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Originally published in Science Express on 25 October 2007
Science 30 November 2007:
Vol. 318. no. 5855, pp. 1453 - 1455
DOI: 10.1126/science.1147417
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A Melanocortin 1 Receptor Allele Suggests Varying Pigmentation Among Neanderthals

Carles Lalueza-Fox,1*{dagger} Holger Römpler,2,10* David Caramelli,3 Claudia Stäubert,2 Giulio Catalano,3,4 David Hughes,9 Nadin Rohland,9 Elena Pilli,3 Laura Longo,5 Silvana Condemi,6 Marco de la Rasilla,7 Javier Fortea,7 Antonio Rosas,8 Mark Stoneking,9 Torsten Schöneberg,2 Jaume Bertranpetit,4 Michael Hofreiter9{dagger}

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.

1 Departament de Biologia Animal, Universitat de Barcelona, Spain.
2 Department of Molecular Biochemistry, Medical Faculty, University of Leipzig, Leipzig, Germany.
3 Department of Animal Biology and Genetics, Laboratory of Anthropology, University of Florence, Italy.
4 Unitat de Biologia Evolutiva, Universitat Pompeu Fabra, Barcelona, Spain.
5 Dipartimento di Scienze Ambientali, Università di Siena, Siena, Italy.
6 Unité d'Anthropologie, CNRS, UMR 6578, Marseille, France.
7 Área de Prehistoria, Universidad de Oviedo, Spain.
8 Departamento de Paleobiología, Museo Nacional de Ciencias Naturales, CSIC, Madrid, Spain.
9 Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
10 Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA, USA.

* These authors contributed equally to this work.

{dagger} To whom correspondence should be addressed. E-mail: clalueza{at}ub.edu (C.L.-F.); hofreite{at}eva.mpg.de (M.H.)

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