在人类生殖系中转录相关突变发生的性别差异
Minyoung J Wyman1, Ipsita Agarwal1,2, Marc de Manuel1,3
1Department of Biological Sciences, Columbia University, New York, NY 10027, USA.
bioRxiv : the preprint server for biology
|September 26, 2025
概括
生殖线突变率显示了性别差异,转录对男性和女性体育生殖产生有不同的影响. 这项研究揭示了转录.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 生殖生物学 生殖生物学
背景情况:
- 人类生殖系突变率在男性中比女性高3-4倍.
- 转录是体细胞中DNA损伤和修复的已知来源.
- 转录在性别特异性生殖系突变率中的作用在很大程度上是未知的.
研究的目的:
- 研究人类生殖系突变中转录和性别差异之间的关联.
- 为了确定转录是否在雄性和雌性性生殖过程中不同地影响突变率.
主要方法:
- 对单细胞生殖系表达数据在雄性和雌性体育生成阶段的分析.
- 使用来自血统数据的分阶段de novo突变.
- 检查转录不对称性及其与蛋白质编码基因突变率的相关性.
主要成果:
- 在精子生成过程中,男性突变率和平均基因表达之间没有总体相关性.
- 具体的精子生成阶段表现出不同的关联:对干细胞/精子呈阳性,对初级精子细胞呈阴性.
- 雌性突变率随着毛囊生成期间的平均转录水平显著增加.
- 转录对突变率的影响的性别差异在不同的数据集中是一致的.
结论:
- 转录对男性体育生殖过程中的突变率具有明显的,特定阶段的影响.
- 转录与女性毛囊生成中的突变率具有正相关性.
- 这些发现解释了生殖线突变率的性别差异,转录对女性突变的贡献更大.
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