Transcriptional Regulation in Melanoma

Hematology/Oncology Clinics of North America

Volumn 23, Issue 3, 2009, Pages 447-465

  Mitra, Devarati ^a   Fisher, David E ^b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b Cutaneous Biology Research Center   (United States)

Author keywords

Melanocyte survival; Melanoma; Microphthalmia associated transcription factor; Therapeutic opportunities in melanoma; Transcriptional regulation

Indexed keywords

HISTONE DEACETYLASE INHIBITOR; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; STEM CELL FACTOR; TRANSCRIPTION FACTOR 7; TRANSCRIPTION FACTOR PAX3;

CANCER DIAGNOSIS; CELL MATURATION; CELL PROLIFERATION; CELL SURVIVAL; CYTOTOXICITY; DOWN REGULATION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; MELANOCYTE; MELANOMA; NEURAL CREST CELL; NONHUMAN; PRIORITY JOURNAL; PROGNOSIS; REVIEW; TRANSCRIPTION REGULATION;

ANTINEOPLASTIC AGENTS; CELL DIFFERENTIATION; CELL SURVIVAL; DRUG DELIVERY SYSTEMS; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; MELANINS; MELANOCYTES; MELANOMA; MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; NEOPLASM PROTEINS; NEURAL CREST; RNA, MESSENGER; RNA, NEOPLASM; TRANSCRIPTION, GENETIC; WAARDENBURG'S SYNDROME;

EID: 65749085328     PISSN: 08898588     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hoc.2009.03.003     Document Type: Review

References (106)

