具有疾病表型的人类进化新基因揭示了由适应性创新和性选择塑造的功能丰富模式
Jian-Hai Chen1,2, Patrick Landback1, Deanna Arsala1
1Department of Ecology and Evolution, The University of Chicago, 1101 E 57th Street, Chicago, IL 60637.
bioRxiv : the preprint server for biology
|December 4, 2023
概括
新基因对人类进化至关重要,影响疾病和独特的特征. 较老的基因积累了更多有害的变异,而年轻的基因推动了创新,特别是在生殖和大脑发育方面.
科学领域:
- 进化生物学是进化的生物学.
- 人类遗传学 人类遗传学
- 基因组学就是基因组学.
背景情况:
- 新基因 (年轻基因) 是哺乳动物进化的关键,但它们对人类的影响尚不清楚.
- 由于技术和伦理问题,年轻基因的功能研究是复杂的.
研究的目的:
- 研究基因年龄在人类疾病和进化中的作用.
- 分析基因在不同年龄段的进化模式和表型影响.
主要方法:
- 综合基因年龄约会与门德尔病表型化.
- 采用后勤回归建模来分析变量负担.
- 检查了基因年龄跨越的表型丰富,类型和选择性压力.
主要成果:
- 疾病基因比例随着基因年龄的增长而增加,这与更长的序列和更有害的de novo生殖系变体 (DNVs) 有关.
- 新基因以稳定的速度 (每百万年约0.07%) 整合到人类基因组中.
- 年轻基因富含男性生殖系统疾病 (性选择) 和诸如大脑大小和色彩视觉等特征.
结论:
- 年轻基因在性和自然选择下驱动人类生殖进化和表型创新.
- 一种"多变性障碍"模型表明,由于多变性较低,年轻基因具有更高的创新潜力.
- 年轻基因的低类变异性为快速适应提供了选择性优势.
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