Skin Pigmentation: Genetics

Abstract

Differences in skin pigmentation are principally due to variation in the amount and type of melanin produced in cutaneous melanocytes. In humans, a large number of Mendelian disorders of pigmentation, including albinism, are now understood at a genetic level. Only one locus, the melanocortin 1 receptor, has been so far identified to contribute to normal variation in skin and hair color, but it is clear that many other loci (yet to be determined) must also play a role.

Keywords: pigmentation; skin color; hair color; albinism; melanin

References

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Cone RD, Lu D, Koppula S, et al. (1996) The melanocortin receptors: agonists, antagonists, and the hormonal control of pigmentation. Recent Progress in Hormone Research 51: 287–317.

Harding RM, Healy E, Ray AJ, et al. (2000) Evidence for variable selective pressures at the human pigmentation locus, MC1R. American Journal of Human Genetics 66: 1351–1361.

Ito S (1998) Advances in chemical analysis of melanins. In: Nordlund JJ, Boissy RE, Hearing VJ, KIng RA and Ortone JP (eds.) The Pigmentary System: Physiology and Pathophysiology, pp. 439–450. New York, NY: Oxford University Press

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Further Reading

Sturm RA, Box NF and Ramsay M (1998) Human pigmentation genetics: the difference is only skin deep. BioEssays 20: 712–721.

Web Links

OMIM (Online Mendelian Inheritance in Man). A database cataloging human genes and genetic disorders http://www.ncbi.nlm.nih.gov/Omim/

Chediak‐Higashi syndrome 1 (CHS1); Locus ID: 1130. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1130

Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) (MC1R); Locus ID: 4157. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4157

Oculocutaneous albinism II (pink‐eye dilution homolog, mouse) (OCA2); Locus ID: 4948. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4948

Tyrosinase (oculocutaneous albinism IA) (TYR); Locus ID: 7299. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7299

Tyrosinase‐related protein 1 (TYRP1); Locus ID: 7306. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7306

Chediak‐Higashi syndrome 1 (CHS1); MIM number: 606897. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?606897

Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) (MC1R); MIM number: 155555. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?155555

Oculocutaneous albinism II (pink‐eye dilution homolog, mouse) (OCA2); MIM number: 203200. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?203200

Tyrosinase (oculocutaneous albinism IA) (TYR); MIM number: 606933. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?606933

Tyrosinase‐related protein 1 (TYRP1); MIM number: 115501. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?115501

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How to Cite close
Rees, Jonathan L(Jan 2006) Skin Pigmentation: Genetics. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0006035]