Resurrecting surviving Neandertal lineages from modern human genomes.

Bibliographic Collection: 
APE, MOCA Reference
Publication Type: Journal Article
Authors: Vernot, Benjamin; Akey, Joshua M
Year of Publication: 2014
Journal: Science
Volume: 343
Issue: 6174
Pagination: 1017-21
Date Published: 2014 Feb 28
Publication Language: eng
ISSN: 1095-9203
Keywords: Animals, Genetic Variation, Genome, Human, Humans, Hybridization, Genetic, Indians, North American, Neanderthals, Sequence Analysis, DNA

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.

DOI: 10.1126/science.1245938
Alternate Journal: Science
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