A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals

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

    Research output: Contribution to journalArticle (Academic Journal)

    209 Citations (Scopus)

    Abstract

    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 approximately 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.

    Original languageEnglish
    Pages (from-to)1453-5
    Number of pages3
    JournalScience
    Volume318
    Issue number5855
    DOIs
    Publication statusPublished - 30 Nov 2007

    Keywords

    • Alleles
    • Amino Acid Substitution
    • Animals
    • Biological Evolution
    • Cell Line
    • DNA/genetics
    • Fossils
    • Hair Color/genetics
    • Hominidae/genetics
    • Humans
    • Molecular Sequence Data
    • Mutation
    • Polymerase Chain Reaction
    • Receptor, Melanocortin, Type 1/chemistry
    • Sequence Analysis, DNA
    • Skin Pigmentation/genetics

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