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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Explaining worldwide patterns of human genetic variation using a coalescent-based serial founder model of migration outward from Africa
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Explaining worldwide patterns of human genetic variation using a coalescent-based serial founder model of migration outward from Africa

机译：使用基于结盟的从非洲向外迁徙的系列创始人模式解释人类遗传变异的全球模式

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摘要

Studies of worldwide human variation have discovered three trends in summary statistics as a function of increasing geographic distance from East Africa: a decrease in heterozygosity, an increase in linkage disequilibrium (LD), and a decrease in the slope of the ancestral allele frequency spectrum. Forward simulations of unlinked loci have shown that the decline in heterozygosity can be described by a serial founder model, in which populations migrate outward from Africa through a process where each of a series of populations is formed from a subset of the previous population in the outward expansion. Here, we extend this approach by developing a retrospective coalescent-based serial founder model that incorporates linked loci. Our model both recovers the observed decline in heterozygosity with increasing distance from Africa and produces the patterns observed in LD and the ancestral allele frequency spectrum. Surprisingly, although migration between neighboring populations and limited admixture between modern and archaic humans can be accommodated in the model while continuing to explain the three trends, a competing model in which a wave of outward modern human migration expands into a series of preexisting archaic populations produces nearly opposite patterns to those observed in the data. We conclude by developing a simpler model to illustrate that the feature that permits the serial founder model but not the archaic persistence model to explain the three trends observed with increasing distance from Africa is its incorporation of a cumulative effect of genetic drift as humans colonized the world.
机译：全世界人类变异的研究发现，随着距东非地理距离的增加，摘要统计的三个趋势是：杂合性的降低，连锁不平衡（LD）的增加以及祖先等位基因频谱斜率的降低。未链接基因座的正向模拟表明，杂合性的下降可以通过串行创始人模型来描述，在该模型中，种群通过一系列从先前种群的子集向外形成的过程从非洲向外迁移扩张。在这里，我们通过开发结合链接的基因座的回顾性基于联盟的串行创始人模型来扩展此方法。我们的模型既恢复了观察到的杂合度随与非洲的距离增加而下降的趋势，又产生了在LD和祖先等位基因频谱中观察到的模式。令人惊讶的是，尽管在继续解释这三种趋势的同时，可以在模型中容纳相邻人群之间的迁徙和现代人与古人类之间的有限混合，但竞争模型中，向外现代人的迁徙浪潮扩展为一系列先前存在的古人口与数据中观察到的模式几乎相反。我们通过开发一个更简单的模型来说明这一点，该模型说明了允许串行创始人模型而不是古老的持久性模型来解释随着距非洲越来越远而观察到的三个趋势的功能是它整合了人类在世界上殖民时的遗传漂移累积效应。

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