Eco-anthropologie (EA), Muséum National d'Histoire Naturelle, CNRS, Université Paris Cité, 75016 Paris, France.
IRD, MERIT, Université Paris Cité, 75006 Paris, France.
Mol Biol Evol. 2024 Jun 1;41(6). doi: 10.1093/molbev/msae094.
Human populations harbor a high concentration of deleterious genetic variants. Here, we tested the hypothesis that non-random mating practices affect the distribution of these variants, through exposure in the homozygous state, leading to their purging from the population gene pool. To do so, we produced whole-genome sequencing data for two pairs of Asian populations exhibiting different alliance rules and rates of inbreeding, but with similar effective population sizes. The results show that populations with higher rates of inbred matings do not purge deleterious variants more efficiently. Purging therefore has a low efficiency in human populations, and different mating practices lead to a similar mutational load.
人类群体中存在大量有害的遗传变异。在这里,我们通过检测纯合状态下的暴露,测试了非随机交配实践是否会影响这些变异的分布,从而导致它们从群体基因库中被清除。为此,我们为两个表现出不同联姻规则和近亲交配率的亚洲人群对产生了全基因组测序数据,但它们的有效种群大小相似。结果表明,近亲交配率较高的人群并不能更有效地清除有害变异。因此,清除在人类群体中的效率较低,而不同的交配实践会导致相似的突变负荷。