A Melanocortin 1 Receptor Allele Suggests Varying Pigmentation Among Neanderthals

@article{LaluezaFox2007AM1,
  title={A Melanocortin 1 Receptor Allele Suggests Varying Pigmentation Among Neanderthals},
  author={Carles Lalueza-Fox and Holger R{\"o}mpler and David Caramelli and Claudia St{\"a}ubert and Giulio Catalano and David A. Hughes and Nadin Rohland and Elena Pilli and Laura Longo and Silvana Condemi and Marco de la Rasilla and Javier Fortea and Antonio Rosas and Mark Stoneking and Torsten Sch{\"o}neberg and Jaume Bertranpetit and Michael 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… 

Neanderthal man’s MC1R plays fair

  • E. Healy
  • Biology
    Pigment cell & melanoma research
  • 2008
There is substantial and accumulating evidence that convergent (or parallel) genetic evolution, involving the acquisition of alterations in identical genes, has played an important role in the development of similar pigmentary phenotypes across species.

The Contribution of Neanderthals to Phenotypic Variation in Modern Humans

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The current genetic architecture implicated in human skin pigmentation is reported and it is concluded that this complex trait is strived to a bright future.

Monogenic pigmentary skin disorders: genetics and pathophysiology.

The present review discusses normal skin pigmentation and the genetic underpinning of selected disorders of hypo- and hyperpigmentation.

The Evolutionary History of Human Skin Pigmentation

The genetic basis of skin color is less simple than previously thought and that geographic variation in skin pigmentation was influenced by the concerted action of different types of natural selection, rather than just by selective sweeps in a few key genes.

Neanderthal origin of the haplotypes carrying the functional variant Val92Met in the MC1R in modern humans.

Evidence of Neanderthal introgression encompassing the melanocyte-stimulating hormone receptor gene MC1R is presented and it is speculated that the Neanderthal Introgression may have played an important role in the local adaptation of Eurasians to sunlight intensity.

Global Patterns of Diversity and Selection in Human Tyrosinase Gene

A global study of the human tyrosinase gene, which is one of the key enzymes in melanin production, is reported to assess the role of its variation in the evolution of skin pigmentation differences among human populations and observes a higher rate of non-synonymous polymorphisms in the European sample consistent with the relaxation of selective constraints.

Dorsal Pigmentation and Its Association with Functional Variation in MC1R in a Lizard from Different Elevations on the Qinghai–Tibetan Plateau

Variation in the degree of melanism that can be explained by four or fewer MC1R substitutions is identified and a functional link between these substitutions and melanin synthesis is established and elevation-associated shifts in their frequencies are established.

Polymorphisms upstream of the melanocortin‐1 receptor coding region are associated with human pigmentation variation in a Brazilian population

We describe an association of two SNPs, rs3212345:C>T and rs3212346:G>A, located approximately 2.5 kb upstream of the melanocortin‐1 receptor (MC1R) translation initiation codon, with pigmentation
...

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