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 ∼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.
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We thank C. Green for many suggestions and critical reading of the manuscript; S. Ptak for help with the statistical analysis; and the Ministry of Education and Science of Spain and the Generalitat de Catalunya (C.L.F. and J.B.), the Max Planck Society (D.H., N.R., M.S., and M.H.), the Deutsche Forschungsgemeinschaft, Bundesministerium für Bildung und Forschung, the IZKF Leipzig (H.R., C.S., and T.S.), and the Studienstiftung des Deutschen Volkes (C.S.) for financial support. The excavation at El Sidrón is supported by the Autonomous Government of Asturias. The study of the Monti Lessini Neanderthal is framed into a research project on human fossil remains at the Verona Natural History Museum. The Neanderthal mc1r sequence has been deposited at GenBank, accession number EU204643.
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Science
Volume 318 | Issue 5855
30 November 2007
30 November 2007
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American Association for the Advancement of Science.
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Received: 5 July 2007
Accepted: 12 October 2007
Published in print: 30 November 2007
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