Skin Pigmentation: Genetics

Jonathan L Rees, University of Edinburgh, Edinburgh, UK

Published online: January 2006

DOI: 10.1038/npg.els.0006035

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
    Barsh GS (1996) The genetics of pigmentation: from fancy genes to complex traits. Trends in Genetics 12: 299–305.
    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.
    book 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
    Jablonski NG and Chaplin G (2000) The evolution of human skin coloration. Journal of Human Evolution 39: 57–106.
    book King RA, Hearing VJ, Creel DJ and Oetting WS (2001) "Albinism". In: Scriver CR, Beaudet AL, Sly WS, et al. (eds.) The Metabolic and Molecular Bases of Inherited Disease, pp. 5587–5628. New York, NY: McGraw-Hill.
    book Nordlund JJ, Boissy RE, Hearing VJ, King RA and Ortonne JP (eds.) (1998) The Pigmentary System: Physiology and Pathophysiology. New York, NY: Oxford University Press.
    Rees JL (2000) The melanocortin 1 receptor (MC1R): more than just red hair. Pigment Cell Research 13: 135–140.
    Valverde P, Healy E, Jackson I, Rees JL and Thody AJ (1995) Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nature Genetics 11: 328–330.
 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
    ePath OMIM (Online Mendelian Inheritance in Man). A database cataloging human genes and genetic disorders http://www.ncbi.nlm.nih.gov/Omim/
    ePath Chediak-Higashi syndrome 1 (CHS1); Locus ID: 1130. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1130
    ePath Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) (MC1R); Locus ID: 4157. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4157
    ePath Oculocutaneous albinism II (pink-eye dilution homolog, mouse) (OCA2); Locus ID: 4948. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4948
    ePath Tyrosinase (oculocutaneous albinism IA) (TYR); Locus ID: 7299. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7299
    ePath Tyrosinase-related protein 1 (TYRP1); Locus ID: 7306. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7306
    ePath Chediak-Higashi syndrome 1 (CHS1); MIM number: 606897. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?606897
    ePath Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) (MC1R); MIM number: 155555. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?155555
    ePath Oculocutaneous albinism II (pink-eye dilution homolog, mouse) (OCA2); MIM number: 203200. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?203200
    ePath Tyrosinase (oculocutaneous albinism IA) (TYR); MIM number: 606933. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?606933
    ePath Tyrosinase-related protein 1 (TYRP1); MIM number: 115501. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?115501

Related Sub-Topics:

Genes, Molecules and Cellular Processes | Human Evolution | Population Structure and Genetics | Molecular Genetics of Common and Complex Disease | Specific Genetic Disorders | Mutational Mechanisms of Genetic Disease | Gene and Genome Structure and Organisation
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Article Title: Skin Pigmentation: Genetics
 
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]