A Melanocortin 1 Receptor Allele Suggests Varying Pigmentation Among Neanderthals

• DOI: 10.1126/science.1147417
• Publication Date: 2007-10-25T23:37:06Z
• Authors: Carles Lalueza-Fox; Holger Römpler; David Caramelli; Claudia Stäubert; Giulio Catalano; David Hughes; Nadin Rohland; Elena Pilli; Laura Longo; Silvana Condemi; Marco de la Rasilla; Javier Fortea; Antonio Rosas; Mark Stoneking; Torsten Schöneberg; Jaume Bertranpetit; Michael Hofreiter
• Keywords: Melanocortin 1 receptor; Neanderthal

The melanocortin 1 receptor (MC1R) regulates pigmentation in humans and other vertebrates. Variants of MC1R with reduced function are associated pale skin color red hair primarily European origin. We amplified sequenced a fragment the gene ( mc1r ) from two Neanderthal remains. Both specimens have mutation that was not found ∼3700 modern analyzed. Functional analyses show this variant reduces activity to level alters and/or humans. impaired suggests Neanderthals varied levels, potentially on scale observed Our data suggest inactive variants evolved independently both Neanderthals.