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

Annals of the New York Academy of Sciences

Volumn 994, Issue , 2003, Pages 339-347

  Ha, T ^a   Naysmith, L ^a   Waterston, K ^a   Oh, C ^a   Weller, R ^a   Rees, J L ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

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

Indexed keywords

EUMELANIN; MELANIN; MELANOCORTIN 1 RECEPTOR; PHEOMELANIN; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE INHERITANCE; BIOASSAY; CANCER SUSCEPTIBILITY; COLORIMETRY; CONFERENCE PAPER; GENE MUTATION; GENETIC VARIABILITY; HAIR COLOR; HETEROZYGOTE; HOMOZYGOTE; HUMAN; IONTOPHORESIS; LASER DOPPLER FLOWMETRY; NONHUMAN; PHENOTYPIC VARIATION; PIGMENTATION; QUANTITATIVE ANALYSIS; RADIOSENSITIVITY; RED HAIR; SKIN BLOOD FLOW; SKIN CANCER; SKIN COLOR; SKIN SENSITIVITY; SUNLIGHT; ULTRAVIOLET RADIATION;

EID: 0038050985     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2003.tb03198.x     Document Type: Conference Paper

References (27)

1. CONE, R.D., D. LU, S. KOPPULA, et al. 1996. The melanocortin receptors: agonists, antagonists, and the hormonal control of pigmentation [review]. Rec. Prog. Horm. Res. 51: 287-317.
2. BOX, N.F., J.R. WYETH, L.E. O'GORMAN, et al. 1997. Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair. Hum. Mol. Genet. 6: 1891-1897.
3. FLANAGAN, N., E. HEALY, A. RAY, et al. 2000. Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation. Hum. Mol. Genet. 9: 2531-2537.
4. SMITH, R., E. HEALY, S. SIDDIQUI, et al. 1998. Melanocortin 1 receptor variants in an Irish population. J. Invest. Dermatol. 111: 119-122.
5. VALVERDE, P., E. HEALY, I. JACKSON, et al. 1995. Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat. Genet. 11: 328-330.
6. HARDING, R.M., E. HEALY, A.J. RAY, et al. 2000. Evidence for variable selectivepressures at the human pigmentation locus, MC1R. Am. J. Hum. Genet. 66: 1351-1361.
7. MAKOVA, K.D., M. RAMSAY, T. JENKINS, et al. 2001. Human DNA sequence variation in a 6.6-kb region containing the melanocortin 1 receptor promoter. Genetics 158: 1253-1268.
8. HEALY, E., N. FLANNAGAN, A. RAY, et al. 2000. Melanocortin-1-receptor gene and sun sensitivity in individuals without red hair. Lancet 355: 1072-1073.
9. KANETSKY, P.A., J. SWOYER, S. PANOSSIAN, et al. 2002. A polymorphism in the agouti signaling protein gene is associated with human pigmentation. Am. J. Hum. Genet. 70: 770-775.
10. VOISEY, J., N.F. BOX & A. VAN DAAL. 2001. A polymorphism study of the human agouti gene and its association with MC1R. Pigm. Cell Res. 14: 264-267.
11. ROBBINS, L.S., J.H. NADEAU, K.R. JOHNSON, et al. 1993. Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 72: 827-834.
12. DAVENPORT, C.C. & C.B. DAVENPORT. 1909. Heredity of hair color in man. Am. Nat. 43: 193.
13. NEEL, J.V. 1943. Concerning the inheritance of red hair. J. Hered. 34: 93-96.
14. REED, T.E. 1952. Red hair colour as a genetical character. Ann. Eugen. 17: 115-139.
15. SCHIOTH, H.B., S. PHILLIPS, R. RUDZISH, et al. 1999. Loss of function mutations of the human melanocortin 1 receptor are common and associated with red hair. Biochem. Biophys. Res. Commun. 260: 488-491.
16. HEALY, E., S.A. JORDAN, P.S. BUDD, et al. 2001. Functional variation of MC1R alleles from red-haired individuals. Hum. Mol. Genet. 10: 2397-2402.
17. BOX, N.F., D.L. DUFFY, R. IRVING, et al. 2001. Melanocortin 1 receptor genotype is a risk factor for basal and squamous cell carcinoma. J. Invest. Dermatol. 116: 224-229.
18. PALMER, J.S., D.L. DUFFY, N.F. BOX, et al. 2000. Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype? Am. J. Hum. Genet. 66: 176-186.
19. FITZPATRICK, T.B. 1988. The validity and practicality of sun-reactive skin types I through VI. Arch. Dermatol. 124: 869-871.
20. RAMPEN, F.H., B.A. FLEUREN, T.M. DE BOO, et al. 1988. Unreliability of self-reported burning tendency and tanning ability. Arch. Dermatol. 124: 885-888.
21. WAKAMATSU, K. & S. ITO. 2002. Advanced chemical methods in melanin determination. Pigm. Cell Res. 15: 174-183.
22. WAKAMATSU, K., S. ITO & J.L. REES. 2002. Usefulness of 4-amino-3-hydroxyphenylalanine as a specific marker of pheomelanin. Pigm. Cell Res. 15: 225-232.
23. FARR, P.M. & B.L. DIFFEY. 1984. Quantitative studies on cutaneous erythema induced by ultraviolet radiation. Br. J. Dermatol. 111: 673-682.
24. RHODES, L.E. & P.S. FRIEDMANN. 1992. A comparison of the ultraviolet B-induced erythemal response of back and buttock skin. Photodermatol. Photoimmunol. Photomed. 9: 48-51.
25. LOCK-ANDERSEN, J. & H.C. WULF. 1997. Seasonal variation of skin pigmentation. Acta Derm. Venereol. (Stockh.) 77: 219-221.
26. FLANAGAN, N., A.J. RAY, C. TODD, et al. 2001. The relation between melanocortin 1 receptor genotype and experimentally assessed ultraviolet radiation sensitivity. J. Invest. Dermatol. 117: 1314-1317.
27. THODY, A.J., E.M. HIGGINS, K. WAKAMATSU, et al. 1991. Pheomelanin as well as eumelanin is present in human epidermis. J. Invest. Dermatol. 97: 340-344.