在女性不孕症中发现的一种异卵性SPRY4变体,其特点是卵细胞潜力降低和早期胚胎停产

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Updated: Jun 11, 2025

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

Lingjin Xia¹, Jiami Huang^1,2, Qi Che³

¹Shanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Pharmacy School, Fudan University, Shanghai, PR China.

Human reproduction (Oxford, England)

|September 30, 2024

概括

在不孕妇女中发现了SPRY4基因的新型致病变体,导致早期胚胎停产. 这一发现凸显了SPRY4的重要意义.

科学领域:

遗传学遗传学是一个
生殖生物学生殖生物学
发展生物学发展生物学

背景情况:

SPRY4 (芽RTK信号对抗剂4) 是受体氨酸激酶 (RTKs) 的负调节剂和瘤抑制剂.
异常的SPRY4表达与反复流产和男性性性性性性有关.
之前的研究还没有确定SPRY4变体与女性不孕症或早期胚胎停产之间的因果关系.

研究的目的:

确定导致不育患者早期胚胎停产的新型遗传因素.
研究致病性SPRY4变体在女性生殖中的潜在机制.

主要方法:

在392名不育妇女中进行全外体测序 (WES).
使用HEK293T细胞进行体外研究 (西部涂抹).
在小鼠卵细胞,胚胎和Spry4淘汰赛 (KO) 小鼠的体内研究 (cRNA注射,RNA测序,RT-qPCR,组织学,ELISA).

主要成果:

在一个患有初级不孕症的家庭中,发现了一种SPRY4的异构性致病变体 (c.157C>T p.(Arg53Trp).
该SPRY4变体降低了蛋白质水平,破坏了小鼠卵细胞中的氧化还原和线粒体功能,并损害了小鼠胚胎发育.
Spry4-/-小鼠表现出卵巢氧化应激和卵巢功能下降.

结论:

一种致病性SPRY4变体与人类的早期胚胎停产有关.
这一发现扩大了对SPRY4在早期胚胎发育中的作用的理解.
SPRY4变异代表了女性不孕症的一个潜在的新遗传标志物.

关键词:

这就是SPRY4的意义.早期的胚胎停产.胚胎胚胎是一个胚胎.女性不孕症女性不孕症异构体的异构体是什么门德利病是门德利人的疾病.鼠标鼠标鼠标鼠标卵子细胞卵子细胞变种变种变种变种变种整体外因子测序的测序

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