Screening of human primary melanocytes of defined melanocortin-1 receptor genotype: Pigmentation marker, ultrastructural and UV-survival studies

Pigment Cell Research

Volumn 16, Issue 3, 2003, Pages 198-207

  Leonard, J Helen ^a   Marks, Lisa H ^a,b   Chen, Wei ^b   Cook, Anthony L ^a,b   Boyle, Glen M ^c   Smit, Darren J ^b   Brown, Darren L ^b   Stow, Jennifer L ^b   Parsons, Peter G ^c   Sturm, Richard A ^b  

^a Queensland Radium Institute   (Australia)

^b UNIVERSITY OF QUEENSLAND   (Australia)

^c QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

Author keywords

Melanoma; Melanosome; Pheomelanin; Pigmentation; Tyrosinase

Indexed keywords

DOPA; MELANIN; MELANOCORTIN 1 RECEPTOR; MONOPHENOL MONOOXYGENASE; SYNAPSIN I;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CELL CULTURE; CELL PROLIFERATION; CELL STRUCTURE; CELL SURVIVAL; CELL ULTRASTRUCTURE; CONTROLLED STUDY; CULTURE MEDIUM; DNA EXTRACTION; GENE FREQUENCY; GENE SEQUENCE; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MELANOCYTE; NEWBORN; PHENOTYPE; PROTEIN EXPRESSION; SKIN PIGMENTATION; ULTRAVIOLET RADIATION;

ALLELES; ALPHA-MSH; ANTIGENS; ARGININE; CELL SURVIVAL; CELLS, CULTURED; CYSTINE; DIHYDROXYPHENYLALANINE; DNA; GENETIC MARKERS; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MELANINS; MELANOCYTES; MELANOMA; MELANOSOMES; MICROSCOPY, ELECTRON; MICROSCOPY, FLUORESCENCE; MONOPHENOL MONOOXYGENASE; PHENOTYPE; PIGMENTATION; TRYPTOPHAN; ULTRAVIOLET RAYS;

EID: 0038413866     PISSN: 08935785     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0749.2003.00033.x     Document Type: Article

References (61)

