Resurrecting surviving Neandertal lineages from modern human genomes.
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.
Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Benjamin
B
Vernot
Joshua M
JM
Akey
D000818:Animals; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D006824:Hybridization, Genetic; D007198:Indians, North American / Q000235:genetics; D059125:Neanderthals / Q000235:genetics*; D017422:Sequence Analysis, DNA