The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma

Human Molecular Genetics

Volumn 5, Issue 10, 1996, Pages 1663-1666

  Valverde, Paloma ^a   Healy, Eugene ^a   Sikkink, Stephen ^a   Haldane, Faye ^a   Thody, Anthony J ^a   Carothers, Andrew ^b   Jackson, Ian J ^b   Rees, Jonathan L ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HORMONE RECEPTOR; INTERMEDIN; MELANOCORTIN 1 RECEPTOR; MELANOCORTIN RECEPTOR; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ALLELE; ARTICLE; CANCER GROWTH; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; GENE FREQUENCY; GENETIC SUSCEPTIBILITY; HOMOZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MELANOCYTE; MELANOMA; POPULATION RISK; PRIORITY JOURNAL; ULTRAVIOLET RADIATION;

EID: 0029839525     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.10.1663     Document Type: Article

References (32)

1. IARC. (1992) IARC monographs on the evaluation of carcinogenic risks to humans: Solar and ultraviolet radiation. IARC Lyon.
2. Armstrong, B.K. and Kricker, A. (1994) Cutaneous melanoma. Cancer Surveys, 19-20, 219-240.
3. Report of an advisory group on non-ionising radiation. (1995) Board statement on effects of ultraviolet radiation on human health and health effects from ultraviolet radiation. Documents of the National Radiation Protection Board 6(2), Chilcot, Oxon.
4. Meyer, L.J. and Zone, J.H. (1994) Genetics of cutaneous melanoma. J. Invest. Dermatol., 103 Suppl., 112S-116S.
5. Kraemer, K.H. (1993) In Fitzpatrick, T.B., Eisen, A.Z., Wolff, K., Freedberg, I.M. and Austen, K.F. (eds), Dermatology in General Medicine. McGraw-Hill, New York, Vol. II, pp. 1974-1991.
6. Skolnick, M.H., Cannon-Albnght, L.A. and Kamb, A. (1994) Genetic predisposition to melanoma. Eur. J. Cancer, 30A, 1991-1995.
7. Bliss, J.M., Ford, D., Swerdlow, A.J., Armstrong, B.K., Cristofolini, M., Elwood, J.M., Green, A., Holly, E.A., Mack, T., Mackie, R.M., et al. (1995) Risk of cutaneous melanoma associated with pigmentation characteristics and freckling: systematic overview of 10 case-control studies. The International Melanoma Analysis Group (IMAGE). Int. J. Cancer, 62, 367-376.
8. Robbins, L.S., Nadeau, J.H., Johnson, K.R., Kelly, M.A., Roselli-Rehfuss, L., Baack, E., Mountjoy, K.G. and Cone, R.D. (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell, 72, 827-834.
9. Jackson, I.J. (1994) Molecular and developmental genetics of mouse coat color. Ann. Rev. Genet. 28, 189-217.
10. Klungland, H., Vage, D.I., Gomezraya, L., Adalsteinsson, S. and Lien, S. (1995) The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat colour determination. Mammalian Genome, 6, 636-639.
11. Joerg, H., Fries, H.R., Meijerink, E. and Stranzinger, G.F. (1996) Red coat color in holstein cattle is associated with a deletion in the MSHR gene. Mammalian Genome, 7, 317-319.
12. Johansson, M., Marklund, L., Sandberg, K. and Andersson, L. (1994) Cosegregation between the chestnut coat colour in horses and polymorphisms at the melanocyte-stimulating hormone (MSH) receptor locus. Animal Genet., 25 (Suppl. 2), 35.
13. Valverde, P., Healy, E., Jackson, I., Rees, J.L. and Thody, A.J. (1995) Variants of the melanocyte stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nature Genet., 11, 328-330.
14. Eberle, A.N. (1988) The melanotropins. Karger, Basel.
15. Thody, A.J., Ridley, K., Penny, R.J., Chalmers, R., Fisher, C. and Shuster, S. (1983) MSH peptides are present in mammalian skin. Peptides, 4, 813-816.
16. Mountjoy, K.G., Robbins, L.S., Mortrud, M.T. and Cone, R.D. (1992) The cloning of a family of genes that encode the melanocortin receptors. Science, 257, 1248-1251.
17. Chhajlani, V. and Wikberg, J.E.S. (1992) Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA. FEBS Lett., 309, 417-420.
18. Klepp, O. and Magnus, K. (1979) Some environmental and bodily characteristics of melanoma patients. A case-control study. Int. J. Cancer, 23, 482-486.
19. MacKie, R., Hunter, J.A.A., Aitchison, T.C., Hole, D., McLaren, K., Rankin, R., Blessing, K., Evans, A.T., Hutcheon, A.W., Jones, D.H., Soutar, D.S., Watson, A.C.H., Cornbleet, M.A. and Smyth, J.E (1992) Cutaneous malignant melanoma, Scotland, 1979-89. Lancet, 339, 971-975.
20. Elwood, J.M., Whitehead, S.M., Davison, J., Steward, M. and Galt, M. (1990) Malignant melanoma in England: risks associated with naevi, freckles, social class, hair colour, and sunburn. Int. J. Epidemiol., 19, 801-810.
21. Rampen, F.H., Fleuren, B.A., de Boo, T.M. and Lemmens, W.A. (1988) Unreliability of self-reported burning tendency and tanning ability. Arch. Dermatol., 124, 885-888.
22. Lunec, J., Pieron, C., Sherbet, G.V. and Thody, A.J. (1990) Alpha-melanocyte-stimulating hormone immunoreactivity in melanoma cells. Pathobiology, 58, 193-197.
23. De Luca, M., Siegrist, W., Bondanza, S., Mathor, M., Cancedda, R., Eberle, A.N. (1993) Alpha melanocyte stimulating hormone (alpha MSH) stimulates normal human melanocyte growth by binding to high-affinity receptors. J. Cell Science, 105, 1079-1084.
24. Fitzpatrick, T.B. (1988) The validity and practicality of sun-reactive skin types I through VI. Arch. Dermatol., 124, 869-871.
25. Snedecor, G.W. and Cochran, W.G. (1967) Statistical Methods. Iowa State University Press, Ames, Iowa.
26. Armitage, P. and Berry, G. (1994) Statistical methods in medical research. Blackwell, Oxford.
27. INK4 in sporadic melanoma. J. Invest. Dermatol., 107, 318-321.
28. Spritz, R.A. (1995) A study in scarlet. Nature Genet., 11, 225-226.
29. Gantz, I., Konda, Y., Tashiro, T., Shimoto, Y., Miwa, H., Munzert, G., Watson, S.J., DelValle, J. and Yamada, T. (1993) Molecular cloning of a novel melanocortin receptor. J. Biol. Chem., 268, 8246-8250.
30. Gantz, I., Miwa, H., Konda, Y., Shimoto, Y., Tashiro, T., Watson, S.J., DelValle, J. and Yamada, T. (1993) Molecular cloning, expression, and gene localization of a fourth melanocortin receptor. J. Biol. Chem., 268, 15174-15179.
31. Griffon, N., Mignon, V., Facchinetti, P., Diaz, J., Schwartz, J.C. and Sokoloff, P. (1994) Molecular cloning and characterization of the rat fifth melanocortin receptor. Biochem. Biophys. Res. Commun., 200, 1007-1014.
32. Healy, E., Belgaid, C.E., Takata, M., Valquist, A., Rehman, I., Rigby, H. and Rees, J.L. (1996) Allelotypes of primary cutaneous melanoma and benign melanocytic nevi. Cancer Res., 56, 589-593.