精子形态缺陷导致男性不孕症的病例中的SPEM1基因突变
Shruti Sethi1,2, Poonam Mehta1,2, Waseem Andrabi3
1Central Drug Research Institute, Lucknow, Uttar Pradesh, India.
Reproductive sciences (Thousand Oaks, Calif.)
|June 17, 2024
概括
这项研究确定了一种新型的SPEM1基因突变,导致状精子尾巴在一个患有类精子不孕症的患者身上. 这一发现是首次将SPEM1突变与人类这种特殊的精子缺陷联系起来.
科学领域:
- 遗传学 遗传学 是一个
- 生殖生物学 生殖生物学
- 人类分子遗传学
背景情况:
- 类精子不孕症影响着世界各地的许多夫妇.
- 卷曲的精子尾巴 (卷轴中的头) 代表一种特定的形态缺陷,影响精子的运动和受精.
- 类精子不孕症的遗传基础,特别是卷状精子尾巴,仍然在很大程度上没有被描述.
研究的目的:
- 为了确定一个男性患者表现出卷状精子尾巴的基因突变,负责teratozoospermic不孕症.
- 研究SPEM1基因在人类精子生成和精子形态学中的作用.
主要方法:
- 在不育的男性患者身上进行了整体外体序列 (WES) 测序.
- 应用了WES数据的严格生物信息选,包括小等位基因的频率,保护得分和预测的致病性.
- 候选变体进一步根据它们在精子生成中的潜在作用来优先考虑.
主要成果:
- 在SPEM1基因中发现了一种异构基因突变c.826C>T (Arg276Trp).
- 这种SPEM1突变在gnomAD和印度基因组变异数据库等人口数据库中不存在.
- 这种已识别的突变是SPEM1中首次报告的,与人类的卷状精子尾巴相关.
结论:
- 异性SPEM1基因突变c.826C>T (Arg276Trp) 是该患者状精子尾巴的类精子不孕症的可能原因.
- 这项研究确立了SPEM1和人类精子尾巴形态之间的新型遗传联系.
- 需要进一步的研究来阐明SPEM1突变影响精子发育的确切机制.
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