Defining the quantitative contribution of the melanocortin 1 receptor (MC1R) to variation in pigmentary phenotype

T. Ha, L. Naysmith, K. Waterston, C. Oh, R. Weller, J. L. Rees*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

The melanocortin 1 receptor (MC1R) is a key determinant of pigmentary phenotype. Several sequence variants of the MC1R have been described, many of which are associated with red hair and cutaneous sensitivity to ultraviolet radiation even in the absence of red hair. Red hair approximates to an autosomal recessive trait, and most people with red hair are compound heterozygote or homozygous for limited numbers of mutations that show impaired function in in vitro assays. There is a clear heterozygote effect on sun sensitivity (even in those without red hair) and with susceptibility to the most common forms of skin cancer.

Original languageEnglish
Pages (from-to)339-347
Number of pages9
JournalAnnals of the New York Academy of Sciences
Volume994
DOIs
Publication statusPublished - 1 Jan 2003

Keywords / Materials (for Non-textual outputs)

  • Eumelanin
  • Hair color
  • Melanin
  • Melanocortin 1 receptor
  • Pheomelanin
  • Pigmentation
  • Skin color

Fingerprint

Dive into the research topics of 'Defining the quantitative contribution of the melanocortin 1 receptor (MC1R) to variation in pigmentary phenotype'. Together they form a unique fingerprint.

Cite this