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Published Online October 25, 2007
Science DOI: 10.1126/science.1147417

Reports

Submitted on July 5, 2007
Accepted on October 12, 2007

A Melanocortin 1 Receptor Allele Suggests Varying Pigmentation Among Neanderthals

Carles Lalueza-Fox 1{dagger}*, Holger Römpler 2{dagger}, David Caramelli 3, Claudia Stäubert 4, Giulio Catalano 5, David Hughes 6, Nadin Rohland 6, Elena Pilli 3, Laura Longo 7, Silvana Condemi 8, Marco de la Rasilla 9, Javier Fortea 9, Antonio Rosas 10, Mark Stoneking 6, Torsten Schöneberg 4, Jaume Bertranpetit 11, Michael Hofreiter 6*

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

* To whom correspondence should be addressed.
Carles Lalueza-Fox , E-mail: clalueza{at}ub.edu
Michael Hofreiter , E-mail: hofreite{at}eva.mpg.de

{dagger}These authors contributed equally to this work.

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 primarily of European origin. We amplified and sequenced a fragment of the MC1R gene (mc1r) from two Neanderthal remains. Both specimens have a mutation not found in ~3,700 modern humans. 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 to the scale observed in modern humans. Our data suggest that inactive MC1R variants evolved independently in both modern humans and Neanderthals.


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Science. ISSN 0036-8075 (print), 1095-9203 (online)