MLANA/MART1 and SILV/PMEL17/GP100 are transcriptionally regulated by MITF in melanocytes and melanoma

American Journal of Pathology

Volumn 163, Issue 1, 2003, Pages 333-343

  Du, Jinyan ^a   Miller, Arlo J ^a   Widlund, Hans R ^a   Horstmann, Martin A ^a   Ramaswamy, Sridhar ^a   Fisher, David E ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOVIRUS VECTOR; DNA; GENOMIC DNA; HELIX LOOP HELIX PROTEIN; LEUCINE ZIPPER PROTEIN; MELAN A; MESSENGER RNA; MONOCLONAL ANTIBODY HMB 45; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR MITF; UNCLASSIFIED DRUG;

ARTICLE; CHROMATIN; DNA SEQUENCE; ENHANCER REGION; GENE; GENE EXPRESSION; GENE GP100; GENE MART1; GENE MLANA; GENE PMEL17; GENE SILV; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; MELANOCYTE LINEAGE GENE; MELANOMA; MELANOMA CELL; MOLECULAR CLONING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; REPORTER GENE; SITE DIRECTED MUTAGENESIS; TRANSCRIPTION REGULATION; TUMOR CELL CULTURE;

EID: 0037968710     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9440(10)63657-7     Document Type: Article

References (76)

1. Hodgkinson CA, Moore KJ, Nakayama A, Steingrimsson E, Copeland NG, Jenkins NA, Arnheiter H: Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basichelix-loop-helix-zipper protein. Cell 1993, 74:395-404
2. Hemesath TJ, Steingrimsson E, McGill G, Hansen MJ, Vaught J, Hodgkinson CA, Arnheiter H, Copeland NG, Jenkins NA, Fisher DE: Microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family. Genes Dev 1994, 8:2770-2780
3. Tachibana M, Perez-Jurado LA, Nakayama A, Hodgkinson CA, Li X, Schneider M, Miki T, Fex J, Francke U, Arnheiter H: Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3. Hum Mol Genet 1994, 3:553-557
4. Bentley NJ, Eisen T, Goding CR: Melanocyte-specific expression of the human tyrosinase promoter: activation by the microphthalmia gene product and role of the initiator. Mol Cell Biol 1994, 14:7996-8006
5. Yasumoto K, Yokoyama K, Shibata K, Tomita Y, Shibahara S: Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene. Mol Cell Biol 1994, 14:8058-8070
6. Tassabehji M, Newton VE, Read AP: Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet 1994, 8:251-255
7. Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM: Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). Clin Dysmorphol 1998, 7:17-20
8. Smith SD, Kelley PM, Kenyon JB, Hoover D: Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med Genet 2000, 37:446-448
9. Price ER, Fisher DE: Sensorineural deafness and pigmentation genes: melanocytes and the Mitf transcriptional network. Neuron 2001, 30:15-18
10. Silvers WK: Microphthalmia and other considerations. The Coat Colors of Mice: A Model for Mammalian Gene Action and Interaction. Edited by WK Silvers. New York, Springer-Verlag, 1979, pp 268-291
11. Lerner AB, Shiohara T, Boissy RE, Jacobson KA, Lamoreux ML, Moellmann GE: A mouse model for vitiligo. J Invest Dermatol 1986, 87:299-304
12. Steingrimsson E, Moore KJ, Lamoreux ML, Ferre-D'Amare AR, Burley SK, Zimring DC, Skow LC, Hodgkinson CA, Arnheiter H, Copeland NG, Jenkins NA: Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Nat Genet 1994, 8:256-263
13. Carrel S, Rimoldi D: Melanoma-associated antigens. Eur J Cancer 1993, 29A:1903-1907
14. Zakut R, Perlis R, Eliyahu S, Yarden Y, Givol D, Lyman SD, Halaban R: KIT ligand (mast cell growth factor) inhibits the growth of KIT-expressing melanoma cells. Oncogene 1993, 8:2221-2229
