缺少DNAH14会破坏精子环的定位,并影响后代的产后发育
Xiang Wang1, Gan Shen1, Jinhui Li2
1Department of Obstetrics/Gynecology, Key Laboratory of Birth Defects and Related Disease of Women and Children of MOE, West China Second University Hospital, Sichuan University, Chengdu, China.
Human reproduction (Oxford, England)
|February 13, 2026
概括
缺少DNAH14会破坏精子的结构和运动性,导致人类和小鼠的男性不孕. 这种基因对精子鞭毛完整性和环形位置至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 生殖生物学 生殖生物学
- 分子生物学分子生物学
背景情况:
- 轴膜二烯酸重链 (DNAH) 基因中的致病变体与男性不孕症和原发性纤维动力障碍有关.
- 在此之前,DNAH14在男性生育能力中的作用未被定义.
研究的目的:
- 调查DNAH14缺乏在精子鞭状完整性和男性不孕症中的作用.
- 为了建立DNAH14变异的基因型-表型关联.
主要方法:
- 使用全外体序列测序对不育男性进行遗传分析.
- 一个CRISPR-Cas9 Dnah14淘汰赛 (KO) 鼠标模型的生成和分析.
- 精子形态,运动性和鞭毛结构分析 (SEM,TEM,免疫光,CASA).
主要成果:
- 在两名患有阿斯诺特拉托动物精子症的不育男性中发现了双基DNAH14变异.
- 在人类和小鼠中,DNAH14缺乏导致精子环的定位受损,线粒体失调,运动能力降低.
- Dnah14 KO小鼠表现出具有精子缺陷的亚生育能力,但非生殖组织不受影响.
结论:
- DNAH14对于精子鞭状结构,环状位置和男性生育能力至关重要.
- DNAH14 缺乏导致精子功能受损和男性不孕.
- DNAH14可能通过精子表观遗传机制影响后代的发育.
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