The melanocortin 1 receptor (MC1R): More than just red hair

Pigment Cell Research

Volumn 13, Issue 3, 2000, Pages 135-140

  Rees, Jonathan L ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

Loss of function mutation; MC1R; Red hair; Red heads; Skin colour; Skin type

Indexed keywords

CORTICOTROPIN RECEPTOR; MELANOCORTIN RECEPTOR;

ALLELE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENETICS; HAIR COLOR; HAPLOTYPE; HETEROZYGOTE; HUMAN; MUTATION; PHENOTYPE; POPULATION GENETICS; REVIEW; SKIN PIGMENTATION; SKIN TUMOR; SUNBURN;

ALLELES; GENETICS, POPULATION; HAIR COLOR; HAPLOTYPES; HETEROZYGOTE; HUMANS; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; RECEPTORS, CORTICOTROPIN; RECEPTORS, MELANOCORTIN; SKIN NEOPLASMS; SKIN PIGMENTATION; SUNBURN; VARIATION (GENETICS);

ANIMALIA;

EID: 0034124462     PISSN: 08935785     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0749.2000.130303.x     Document Type: Review

References (55)

1. Valverde P, Healy E, Jackson I, Rees JL, Thody AJ. Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin. Nat Genet 1995;11:328-330
2. Gilchrest BA, Eller MS, Geller AC, Yaar M. The pathogenesis of melanoma induced by ultraviolet radiation. New Engl J Med 1999;340:1341-1348
3. Bliss JM, Ford D, Swerdlow AJ, Armstrong BK, Cristofolini M, Elwood JM, Green A, Holly EA, Mack T, MacKie RM. 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 1995;62:367-376
4. Sturm RA, Box NF, Ramsay M. Human pigmentation genetics: The difference is only skin deep. Bioessays 1998;20:712-721
5. Jackson IJ. Homologous pigmentation mutations in human, mouse and other model organisms. Hum Mol Genet 1997;6:1613-1624
6. Barsh GS. The genetics of pigmentation: From fancy genes to complex traits. Trends Genet 1996;12:299-305
7. Jackson IJ. Molecular and developmental genetics of mouse coat color. Ann Rev Genet 1994;28:189-217
8. Rees JL, Birch-Machin M, Flanagan N, Healy E, Phillips S, Todd C. Genetic studies of human melanocortin-1 receptor. Annu NY Acad Sci 1999;885:134-142
9. Rees JL, Flanagan N. Pigmentation, melanocortins and red hair. Q J Med 1999;92:125-131
10. Ao Y, Park HY, Olaizola-Horn S, Gilchrest BA. Activation of cAMP-dependent protein kinase is required for optimal α-melanocyte-stimulating hormone-induced pigmentation. Exp Cell Res 1998;244:117-124
11. Barsh GS, Ollmann MM, Wilson BD, Miller KA, Gunn TM. Molecular pharmacology of Agouti protein in vitro and in vivo. Ann N Y Acad Sci 1999;885:143-152
12. Furumura M, Sakai C, Potterf SB, Vieira WD, Barsh GS, Hearing VJ. Characterization of genes modulated during pheomelanogenesis using differential display. Proc Natl Acad Sci USA 1998;95:7374-7378
13. Ollmann MM, Lamoreux ML, Wilson BD, Barsh GS. Interaction of agouti protein with the melanocortin 1 receptor in vitro and in vivo. Genes Dev 1998;12:316-330
14. Chhajlani V, Wikberg JE. Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA. FEBS Eett 1992;309:417-420
15. Mountjoy KG, Robbins LS, Mortrud MT, Cone RD. The cloning of a family of genes that encode the melanocortin receptors. Science 1992;257:1248-1251
16. Cone RD, Lu D, Koppula S, Vage DI, Klungland H, Boston B, Chen W, Orth DN, Pouton C, Kesterson RA. The melanocortin receptors: Agonists, antagonists, and the hormonal control of pigmentation. Rec Prog Horm Res 1996;51:287-317
17. Lu D, Chen W, Cone RD. Regulation of melanogenesis by the MSH Receptor. In: Nordlund JJ, Boissy RE, Hearing VJ, King RA, Ortonne JP. The Pigmentary System: Physiology and Pathophysiology. New York: Oxford; 1998. pp. 183-198
