Ovarian bottleneck genes associated with infertility.
A valuable approach to the study of infertility is the comparison of mutations of individual human and mouse genes associated with infertility phenotypes. The individual gene pages in the OKdb (Ovarian Kaleidoscope Database: http://ovary.stanford.edu) contain information on associated fertility phenotypes sorted by ovarian and nonovarian defects and by subfertility or infertility. If one searches for null mutations (under mutation type) causing infertility (infertile - ovarian defect, under female fertility status) in mice (under species), 44 gene entries are found. The expression of these infertility genes in the oocyte and granulosa cells together with their cellular localization is presented in Ovarian Infertility gene map. The theca cell genes are not presented because most publications emphasize granulosa cell studies.
Proteins on this pathway have targeted assays available via the [https://assays.cancer.gov/available_assays?wp_id=WP34 CPTAC Assay Portal]d61f74e77df3df3df3b04e77df3d6134501340PubMedFMR1 and AKT/mTOR Signaling in Human Granulosa Cells: Functional Interaction and Impact on Ovarian ResponseDOI: 10.3390/jcm101738922021Rehnitz JCapp EMessmer BNguyen XPGermeyer AFreis ADietrich JEHinderhofer KStrowitzki TVogt PHinfertilityDOID:5223Disease34786213PubMedlncRNA DDGC participates in premature ovarian insufficiency through regulating RAD51 and WT1DOI: 10.1016/j.omtn.2021.10.0152021Li DXu WWang XDang YXu LLu GChan WYLeung PCKZhao SQin Y32403258PubMedCombining Bioinformatics and Experiments to Identify CREB1 as a Key Regulator in Senescent Granulosa CellsDOI: 10.3390/diagnostics100502952020Lin PHLin LLi CKao PGTsai HWChen SNWen ZHWang PTsui KH30992313PubMedHigh-throughput Exploration of the Network Dependent on AKT1 in Mouse Ovarian Granulosa Cellsdoi: 10.1074/mcp.RA1192019Elzaiat MHerman LLegois BLéger TTodeschini ALVeitia RAoocyteCL:0000023Cell Type34501340PubMedFMR1 and AKT/mTOR Signaling in Human Granulosa Cells: Functional Interaction and Impact on Ovarian ResponseDOI: 10.3390/jcm101738922021Rehnitz JCapp EMessmer BNguyen XPGermeyer AFreis ADietrich JEHinderhofer KStrowitzki TVogt PHurogenital disease pathwayPW:0001699Pathway Ontologygranulosa cellCL:0000501Cell Type