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


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.

DOI: 10.1016/j.cub.2016.10.041

Cite this paper

@article{Gittelman2016ArchaicHA, title={Archaic Hominin Admixture Facilitated Adaptation to Out-of-Africa Environments.}, author={Rachel M Gittelman and Joshua G. Schraiber and Benjamin Vernot and Carmen Mikacenic and Mark M. Wurfel and Joshua M. Akey}, journal={Current biology : CB}, year={2016}, volume={26 24}, pages={3375-3382} }