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Author(s):
Michael Dannemann, Janet Kelso
Publish date:
5 October 2017
Journal:
American Journal of Human Genetics
PubMed ID:
28985494

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.

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The project aims to understand the extent to which specific phenotypes are affected by Neandertal ancestry and to identify the genetic variants that affect these…

Institution:
Harvard Medical School, United States of America

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