15. Halaban R, Cheng E, Zhang Y, Moellmann G, Hanlon D, Michalak M, Setaluri V, Hebert DN: Aberrant retention of tyrosinase in the endoplasmic reticulum mediates accelerated degradation of the enzyme and contributes to the dedifferentiated phenotype of amelanotic melanoma cells. Proc Natl Acad Sci USA 1997, 94:6210-6215
16. King R, Weilbaecher KN, McGill G, Cooley E, Mihm M, Fisher DE: Microphthalmia transcription factor: a sensitive and specific melanocyte marker for melanoma diagnosis. Am J Pathol 1999, 155:731-738
17. Salti GI, Manougian T, Farolan M, Shilkaitis A, Majumdar D, Das Gupta TK: Micropthalmia transcription factor: a new prognostic marker in intermediate-thickness cutaneous malignant melanoma. Cancer Res 2000, 60:5012-5016
18. Miettinen M, Fernandez M, Franssila K, Gatalica Z, Lasota J, Sarlomo-Rikala M: Microphthalmia transcription factor in the immunohistochemical diagnosis of metastatic melanoma: comparison with four other melanoma markers. Am J Surg Pathol 2001, 25:205-211
19. Granter SR, Weilbaecher KN, Quigley C, Fisher DE: Role for microphthalmia transcription factor in the diagnosis of metastatic malignant melanoma. Appl Immunohistochem Mol Morphol 2002, 10:47-51
20. Chang KL, Folpe AL: Diagnostic utility of microphthalmia transcription factor in malignant melanoma and other tumors. Adv Anat Pathol 2001, 8:273-275
21. Kwon BS, Halaban R, Ponnazhagan S, Kim K, Chintamaneni C, Bennett D, Pickard RT: Mouse silver mutation is caused by a single base insertion in the putative cytoplasmic domain of Pmel 17. Nucleic Acids Res 1995, 23:154-158
22. Raposo G, Tenza D, Murphy DM, Berson JF, Marks MS: Distinct protein sorting and localization to premelanosomes, melanosomes, and lysosomes in pigmented melanocytic cells. J Cell Biol 2001, 152:809-824
23. Kobayashi T, Urabe K, Odow SJ, Higashi K, Imokawa G, Kwon BS, Potterf B, Hearing VJ: The Pmel 17/silver locus protein: characterization and investigation of its melanogenic function. J Biol Chem 1994, 269:29198-29205
24. Chakraborty AK, Platt JT, Kim KK, Kwon BS, Bennett DC, Pawelek JM: Polymerization of 5, 6-dihydroxyindole-2-carboxylic acid to melanin by the pmel 17/silver locus protein. Eur J Biochem 1996, 236: 180-188
25. Solano F, Martinez-Esparza M, Jimenez-Cervantes C, Hill SP, Lozano JA, Garcia-Borron JC: New insights on the structure of the mouse silver locus and on the function of the silver protein. Pigment Cell Res 2000, 13:118-124
26. Berson JF, Harper DC, Tenza D, Raposo G, Marks MS: Pmel 17 initiates premelanosome morphogenesis within multivesicular bodies. Mol Biol Cell 2001, 12:3451-3464
27. Kawakami Y, Eliyahu S, Delgado CH, Robbins PF, Sakaguchi K, Appella E, Yannelli JR, Adema GJ, Miki T, Rosenberg SA: Identification of a human melanoma antigen recognized by tumor-infiltrating lymphocytes associated with in vivo tumor rejection. Proc Natl Acad Sci USA 1994, 91:6458-6462
28. Coulie PG, Brichard V, Van Pel A, Wolfel T, Schneider J, Traversari C, Mattei S, De Plaen E, Lurquin C, Szikora JP: A new gene coding for a differentiation antigen recognized by autologous cytolytic T lymphocytes on HLA-A2 melanomas. J Exp Med 1994, 180:35-42
29. De Maziere AM, Muehlethaler K, van Donselaar E, Salvi S, Davoust J, Cerottini JC, Levy F, Slot JW, Rimoldi D: The melanocytic protein Melan-A/MART-1 has a subcellular localization distinct from typical melanosomal proteins. Traffic 2002, 3:678-693
30. Wright A, Kawakami Y, Pavan W: Martl is located on mouse chromosome 19 and is excluded as a candidate for ep and ru. Mamm Genome 1997, 8:377-378
