Human pigmentation genes and their response to solar UV radiation

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 422, Issue 1, 1998, Pages 69-76

  Sturm, Richard A ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

Melanocyte; Melanoma; MSHR; P locus; Skin tanning; Tyrosinase

Indexed keywords

INTERMEDIN; MELANIN; MONOPHENOL MONOOXYGENASE;

CONFERENCE PAPER; GENE MUTATION; HUMAN; KERATINOCYTE; MELANOCYTE; MELANOGENESIS; PIGMENTATION; PRIORITY JOURNAL; RADIATION PROTECTION; SKIN CANCER; SKIN PROTECTION; SUN EXPOSURE; SUNLIGHT; ULTRAVIOLET IRRADIATION;

ANIMALS; GENE EXPRESSION REGULATION; HUMANS; MELANINS; PROTEIN PROCESSING, POST-TRANSLATIONAL; SKIN; SKIN PIGMENTATION; SUNLIGHT; TRANSCRIPTION, GENETIC; ULTRAVIOLET RAYS;

EID: 0032501171     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0027-5107(98)00176-6     Document Type: Conference Paper

References (42)

1. [1] D.J. Leffell, D.E. Brash, Sunlight and skin and cancer, Sci. American 275 (1996) 38-43.
2. [2] H.Z. Hill, The function of melanin or six blind people examine an elephant, BioEssays 14 (1992) 49-56.
3. [3] N. Kollias, R.M. Sayre, L. Zeise, M.R. Chedekel, Photoprotection by melanin, J. Photochem. Photobiol. B Biol. 9 (1991) 135-160.
4. [4] G. Prota, Melanins and Melanogenesis, Academic Press, New York, 1992.
5. [5] J.M. Pawelek, After dopachrome?, Pigment Cell Res. 4 (1991) 53-62.
6. [6] C. Jimenez-Cervantes, F. Solano, T. Kobayashi, K. Urabe, V.J. Hearing, J.A. Lozano, J.C. Garcia-Borron, A new enzymatic function in the melanogenic pathway - the 5,6-dihydroxyindole-2-carboxylic acid oxidase activity of tyrosinase-related protein-1 (TRP1), J. Biol. Chem. 269 (1994) 17993-18001.
7. [7] T. Kobayashi, K. Urabe, A. Winder, C. Jimenez-Cervantes, G. Imokawa, T. Brewington, F. Solano, J.C. Garcia-Borron, V.J. Hearing, Tyrosinase related protein 1 (TRP1) functions as a DHICA oxidase in melanin biosynthesis, EMBO J. 13 (1994) 5818-5825.
8. [8] K. Urabe, P. Aroca, K. Tsukamoto, D. Mascagna, A. Palumbo, G. Prota, V.J. Hearing, The inherent cytotoxicity of melanin precursors: a revision, Biochem. Biophys. Acta 1221 (1994) 272-278.
9. [9] M. Miranda, A. Bonfigli, O. Zarivi, A. Manilla, A.M. Cimini, A. Arcadi, Restriction patterns of model DNA treated with 5,6-dihydroxyindole, a potent cytotoxic intermediate of melanin synthesis: effects of u.v. irradiation, Mutagenesis 2 (1987) 45-50.
10. [10] C. Routaboul, C.-L. Serpentini, P. Msika, J.-P. Cesarini, N. Paillous, Photosensitization of supercoiled DNA damage by 5,6-dihydroxyindole-2-carboxylic acid, a precursor of eumelanin, Photochem. Photobiol. 62 (1995) 469-475.
11. [11] Z.P. Harsanyi, P.W. Post, J.P. Brinkmann, M.R. Chedekel, R.M. Diebel, Mutagenicity of melanin form human red hair, Experientia 36 (1980) 291-292.
12. [12] W.H. Koch, M.R. Chedekel, Photoinitiated DNA damage by melanogenic intermediates in vitro, Photochem. Photobiol. 44 (1986) 703-710.
13. [13] S. Schmitz, P.D. Thomas, T.M. Allen, M.J. Poznansky, K. Jimbow, Dual role of melanins and melanin precursors as photoprotective and phototoxic agents: inhibition of ultraviolet radiation-induced lipid peroxidation, Photochem. Photobiol. 61 (1995) 650-655.
14. [14] I.J. Jackson, Molecular and developmental genetics of mouse coat color, Annu. Rev. Genet. 28 (1994) 189-217.
15. [15] V.J. Hearing, Unraveling the melanocyte, Am. J. Hum. Genet. 52 (1993) 1-7.
16. [16] V. del Marmol, F. Beermann, Tyrosinase and related proteins in mammalian pigmentation, FEES Letters 381 (1996) 165-168.
17. [17] G.S. Barsh, The genetics of pigmentation: from fancy genes to complex traits, TIGS 12 (1996) 299-305.
18. [18] K. Tsukamoto, I.J. Jackson, K. Urabe, P.M. Montague, V.J. Hearing, A second tyrosinase-related protein, TRP-2, is a melanogenic enzyme termed dopachrome tautomerase, EMBO J. 11 (1992) 519-526.
19. [19] R.A. Sturm, B.J. O'Sullivan, N.F. Box, A.G. Smith, S.E. Smit, E.R.J. Puttick, P.G. Parsons, I.S. Dunn, Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family, Genomics 29 (1995) 24-34.
20. [20] J.M. Gardner, Y. Nakatsu, Y. Gondo, S. Lee, M.F. Lyon, R.A. King, M.H. Brilliant, The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndrome, Science 257 (1992) 1121-1124.
