核糖体DNA中的生殖系序列变异与人类复杂的特征有关
Francisco Rodriguez-Algarra1,2, Maia Cooper3, Faraz K Mardakheh3
1The Blizard Institute, School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK.
bioRxiv : the preprint server for biology
|February 20, 2025
概括
核糖体DNA (rDNA) 序列中的生殖系变异,而不仅仅是拷贝数,与人类特征有关. 特定的rDNA变异,特别是在28SrRNA中,与身体大小相关,独立于总rDNA拷贝数.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 人体生理学 人体生理学
背景情况:
- 核糖体是必要的细胞机械,与核糖体RNAs (rRNAs) 编码的多副本核糖体DNA (rDNA).
- 在物种中,rDNA在拷贝数和序列 (SNV,INDEL) 中表现出显著的变化.
- 生殖线rDNA序列变异与人类表型特征之间的关联在很大程度上仍未被探索.
研究的目的:
- 研究人类rDNA的生殖系序列变异与表型特征之间的关联.
- 使用大规模基因组数据识别与人类复杂特征相关的特定rDNA变异.
主要方法:
- 利用英国生物库的全基因组测序数据.
- 导出并验证了与rDNA相关的单核酸变异 (SNV) 和插入/删除 (INDEL) 的高可靠性列表.
- 在已识别的rDNA变体和各种人类特征之间进行关联分析,控制rDNA拷贝数.
主要成果:
- 确定了与多个人类特征显著相关的特定rDNA变异.
- 观察到与身体尺寸特征相关的28S rRNA在扩张段15L区域内的变异的丰富.
- 即使考虑到总rDNA拷贝数,这些关联仍然很重要.
结论:
- 在rDNA中的生殖系序列变异是一个重要的,但被忽视的,影响人类复杂特征的遗传变异来源.
- 特定的rDNA序列变异,特别是在28SrRNA中,与身体大小等特征有关.
- 这项研究开创了与人类表型的rDNA序列变异的大规模关联分析.
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