卵母细胞
线粒体
人口
线粒体DNA
细胞生物学
基因
生物
遗传学
医学
胚胎
环境卫生
作者
Zhihua Zhang,Ran Yu,Qiuwen Shi,Zhi-Jing Wu,Qingchun Li,Jian Mu,Biaobang Chen,Juanzi Shi,Renmin Ni,Ling Wu,Qiaoli Li,Jing Fu,Rong Li,Xiaoxi Sun,Jiucun Wang,Lin He,Yanping Kuang,Qing Sang,Lei Wang
标识
DOI:10.1073/pnas.2406174121
摘要
Mitochondria play diverse roles in mammalian physiology. The architecture, activity, and physiological functions of mitochondria in oocytes are largely different from those in somatic cells, but the mitochondrial proteins related to oocyte quality and reproductive longevity remain largely unknown. Here, using whole-exome sequencing data from 1,024 women (characterized by oocyte maturation arrest and degenerated or morphologically abnormal oocytes) and 2,868 healthy controls, we performed a population and gene-based burden test for mitochondrial genes and identified a candidate gene, cytochrome c oxidase assembly protein 15 (
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