Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma

European Journal of Human Genetics

Volumn 13, Issue 8, 2005, Pages 913-920

  Jannot, Anne Sophie ^a   Meziani, Roubila ^b   Bertrand, Guylene ^b   Gérard, Benedicte ^b   Descamps, Vincent ^b   Archimbaud, Alain ^b   Picard, Catherine ^b   Ollivaud, Laurence ^c   Basset Seguin, Nicole ^c   Kerob, Delphine ^c   Lanternier, Guy ^d   Lebbe, Celeste ^c   Saiag, P ^e   Crickx, Beatrice ^b   Clerget Darpoux, Françoise ^a   Grandchamp, Bernard ^b   Soufir, Nadem ^b  

^a HÔPITAL PAUL BROUSSE   (France)

^b BICHAT HOSPITAL   (France)

^c SAINT LOUIS HOSPITAL   (France)

^d PERCY MILITARY HOSPITAL   (France)

^e HÔPITAL AMBROISE PARÉ   (France)

Author keywords

Association study; Combination test; Melanoma; SNP interaction

Indexed keywords

MELANOCORTIN 1 RECEPTOR; MEMBRANE PROTEIN;

ADULT; AGED; ALLELE; ANAMNESIS; ARTICLE; CAUCASIAN; CHROMOSOME 5Q; CLINICAL FEATURE; CONTROLLED STUDY; GENE LOCUS; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MELANOMA; OCULOCUTANEOUS ALBINISM; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; RISK ASSESSMENT; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN CANCER; SKIN PIGMENTATION; STATISTICAL MODEL;

ADULT; AGED; EYE COLOR; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAIR COLOR; HUMANS; MELANOMA; MEMBRANE TRANSPORT PROTEINS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, MELANOCORTIN, TYPE 1; REGRESSION ANALYSIS; SKIN NEOPLASMS; SKIN PIGMENTATION;

EID: 23644448602     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201415     Document Type: Article

References (43)

