certain length. Here we find that the ...
Source: Mammalian Genome - September 24, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

RNase 1 genes from the family Sciuridae define a novel rodent ribonuclease clusterEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We examined the specific sites at which Sciuridae RNase 1s diverge from Muridae/Cricetidae RNase 1s and determined that the divergent sites are located on the external surface, with complete sparing of the catalytic crevice. The full significance of these findings awaits a more complete understanding of biological role of mammalian RNase 1s. Content Type Journal ArticleDOI 10.1007/s00335-009-9215-4Authors Steven J. Siegel, National Institute of Allergy and Infectious Diseases, National Institutes of Health Laboratory of Allergic Diseases Bethesda MD 20892 USACaroline M. Percopo, National Institute of Allergy and In...
Source: Mammalian Genome - September 22, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Interindividual variation in epigenomic phenomena in humansEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Our knowledge of regulatory mechanisms of gene expression and other chromosomal processes related to DNA methylation and chromatin state is continuing to grow at a rapid pace. Understanding how these epigenomic phenomena vary between individuals will have an impact on understanding their broader role in determining variation in gene expression and biochemical, physiological, and behavioural phenotypes. In this review we survey recent progress in this area, focusing on data available from humans. We highlight the role of obligatory (sequence-dependent) epigenomic variation as an important mechanism f...
Source: Mammalian Genome - September 18, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

