Racimo Fernando, Sankararaman Sriram, Nielsen Rasmus, Huerta-Sánchez Emilia
Department of Integrative Biology, University of California, Berkeley, Berkeley, California 97420, USA.
Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.
Nat Rev Genet. 2015 Jun;16(6):359-71. doi: 10.1038/nrg3936. Epub 2015 May 12.
As modern and ancient DNA sequence data from diverse human populations accumulate, evidence is increasing in support of the existence of beneficial variants acquired from archaic humans that may have accelerated adaptation and improved survival in new environments - a process known as adaptive introgression. Within the past few years, a series of studies have identified genomic regions that show strong evidence for archaic adaptive introgression. Here, we provide an overview of the statistical methods developed to identify archaic introgressed fragments in the genome sequences of modern humans and to determine whether positive selection has acted on these fragments. We review recently reported examples of adaptive introgression, grouped by selection pressure, and consider the level of supporting evidence for each. Finally, we discuss challenges and recommendations for inferring selection on introgressed regions.
随着来自不同人类群体的现代和古代DNA序列数据不断积累,越来越多的证据支持这样一种观点,即从古代人类那里获得的有益变异可能加速了适应过程,并提高了在新环境中的生存能力——这一过程被称为适应性基因渗入。在过去几年里,一系列研究已经确定了基因组区域,这些区域显示出古代适应性基因渗入的有力证据。在这里,我们概述了为识别现代人类基因组序列中的古代渗入片段以及确定正向选择是否作用于这些片段而开发的统计方法。我们回顾了最近报道的适应性基因渗入的例子,并按选择压力进行分组,同时考虑每个例子的支持证据水平。最后,我们讨论了推断渗入区域选择情况时面临的挑战和建议。