致病性TEX14变种破坏细胞间桥梁的形成,在人类和小鼠中引起精子停止和非阻塞性亚子精子症
Jianze Xu1,2,3,4,5,6,7, Tongtong Li1,2,3,4,5,6,7, Yuwei Hu1,2,3
1State Key Laboratory of Reproductive Medicine and Offspring Health, Center for Reproductive Medicine, Institute of Women, Children and Reproductive Health, Shandong University, Jinan, China.
Andrology
|January 28, 2026
概括
在TEX14中失去功能的突变会通过在化过程中破坏细胞间桥梁 (ICB) 的形成,导致非阻塞性精 (NOA). 这项研究确定了TEX14新型变体,并证实了它们在男性不孕症中的作用.
科学领域:
- 遗传学 是一个遗传学.
- 生殖生物学 生殖生物学
- 男人不孕不育的情况
背景情况:
- 非阻塞性精症 (NOA) 是男性不孕症的重要原因之一.
- 人们还不完全了解NOA的遗传基础,特别是先天性因素.
研究的目的:
- 识别和描述与NOA相关的新型遗传变异.
- 专注于TEX14基因在变过程中细胞间桥梁 (ICB) 形成中的作用.
主要方法:
- 673名NOA患者,143名橄动物精子症患者和100名对照患者的外体序列测序.
- 对TEX14变种的识别和桑格测序确认.
- 对TEX14表达及其对精子生成和ICB形成的影响的功能分析 (qPCR,西部斑,小鼠模型).
主要成果:
- 在四名不育的男性中发现了六种新的TEX14变体 (框架转移,误解,拼接).
- 一个具有TEX14位变异突变 (Tex14MT1/MT1) 的小鼠模型表现出NOA表型,缺少ICBs,并在zygotene阶段发生中性停止.
- 患者和小鼠的研究证实了TEX14在ICB形成和介质性进展中的重要作用.
结论:
- 功能丧失的TEX14突变破坏了ICB的形成,导致人类和小鼠的齐哥停产和NOA.
- 扩大与NOA相关的已知遗传变异.
- 确立了TEX14在男性生育能力和介质进展中的关键作用.
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