A melanocortin 1 receptor allele suggests varying pigmentation among neanderthals

Carles Lalueza-Fox (1) , Holger Römpler (2, 3) , David Caramelli (4) , Claudia Stäubert (2) , Giulio Catalano (4, 5) , David Hughes (6) , Nadin Rohland (6) , Ellena Pilli (4) , Laura Longo (7) , Silvana Condemi (8) , Marco de La Rasilla (9) , Javier Fortea (9) , Antonio Rosas (10) , Mark Stoneking (6) , Torsten Schöneberg (2) , Jaume Bertranpetit (5) , Michael Hofreiter (6)

1 Departament de biologia animal
2 Department of Molecular Biochemistry
3 OEB - Department of Organismic and Evolutionary Biology [Cambridge]
4 Department of Animal Biology and Genetics
5 Unitat de Biologia Evolutiva
6 Department of Evolutianory Genetics
7 Dipartimento di Scienze Ambientali
8 UAABC - Anthropologie Bio-Culturelle
9 Area de Prehistoria
10 Departamento de Paleobiologia

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 of primarily European origin. We amplified and sequenced a fragment of the MC1R gene (mc1r) from two Neanderthal remains. Both specimens have a mutation that was not found in ~3700 modern humans analyzed. 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 on the scale observed in modern humans. Our data suggest that inactive MC1R variants evolved independently in both modern humans and Neanderthals.

Mots clés: Pigmentation; neanderthals; melanocortin 1 receptor (MC1R)

Domaines: Anthropologie biologique

Carles Lalueza-Fox, Holger Römpler, David Caramelli, Claudia Stäubert, Giulio Catalano, et al.. A melanocortin 1 receptor allele suggests varying pigmentation among neanderthals. 2007, ⟨10.1126/science.1147417⟩. ⟨halshs-00305688⟩