Archaic Hominin Admixture Facilitated Adaptation to Out-of-Africa Environments

Rachel M. Gittelman, Joshua G. Schraiber, Benjamin Vernot, Carmen Mikacenic, Mark M. Wurfel, Joshua M. Akey

Research output: Contribution to journalArticlepeer-review

110 Scopus citations


As modern humans dispersed from Africa throughout the world, they encountered and interbred with archaic hominins, including Neanderthals and Denisovans [1, 2]. Although genome-scale maps of introgressed sequences have been constructed [3–6], considerable gaps in knowledge remain about the functional, phenotypic, and evolutionary significance of archaic hominin DNA that persists in present-day individuals. Here, we describe a comprehensive set of analyses that identified 126 high-frequency archaic haplotypes as putative targets of adaptive introgression in geographically diverse populations. These loci are enriched for immune-related genes (such as OAS1/2/3, TLR1/6/10, and TNFAIP3) and also encompass genes (including OCA2 and BNC2) that influence skin pigmentation phenotypes. Furthermore, we leveraged existing and novel large-scale gene expression datasets to show many positively selected archaic haplotypes act as expression quantitative trait loci (eQTLs), suggesting that modulation of transcript abundance was a common mechanism facilitating adaptive introgression. Our results demonstrate that hybridization between modern and archaic hominins provided an important reservoir of advantageous alleles that enabled adaptation to out-of-Africa environments.

Original languageEnglish (US)
Pages (from-to)3375-3382
Number of pages8
JournalCurrent Biology
Issue number24
StatePublished - Dec 19 2016
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • General Biochemistry, Genetics and Molecular Biology
  • General Agricultural and Biological Sciences


  • Denisovan
  • Hybridization
  • Neandertal
  • adaptive
  • admixture
  • human evolution
  • introgression


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