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在ZSWIM7基因中复合异合体变异与不孕症有关,以及它在生殖腺发育中的作用
Denise M Christofolini1,2, Guilherme Pinn1, Thainá Vilella3
1Department of Collective Health, Genetics Division, Centro Universitário FMABC, Santo André, Brazil.
American journal of medical genetics. Part A
|April 17, 2025
概括
ZSWIM7基因与男性和女性的不孕症有关. 在ZSWIM7中功能丧失的变体会破坏淋巴体的发育和功能,导致过早的卵巢衰竭和亚精子症等疾病.
科学领域:
- 遗传学 是一个遗传学.
- 生殖生物学 生殖生物学
- 分子生物学分子生物学
背景情况:
- 不孕症影响人口的很大一部分,遗传因素起着至关重要的作用.
- 过早的卵巢衰竭 (POI) 和亚精是导致生殖功能衰竭的主要原因.
- 人类繁殖中ZSWIM7基因的作用仍然不完全理解.
研究的目的:
- 研究ZSWIM7基因变异与不孕症病因之间的关联.
- 在患有原发性 amenorrhea 和低阴性症的患者中描述不孕症的遗传基础.
- 探索ZSWIM7功能丧失变体对生殖腺发育的功能影响.
主要方法:
- 全基因组测序 (WGS) 用于识别基因变异和副本数变异 (CNVs).
- 进行G-绑定型分析和FMR1前变异测试.
- 在状网络分析中预测基因相互作用.
主要成果:
- 鉴定了ZSWIM7变异的化合物异构性在患有原发性缺血症的患者中:一种致病性单核酸变异 (SNV) 和基因删除.
- 这是ZSWIM7首次报告的化合物异构性病例,涉及基删除和CNV.
- 在分析中,ZSWIM7与DNA修复和性腺发育至关重要的基因相互作用.
结论:
- 在ZSWIM7中功能丧失的致病变体与两性不育有关.
- 在男性和女性生殖腺的形成和维护中,ZSWIM7起着至关重要的作用.
- 这些发现扩大了对不孕不育的遗传原因的理解,并强调ZSWIM7作为潜在的治疗点.
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