A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals

被引：192

作者：

Lalueza-Fox, Carles ^{[1
]}

Roempler, Holger

Caramelli, David

Staubert, Claudia

Catalano, Giulio

Hughes, David

Rohland, Nadin

Pilli, Elena

Longo, Laura

Condemi, Silvana

de la Rasilla, Marco

Fortea, Javier

Rosas, Antonio

Stoneking, Mark

Schoeneberg, Torsten

Bertranpetit, Jaume

Hofreiter, Michael

机构：

[1] Univ Barcelona, Dept Biol Anim, E-08007 Barcelona, Spain

[2] Univ Leipzig, Fac Med, Dept Mol Biochem, D-7010 Leipzig, Germany

[3] Univ Florence, Dept Anim Biol & Genet, Lab Anthropol, I-50121 Florence, Italy

[4] Univ Pompeu Fabra, Unitat Biol Evolut, Barcelona, Spain

[5] Univ Siena, Dipartimento Sci Ambientali, I-53100 Siena, Italy

[6] CNRS, UMR 6578, Unite Anthropol, Marseille, France

[7] Univ Oviedo, Area Prehist, Oviedo, Spain

[8] CSIC, Museo Nacl Ciencias Nat, E-28006 Madrid, Spain

[9] Max Planck Inst Evolutionary Anthropol, Dept Evolutionary Genet, Leipzig, Germany

[10] Harvard Univ, Dept Organism & Evolutionary Biol, Cambridge, MA 02138 USA

来源：

SCIENCE | 2007年 / 318卷 / 5855期

关键词：

D O I：

10.1126/science.1147417

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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 similar to 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.

引用

页码：1453 / 1455

页数：3

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