BMC Genetics - Latest articlesThe latest articles from BMC Genetics (ISSN 1471-2156) published by BioMed CentralOverexpression of Scg5 increases enzymatic activity of PCSK2 and is inversely correlated with body weight in congenic mice- April 25, 2008 Background: The identification of novel genes is critical to understanding the molecular basis of body weight. Towards this goal, we have identified secretogranin V (Scg5; also referred to as Sgne1), as a candidate gene for growth traits. Results: Through a combination of DNA microarray analysis and quantitative PCR we identified a strong expression quantitative trait locus (eQTL) regulating Scg5 expression in two mouse chromosome 2 congenic strains and three additional F2 intercrosses. More...http://www.biomedcentral.com/1471-2156/9/34 A single nucleotide polymorphism in CAPN1 associated with marbling score in Korean cattle- April 19, 2008 Background: Marbling score (MS) is the major quantitative trait that affects carcass quality in beef cattle. In this study, we examined the association between genetic polymorphisms of the micromolar calcium-activated neutral protease gene (micro-calpain, CAPN1) and carcass traits in Korean cattle (also known as Hanwoo). Results: By direct DNA sequencing in 24 unrelated Korean cattle, we identified 39 sequence variants within exons and their flanking regions in CAPN1. Among them, 12 common...http://www.biomedcentral.com/1471-2156/9/33 Autosomal mutations affecting Y chromosome loops in Drosophila melanogaster- April 11, 2008 Background: The Y chromosome of Drosophila melanogaster harbors several genes required for male fertility. The genes for these fertility factors are very large in size and contain conspicuous amounts of repetitive DNA and transposons. Three of these loci (ks-1, kl-3 and kl-5) have the ability to develop giant lampbrush-like loops in primary spermatocytes, a cytological manifestation of their active state in these cells. Y-loops bind a number of non-Y encoded proteins, but the mechanisms...http://www.biomedcentral.com/1471-2156/9/32 Polymorphisms of Glutathione S-transferases Omega-1 among ethnic populations in China- April 10, 2008 Background: Glutathione S-transferases (GSTs) is a genetic factor for many diseases and exhibits great diversities among various populations. We assessed association of the genotypes of Glutathione S-transferases Omega-1 (GSTO1) A140D with ethnicity in China. Results: Peripheral blood samples were obtained from 1314 individuals from 14 ethnic groups. Polymorphisms of GSTO1 A140D were measured using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Logistic...http://www.biomedcentral.com/1471-2156/9/29 GpnmbR150X allele must be present in bone marrow derived cells to mediate DBA2J glaucoma- April 10, 2008 Background: The Gpnmb gene encodes a transmembrane protein whose function(s) remain largely unknown. Here, we assess if a mutant allele of Gpnmb confers susceptibility to glaucoma by altering immune functions. DBA2J mice have a mutant Gpnmb gene and they develop a form of glaucoma preceded by a pigment dispersing iris disease and abnormalities of the immunosuppressive ocular microenvironment. Results: We find that the Gpnmb genotype of bone-marrow derived cell lineages significantly influences..http://www.biomedcentral.com/1471-2156/9/30 Nucleotide diversity and population differentiation of the Melanocortin 1 Receptor gene, MC1R- April 10, 2008 Background: The melanocortin 1 receptor gene (MC1R) is responsible for normal pigment variation in humans and is highly polymorphic with numerous population-specific alleles. Some MC1R variants have been associated with skin cancer risk. Results: Allele frequency data were compiled on 55 single nucleotide polymorphisms from seven geographically distinct human populations (n = 2306 individuals). MC1R nucleotide diversity, , was much higher (10.1 10-4) than in other genes for all subjects. A...http://www.biomedcentral.com/1471-2156/9/31 Very mild disease phenotype of congenic CftrTgH(neoim)Hgu cystic fibrosis mice- April 9, 2008 Background: A major boost to cystic fibrosis disease research was given by the generation of various mouse models using gene targeting in embryonal stem cells. Moreover, the introduction of the same mutation on different inbred strains generating congenic strains facilitated the search for modifier genes. From the original CftrTgH(neoim)Hgu mouse model with a divergent genetic background (129Sv, C57BL6, HsdOla:MF1) two inbred mutant mouse strains CF1-CftrTgH(neoim)Hgu and CF3-CftrTgH(neoim)Hgu..http://www.biomedcentral.com/1471-2156/9/28 |