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The Human Melanocortin-1 Receptor

  • Eugene Healy
  • Mark Birch-Machin
  • Jonathan L. Rees
Chapter
Part of the The Receptors book series (REC)

Abstract

One of the more obvious features that distinguishes one human from another are the pigmentatory characteristics (including skin type, hair and eye color) of the individual. Although it had been suspected (as a result of investigations into murine coat color) that several genes were likely to be involved in human pigmentation, and, although it had been known for some time that proopiomelanocortin (POMC) peptides such as alpha-melanocyte stimulating hormone (α-MSH) and adrenocorticotropic hormone (ACTH) can alter cutaneous pigmentation, it has only been during the past 10 years that molecular biologic/ genetic approaches have offered some insight into the complexities of human pigmentation (1–3). The detection of mutations within the genes responsible for type I and type II oculocutaneous albinism and piebaldism provided evidence for genotypic/phenotypic relationships in a subset of individuals with pigmentatory disorders, but did little to explain the wide variability in the pigmentatory characteristics of the vast majority of individuals (4–6).However, a basis for understanding “normal” human pigmentation became possible with the initial cloning of the human melanocortin 1 receptor (MC1R) gene by three separate groups who isolated this gene on the basis of its similarity to other G protein-coupled receptors (7,8) , and the subsequent identification of variant alleles within the murine homolog of this gene (mc1r) which could differentially activate adenylyl cyclase and which were associated with various coat colors in mice (9).

Keywords

Melanoma Cell Skin Type Hair Color Human Melanocyte MC1R Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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© Springer Science+Business Media New York 2000

Authors and Affiliations

  • Eugene Healy
  • Mark Birch-Machin
  • Jonathan L. Rees

There are no affiliations available

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