Meiosis interrupted: the genetics of female infertility via meiotic failure.
Meiosis interrupted: the genetics of female infertility via meiotic failure.
复制标题
减数分裂中断：女性不育症通过减数分裂衰竭的遗传学。
DOI：
10.1530/rep-20-0422
复制
发表时间：
2021-03
期刊：
影响因子：
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通讯作者：
Schindler K
中科院分区：
文献类型：
--
作者：
Biswas L;Tyc K;El Yakoubi W;Morgan K;Xing J;Schindler K
Idiopathic or “unexplained” infertility represents as many as 30% of infertility cases worldwide. Conception, implantation, and term delivery of developmentally healthy infants require chromosomally normal (euploid) eggs and sperm. The crux of euploid egg production is error-free meiosis. Pathologic genetic variants dysregulate meiotic processes that occur during prophase I, meiotic resumption, chromosome segregation, and in cell-cycle regulation. This dysregulation can result in chromosomally abnormal (aneuploid) eggs. In turn, egg aneuploidy leads to a broad range of clinical infertility phenotypes, including primary ovarian insufficiency and early menopause, egg fertilization failure and embryonic developmental arrest, or recurrent pregnancy loss. Therefore, maternal genetic variants are emerging as infertility biomarkers, which could allow informed reproductive decision-making. Here, we select and deeply examine human genetic variants that likely cause dysregulation of critical meiotic processes in 14 female infertility-associated genes: SYCP3, SYCE1, TRIP13, PSMC3IP, DMC1, MCM8, MCM9, STAG3, PATL2, TUBB8, CEP120, AURKB, AURKC, and WEE2. We discuss the function of each gene in meiosis, explore genotype-phenotype relationships, and delineate the frequencies of infertility-associated variants.