18. Abdel-Malek Z, Swope VB, Suzuki I, Akcali C, Harriger MD, Boyce ST, Urabe K, Hearing VJ. Mitogenic and melanogenic stimulation of normal human melanocytes by melanotropic peptides. Proc Natl Acad Sci USA 1995;92:1789-1793
19. Hunt G, Todd C, Cresswell JE, Thody AJ. Alpha-melanocyte stimulating hormone and its analogue Nle4DPhe7 alpha-MSH affect morphology, tyrosinase activity and melanogenesis in cultured human melanocytes. J Cell Sci 1994;107:205-211
20. Wakamatsu K, Graham A, Cook D, Thody AJ. Characterisation of ACTH peptides in human skin and their activation of the melanocortin-1 receptor. Pigment Cell Res 1997;10:288-297
21. Krude H, Biebermann H, Luck W, Horn R, Brabant G, Grüters A. Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. Nat Genet 1998;19:155-157
22. Robbins LS, Nadeau JH, Johnson KR, Kelly MA, Roselli-Rehfuss L, Baack E, Mountjoy KG, Cone RD. Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 1993;72:827 834
23. Klungland H, Vage DI, Gomez-Raya L, Adalsteinsson S, Lien S. The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination. Mamm Genome 1995;6:636-639
24. Joerg H, Fries HR, Meijerink E, Stranzinger GF. Red coat color in Holstein cattle is associated with a deletion in the MSHR gene. Mamm Genome 1996;7:317-318
25. Marklund L, Moller MJ, Sandberg K, Andersson L. A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated with the chestnut coat color in horses. Mamm Genome 1996;7:895-899
26. Takeuchi S, Suzuki S, Hirose S, Yabuuchi M, Sato C, Yamamoto H, Takahashi S. Molecular cloning and sequence analysis of the chick melanocortin 1-receptor gene. Biochim Biophys Acta 1996;1306:122-126
27. Takeuehi S, Suzuki H, Yabuuchi M, Takahashi S. A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the chicken. Biochim Biophys Acta 1996;1308:164-168
28. Våge DI, Lu DS, Klungland H, Lien S, Adalsteinsson S, Cone RD. A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes. Nat Genet 1997;15:311-315
29. Våge DI, Klungland H, Lu D, Cone RD. Molecular and pharmacological characterization of dominant black coat color in sheep. Mamm Genome 1999;10:39-43
30. Gantz I, Yamada T, Tashiro T, Konda Y, Shimoto Y, Miwa H, Trent JM. Mapping of the gene encoding the melanocortin-1 (alpha-melanocyte stimulating hormone) receptor (MC1R) to human chromosome 16q24.3 by fluorescence in situ hybridization. Genomics 1994;19:394-395
31. Tan CP, McKee KK, Weinberg DH, MacNeil T, Palyha OC, Feighner SD, Hremuk DL, Van der Ploeg LHT, MacNeil DJ, Howard AD. Molecular analysis of a new splice variant of the human melanocortin-1 receptor. FEBS Lett 1999;451:137-141
32. Chakraborty AK, Funasaka Y, Pawelek JM, Nagahama M, Ito A, Ichihashi M. Enhanced expression of melanocortin-1 receptor (MC1-R) in normal human keratinocytes during differentiation: Evidence for increased expression of POMC peptides near suprabasal layer of epidermis. J Invest Dermatol 1999;112:853-860
33. Hartmeyer M, Scholzen T, Becher E, Bhardwaj RS, Schwarz T, Luger TA. Human dermal microvascular endothelial cells express the melanocortin receptor type 1 and produce increased levels of IL-8 upon stimulation with α-melanocyte-stimulating hormone. J Immunol 1997;159:1930-1937
34. Scholzen T, Armstrong CA, Bunnett N, Luger TA, Olerud J, Ansel JC. Neuropeptides in the skin: Interactions between the neuroendocrine and the skin immune systems. Exp Dermatol 1998;7:81-96
35. Bhardwaj RS, Luger TA. Proopiomelanocortin production by epidermal cells: Evidence for an immune neuroendocrine network in the epidermis. Arch Dermatol Res 1994;287:85-90