A whole-genome scan for recurrent airway obstruction in Warmblood sport horses indicates two positional candidate regionsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Recurrent airway obstruction (RAO), or heaves, is a naturally occurring asthma-like disease that is related to sensitisation and exposure to mouldy hay and has a familial basis with a complex mode of inheritance. A genome-wide scanning approach using two half-sibling families was taken in order to locate the chromosome regions that contribute to the inherited component of this condition in these families. Initially, a panel of 250 microsatellite markers, which were chosen as a well-spaced, polymorphic selection covering the 31 equine autosomes, was used to genotype the two half-sibling families, whi...
Source: Mammalian Genome - September 17, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Imprinting and epigenetic changes in the early embryoEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Imprinted genes are epigenetically regulated so that only one allele is expressed in a parent-of-origin-dependent manner. Although they represent a small subset of the mammalian genome, imprinted genes are essential for normal development. The regulatory mechanisms underlying imprinting are complex and have been the subject of extensive investigation. DNA methylation is the best-established epigenetic mark that is critical for the allele-specific expression of imprinted genes. This mark must be correctly established in the germline, maintained throughout life, and erased and reestablished in the ger...
Source: Mammalian Genome - September 17, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Characterization of the dwg mutations: dwg and dwgBayer are new mutant alleles of the Ggt1 geneEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study we characterized dwg mutations by investigating their association with the Ggt1 gene. Histological analysis revealed reduced numbers of proliferative and hypertrophic chondrocytes in the growth plate of dwg/dwg mice, which are characteristic abnormalities observed in GGT1-deficient mice. To identify the causative mutations of dwg mutations, we analyzed the Ggt1 gene in dwg/dwg and dwg Bayer /dwg Bayer mice. In dwg/dwg mice, 13 nucleotides on exon 7 of the Ggt1 gene were deleted, resulting in the generation of aberrant transcripts due to disrupted pre-mRNA splicing. Furthermore, dwg Bayer /dwg ...
Source: Mammalian Genome - September 17, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Genetic loci that regulate healing and regeneration in LG/J and SM/J miceEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract MRL mice display unusual healing properties. When MRL ear pinnae are hole punched, the holes close completely without scarring, with regrowth of cartilage and reappearance of both hair follicles and sebaceous glands. Studies using (MRL/lpr × C57BL/6)F2 and backcross mice first showed that this phenomenon was genetically determined and that multiple loci contributed to this quantitative trait. The lpr mutation itself, however, was not one of them. In the present study we examined the genetic basis of healing in the Large (LG/J) mouse strain, a parent of the MRL mouse and a strain that shows...
Source: Mammalian Genome - September 17, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Chromatin mechanisms in genomic imprintingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Mammalian imprinted genes are clustered in chromosomal domains. Their mono-allelic, parent-of-origin-specific expression is regulated by imprinting control regions (ICRs), which are essential sequence elements marked by DNA methylation on one of the two parental alleles. These methylation “imprints” are established during gametogenesis and, after fertilization, are somatically maintained throughout development. Nonhistone proteins and histone modifications contribute to this epigenetic process. The way ICRs mediate imprinted gene expression differs between domains. At some domains, for instance,...
Source: Mammalian Genome - September 17, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Obesity and genetics regulate microRNAs in islets, liver, and adipose of diabetic miceEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Type 2 diabetes results from severe insulin resistance coupled with a failure of β cells to compensate by secreting sufficient insulin. Multiple genetic loci are involved in the development of diabetes, although the effect of each gene on diabetes susceptibility is thought to be small. MicroRNAs (miRNAs) are noncoding 19–22-nucleotide RNA molecules that potentially regulate the expression of thousands of genes. To understand the relationship between miRNA regulation and obesity-induced diabetes, we quantitatively profiled approximately 220 miRNAs in pancreatic islets, adipose tissue, and liver fr...
Source: Mammalian Genome - September 3, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Emerging similarities in epigenetic gene silencing by long noncoding RNAsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Long noncoding RNAs (lncRNAs) such as Xist, Air, and Kcnq1ot1 are required for epigenetic silencing of multiple genes in cis within large chromosomal domains, including distant genes located hundreds of kilobase pairs away. Recent evidence suggests that all three of these lncRNAs are functional and that they silence gene expression, in part, through an intimate interaction with chromatin. Here we provide an overview of lncRNA-dependent gene silencing, focusing on recent findings for the Air and Kcnq1ot1 lncRNAs. We review molecular evidence indicating that these lncRNAs interact with chromatin and cor...
Source: Mammalian Genome - September 3, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Biomarkers of human gastrointestinal tract regionsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study furnishes the first map of gene expression along the healthy human gastrointestinal tract. Furthermore, the approach implemented here, and validated by retrieving known gene profiles, allowed the identification of promising new leads in both healthy and disease states. Content Type Journal ArticleDOI 10.1007/s00335-009-9212-7Authors Elena Maria Comelli, Nestlé Research Center Department of Nutrition and Health Vers chez les Blanc 1000 Lausanne 26 SwitzerlandSofiane Lariani, Nestlé Research Center Department of BioAnalytical Science Vers chez les Blanc 1000 Lausanne 26 SwitzerlandMarie-Camille Zwahlen, N...
Source: Mammalian Genome - August 27, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Identification of genetic loci involved in diabetes using a rat model of depressionEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study we report results from the QTL analysis for multiple metabolic phenotypes, including fasting glucose, post-restraint stress glucose, postprandial glucose and insulin, and body weight. We identified multiple QTLs for each trait and many of the QTLs overlap with those previously identified using inbred models of type 2 diabetes (T2D). Significant correlations were found between metabolic traits and HPA axis measures, as well as forced swim test behavior. Several metabolic loci overlap with loci previously identified for HPA activity and forced swim behavior in this F2 intercross, suggesting that the genetic...
Source: Mammalian Genome - August 21, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Epigenetics: deciphering how environmental factors may modify autoimmune type 1 diabetesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Type 1 diabetes (T1D) is an autoimmune disease that has increased two- to threefold over the past half century by as yet unknown means. It is generally accepted that T1D is the result of gene–environment interactions, but such rapid increases in incidence are not explained by Mendelian inheritance. There have been numerous advances in our knowledge of the pathogenesis of T1D. Indeed, there has been a large number of genes identified that contribute to risk for this disease and several environmental factors have been proposed. The complexity of such interactions is yet to be understood for any majo...
Source: Mammalian Genome - August 21, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Epigenetics, miRNAs, and human cancer: a new chapter in human gene regulationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Cancer is a genetic and epigenetic disease. MicroRNAs (miRNAs), a class of small noncoding RNAs, have been shown to be deregulated in many diseases including cancer. An intertwined connection between epigenetics and miRNAs has been supported by the recent identification of a specific subgroup of miRNAs called “epi-miRNAs” that can directly and indirectly modulate the activity of the epigenetic machinery. The complexity of this connection is enhanced by the epigenetic regulation of miRNA expression that generates a fine regulatory feedback loop. This review focuses on how epigenetics affects the ...
Source: Mammalian Genome - August 21, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

