Species: mouse
Mutation name: None
type: naturally occurring
fertility: fertile
Comment: An Integrative Genomic Analysis of the Superior Fecundity Phenotype in QSi5 Mice. Wei J et al. Laboratory inbred mouse models are a valuable resource to identify quantitative trait loci (QTL) for complex reproductive performance traits. Advances in mouse genomics and high density single nucleotide polymorphism mapping has enabled genome-wide association studies to identify genes linked with specific phenotypes. Gene expression profiles of reproductive tissues also provide potentially useful information for identifying genes that play an important role. We have developed a highly fecund inbred strain, QSi5, with accompanying genotyping for comparative analysis of reproductive performance. Here we analyzed the QSi5 phenotype using a comparative analysis with fecundity data derived from 22 inbred strains of mice from the Mouse Phenome Project, and integration with published expression data from mouse ovary development. Using a haplotype association approach, 400 fecundity-associated regions (FDR?

Species: human
Mutation name: None
type: naturally occurring
fertility: subfertile
Comment: Wood JR, et al reported the molecular phenotype of polycystic ovary syndrome (PCOS) Theca cells and new candidate PCOS genes defined by microarray analysis. Polycystic ovary syndrome (PCOS) affects 5 percent of reproductive aged women and is the leading cause of anovulatory infertility. A hallmark of PCOS is excessive theca cell androgen secretion, which is directly linked to the symptoms of PCOS. However, the genes responsible for ovarian hyperandrogenemia of PCOS have not been identified. In this present study, the authors carried out microarray analysis to define the gene networks involved in excess androgen synthesis by the PCOS theca cells in order to identify candidate PCOS genes. PCOS theca cells have a gene expression profile that is distinct from normal theca cells. Included in the cohort of genes with increased mRNA abundance in PCOS theca cells were aldehyde dehydrogenase 6 and retinol dehydrogenase 2, which play a role in all-trans retinoic acid biosynthesis and the transcription factor GATA6. The authors demonstrated that retinoic acid and GATA6 increased the expression of 17a-hydroxylase providing a functional link between altered gene expression and intrinsic abnormalities in PCOS theca cells. Thus, the analyses have (1) defined a stable molecular phenotype of PCOS theca cells; (2) suggested new mechanisms for excess androgen synthesis by PCOS theca cells; and (3) identified new candidate genes that may be involved in the genetic etiology of PCOS.