31. Adema GJ, de Boer AJ, van 't Hullenaar R, Denijn M, Ruiter DJ, Vogel AM, Figdor CG: Melanocyte lineage-specific antigens recognized by monoclonal antibodies NKI-beteb, HMB-50, and HMB-45 are encoded by a single cDNA. Am J Pathol 1993, 143:1579-1585
32. Wagner SN, Wagner C, Hofler H, Atkinson MJ, Goos M: Expression cloning of the cDNA encoding a melanoma-associated Ag recognized by mAb HMB-45: identification as melanocyte-specific Pmel 17 cDNA. Lab Invest 1995, 73:229-235
33. Fetsch PA, Marincola FM, Filie A, Hijazi YM, Kleiner DE, Abati A: Melanoma-associated antigen recognized by T cells (MART-1): the advent of a preferred immunocytochemical antibody for the diagnosis of metastatic malignant melanoma with fine-needle aspiration. Cancer 1999, 87:37-42
34. Fetsch PA, Marincola FM, Abati A: The new melanoma markers: mART-1 and Melan-A (the NIH experience). Am J Surg Pathol 1999, 23:607-610
35. Orchard GE: Comparison of immunohistochemical labelling of melanocyte differentiation antibodies melan-A, tyrosinase, and HMB 45 with NKIC3 and S100 protein in the evaluation of benign naevi and malignant melanoma. Histochem J 2000, 32:475-481
36. Orchard GE: Melan A (MART-1): a new monoclonal antibody for malignant melanoma diagnosis. Br J Biomed Sci 1998, 55:8-9
37. Berset M, Cerottini JP, Guggisberg D, Romero P, Burri F, Rimoldi D, Panizzon RG: Expression of Melan-A/MART-1 antigen as a prognostic factor in primary cutaneous melanoma. Int J Cancer 2001, 95:73-77
38. Gown AM, Vogel AM, Hoak D, Gough F, McNutt MA: Monoclonal antibodies specific for melanocytic tumors distinguish subpopulations of melanocytes. Am J Pathol 1986, 123:195-203
39. Bacchi CE, Gown AM: Specificity of antibody HMB-45. Arch Pathol Lab Med 1992, 116:899-900
40. Kageshita T, Kawakami Y, Hirai S, Ono T: Differential expression of MART-1 in primary and metastatic melanoma lesions. J Immunother 1997, 20:460-465
41. Nicotra MR, Nistico P, Mangoni A, Di Filippo F, Marincola FM, Natali PG: Melan-A/MART-1 antigen, expression in cutaneous and ocular melanomas. J Immunother 1997, 20:466-469
42. Kaufmann O, Koch S, Burghardt J, Audring H, Dietel M: Tyrosinase, melan-A, and KBA62 as markers for the immunohistochemical identification of metastatic amelanotic melanomas on paraffin sections. Mod Pathol 1998, 11:740-746
43. Blessing K, Sanders DS, Grant JJ: Comparison of immunohistochemical staining of the novel antibody melan-A with S100 protein and HMB-45 in malignant melanoma and melanoma variants. Histopathology 1998, 32:139-146
44. Sheffield MV, Yee H, Dorvault CC, Weilbaecher KN, Eltoum IA, Siegal GP, Fisher DE, Chhieng DC: Comparison of five antibodies as markers in the diagnosis of melanoma in cytologic preparations. Am J Clin Pathol 2002, 118:930-936
45. Jager E, Ringhoffer M, Karbach J, Arand M, Oesch F, Knuth A: Inverse relationship of melanocyte differentiation antigen expression in melanoma tissues and CD8+ cytotoxic-T-cell responses: evidence for immunoselection of antigen-loss variants in vivo. Int J Cancer 1996, 66:470-476
46. Kirkin AF, Dzhandzhugazyan K, Zeuthen J: Melanoma-associated antigens recognized by cytotoxic T lymphocytes. APMIS 1998, 106: 665-679
47. Kawakami Y, Eliyahu S, Delgado CH, Robbins PF, Rivoltini L, Topalian SL, Miki T, Rosenberg SA: Cloning of the gene coding for a shared human melanoma antigen recognized by autologous T cells infiltrating into tumor. Proc Natl Acad Sci USA 1994, 91:3515-3519
