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Am J Hum Genet. 2017 Oct 5;101(4):578-589. doi: 10.1016/j.ajhg.2017.09.010.

The Contribution of Neanderthals to Phenotypic Variation in Modern Humans.

Author information

1
Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig 04103, Germany.
2
Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig 04103, Germany. Electronic address: kelso@eva.mpg.de.

Abstract

Assessing the genetic contribution of Neanderthals to non-disease phenotypes in modern humans has been difficult because of the absence of large cohorts for which common phenotype information is available. Using baseline phenotypes collected for 112,000 individuals by the UK Biobank, we can now elaborate on previous findings that identified associations between signatures of positive selection on Neanderthal DNA and various modern human traits but not any specific phenotypic consequences. Here, we show that Neanderthal DNA affects skin tone and hair color, height, sleeping patterns, mood, and smoking status in present-day Europeans. Interestingly, multiple Neanderthal alleles at different loci contribute to skin and hair color in present-day Europeans, and these Neanderthal alleles contribute to both lighter and darker skin tones and hair color, suggesting that Neanderthals themselves were most likely variable in these traits.

KEYWORDS:

Neanderthal; UK Biobank; introgression phenotype

PMID:
28985494
PMCID:
PMC5630192
DOI:
10.1016/j.ajhg.2017.09.010
[Indexed for MEDLINE]
Free PMC Article

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