1. American Cancer Society. Cancer facts and figures, 2008 (2008), American Cancer Society, Washington, DC
2. Levy C., Khaled M., and Fisher D.E. MITF: master regulator of melanocyte development and melanoma oncogene. Trends Mol Med 12 9 (2006) 406-414
3. Steingrimsson E., Copeland N.G., and Jenkins N.A. Melanocytes and the microphthalmia transcription factor network. Annu Rev Genet 38 (2004) 365-411
4. The neural crest. In: Le Douarin N.M., and KC (Eds). Developmental and cell biology series. 2nd edition (1999), Cambridge University Press, Cambridge, UK
5. Park Hee-Young P.M., Lee J., and Yaar M. Biology of melanocytes. In: Wolff K., GL, Katz S.I., et al. (Eds). Fitzpatrick's dermatology in general medicine. 7th edition (2008), McGraw-Hill, New York
6. Cornell R.A., and Eisen J.S. Delta/Notch signaling promotes formation of zebrafish neural crest by repressing Neurogenin 1 function. Development 129 11 (2002) 2639-2648
7. Moriyama M., Osawa M., Mak S.S., et al. Notch signaling via Hes1 transcription factor maintains survival of melanoblasts and melanocyte stem cells. J Cell Biol 173 3 (2006) 333-339
8. Aubin-Houzelstein G., Djian-Zaouche J., Bernex F., et al. Melanoblasts' proper location and timed differentiation depend on Notch/RBP-J signaling in postnatal hair follicles. J Invest Dermatol 128 11 (2008) 2686-2695
9. Bedogni B., Warneke J.A., Nickoloff B.J., et al. Notch1 is an effector of Akt and hypoxia in melanoma development. J Clin Invest 118 11 (2008) 3660-3670
10. Hoek K., Rimm D.L., Williams K.R., et al. Expression profiling reveals novel pathways in the transformation of melanocytes to melanomas. Cancer Res 64 15 (2004) 5270-5282
11. Balint K., Xiao M., Pinnix C.C., et al. Activation of Notch1 signaling is required for beta-catenin-mediated human primary melanoma progression. J Clin Invest 115 11 (2005) 3166-3176
12. Liu Z.J., Xiao M., Balint K., et al. Notch1 signaling promotes primary melanoma progression by activating mitogen-activated protein kinase/phosphatidylinositol 3-kinase-Akt pathways and up-regulating N-cadherin expression. Cancer Res 66 8 (2006) 4182-4190
13. Klaus A., and Birchmeier W. Wnt signalling and its impact on development and cancer. Nat Rev Cancer 8 5 (2008) 387-398
14. Dorsky R.I., Moon R.T., and Raible D.W. Control of neural crest cell fate by the Wnt signalling pathway. Nature 396 6709 (1998) 370-373
15. Dorsky R.I., Raible D.W., and Moon R.T. Direct regulation of nacre, a zebrafish MITF homolog required for pigment cell formation, by the Wnt pathway. Genes Dev 14 2 (2000) 158-162
16. Takeda K., Yasumoto K., Takada R., et al. Induction of melanocyte-specific microphthalmia-associated transcription factor by Wnt-3a. J Biol Chem 275 19 (2000) 14013-14016
17. Yasumoto K., Takeda K., Saito H., et al. Microphthalmia-associated transcription factor interacts with LEF-1, a mediator of Wnt signaling. EMBO J 21 11 (2002) 2703-2714
18. Saito H., Yasumoto K., Takeda K., et al. Melanocyte-specific microphthalmia-associated transcription factor isoform activates its own gene promoter through physical interaction with lymphoid-enhancing factor 1. J Biol Chem 277 32 (2002) 28787-28794
19. Schepsky A., Bruser K., Gunnarsson G.J., et al. The microphthalmia-associated transcription factor Mitf interacts with beta-catenin to determine target gene expression. Mol Cell Biol 26 23 (2006) 8914-8927
20. Rubinfeld B., Robbins P., El-Gamil M., et al. Stabilization of beta-catenin by genetic defects in melanoma cell lines. Science 275 5307 (1997) 1790-1792
21. Rimm D.L., Caca K., Hu G., et al. Frequent nuclear/cytoplasmic localization of beta-catenin without exon 3 mutations in malignant melanoma. Am J Pathol 154 2 (1999) 325-329
22. Widlund H.R., Horstmann M.A., Price E.R., et al. β-Catenin-induced melanoma growth requires the downstream target Microphthalmia-associated transcription factor. J Cell Biol 158 6 (2002) 1079-1087
23. Kunisada T., Yoshida H., Yamazaki H., et al. Transgene expression of steel factor in the basal layer of epidermis promotes survival, proliferation, differentiation and migration of melanocyte precursors. Development 125 15 (1998) 2915-2923
24. Ezoe K., Holmes S.A., Ho L., et al. Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. Am J Hum Genet 56 1 (1995) 58-66
25. Hemesath T.J., Price E.R., Takemoto C., et al. MAP kinase links the transcription factor Microphthalmia to c-Kit signalling in melanocytes. Nature 391 6664 (1998) 298-301
26. Price E.R., Horstmann M.A., Wells A.G., et al. α-Melanocyte-stimulating hormone signaling regulates expression of microphthalmia, a gene deficient in Waardenburg syndrome. J Biol Chem 273 49 (1998) 33042-33047
27. Wu M., Hemesath T.J., Takemoto C.M., et al. c-Kit triggers dual phosphorylations, which couple activation and degradation of the essential melanocyte factor Mi. Genes Dev 14 3 (2000) 301-312
28. Curtin J.A., Busam K., Pinkel D., et al. Somatic activation of KIT in distinct subtypes of melanoma. J Clin Oncol 24 26 (2006) 4340-4346
29. Hodi F.S., Friedlander P., Corless C.L., et al. Major response to imatinib mesylate in KIT-mutated melanoma. J Clin Oncol 26 12 (2008) 2046-2051
30. Lutzky J., Bauer J., and Bastian B.C. Dose-dependent, complete response to imatinib of a metastatic mucosal melanoma with a K642E KIT mutation. Pigment Cell Melanoma Res 21 4 (2008) 492-493
31. Verastegui C., Bille K., Ortonne J.P., et al. Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. J Biol Chem 275 40 (2000) 30757-30760
