Genetic Association and Cellular Function of MC1R Variant Alleles in Human Pigmentation

@article{Sturm2003GeneticAA,
  title={Genetic Association and Cellular Function of MC1R Variant Alleles in Human Pigmentation},
  author={Richard A. Sturm and David L. Duffy and Neil Box and Richard A. Newton and Alistair G. Shepherd and W Chen and L H Marks and J. Helen Leonard and Nicholas G. Martin},
  journal={Annals of the New York Academy of Sciences},
  year={2003},
  volume={994}
}
Abstract: We have examined MC1R variant allele frequencies in the general population of South East Queensland and in a collection of adolescent dizygotic and monozygotic twins and family members to define statistical associations with hair and skin color, freckling, and mole count. Results of these studies are consistent with a linear recessive allelic model with multiplicative penetrance in the inheritance of red hair. Four alleles, D84E, R151C, R160W, and D294H, are strongly associated with… 
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TLDR
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TLDR
Using immunofluorescence and ligand binding studies, it is found that melanocytic cells exogenously or endogenously expressing MC1R show strong surface localization of the wild-type and D294H alleles but markedly reduced cell surface expression of the R151C and R160W receptors.
Association of five SNPs with human hair colour in the Polish population
TLDR
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Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients
TLDR
The functional characterization of six MC1R alleles found in Spanish melanoma patients is reported, finding that LOF of MC1r alleles is frequently associated with aberrant forward trafficking and accumulation within the ER or with inability to bind properly the activatory ligand.
Association of five SNPs with human hair colour in the Polish population.
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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