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减少生殖成功与人类基因的选择性约束有关
Eugene J Gardner1,2, Matthew D C Neville1, Kaitlin E Samocha1
1Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, Hinxton, UK.
Nature
|March 24, 2022
概括
损害关键基因的遗传变异会减少生殖成功,主要是通过无子女,特别是在男性中. 这一发现有助于解释进化的遗传选择压力.
科学领域:
- 进化遗传学
- 人群遗传学
背景情况:
- 全基因组测序揭示了基因变异的净化选择强度的变化.
- 强烈选择性约束下的基因与孟德尔疾病有关,但大多数的选择机制仍然未知.
研究的目的:
- 研究纯化选择对与孟德尔疾病无关的基因的作用.
- 要确定这些基因受损的遗传变异是否会影响生殖成功.
主要方法:
- 对人类群体全基因组测序数据的分析.
- 关联研究将遗传变异与生殖结果和特征联系起来.
主要成果:
- 损害特定基因的遗传变异与生殖成功显著降低有关.
- 这种减少主要是由于无子女率增加,男性的效果更强.
- 认知和行为特征可能会调解遗传变异和男性无子女之间的关联.
结论:
- 减少生殖成功,特别是无子女,有助于净化对蛋白质编码基因的选择.
- 这种遗传效应虽然与社会人口学因素相比较小,但可能会影响长期的基因进化.
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