1. Iozumi K, Hoganson GE, Pennella R, Everett MA, Fuller BB. Role of tyrosinase as the determinant of pigmentation in cultured human melanocytes. J Invest Dermatol 1993;100:806-811
2. Abdel-Malek Z, Swope V, Collins C, Boissy R, Zhao H, Nordlund J. Contribution of melanogenic proteins to the heterogeneous pigmentation of human melanocytes. J Cell Sci 1993;106:1323-1331
3. Barker D, Dixon K, Medrano EE, Smalara D, Im S, Mitchell D, Babcock G, Abdel-Malek ZA. Comparison of the responses of human melanocytes with different melanin contents to ultraviolet B irradiation. Cancer Res 1995;55:4041-4046
4. Hunt G, Todd C, Thody AJ. Unresponsiveness of human epidermal melanocytes to melanocyte-stimulating hormone and its association with red hair. Mol Cell Endocrinol 1996;116:131-136
5. Bohm M, Moellmann G, Cheng E, Alvarez-Franco M, Wagner S, Sassone-Corsi P, Halaban R. Identification of p90RSK as the probable CREB-Ser133 kinase in human melanocytes. Cell Growth Differ 1995;6:291-302
6. Im S, Moro O, Peng F, Medrano EE, Cornelius J, Babcock G, Nordlund JJ, Abdel-Malek ZA. Activation of the cyclic AMP pathway by alpha-melanotropin mediates the response of human melanocytes to ultraviolet B radiation. Cancer Res 1998;58:47-54
7. Tada A, Suzuki I, Im S, Davis MB, Cornelius J, Babcock G, Nordlund JJ, Abdel-Malek ZA. Endothelin-1 is a paracrine growth factor that modulates melanogenesis of human melanocytes and participates in their responses to ultraviolet radiation. Cell Growth Differ 1998;9:575-584
8. Donatien PD, Hunt G, Pieron C, Lunec J, Taieb A, Thody AJ. The expression of functional MSH receptors on cultured human melanocytes. Arch Dermatol Res 1992;284:424-426
9. De Luca M, Siegrist W, Bondanza S, Mathor M, Cancedda R, Eberle AN. Alpha melanocyte stimulating hormone (alpha MSH) stimulates normal human melanocyte growth by binding to high-affinity receptors. J Cell Sci 1993;105:1079-1084
10. Thody AJ, Hunt G, Donatien PD, Todd C. Human melanocytes express functional melanocyte-stimulating hormone receptors. Ann N Y Acad Sci 1993;680:381-390
11. 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 1994a;107:205-211
12. Hunt G, Donatien PD, Lunec J, Todd C, Kyne S, Thody AJ. Cultured human melanocytes respond to MSH peptides and ACTH. Pigment Cell Res 1994b;7:217-221
13. 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 U S A 1995;92:1789-1793
14. McLeod SD, Smith C, Mason RS. Stimulation of tyrosinase in human melanocytes by pro-opiomelanocortin-derived peptides. J Endocrinol 1995;146:439-447
15. Hunt G, Donatien PD, Cresswell JE, Thody AJ. The effect of alpha-MSH on the attachment of human melanocytes to laminin and fibronectin. Evidence for specific alpha-MSH receptors on these cells. Ann N Y Acad Sci 1993;680:549-551
16. Scott G, Cassidy L, Abdel-Malek Z. Alpha-melanocyte-stimulating hormone and endothelin-1 have opposing effects on melanocyte adhesion, migration, and pp125FAK phosphorylation. Exp Cell Res 1997;237:19-28
17. Hedley SJ, Gawkrodger DJ, Weetman AP, Macneil S. Alpha-MSH and melanogenesis in normal human adult melanocytes. Pigment Cell Res 1998;11:45-56
18. Bessou S, Surleve-Bazeille JE, Pain C, Donatien P, Taieb A. Ex vivo study of skin phototypes. J Invest Dermatol 1996;107:684-688
19. Busca R, Ballotti R. Cyclic AMP a key messenger in the regulation of skin pigmentation. Pigment Cell Res 2000;13:60-69
20. Sturm RA, Teasdale RD, Box NF. Human pigmentation genes: identification, structure and consequences of polymorphic variation. Gene 2001;277:49-62
21. Sturm RA. Skin colour and skin cancer - MC1R, the genetic link. Melanoma Res 2002;12:405-416
22. 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
23. 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
24. Healy E, Jordan SA, Budd PS, Suffolk R, Rees JL, Jackson IJ. Functional variation of MC1R alleles from red-haired individuals. Hum Mol Genet 2001;10:2397-2402
25. 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 in humans. Nature Genet 1995;11:328-330
26. Box NF, Wyeth JR, O'Gorman LE, Martin NG, Sturm RA. Characterization of melanocyte stimulating hormone variant alleles in twins with red hair. Human Mol Genet 1997;6:1891-1897
27. 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
28. Duffy DL, Box NF, Chen W, Palmer JS, Montgomery GW, James MR, Hayward NK, Green A, Martin NG, Sturm RA. Interactive effects of MC1R and OCA2 on melanoma risk phenotypes, in press.
29. Halaban R. The regulation of normal melanocyte proliferation. Pigment Cell Res 2000;13:4-14
30. Bennett DC, Medrano EE. Molecular regulation of melanocyte senescence. Pigment Cell Res 2002;15:242-250
31. Abdel-Malek Z, Scott MC, Suzuki I, Tada A, Im S, Lamoreux L, Ito S, Barsh G, Hearing VJ. The melanocortin-receptor is a key regulator of human cutaneous pigmentation. Pigment Cell Res 2000;13:156-162
32. Sturm RA, Duffy DL, Box NF, Newton RA, Shepherd AG, Chen W, Marks LH, Leonard JH, Martin NG. Genetic association and cellular function of MC1R variant alleles in human pigmentation. Ann N Y Acad Sci, in press.
33. Box NF, Duffy DL, Chen W, Stark M, Martin NG, Sturm RA, Hayward NK. MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. Am J Hum Genet 2001b;69:765-773
34. 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
