Amos William
Department of Zoology, Downing Street, Cambridge CB2 3EJ, UK.
R Soc Open Sci. 2020 Jul 1;7(7):191900. doi: 10.1098/rsos.191900. eCollection 2020 Jul.
Non-African humans appear to carry a few per cent archaic DNA due to ancient inter-breeding. This modest legacy and its likely recent timing imply that most introgressed fragments will be rare and hence will occur mainly in the heterozygous state. I tested this prediction by calculating D statistics, a measure of legacy size, for pairs of humans where one of the pair was conditioned always to be either homozygous or heterozygous. Using coalescent simulations, I confirmed that conditioning the non-African to be heterozygous increased D, while conditioning the non-African to be homozygous reduced D to zero. Repeating with real data reveals the exact opposite pattern. In African-non-African comparisons, D is near-zero if the African individual is held homozygous. Conditioning one of two Africans to be either homozygous or heterozygous invariably generates large values of D, even when both individuals are drawn from the same population. Invariably, the African with more heterozygous sites (conditioned heterozygous > unconditioned > conditioned homozygous) appears less related to the archaic. By contrast, the same analysis applied to pairs of non-Africans always yields near-zero D, showing that conditioning does not create large D without an underlying signal to expose. Large D values in humans are therefore driven almost entirely by heterozygous sites in Africans acting to increase divergence from related taxa such as Neanderthals. In comparison with heterozygous Africans, individuals that lack African heterozygous sites, whether non-African or conditioned homozygous African, always appear more similar to archaic outgroups, a signal previously interpreted as evidence for introgression. I hope these analyses will encourage others to consider increased divergence as well as increased similarity to archaics as mechanisms capable of driving asymmetrical base-sharing.
由于古代的杂交,非非洲人类似乎携带了百分之几的古老DNA。这种适度的遗传以及其可能较近的时间意味着,大多数渗入片段将是罕见的,因此将主要以杂合状态出现。我通过计算D统计量(一种衡量遗传大小的指标)来检验这一预测,对于一对人类,其中一个总是被设定为纯合或杂合状态。通过合并模拟,我证实设定非非洲人为杂合会增加D,而设定非非洲人为纯合会将D降至零。用实际数据重复这一过程却揭示了完全相反的模式。在非洲人与非非洲人的比较中,如果非洲个体为纯合,D接近零。将两个非洲人中的一个设定为纯合或杂合总是会产生较大的D值,即使两个人来自同一群体。总是,具有更多杂合位点的非洲人(设定为杂合>未设定>设定为纯合)与古老群体的亲缘关系似乎更小。相比之下,对非非洲人对进行同样的分析总是产生接近零的D,表明如果没有潜在信号可揭示,设定并不会产生大的D值。因此,人类中的大D值几乎完全由非洲人的杂合位点驱动,这些位点会增加与诸如尼安德特人等相关类群的差异。与杂合的非洲人相比,缺乏非洲杂合位点的个体,无论是非非洲人还是设定为纯合的非洲人,总是显得与古老的外群更相似,这一信号之前被解释为渗入的证据。我希望这些分析将鼓励其他人将增加的差异以及与古老群体增加的相似性视为能够驱动不对称碱基共享的机制。