| Title: | The Contribution of Neanderthals to Phenotypic Variation in Modern Humans |
| Journal: | American Journal of Human Genetics |
| Published: | 5 Oct 2017 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/28985494/ |
| DOI: | https://doi.org/10.1016/j.ajhg.2017.09.010 |
| URL: | https://europepmc.org/articles/pmc5630192?pdf=render |
| Citations: | 145 (29 in last 2 years) as of 8 Aug 2024 |
Publication 7295
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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.</p>
15 Keywords
- Animals
- Biological Evolution
- Cohort Studies
- Gene Frequency
- Genome, Human
- Hair Color
- Haplotypes
- Humans
- Linkage Disequilibrium
- Neanderthals
- Phenotype
- Phylogeny
- Polymorphism, Single Nucleotide
- Skin Pigmentation
- White People
2 Authors
- Michael Dannemann
- Janet Kelso
1 Application
| Application ID | Title |
|---|---|
| 12408 | Studying the impact of Neanderthal gene flow on human biology |
Enabling scientific discoveries that improve human health