A novel approach identified the FOLR1 gene, a putative regulator of milk protein synthesisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study has utilised comparative functional genomics to exploit animal models with extreme adaptation to lactation to identify candidate genes that specifically regulate protein synthesis in the cow mammary gland. Increasing milk protein production is valuable to the dairy industry. The lactation strategies of both the Cape fur seal (Artocephalus pusillus pusillus) and the tammar wallaby (Macropus eugenii) include periods of high rates of milk protein synthesis during an established lactation and therefore offer unique models to target genes that specifically regulate milk protein synthesis. Global changes in mammary...
Source: Mammalian Genome - August 9, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal developmentEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study, the spontaneous mouse mutant nee was used to identify a component of podosome-type adhesions that is essential for normal postnatal growth and development. Mice homozygous for the nee allele exhibited runted growth, craniofacial and skeletal abnormalities, ocular anterior segment dysgenesis, and hearing impairment. Adults also exhibited infertility and a form of lipodystrophy. Using genetic mapping and DNA sequencing, the cause of nee phenotypes was identified as a 1-bp deletion within the Sh3pxd2b gene on mouse Chromosome 11. Whereas the wild-type Sh3pxd2b gene is predicted to encode a protein with one P...
Source: Mammalian Genome - August 9, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

A framework for detecting and characterizing genetic background-dependent imprinting effectsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Genomic imprinting, where the effects of alleles depend on their parent-of-origin, can be an important component of the genetic architecture of complex traits. Although there has been a rapidly increasing number of studies of genetic architecture that have examined imprinting effects, none have examined whether imprinting effects depend on genetic background. Such effects are critical for the evolution of genomic imprinting because they allow the imprinting state of a locus to evolve as a function of genetic background. Here we develop a two-locus model of epistasis that includes epistatic interacti...
Source: Mammalian Genome - August 6, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Mouse, man, and meaning: bridging the semantics of mouse phenotype and human diseaseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Now that the laboratory mouse genome is sequenced and the annotation of its gene content is improving, the next major challenge is the annotation of the phenotypic associations of mouse genes. This requires the development of systematic phenotyping pipelines that use standardized phenotyping procedures which allow comparison across laboratories. It also requires the development of a sophisticated informatics infrastructure for the description and interchange of phenotype data. Here we focus on the current state of the art in the description of data produced by systematic phenotyping approaches using...
Source: Mammalian Genome - August 3, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

SNPs in the bovine IL-10 receptor are associated with somatic cell score in Canadian dairy bullsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The objective of the present study was to identify SNPs in genes that regulate anti-inflammatory responses and test their association with estimated breeding values (EBVs) for somatic cell score (SCS), a trait highly correlated with the incidence of mastitis. These genes included bovine interleukin-10 (IL-10) and its receptor (IL-10R), and transforming growth factor β1 (TGF-β1) and its receptor (TGF-βR). Sequencing-pooled DNA allowed for the identification of SNPs in IL-10 (n = 2), IL-10Rα (n = 6) and β (n = 2), and TGF-β1 (n = 1). These SNPs were subsequently genotyped in ...
Source: Mammalian Genome - July 30, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

A novel ENU-induced mutation, peewee, causes dwarfism in the mouseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract We identified a novel fertile autosomal recessive mutation called peewee that results in dwarfing, in a region-specific ENU-induced mutagenesis. These mice at litter size were smaller those of other strains. Histological analysis revealed that the major organs appear normal, but abnormalities in cellular proliferation were observed in bone, liver, and testis. Haplotype analysis localized the peewee gene to a 3.3-Mb region between D5Mit83 and D5Mit356.3. There are 18 genes in this linkage area. We also performed in silico mapping using the PosMedSM program, which searches for connections among keywords...
Source: Mammalian Genome - July 30, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

The Begain gene marks the centromeric boundary of the imprinted region on mouse chromosome 12Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Although the central portion of the imprinted region on mouse chromosome 12 has been intensively analysed in the past, little is known about the neighbouring centromeric genes. A DNA sequence comparison shows that the region upstream of Dlk1 and Gtl2 is dominated by an expanded cluster of repetitive elements in the mouse. These elements separate the paternally expressed Dlk1 gene from the centromeric Begain gene. Despite the long physical distance to the IG-DMR imprinting centre, Begain is subjected to genomic imprinting. Similar to the ovine Begain gene, the homologous mouse gene encodes two differen...
Source: Mammalian Genome - July 30, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

