The importance of gene flow in human evolution

Alan R. Templeton
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Abstract

By the latter half of the 20th century, there were three dominant models of human evolution. All three accepted an African origin of humans at the Homo erectus stage, with H. erectus expanding out of Africa and colonizing Eurasia near the beginning of the Pleistocene. The candelabra model had H. erectus splitting into mostly isolated geographical lineages that independently evolved into the modern African, European and Asian “races”. The out-of-Africa replacement model starts out like the candelabra model, but then posits that Homo sapiens first evolved in Africa and then expanded out of Africa in the late Pleistocene and replaced all of the archaic Eurasian populations without interbreeding with them. Neither of these models assign an important role to gene flow (genetic interchange). In contrast, the multiregional model regarded the human populations in Africa and Eurasia as experiencing gene flow throughout the Pleistocene and evolving as a single human lineage with some local differentiation. Studies on mitochondrial DNA in the 1980’s claimed to support the out-of-Africa replacement model and to falsify both the candelabra and multiregional models by mistakenly equating the two. In fact, the mitochondrial DNA studies were fully compatible with both the replacement and multiregional models. The first statistically significant discrimination between these two models appeared in 2002 and revealed a hybrid model in which there was a mid-Pleistocene and a late Pleistocene expansion of humans out of Africa that resulted in limited genetic interchange with Eurasians rather than complete replacement. Moreover, significant gene flow and population movements led to genetic interchange throughout the mid-Pleistocene to the present. Studies on genomic data and ancient DNA have strongly confirmed these inferences. Moreover, our modern species of humans was forged in an African multiregional metapopulation rather than arising from one local area of Africa. Thus, gene flow has played a dominant role in human evolution since the mid-Pleistocene whereas splits and isolation have not. This undercuts the idea that human races are biologically real categories or separate branches on an evolutionary tree.
基因流在人类进化中的重要性
到20世纪下半叶,有三种主要的人类进化模式。三人都认为直立人阶段的人类起源于非洲,直立人在更新世开始时从非洲扩展到欧亚大陆。烛台模型认为直立人分裂成几乎孤立的地理谱系,这些谱系独立地进化成现代非洲、欧洲和亚洲的“种族”。走出非洲的替代模型开始类似于烛台模型,但随后假设智人首先在非洲进化,然后在更新世晚期扩展出非洲,取代了所有古老的欧亚种群,而没有与他们杂交。这两种模型都不认为基因流动(基因交换)起重要作用。相比之下,多区域模型认为非洲和欧亚大陆的人类种群经历了整个更新世的基因流动,并作为一个单一的人类谱系进化,并存在一些局部差异。20世纪80年代对线粒体DNA的研究声称支持非洲以外的替代模型,并错误地将烛台模型和多区域模型等同起来,从而伪造了两者。事实上,线粒体DNA研究与替代模型和多区域模型完全兼容。这两种模型之间的第一次统计学上的显著区别出现在2002年,揭示了一个混合模型,其中有一个中更新世和晚更新世人类从非洲扩张,导致与欧亚人有限的基因交换,而不是完全取代。此外,从更新世中期到现在,大量的基因流动和种群迁移导致了遗传交换。对基因组数据和古代DNA的研究有力地证实了这些推论。此外,我们的现代人类物种是在非洲多地区的元人口中形成的,而不是起源于非洲的一个地区。因此,自更新世中期以来,基因流动在人类进化中发挥了主导作用,而分裂和隔离则没有。这削弱了人类种族是生物学上真实的类别或进化树上独立分支的观点。
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