48. Kirkin AF, thor Straten P, Hansen MR, Barfoed A, Dzhandzhugazyan KN, Zeuthen J: Establishment of gp100 and MART-1/Melan-A-specific cytotoxic T lymphocyte clones using in vitro immunization against preselected highly immunogenic melanoma cell clones. Cancer Immunol Immunother 1999, 48:239-246
49. Zhai Y, Yang JC, Kawakami Y, Spiess P, Wadsworth SC, Cardoza LM, Couture LA, Smith AE, Rosenberg SA: Antigen-specific tumor vaccines: development and characterization of recombinant adenoviruses encoding MART1 or gp100 for cancer therapy. J Immunol 1996, 156:700-710
50. Kawakami Y, Rosenberg SA: Immunobiology of human melanoma antigens MART-1 and gp100 and their use for immuno-gene therapy. Int Rev Immunol 1997, 14:173-192
51. Rosenberg SA, Zhai Y, Yang JC, Schwartzentruber DJ, Hwu P, Marincola FM, Topalian SL, Restifo NP, Seipp CA, Einhorn JH, Roberts B, White DE: Immunizing patients with metastatic melanoma using recombinant adenoviruses encoding MART-1 or gp100 melanoma antigens. J Natl Cancer Inst 1998, 90:1894-1900
52. Dudley ME, Wunderlich JR, Robbins PF, Yang JC, Hwu P, Schwartzentruber DJ, Topalian SL, Sherry R, Restifo NP, Hubicki AM, Robinson MR, Raffeld M, Duray P, Seipp CA, Rogers-Freezer L, Morton KE, Mavroukakis SA, White DE, Rosenberg SA: Cancer regression and autoimmunity in patients after clonal repopulation with antitumor lymphocytes. Science 2002, 298:850-854
53. Selzer E, Wacheck V, Lucas T, Heere-Ress E, Wu M, Wellbaecher KN, Schlegel W, Valent P, Wrba F, Pehamberger H, Fisher D, Jansen B: The melanocyte-specific isoform of the microphthalmia transcription factor affects the phenotype of human melanoma. Cancer Res 2002, 62:2098-2103
54. Marincola FM, Hijazi YM, Fetsch P, Salgaller ML, Rivoltini L, Cormier J, Simonis TB, Duray PH, Herlyn M, Kawakami Y, Rosenberg SA: Analysis of expression of the melanoma-associated antigens MART-1 and gp100 in metastatic melanoma cell lines and in in situ lesions. J Immunother Emphasis Tumor Immunol 1996, 19:192-205
55. Hofbauer GF, Kamarashev J, Geertsen R, Boni R, Dummer R: Melan A/MART-1 immunoreactivity in formalin-fixed, paraffin-embedded primary and metastatic melanoma: frequency and distribution. Melanoma Res 1998, 8:337-343
56. McGill GG, Horstmann M, Widlund HR, Du J, Motyckova G, Nishimura EK, Lin YL, Ramaswamy S, Avery W, Ding HF, Jordan SA, Jackson IJ, Korsmeyer SJ, Golub TR, Fisher DE: Bcl2 regulation by the melanocyte master regulator Mitf modulates lineage survival and melanoma cell viability. Cell 2002, 109:707-718
57. Wu M, Hemesath TJ, Takemoto CM, Horstmann MA, Wells AG, Price ER, Fisher DZ, Fisher DE: c-Kit triggers dual phosphorylations, which couple activation and degradation of the essential melanocyte factor Mi. Genes Dev 2000, 14:301-312
58. Hemesath TJ, Price ER, Takemoto C, Badalian T, Fisher DE: MAP kinase links the transcription factor microphthalmia to c-Kit signalling in melanocytes. Nature 1998, 391:298-301
59. Motyckova G, Weilbaecher KN, Horstmann M, Rieman DJ, Fisher DZ, Fisher DE: Linking osteopetrosis and pycnodysostosis: regulation of cathepsin K expression by the microphthalmia transcription factor family Proc Natl Acad Sci USA 2001, 98:5798-5803
60. Staunton JE, Slonim DK, Coller HA, Tamayo P, Angelo MJ, Park J, Scherf U, Lee JK, Reinhold WO, Weinstein JN, Mesirov JP, Lander ES, Golub TR: Chemosensitivity prediction by transcriptional profiling. Proc Natl Acad Sci USA 2001, 98:10787-10792
