Variants of the melanocyte–stimulating hormone receptor gene are associated with red hair and fair skin in humans

@article{Valverde1995VariantsOT,
  title={Variants of the melanocyte–stimulating hormone receptor gene are associated with red hair and fair skin in humans},
  author={Paloma Valverde and Eugene Healy and Ian J. Jackson and Jonathan Rees and Anthony J. Thody},
  journal={Nature Genetics},
  year={1995},
  volume={11},
  pages={328-330}
}
Melanin pigmentation protects the skin from the damaging effects of ultraviolet radiation (UVR). There are two types of melanin, the red phaeome-lanin and the black eumelanin, both of which are present in human skin1. Eumelanin is photoprotective whereas phaeomelanin, because of its potential to generate free radicals in response to UVR2, may contribute to UV-induced skin damage. Individuals with red hair have a predominance of phaeomelain in hair and skin and/or a reduced ability to produce… 
The Melanocortin 1 Receptor and the UV Response of Human Melanocytes—A Shift in Paradigm †
TLDR
Designing potent melanocortin analogs that mimic the effects of α‐MSH as a strategy to prevent skin cancer, particularly in individuals who express MC1R genotypes that reduce but do not abolishMC1R function, or mutations in other melanoma susceptibility genes, such as p16.
Human melanocortin 1 receptor variants, receptor function and melanocyte response to UV radiation.
TLDR
It is concluded that loss-of-function mutations in the MC1R gene sensitize human melanocytes to the DNA damaging effects of UV radiation, which may increase skin cancer risk.
Rapid genotyping of melanocortin-1 receptor with use of fluorescence-labeled oligonucleotides.
TLDR
The melanocortin-1 receptor (MC1R), localized on chromosome 16q24.3, is a G-protein-coupled receptor expressed mostly in melanocytes that may contribute to ultraviolet (UV) radiation-induced skin damage by favoring the synthesis of eumelanin.
Participation of the melanocortin-1 receptor in the UV control of pigmentation.
TLDR
The cloning of the MC1R gene from human melanocytes and the demonstration that these cells respond to the melanocortins alpha-melanocyte stimulating hormone and adrenocorticotropic hormone with increased proliferation and melanogenesis have renewed the interest in investigation the physiological role of these hormones in regulating human pigmentation.
The melanocortin-1 receptor: red hair and beyond.
TLDR
The increasing evidence that loss-of-function MC1-R mutations largely account for the red hair phenotype in humans and also have a strong association with fair skin and a decreased ability to tan is reviewed, with a significant heterozygote effect in individuals without red hair.
Red Hair, Light Skin, and UV-Independent Risk for Melanoma Development in Humans.
TLDR
A key gene which regulates pigmentation in humans is the Melanocortin-1-Receptor, that encodes a seven transmembrane G-protein coupled receptor which regulates cAMP levels in melanocytes, that plausibly provided an evolutionary selective advantage in preventing lethal vitamin D deficiency at high latitude geographic locations.
Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair.
TLDR
The results provide important pharmacological characterization of common MC1 receptor variants in various world populations and their ability to bind alpha-melanocyte stimulating hormone (MSH) peptides and increase intracellular cAMP.
Melanocortin MC₁ receptor in human genetics and model systems.
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TLDR
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TLDR
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