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Updated: Jan 8, 2026

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I

Published on: April 10, 2018

MEI4变异通过受损的卵细胞丰度和发育潜力驱动女性生殖障碍

Yiyang Wang¹, Yu Qi², Keyan Xu²

¹State Key Laboratory of Reproductive Medicine and Offspring Health, Center for Reproductive Medicine, Institute of Women, Children and Reproductive Health, Department of Obstetrics and Gynecology, Qilu Hospital, Shandong University, Jinan, Shandong 250012, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, Jinan, Shandong 250012, China; Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan, Shandong 250012, China; Shandong Technology Innovation Center for Reproductive Health, Jinan, Shandong, 250012, China; Shandong Provincial Clinical Research Center for Reproductive Health, Jinan, Shandong, 250012, China; Shandong Key Laboratory of Reproductive Research and Birth Defect Prevention, Jinan, Shandong, 250012, China; Research Unit of Gametogenesis and Health of ART-Offspring, Chinese Academy of Medical Sciences (No.2021RU001), Jinan, Shandong, 250012, China.

Journal of genetics and genomics = Yi chuan xue bao

|December 19, 2025

概括

MEI4基因的突变破坏了DNA双链断裂的形成,影响了卵细胞的发育,并导致过早的卵巢缺陷 (POI) 和早期胚胎停止. 这突出了MEI4的意义.

科学领域:

生殖生物学生殖生物学
遗传学是一个遗传学.
细胞生物学细胞生物学

背景情况:

介质DNA双链断裂 (DSB) 形成对卵细胞发育至关重要,调节卵巢储备和发育潜力.
DSB形成基因的突变与早产卵巢缺陷 (POI) 和不良妊娠结果有关.

研究的目的:

研究MEI4基因在DSB形成中的作用及其与POI的关联.
阐明MEI4突变在卵细胞发育和生育能力的基础上的分子机制.

主要方法:

在两个中国队列中的1530名POI患者身上进行了整体外基因组测序.
实验室试验用于评估MEI4变异对DSB形成的影响.
分析了Mei4突变小鼠模型 (Mei4^{Arg356*/Arg356*}和Mei4^+/Arg356*) 的卵细胞缺陷和生育能力.

主要成果:

在POI患者中,MEI4的功能丧失变异显著丰富.
MEI4变种影响了DSB的形成,并揭示了MEI4 C端在稳定MEI4-REC114亚复合体中的作用.
梅4突变小鼠表现出严重的DSB缺陷,卵细胞亡,无体积,早期胚胎停产和卵泡枯竭,异构卵性小鼠表现出哈普洛缺陷.

结论:

MEI4突变是POI和早期胚胎停产的重要原因,原因是中介性DSB形成受损.
该研究确定了MEI4突变对卵细胞数量和质量的影响.
结果可以指导POI和胚胎停产的遗传诊断和干预,特别是在涉及中介性DSB形成基因的情况下.

关键词:

DNA双链断裂形成的形成女性生殖系统疾病妇女生殖系统疾病梅尔4是什么意思?梅尔4是什么意思?介质变化 (Meiosis) 是一个过程.植入前胚胎停产胚胎停产过早的卵巢功能不充分

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