61. Ramaswamy S, Tamayo P, Rifkin R, Mukherjee S, Yeang CH, Angelo M, Ladd C, Reich M, Latulippe E, Mesirov JP, Poggio T, Gerald W, Loda M, Lander ES, Golub TR: Multiclass cancer diagnosis using tumor gene expression signatures. Proc Natl Acad Sci USA 2001, 98:15149-15154
62. Kawakami Y, Suzuki Y, Shofuda T, Kiniwa Y, Inozume T, Dan K, Sakurai T, Fujita T: T-cell immune responses against melanoma and melanocytes in cancer and autoimmunity. Pigment Cell Res 2000, 13(Suppl 8):163-169
63. Castelli C, Rivoltini L, Andreola G, Carrabba M, Renkvist N, Parmiani G: T-cell recognition of melanoma-associated antigens. J Cell Physiol 2000, 182:323-331
64. Aksan I, Goding CR: Targeting the microphthalmia basic helix-loophelix-leucine zipper transcription factor to a subset of E-box elements in vitro and in vivo. Mol Cell Biol 1998, 18:6930-6938
65. Butterfield LH, Stoll TC, Lau R, Economou JS: Cloning and analysis of MART-1/Melan-A human melanoma antigen promoter regions. Gene 1997, 191:129-134
66. Verastegui C, Bille K, Ortonne JP, Ballotti R: Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. J Biol Chem 2000, 275:30757-30760
67. Lee M, Goodall J, Verastegui C, Ballotti R, Goding CR: Direct regulation of the microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2. J Biol Chem 2000, 275:37978-37983
68. Bondurand N, Pingault V, Goerich DE, Lemort N, Sock E, Caignec CL, Wegner M, Goossens M: Interaction among SOX10, PAX3, and MITF three genes altered in Waardenburg syndrome. Hum Mol Genet 2000, 9:1907-1917
69. Eisen T, Easty DJ, Bennett DC, Goding CR: The POU domain transcription factor Brn-2: elevated expression in malignant melanoma and regulation of melanocyte-specific gene expression. Oncogene 1995, 11:2157-2164
70. Thomson JA, Murphy K, Baker E, Sutherland GR, Parsons PG, Sturm RA, Thomson F: The brn-2 gene regulates the melanocytic phenotype and tumorigenic potential of human melanoma cells. Oncogene 1995, 11:691-700
71. Price ER, Horstmann MA, Wells AG, Weilbaecher KN, Takemoto CM, Landis MW, Fisher DE: α-Melanocyte-stimulating hormone signaling regulates expression of microphthalmia, a gene deficient in Waardenburg syndrome. J Biol Chem 1998, 273:33042-33047
72. Bertolotto C, Abbe P, Hemesath TJ, Bille K, Fisher DE, Ortonne JP, Ballotti R: Microphthalmia gene product as a signal transducer in cAMP-induced differentiation of melanocytes. J Cell Biol 1998, 142: 827-835
73. Busca R, Ballotti R: Cyclic AMP a key messenger in the regulation of skin pigmentation. Pigment Cell Res 2000, 13:60-69
74. Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W, Davis N, Dicks E, Ewing R, Floyd Y, Gray K, Hall S, Hawes R, Hughes J, Kosmidou V, Menzies A, Mould C, Parker A, Stevens C, Watt S, Hooper S, Wilson R, Jayatilake H, Gusterson BA, Cooper C, Shipley J, Hargrave D, Pritchard-Jones K, Maitland N, Chenevix-Trench G, Riggins GJ, Bigner DD, Palmieri G, Cossu A, Flanagan A, Nicholson A, Ho JW, Leung SY, Yuen ST, Weber BL, Seigler HF, Darrow TL, Paterson H, Marais R, Marshall CJ, Wooster R, Stratton MR, Futreal PA: Mutations of the BRAF gene in human cancer Nature 2002, 417:949-954
75. Golub TR, Slonim DK, Tamayo P, Huard C, Gaasenbeek M, Mesirov JP, Coller H, Loh ML, Downing JR, Caligiuri MA, Bloomfield CD, Lander ES: Molecular classification of cancer: class discovery and class prediction by gene expression monitoring. Science 1999, 286: 531-537
76. Halaban R, Bohm M, Dotto P, Moellmann G, Cheng E, Zhang Y: Growth regulatory proteins that repress differentiation markers in melanocytes also down-regulate the transcription factor microphthalmia. J Invest Dermatol 1996, 106:1266-1272