21. [21] E.M. Rinchik, S.J. Bultman, B. Horsthemke, S.-T. Lee, K.M. Strunk, R.A. Spritz, K.M. Avidano, M.T.C. Jong, R.D. Nicholls, A gene for the mouse pink-eyed dilution locus and for human typeII oculocutaneous albinism, Nature 361 (1993) 72-76.
22. [22] P. Valverde, E. Healy, I. Jackson, J.L. Rees, A.J. Thody, Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans, Nature Genetics 11 (1995) 328-330.
23. [23] N.F. Box, J.R. Wyeth, L.E. O'Gorman, N.G. Martin, R.A. Sturm, Characterisation of melanocyte-stimulating hormone receptor variant alleles in twins with red hair, Hum. Mol. Genet. 6 (1997) 1891-1897.
24. [24] B.A. Gilchrest, H.-Y. Park, M.S. Eller, M. Yaar, Mechanisms of ultraviolet light-induced pigmentation, Photochem. Photobiol. 63 (1996) 1-10.
25. [25] P.S. Friedmann, B.A. Gilchrest, Ultraviolet radiation directly induces pigment production by cultured human melanocytes, J. Cell Physiol. 133 (1987) 88-94.
26. [26] P.S. Friedman, F.E. Wren, J.N.S. Matthews, Ultraviolet stimulated melanogenesis by human melanocytes is augmented by diacyl glycerol but not TPA, J. Cell Physiol. 142 (1990) 334-341.
27. [27] M.S. Eller, M. Yaar, B.A. Gilchrest, DNA damage and melanogenesis, Nature 372 (1994) 413-414.
28. [28] M.S. Eller, K. Ostrom, B.A. Gilchrest, DNA damage enhances melanogenesis, Proc. Natl. Acad. Sci. U.S.A. 93 (1996) 1087-1092.
29. [29] E. Aberdam, C. Romero, J.P. Ortone, Repeated UVB irradiations do not have the same potential to promote stimulation of melanogenesis in cultured normal human melanocytes, J. Cell Sci. 106 (1993) 1015-1022.
30. [30] J.M. Pawelek, A.K. Chakraborty, M.P. Osber, S. Orlow, K.K. Min, K.E. Rosenzweig, J.L. Bolognia, Molecular cascades in UV-induced melanogenesis: a central role for melanotropins?, Pigment Cell Res. 5 (1992) 348-356.
31. [31] A. Slominski, J. Baker, G. Ermak, A. Chakraborty, J. Pawelek, Ultraviolet B stimulates production of corticotropin releasing factor (CRF) by human melanocytes, FEBS Letters 399 (1996) 175-176.
32. [32] S.D. McLeod, C. Smith, R. S Mason, Stimulation of tyrosinase in human melanocytes by pro-opiomelanocortin-derived peptides, J. Endocrinology 146 (1995) 439-447.
33. [33] H.-Y. Park, V. Russakovsky, Y. Ao, E. Fernandez, B.A. Gilchrest, α-Melanocyte stimulating hormone-induced pigmentation is blocked by depletion of protein kinase C, Exp. Cell Res. 227 (1996) 70-79.
34. [34] H. Mahalingam, J. Vaughn, J. Novotny, J.R. Gruber, R.M. Niles, Regulation of melanogenesis in B16 mouse melanoma cells by protein kinase C, J. Cell. Physiol. 168 (1996) 549-558.
35. [35] C.J. Carsberg, H.M. Warenious, P.S. Friedmann, Ultraviolet radiation-induced melanogenesis in human melanocytes: effects of modulating protein kinase C, J. Cell Sci. 107 (1994) 2591-2597.
36. [36] H.-Y. Park, V. Russakovsky, S. Ohno, B.A. Gilchrest, The β isoform of protein kinase C stimulates human melanogenesis by activating tyrosinase in pigment cells, J. Biol. Chem. 268 (1993) 11742-11749.
37. [37] M. Lamoreux L, B.-K. Zhou, S. Rosemblat, S.J. Orlow, The pinkeye-dilution protein and the eumelanin/pheomelanin switch: in support of a unifying hypothesis, Pigment Cell Res. 8 (1995) 263-270.
38. [38] S.J. Orlow, B.-K. Zhou, A.K. Chakraborty, M. Drucker, S. Pifko-Hirst, J.M. Pawelek, High-molecular-weight forms of tyrosinase and the tyrosinase-related proteins: evidence for a melanogenic complex, J. Invest. Dermatol. 103 (1994) 196-201.
39. [39] A. Winder, T. Kobayashi, K. Tsukamoto, K. Urabe, P. Aroca, K. Kameyama, V.J. Hearing, The tyrosinase gene family-interactions of melanogenic proteins to regulate melanogenesis, Cell. Mol. Biol. Res. 40 (1994) 613-626.
40. [40] E.E. Medrano, J.Z. Farooqui, R.E. Boissy, Y.L. Boissy, B. Akadiri, J.J. Nordlund, Chronic growth stimulation of human adult melanocytes by inflammatory mediators in vitro: implications for nevus formation and initial steps in melanocyte oncogenesis, Proc. Natl. Acad. Sci. U.S.A. 90 (1993) 1790-1794.
41. [41] I.-E. Shih, M. Herlyn, Role of growth factors and their receptors in development and progression of melanoma, J. Invest. Dermatol. 100 (1993) 196S-203S.
42. [42] P. Valverde, E. Healy, S. Sikkink, F. Haldane, A.J. Thody, A. Carothers, I.J. Jackson, J.L. Rees, The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma, Hum. Mol. Genet. 5 (1996) 1663-1666.