Resurrecting Surviving Neandertal Lineages from Modern Human Genomes

作者：Benjamin Vernot, Joshua M. Akey · 发表于：Science · 年份：2014 · DOI：10.1126/science.1245938 · 被引用次数：629 · 研究领域：Forensic and Genetic Research、Forensic Anthropology and Bioarchaeology Studies、Pleistocene-Era Hominins and Archaeology

Anatomically modern humans overlapped and mated with Neandertals such that non-African humans inherit ~1 to 3% of their genomes from Neandertal ancestors. We identified Neandertal lineages that persist in the DNA of modern humans, in whole-genome sequences from 379 European and 286 East Asian individuals, recovering more than 15 gigabases of introgressed sequence that spans ~20% of the Neandertal genome (false discovery rate = 5%). Analyses of surviving archaic lineages suggest that there were fitness costs to hybridization, admixture occurred both before and after divergence of non-African modern humans, and Neandertals were a source of adaptive variation for loci involved in skin phenotypes. Our results provide a new avenue for paleogenomics studies, allowing substantial amounts of population-level DNA sequence information to be obtained from extinct groups, even in the absence of fossilized remains.