A Melanocortin 1 Receptor Allele Suggests Varying Pigmentation Among Neanderthals

@article{LaluezaFox2007AM1,
  title={A Melanocortin 1 Receptor Allele Suggests Varying Pigmentation Among Neanderthals},
  author={C. Lalueza-Fox and Holger R{\"o}mpler and D. Caramelli and Claudia St{\"a}ubert and G. Catalano and David A. Hughes and Nadin Rohland and E. Pilli and L. Longo and S. Condemi and M. de la Rasilla and J. Fortea and A. Rosas and M. Stoneking and T. Sch{\"o}neberg and J. Bertranpetit and M. Hofreiter},
  journal={Science},
  year={2007},
  volume={318},
  pages={1453 - 1455}
}
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… Expand
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