35. Box NF, Duffy DL, Irving RE, Russell A, Chen W, Griffyths LR, Parsons PG, Green AC, Sturm RA. Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma. J Invest Dermatol 2001a;116:224-229
36. Leonard JH, Cook AL, Van Gele M, Boyle GM, Inglis KJ, Speleman F, Sturm RA. Proneural and proneuroendocrine transcription factor expression in cutaneous mechanoreceptor (Merkel) cells and Merkel cell carcinoma. Int J Cancer 2002;101:103-110
37. Pruss RM, Mirsky R, Raff MC, Thorpe R, Dowding AJ, Anderton BH. All classes of intermediate filaments share a common antigenic determinant defined by a monoclonal antibody. Cell 1981;27:419-428
38. McEwan M, Parsons PG, Moss DJ. Monoclonal antibody against human tyrosinase and reactive with melanotic and amelanotic melanoma cells. J Invest Dermatol 1988;90:515-519
39. Takahashi H, Parsons PG. In vitro phenotypic alteration of human melanoma cells induced by differentiating agents: heterogeneous effects on cellular growth and morphology, enzymatic activity, and antigenic expression. Pigment Cell Res 1990;3:223-232
40. Takahashi H, Parsons PG, Favier D, McEwan M, Strutton GM, Akutsu Y, Jimbow K. Complementary expression of melanosomal antigens and constant expression of pigment-independent antigen during the evolution of melanocytic tumours. Virchows Arch a Pathol Anat Histopathol 1990;416:513-519
41. Wylie F, Heimann K, Le TL, Brown D, Rabnott G, Stow JL. GAIP, a Galphai-3-binding protein, is associated with Golgi-derived vesicles and protein trafficking. Am J Physiol 1999;276:C497-C506
42. Boyle GM, Bodero AJ, Pedley J, Leonard JH, Parsons PG. Transcriptional responses of human melanocytes to solar UV. Redox Rep 1999;4:307-308
43. Papazisis KT, Geromichalos GD, Dimitriadis KA, Kortsaris AH. Optimization of the sulforhodamine B colorimetric assay. J Immunol Meth 1997;208:151-158
44. John PR, Ramsay M. Four novel variants in MC1R in red-haired South African individuals of European descent S83P, Y152X, A171D, P256S. Hum Mutat 2002;19:461-462
45. Urabe K, Aroca P, Tsukamoto K, Mascagna D, Palumbo A, Prota G, Hearing VJ. The inherent cytotoxicity of melanin precursors: a revision. Biochim Biophys Acta 1994;1221:272-278
46. Marks MS, Seabra MC. The melanosome: membrane dynamics in black and white. Nat Rev Mol Cell Biol 2001;2:738-748
47. Scott MC, Wakamatsu K, Ito S, Kadekaro AL, Kobayashi N, Groden J, Kavanagh R, Takakuwa T, Virador V, Hearing VJ, Abdel-Malek ZA. Human melanocortin 1 receptor variants, receptor function and melanocyte response to UV radiation. J Cell Sci 2002;115:2349-2355
48. Smit NP, Kolb RM, Lentjes EG, Noz KC, van der Meulen H, Koerten HK, Vermeer BJ, Pavel S. Variations in melanin formation by cultured melanocytes from different skin types. Arch Dermatol Res 1998;290:342-349
49. del Marmol V, Ito S, Bouchard B, Libert A, Wakamatsu K, Ghanem G, Solano F. Cysteine deprivation promotes eumelanogenesis in human melanoma cells. J Invest Dermatol 1996;107:698-702
50. Smit NP, Van der Meulen H, Koerten HK, Kolb RM, Mommaas AM, Lentjes EG, Pavel S. Melanogenesis in cultured melanocytes can be substantially influenced by L-tyrosine and L-cysteine. J Invest Dermatol 1997;109:796-800
51. Hunt G, Kyne S, Ito S, Wakamatsu K, Todd C, Thody A. Eumelanin and phaeomelanin contents of human epidermis and cultured melanocytes. Pigment Cell Res 1995;8:202-208
52. Schwahn DJ, Xu W, Herrin AB, Bales ES, Medrano EE. Tyrosine levels regulate the melanogenic response to alpha-melanocyte-stimulating hormone in human melanocytes: implications for pigmentation and proliferation. Pigment Cell Res 2001;14:32-39
53. Duval C, Smit NP, Kolb AM, Regnier M, Pavel S, Schmidt R. Keratinocytes control the pheo/eumelanin ratio in cultured normal human melanocytes. Pigment Cell Res 2002;15:440-446
54. Abdel-Malek Z, Swope VB, Pallas J, Krug K, Nordlund JJ. Mitogenic, melanogenic, and cAMP responses of cultured neonatal human melanocytes to commonly used mitogens. J Cell Physiol 1992;150:416-425
55. Abdel-Malek Z, Swope V, Smalara D, Babcock G, Dawes S, Nordlund J. Analysis of the UV-induced melanogenesis and growth arrest of human melanocytes. Pigment Cell Res 1994;7:326-332
56. Hearing VJ, Phillips P, Lutzner MA. The fine structure of melanogenesis in coat color mutants of the mouse. J Ultrastruct Res 1973;43:88-106
57. Jimbow K, Ishida O, Ito S, Hori Y, Witkop CJ Jr, King RA. Combined chemical and electron microscopic studies of pheomelanosomes in human red hair. J Invest Dermatol 1983;81:506-511
58. Hearing VJ. Biochemical control of melanogenesis and melanosomal organization. J Invest Dermatol Symp Proc 1999;4:24-28
59. Orlow SJ. The Biogenesis of Melanosomes. In: Nordlund JJ, Boissy RE, Hearing VJ, King RA, Ortonne J-P. In: The Pigmentory System Physiology and Pathophysiology. New York: Oxford University Press; 1998. pp. 97-106
60. Robinson SJ, Healy E. Human melanocortin 1 receptor (MC1R) gene variants alter melanoma cell growth and adhesion to extracellular matrix. Oncogene 2002;21:8037-8046
61. Duval C, Regnier M, Schmidt R. Distinct melanogenic response of human melanocytes in mono-culture, in co-culture with keratinocytes and in reconstructed epidermis, to UV exposure. Pigment Cell Res 2001;14:348-355