A Cmv2 QTL on chromosome X affects MCMV resistance in New Zealand male miceEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract NK cell-mediated resistance to viruses is subject to genetic control in humans and mice. Here we used classical and quantitative genetic strategies to examine NK-mediated murine cytomegalovirus (MCMV) control in genealogically related New Zealand white (NZW) and black (NZB) mice. NZW mice display NK cell-dependent MCMV resistance while NZB NK cells fail to limit viral replication after infection. Unlike Ly49H+ NK resistance in C57BL/6 mice, NZW NK-mediated MCMV control was Ly49H-independent. Instead, MCMV resistance in NZW (Cmv2) involves multiple genetic factors. To establish the genetic basis of Cm...
Source: Mammalian Genome - July 30, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Mutation discovery in the mouse using genetically guided array capture and resequencingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Forward genetics (phenotype-driven approaches) remain the primary source for allelic variants in the mouse. Unfortunately, the gap between observable phenotype and causative genotype limits the widespread use of spontaneous and induced mouse mutants. As alternatives to traditional positional cloning and mutation detection approaches, sequence capture and next-generation sequencing technologies can be used to rapidly sequence subsets of the genome. Application of these technologies to mutation detection efforts in the mouse has the potential to significantly reduce the time and resources required for...
Source: Mammalian Genome - July 25, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Mosaic heterochromatin of the inactive X chromosome in vole Microtus rossiaemeridionalisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study we compared the distribution of some histone modifications on metaphase spreads from extraembryonic endoderm and fibroblast cell lines in vole Microtus rossiaemeridionalis, which are examples of imprinted and random XCI, respectively. The X chromosome of M. rossiaemeridionalis bears a large constitutive heterochromatic block enriched with repeated DNA, making this species a useful model for studying chromatin structure. In vole fibroblasts and the majority of extraembryonic endoderm cells, the silencing of the inactive X chromosome appears to involve two types of facultative heterochromatin. The first...
Source: Mammalian Genome - July 25, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

The gastrointestinal microbiome: a malleable, third genome of mammalsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract The nonpathogenic, mutualistic bacteria of the mammalian gastrointestinal tract provide a number of benefits to the host. Recent reports have shown how the aggregate genomes of gastrointestinal bacteria provide novel benefits by functioning as the third major genome in mammals along with the nuclear and mitochondrial genomes. Consequently, efforts are underway to elucidate the complexity of the organisms comprising the unique ecosystem of the gastrointestinal tract, as well as those associated with other epidermal surfaces. The current knowledge of the gastrointestinal microbiome, its relationship t...
Source: Mammalian Genome - July 25, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Replication and narrowing of gene expression quantitative trait loci using inbred miceEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study we compared eQTL generated from gene expression profiling in the livers of two panels of mouse strains: 41 BXD recombinant inbred and 36 Mouse Diversity Panel (MDP) strains. Cis-eQTL, loci in which the transcript and its maximum QTL are colocated, have been shown to be more reproducible than trans-eQTL, which are not colocated with the transcript. We observed that between 9.9 and 12.1% of cis-eQTL and between 2.0 and 12.6% of trans-eQTL replicated between the two panels depending on the degree of statistical stringency. Notably, a significant eQTL hotspot on distal chromosome 12 observed in the BXD panel w...
Source: Mammalian Genome - July 18, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

A genomewide survey on basic helix-loop-helix transcription factors in rat and mouseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Content Type Journal ArticleCategory ErratumDOI 10.1007/s00335-009-9196-3Authors Xiaodong Zheng, Jiangsu University Institute of Life Sciences 301 Xuefu Road Zhenjiang 212013 People’s Republic of ChinaYong Wang, Jiangsu University School of Food and Biological Engineering 301 Xuefu Road Zhenjiang 212013 People’s Republic of ChinaQin Yao, Jiangsu University Institute of Life Sciences 301 Xuefu Road Zhenjiang 212013 People’s Republic of ChinaZhe Yang, Jiangsu University Institute of Life Sciences 301 Xuefu Road Zhenjiang 212013 People’s Republic of ChinaKeping Chen, Jiangsu University Institute of Life Sciences 3...
Source: Mammalian Genome - July 6, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Fine mapping of an epilepsy modifier gene on mouse Chromosome 19Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Mutations in voltage-gated sodium channels are associated with several types of human epilepsy. Variable expressivity and penetrance are common features of inherited epilepsy caused by sodium channel mutations, suggesting that genetic modifiers may influence clinical severity. The mouse model Scn2a Q54 has an epilepsy phenotype due to a mutation in Scn2a that results in elevated persistent sodium current. Phenotype severity in Scn2a Q54 mice is dependent on the genetic background. Congenic C57BL/6J.Q54 mice have delayed onset and low seizure frequency compared to (C57BL/6J × SJL/J)...
Source: Mammalian Genome - June 10, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Shadoo (Sprn) and prion disease incubation time in miceEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Prion diseases are transmissible neurodegenerative disorders of mammalian species and include scrapie, bovine spongiform encephalopathy (BSE), and variant Creutzfeldt-Jakob disease (vCJD). The prion protein (PrP) plays a key role in the disease, with coding polymorphism in both human and mouse influencing disease susceptibility and incubation time, respectively. Other genes are also thought to be important and a plausible candidate is Sprn, which encodes the PrP-like protein Shadoo (Sho). Sho is expressed in the adult central nervous system and exhibits neuroprotective activity reminiscent of PrP in...
Source: Mammalian Genome - June 10, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

