title: A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals.
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.
authors.affiliation: Departament de Biologia Animal, Universitat de Barcelona, Spain. clalueza@ub.edu
authors.forename: Carles
authors.initials: C
authors.lastname: Lalueza-Fox
authors.forename: Holger
authors.initials: H
authors.lastname: Römpler
authors.forename: David
authors.initials: D
authors.lastname: Caramelli
authors.forename: Claudia
authors.initials: C
authors.lastname: Stäubert
authors.forename: Giulio
authors.initials: G
authors.lastname: Catalano
authors.forename: David
authors.initials: D
authors.lastname: Hughes
authors.forename: Nadin
authors.initials: N
authors.lastname: Rohland
authors.forename: Elena
authors.initials: E
authors.lastname: Pilli
authors.forename: Laura
authors.initials: L
authors.lastname: Longo
authors.forename: Silvana
authors.initials: S
authors.lastname: Condemi
authors.forename: Marco
authors.initials: M
authors.lastname: de la Rasilla
authors.forename: Javier
authors.initials: J
authors.lastname: Fortea
authors.forename: Antonio
authors.initials: A
authors.lastname: Rosas
authors.forename: Mark
authors.initials: M
authors.lastname: Stoneking
authors.forename: Torsten
authors.initials: T
authors.lastname: Schöneberg
authors.forename: Jaume
authors.initials: J
authors.lastname: Bertranpetit
authors.forename: Michael
authors.initials: M
authors.lastname: Hofreiter
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D000818:Animals; D005075:Biological Evolution; D002460:Cell Line; D004247:DNA / Q000235:genetics; D005580:Fossils; D006200:Hair Color / Q000235:genetics*; D015186:Hominidae / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D044102:Receptor, Melanocortin, Type 1 / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D017422:Sequence Analysis, DNA; D012880:Skin Pigmentation / Q000235:genetics*
chemical_list: D044102:Receptor, Melanocortin, Type 1; D004247:DNA