36. Moro O, Ideta R, Ifuku O. Characterization of the promoter region of the human melanocortin-1 receptor (MC1R) gene. Biochem Biophys Res Commun 1999;262:452-460
37. Spritz RA. A study in scarlet [news; comment]. Nat Genet 1995;11:225-226
38. Box NF, Wyeth JR, O'Gorman LE, Martin NG, Sturm RA. Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair. Hum Mol Genet 1997;6:1891-1897
39. Smith R, Healy E, Siddiqui S, Flanagan N, Steijlen PM, Rosdahl I, Jacques JP, Rogers S, Turner R, Jackson IJ, Birch-Machin MA, Rees JL. Melanocortin 1 receptor variants in an Irish population. J Invest Dermatol 1998;111:119-122
40. Frändberg 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
41. Schioth HB, Phillips S, Rudzish R, Birch-Machin M, Wikberg J, Rees JL. Loss of function mutations of the human melanocortin 1 receptor are common and associated with red hair. Biochem Biophys Res Commun 1999;260:488-491
42. Harding RM, Healy E, Ray AJ, Ellis NS, Flanagan N, Todd C, Dixon C, Sajantila A, Jackson IJ, Birch-Machin MA, Rees JL. Evidence for variable selective pressures at the human pigmentation locus, MC1R. Am J Hum Genet 2000;66
43. Koppula SV, Robbins LS, Lu D, Baack E, White CRJ, Swanson NA, Cone RD. Identification of common polymorphisms in the coding sequence of the human MSH receptor (MCIR) with possible biological effects. Hum Mutat 1997;9:30-36
44. Rana BK, Hewett-Emmett D, Jin L, Chang BHJ, Sambuughin N, Lin M, Watkins S, Bamshad M, Jorde LB, Ramsay M, Jenkins T, Li WH. High polymorphism at the human melanocortin 1 receptor locus. Genetics 1999;151:1547-1557
45. Valverde P, Healy E, Sikkink S, Haldane F, Thody AJ, Carothers A, Jackson IJ, Rees JL. The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma. Hum Mol Genet 1996;5:1663-1666
46. Ichii-Jones F, Lear JT, Heagerty AHM, Smith AG, Hutchinson PE, Osborne J, Bowers B, Jones PW, Davies E, Ollier WER, Thomson W, Yengi L, Bath J, Fryer AA, Strange RC. Susceptibility to melanoma: Influence of skin type and polymorphism in the melanocyte stimulating hormone receptor gene. J Invest Dermatol 1998;111:218-221
47. Jones FI, Ramachandran S, Lear J, Smith A, Bowers B, Ollier WER, Jones P, Fryer AA, Strange RC. The melanocyte stimulating hormone receptor polymorphism: Association of the V92M and A294H alleles with basal cell carcinoma. Clin Chim Acta 1999;282:125-134
48. Palmer JS, Duffy DL, Box NF, Aitken JF, O'Gorman LE, Green AC, Hayward NK, Martin NG, Sturm RA. Melanocortin-1 receptor polymorphisms and risk of melanoma: Is the association explained solely by pigmentation phenotype? Am J Hum Genet 2000;66:176-186
49. Strange RC, Ichii-Jones F, Lear JT, Hutchinson PE, Fryer AA. Skin type, melanoma, and melanocortin 1 receptor variants -Reply. J Invest Dermatol 1999;112:513-513
50. Healy E, Todd C, Jackson IJ, Birch-Machin M, Rees JL. Skin type, melanoma, and melanocortin 1 receptor variants. J Invest Dermatol 1999;112:512-513
51. Bodmer WF, Cavalli-Sforza LL. Genetics. Evolution and Man. San Francisco: W.H. Freeman; 1976
52. Kingdon J. Self-Made Man. London: Simon and Schuster; 1993
53. Fitzpatrick TB. The validity and practicality of sun-reactive skin types I through VI. Arch Dermatol 1988;124:869-871
54. Healy E, Flanagan N, Ray AJ, Todd C, Jackson IJ, Matthews JNS, Birch-Machin MA, Rees JL. Melanocortin 1 receptor gene and sun sensitivity in individuals without red hair. Lancet 2000;355:1072-1073
55. Rampen FH, Fleuren BA, de Boo TM, Lemmens WA. Unreliability of self-reported burning tendency and tanning ability. Arch Dermatol 1988;124:885-888