A novel ENU-induced mutation, peewee, causes dwarfism in the mouseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract We identified a novel fertile autosomal recessive mutation called peewee that results in dwarfing, in a region-specific ENU-induced mutagenesis. These mice at litter size were smaller those of other strains. Histological analysis revealed that the major organs appear normal, but abnormalities in cellular proliferation were observed in bone, liver, and testis. Haplotype analysis localized the peewee gene to a 3.3-Mb region between D5Mit83 and D5Mit356.3. There are 18 genes in this linkage area. We also performed in silico mapping using the PosMedSM program, which searches for connections among keywords...
Source: Mammalian Genome - June 10, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Imprint switch mutations at Rasgrf1 support conflict hypothesis of imprinting and define a growth control mechanism upstream of IGF1Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Rasgrf1 is imprinted and expressed preferentially from the paternal allele in neonatal mouse brain. At weaning, expression becomes biallelic. Using a mouse model, we assayed the effects of perturbing imprinted Rasgrf1 expression in mice with the following imprinted expression patterns: monoallelic paternal (wild type), monoallelic maternal (maternal only), biallelic (both alleles transcribed), and null (neither allele transcribed). All genotypes exhibit biallelic expression around weaning. Consequences of this transient imprinting perturbation are manifested as overall size differences that corres...
Source: Mammalian Genome - June 10, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary HypotrichosisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Hairpoor mice (Hr Hp ) were derived through N-ethyl-N-nitrosourea (ENU) mutagenesis. These mice display sparse and short hair in the Hr Hp /+ heterozygous state and complete baldness in the Hr Hp /Hr Hp homozygous state. This phenotype was irreversible and was inherited in an autosomal semidominant manner. Hair follicles (HFs) of Hr Hp /+ mice underwent normal cycling and appeared normal, although smaller than those of the wild-type mice. In contrast, HFs of Hr Hp /Hr Hp mice became cyst-like structures by postnatal day (P) 21. The number and length of vibrissae d...
Source: Mammalian Genome - June 10, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Mice hypomorphic for Atr have increased DNA damage and abnormal checkpoint responseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract The ATR checkpoint pathway responds to DNA damage during the S/G2 phases of the cell cycle and is activated early in tumorigenesis. Investigation of ATR’s role in development and tumorigenesis is complicated by the lethality of homozygous knockout mice and the limited effects of heterozygous deficiency. To overcome this limitation, we sought to create mice with a hypomorphic Atr mutation based on the ATR mutation in the human disease Seckel syndrome-1 (SCKL1). Homozygous SCKL1 mice were generated by targeted knock-in of the A → G SCKL1 mutation. Western blot and RT-PCR analysis establ...
Source: Mammalian Genome - June 7, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

A genome-wide scan for quantitative trait loci affecting serum glucose and lipids in a White Duroc × Erhualian intercross F2 populationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Serum glucose and lipid levels are associated with diabetes mellitus and cardiovascular disease. The purpose of this study was to identify quantitative trait loci (QTL) for serum glucose and lipids in a White Duroc × Erhualian resource population. Serum glucose, glycosylated serum proteins (GSP), and serum lipid levels were measured in a total of 760 F2 animals at 240 days. Strong positive correlations were observed between total cholesterol (TC) and low-density-lipoprotein cholesterol (LDL-C)/high-density-lipoprotein cholesterol (HDL-C). A whole-genome scan was performed with 194 mic...
Source: Mammalian Genome - June 4, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Placental overgrowth and fertility defects in mice with a hypermorphic allele of epidermal growth factor receptorEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study we used mice with the hypermorphic Egfr Dsk5 allele to study the effects of increased levels of EGFR signaling on placental development. On three genetic backgrounds, heterozygosity for Egfr Dsk5 resulted in larger placental size with a more prominent spongiotrophoblast layer and increased expression of glycogen cell-specific genes. The C3HeB/FeJ strain showed additional placental enlargement of Egfr Dsk5 homozygotes with a significant number of homozygous embryos dying prior to 15.5 days post-coitus (dpc). We also observed strain-specific subfertility in Egfr Dsk5 heterozygous females...
Source: Mammalian Genome - May 24, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Next-generation sequencing of vertebrate experimental organismsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Next-generation sequencing technologies are revolutionizing biology by allowing for genome-wide transcription factor binding-site profiling, transcriptome sequencing, and more recently, whole-genome resequencing. While it is currently not possible to generate complete de novo assemblies of higher-vertebrate genomes using next-generation sequencing, improvements in sequence read lengths and throughput, coupled with new assembly algorithms for large data sets, will soon make this a reality. These developments will in turn spawn a revolution in how genomic data are used to understand genetics and how m...
Source: Mammalian Genome - May 19, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Murine models of colorectal cancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Colorectal cancer is one of the most prevalent cancers of humans. To experimentally investigate this common disease, numerous murine models have been established. These models accurately recapitulate the molecular and pathologic characteristics of human colorectal cancers, including activation of the myelocytomatosis oncogene (MYC), which has recently been suggested to be a key mediator of colorectal cancer development. This review focuses on the variety of murine models of human colorectal cancer that are available to the research community and on their use to identify common and distinct character...
Source: Mammalian Genome - May 15, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

