Resurrecting surviving Neandertal lineages from modern human genomes

Benjamin Vernot, Joshua M. Akey

Research output: Contribution to journalArticlepeer-review

288 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1017-1021
Number of pages5
JournalScience
Volume343
Issue number6174
DOIs
StatePublished - Jan 1 2014
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • General

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