Razib beat me the the punch on the new news that some Neandertals had red hair. He’s managed to write a very thorough and informative post over at Gene Expression. Check it out. Paul Rincon, a reporter for the BBC also has news of this, here.
This is a very curious finding and the entire study will be published in Science by tomorrow. Here’s an inactive link to the publication. It should start working once Science decides its time. All I have to share with you is the following excerpt, plucked from Razib’s post,
“The melanocortin 1 receptor (MC1R) regulates pigmentation in humans and other vertebrates. Variants of MC1R with reduced function are associated with pale skin color and red hair in humans primarily of European origin. We amplified and sequenced a fragment of the MC1R gene (mc1r) from two Neanderthal remains. Both specimens have a mutation not found in ~3700 modern humans. Functional analyses show that this variant reduces MC1R activity to a level that alters hair and/or skin pigmentation in humans. The impaired activity of this variant suggests that Neanderthals varied in pigmentation levels, potentially to the scale observed in modern humans. Our data suggest that inactive MC1R variants evolved independently in both modern humans and Neanderthals.”
Based upon Razib’s discussion on the author’s unique discovery a of non-synonymous substitution in the Neandertal MC1R of an A to a G which encodes the amino acid Arginine instead of Glyceine…. A SNP not found easily found in modern humans, I decided to look up what SNPs are known for modern humans’ MC1R. Currently, about 153 SNPS are known for modern humans’ MC1R. I haven’t bothered to translate all 153 sequences to see which ones show up an arginine where a glyceine was, but I’m pretty sure the authors did that, and screened their Neandertal specific SNP to this public data, before they published their paper.
This unique SNP reduces expression of the protein which MC1R produced, and a loss of function on MC1R, which results in fair skin and red hair. The really strange thing is that, like I said, this SNP ain’t found easily in modern humans. But in the two Neandertal samples they found, from Spain and Italy, this SNP was present.
A related curiosity is how this publication comes a week after the findings with FOXP2. One of the lead authors of the Neandertal FOXP2 paper is Carles Lalueza-Fox, is first author of the red haired Neandertal paper. It is somewhat remarkable how the FOXP2 paper got published in Current Biology, while very similar, related study from at least one of the same authors gets published in Science. Some, like myself, consider a study on hair color to be way less impacting than a study on the evolution of a language associated transcription factor. Anyways, not a very astute observation… who really knows why Science went the superficial route.