1. Dreno B, Wallon-Dumont G: Epidemiology of melanoma. Presse Med 2003; 32: 30-32.
2. Kamb A, Shattuck-Eidens D, Eeles R et al: Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nat Genet 1994; 8: 23-26.
3. Hussussian CJ, Struewing JP, Goldstein AM et al: Germline p16 mutations in familial melanoma. Nat Genet 1994; 8: 15-21.
4. Zuo L, Weger J, Yang Q et al: Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. Nat Genet 1996; 12: 97-99.
5. Holland EA, Schmid H, Kefford RF, Mann GJ: CDKN2A (P16(INK4a)) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas. Genes Chromosomes Cancer 1999; 25: 339-348.
6. Palmer JS, Duffy DL, Box NF et al: Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype? Am J Hum Genet 2000; 66: 176-186.
7. Kennedy C, ter Huurne J, Berkhout M et al: Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color. J Invest Dermatol 2001; 117: 294-300.
8. Matichard E, Verpillat P, Meziani R et al: Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure. J Med Genet 2004; 41: e13.
9. Lee ST, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA: Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med 1994; 330: 529-534.
10. Ramsay M, Colman MA, Stevens G et al: The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11-q12. Am J Hum Genet 1992; 51: 879-884.
11. Staleva L, Manga P, Orlow SJ: Pink-eyed dilution protein modulates arsenic sensitivity and intracellular glutathione metabolism. Mol Biol Cell 2002; 13: 4206-4220.
12. Gardner JM, Nakatsu Y, Gondo Y et al: The mouse pink-eyed dilution gene: association with human Prader-Willi and Angel-man syndromes. Science 1992; 257: 1121-1124.
13. Bianchi AB, Fischer SM, Robles AI, Rinchik EM, Conti CJ: Overexpression of cyclin D1 in mouse skin carcinogenesis. Oncogene 1993; 8: 1127-1133.
14. Rinchik EM, Bultman SJ, Horsthemke B et al: A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 1993; 361: 72-76.
15. Rosemblat S, Sviderskaya EV, Easty DJ et al: Melanosomal defects in melanocytes from mice lacking expression of the pink-eyed dilution gene: correction by culture in the presence of excess tyrosine. Exp Cell Res 1998; 239: 344-352.
16. Orlow SJ, Brilliant MH: The pink-eyed dilution locus controls the biogenesis of melanosomes and levels of melanosomal proteins in the eye. Exp Eye Res 1999; 68: 147-154.
17. Hirobe T, Kawa Y, Mizoguchi M, Ito S, Wakamatsu K: Effects of genic substitution at the pink-eyed dilution locus on the proliferation and differentiation of mouse epidermal melanocytes in vivo and in vitro. J Exp Zool 2002; 292: 351-366.
18. Ozeki H, Ito S, Wakamatsu K, Hirobe T: Chemical characterization of hair melanins in various coat-color mutants of mice. J Invest Dermatol 1995; 105: 361-366.
19. Tamate HB, Hirobe T, Wakamatsu K, Ito S, Shibahara S, Ishikawa K: Levels of tyrosinase and its mRNA in coat-color mutants of C57BL/10J congenic mice: effects of genic substitution at the agouti, brown, albino, dilute, and pink-eyed dilution loci. J Exp Zool 1989; 250: 304-311.
20. Lamoreux ML, Zhou BK, Rosemblat S, Orlow SJ: The pinkeyed-dilution protein and the eumelanin/pheomelanin switch: in support of a unifying hypothesis. Pigment Cell Res 1995; 8: 263-270.
21. Chen K, Manga P, Orlow SJ: Pink-eyed dilution protein controls the processing of tyrosinase. Mol Biol Cell 2002; 13: 1953-1964.
22. Toyofuku K, Valencia JC, Kushimoto T et al: The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. Pigment Cell Res 2002; 15: 217-224.
23. Lee ST, Nicholls RD, Jong MT, Fukai K, Spritz RA: Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 1995; 26: 354-363.
24. Ancans J, Flanagan N, Hoogduijn MJ, Thody AJ: P-locus is a target for the melanogenic effects of MC-1R signaling: a possible control point for facultative pigmentation. Ann NY Acad Sci 2003; 994: 373-377.
25. Sturm RA, Duffy DL, Box NF et al: The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes. Pigment Cell Res 2003; 16: 266-272.
26. Rebbeck TR, Kanetsky PA, Walker AH et al: P gene as an inherited biomarker of human eye color. Cancer Epidemiol Biomarkers Prev 2002; 11: 782-784.
27. Newton JA, Bataille V, Griffiths K et al: How common is the atypical mole syndrome phenotype in apparently sporadic melanoma? J Am Acad Dermatol 1993; 29: 989-996.
28. Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
29. Matichard E VP, Meziani R, Gérard B et al: Melanocortin 1 receptor (MC1R) gene variants increase the risk of melanoma in France independently of clinical risk factors and UV exposure. J Med Genet 2004; 41: e13.
30. Frandberg PA, Doufexis M, Kapas S, Chhajlani V: Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor. Biochem Biophys Res Commun 1998; 245: 490-492.
31. Schioth HB, Phillips SR, Rudzish R, Birch-Machin MA, Wikberg JE, Rees JL: Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair. Biochem Biophys Res Commun 1999; 260: 488-491.
32. Jimenez-Cervantes C, Germer S, Gonzalez P, Sanchez J, Sanchez CO, Garcia-Borron JC: Thr40 and Met122 are new partial loss-of-function natural mutations of the human melanocortin 1 receptor. FEBS Lett 2001; 508: 44-48.
33. Xu X, Thornwall M, Lundin LG, Chhajlani V: Val92Met variant of the melanocyte stimulating hormone receptor gene (letter; comment). Nat Genet 1996; 14: 384.
34. Mas JS, Sanchez CO, Ghanem G et al: Loss-of-function variants of the human melanocortin-1 receptor gene in melanoma cells define structural determinants of receptor function. Eur J Biochem 2002; 269: 6133-6141.
35. Valverde P, Healy E, Sikkink S et al: The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma. Hum Mol Genet 1996; 5: 1663-1666.
36. Devlin B, Risch N: A comparison of linkage disequilibrium measures for fine-scale mapping. Genomics 1995; 29: 311-322.
37. Jannot AS, Essioux L, Reese MG, Clerget-Darpoux F: Improved use of SNP information to detect the role of genes. Genet Epidemiol 2003; 25: 158-167.
38. Oetting WS, King RA: Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat 1999; 13: 99-115.
39. Sturm RA, Teasdale RD, Box NF: Human pigmentation genes: identification, structure and consequences of polymorphic variation. Gene 2001; 277: 49-62.
40. Drysdale CM, McGraw DW, Stack CB et al: Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. Proc Natl Acad Sci USA 2000; 97: 10483-10488.
41. Duffy DL, Box NF, Chen W et al: Interactive effects of MC1R and OCA2 on melanoma risk phenotypes. Hum Mol Genet 2004; 13: 447-461.
42. Sturm RA, Duffy DL, Box NF et al: Genetic association and cellular function of MC1R variant alleles in human pigmentation. Ann NY Acad Sci 2003; 994: 348-358.
43. Frudakis T, Thomas M, Gaskin Z et al: Sequences associated with human iris pigmentation. Genetics 2003; 165: 2071-2083.