Skin Pigmentation: Genetics


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


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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

Chediak‐Higashi syndrome 1 (CHS1); Locus ID: 1130. LocusLink:

Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) (MC1R); Locus ID: 4157. LocusLink:

Oculocutaneous albinism II (pink‐eye dilution homolog, mouse) (OCA2); Locus ID: 4948. LocusLink:

Tyrosinase (oculocutaneous albinism IA) (TYR); Locus ID: 7299. LocusLink:

Tyrosinase‐related protein 1 (TYRP1); Locus ID: 7306. LocusLink:

Chediak‐Higashi syndrome 1 (CHS1); MIM number: 606897. OMIM:‐post/Omim/dispmim?606897

Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) (MC1R); MIM number: 155555. OMIM:‐post/Omim/dispmim?155555

Oculocutaneous albinism II (pink‐eye dilution homolog, mouse) (OCA2); MIM number: 203200. OMIM:‐post/Omim/dispmim?203200

Tyrosinase (oculocutaneous albinism IA) (TYR); MIM number: 606933. OMIM:‐post/Omim/dispmim?606933

Tyrosinase‐related protein 1 (TYRP1); MIM number: 115501. OMIM:‐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. [doi: 10.1038/npg.els.0006035]