Abstract
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 language | English (US) |
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Pages (from-to) | 3375-3382 |
Number of pages | 8 |
Journal | Current Biology |
Volume | 26 |
Issue number | 24 |
DOIs | |
State | Published - Dec 19 2016 |
Externally published | Yes |
All Science Journal Classification (ASJC) codes
- General Biochemistry, Genetics and Molecular Biology
- General Agricultural and Biological Sciences
Keywords
- Denisovan
- Hybridization
- Neandertal
- adaptive
- admixture
- human evolution
- introgression