RandoMate: a program for the generation of random mating schemes for small laboratory animalsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Advanced intercross lines (AIL) have proven to be a powerful tool in genetic research to map complex genetic traits. The advantage of AIL is the high enrichment of visible recombination events to fine map the position of the target gene. Therefore, AIL are generated under the avoidance of inbreeding. We developed an online software tool, RandoMate, that generates random mating schemes such that only animals from different families are paired. When animals have to be selected randomly for mating, RandoMate optimizes the mating scheme such that all families contribute equally to the next generation. Ra...
Source: Mammalian Genome - May 15, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Diversification of TOLLIP isoforms in mouse and manEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract The Toll-interacting protein TOLLIP is an ubiquitin-binding protein that interacts with several components of the Toll-like receptor signaling cascade. The canonical protein consists of three annotated domains: an N-terminal TBD-loop-coil domain that mediates protein-protein interactions, a C2 domain that targets TOLLIP to the endosome, and a CUE domain at the C-terminus that binds monoubiquitin. TOLLIP has been described primarily in trafficking of the interleukin-1 receptor (IL1R) and turnover of the interleukin-1 receptor-associated kinase (IRAK), so it is an essential regulator of inflammatory s...
Source: Mammalian Genome - May 15, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Intra- and inter-individual genetic differences in gene expressionEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Genetic variation is known to influence the amount of mRNA produced by a gene. Because molecular machines control mRNA levels of multiple genes, we expect genetic variation in components of these machines would influence multiple genes in a similar fashion. We show that this assumption is correct by using correlation of mRNA levels measured from multiple tissues in mouse strain panels to detect shared genetic influences. These correlating groups of genes (CGGs) have collective properties that on average account for 52–79% of the variability of their constituent genes and can contain genes that enc...
Source: Mammalian Genome - May 8, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

Evidence of maternal QTL affecting growth and obesity in adult miceEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Most quantitative trait loci (QTL) studies fail to account for the effect that the maternal genotype may have on an individual’s phenotypes, even though maternal effect QTL have been shown to account for considerable variation in growth and obesity traits in mouse models. Moreover, the fetal programming theory suggests that maternal effects influence an offspring’s adult fitness, although the genetic nature of fetal programming remains unclear. Within this context, our study focused on mapping genomic regions associated with maternal effect QTL by analyzing the phenotypes of chromosomes 2 and 7 ...
Source: Mammalian Genome - April 28, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals

An N-ethyl-N-nitrosourea mutagenesis recessive screen identifies two candidate regions for murine cardiomyopathy that map to chromosomes 1 and 15Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract N-ethyl-N-nitrosourea (ENU) mutagenesis screens have been successful for identifying genes that affect important biological processes and diseases. However, for heart-related phenotypes, these screens have been employed exclusively for developmental phenotypes, and to date no adult cardiomyopathy-causing genes have been discovered through a mutagenesis screen. To identify novel disease-causing and disease-modifying genes for cardiomyopathy, we performed an ENU recessive mutagenesis screen in adult mice. Using noninvasive echocardiography to screen for abnormalities in cardiac function, we identifi...
Source: Mammalian Genome - April 23, 2009 Category: Genetics & Stem Cells Tags: Mammalian Genome Source Type: journals