32. Lang D., Lu M.M., Huang L., et al. Pax3 functions at a nodal point in melanocyte stem cell differentiation. Nature 433 7028 (2005) 884-887
33. Huber W.E., Price E.R., Widlund H.R., et al. A tissue-restricted cAMP transcriptional response: SOX10 modulates α-melanocyte-stimulating hormone-triggered expression of microphthalmia-associated transcription factor in melanocytes. J Biol Chem 278 46 (2003) 45224-45230
34. Scholl F.A., Kamarashev J., Murmann O.V., et al. PAX3 is expressed in human melanomas and contributes to tumor cell survival. Cancer Res 61 3 (2001) 823-826
35. Reid K., Turnley A.M., Maxwell G.D., et al. Multiple roles for endothelin in melanocyte development: regulation of progenitor number and stimulation of differentiation. Development 122 12 (1996) 3911-3919
36. Pavan W.J., and Tilghman S.M. Piebald lethal (sl) acts early to disrupt the development of neural crest-derived melanocytes. Proc Natl Acad Sci U S A 91 15 (1994) 7159-7163
37. Baynash A.G., Hosoda K., Giaid A., et al. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79 7 (1994) 1277-1285
38. Bittner M., Meltzer P., Chen Y., et al. Molecular classification of cutaneous malignant melanoma by gene expression profiling. Nature 406 6795 (2000) 536-540
39. Van Raamsdonk C.D., Bezrookove V., Green G., et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature 457 7229 (2009) 599-602
40. Opdecamp K., Nakayama A., Nguyen M.T., et al. Melanocyte development in vivo and in neural crest cell cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor. Development 124 12 (1997) 2377-2386
41. Hornyak T.J., Hayes D.J., Chiu L.Y., et al. Transcription factors in melanocyte development: distinct roles for Pax-3 and Mitf. Mech Dev 101 1-2 (2001) 47-59
42. Hertwig P. Neue Mutationen und Kopplungsgruppen bei der Hausmaus [New mutations and linkage groups in the house mouse]. Z Indukt Abstamm Vererbungsl 80 (1942) 220-246 [in German]
43. Stechschulte D.J., Sharma R., Dileepan K.N., et al. Effect of the mi allele on mast cells, basophils, natural killer cells, and osteoclasts in C57Bl/6J mice. J Cell Physiol 132 3 (1987) 565-570
44. Hodgkinson C.A., Moore K.J., Nakayama A., et al. Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell 74 2 (1993) 395-404
45. Hemesath T.J., Steingrimsson E., McGill G., et al. microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family. Genes Dev 8 22 (1994) 2770-2780
46. Steingrimsson E., Moore K.J., Lamoreux M.L., et al. Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Nat Genet 8 3 (1994) 256-263
47. Waardenburg P.J. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet 3 3 (1951) 195-253
48. Read A.P., and Newton V.E. Waardenburg syndrome. J Med Genet 34 8 (1997) 656-665
49. Edery P., Attie T., Amiel J., et al. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 12 4 (1996) 442-444
50. Puffenberger E.G., Hosoda K., Washington S.S., et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79 7 (1994) 1257-1266
51. Tassabehji M., Newton V.E., and Read A.P. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet 8 3 (1994) 251-255
52. Hughes A.E., Newton V.E., Liu X.Z., et al. A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. Nat Genet 7 4 (1994) 509-512
53. Amiel J., Watkin P.M., Tassabehji M., et al. Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). Clin Dysmorphol 7 1 (1998) 17-20
54. Sanchez-Martin M., Rodriguez-Garcia A., Perez-Losada J., et al. SLUG (SNAI2) deletions in patients with Waardenburg disease. Hum Mol Genet 11 25 (2002) 3231-3236
55. Price E.R., and Fisher D.E. Sensorineural deafness and pigmentation genes: melanocytes and the Mitf transcriptional network. Neuron 30 1 (2001) 15-18
56. Hershey C.L., and Fisher D.E. Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform. Gene 347 1 (2005) 73-82
57. Chin L., Garraway L.A., and Fisher D.E. Malignant melanoma: genetics and therapeutics in the genomic era. Genes Dev 20 16 (2006) 2149-2182
58. Widlund H.R., and Fisher D.E. Microphthalamia-associated transcription factor: a critical regulator of pigment cell development and survival. Oncogene 22 20 (2003) 3035-3041
59. Tachibana M., Takeda K., Nobukuni Y., et al. Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics. Nat Genet 14 1 (1996) 50-54
60. Aksan I., and Goding C.R. Targeting the microphthalmia basic helix-loop-helix-leucine zipper transcription factor to a subset of E-box elements in vitro and in vivo. Mol Cell Biol 18 12 (1998) 6930-6938
61. Cui R., Widlund H.R., Feige E., et al. Central role of p53 in the suntan response and pathologic hyperpigmentation. Cell 128 5 (2007) 853-864
62. Bentley N.J., Eisen T., and Goding C.R. Melanocyte-specific expression of the human tyrosinase promoter: activation by the microphthalmia gene product and role of the initiator. Mol Cell Biol 14 12 (1994) 7996-8006
63. Yasumoto K., Yokoyama K., Shibata K., et al. Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene. Mol Cell Biol 14 12 (1994) 8058-8070
64. Veis D.J., Sorenson C.M., Shutter J.R., et al. Bcl-2-deficient mice demonstrate fulminant lymphoid apoptosis, polycystic kidneys, and hypopigmented hair. Cell 75 2 (1993) 229-240
65. Nishimura E.K., Granter S.R., and Fisher D.E. Mechanisms of hair graying: incomplete melanocyte stem cell maintenance in the niche. Science 307 5710 (2005) 720-724
66. McGill G.G., Horstmann M., Widlund H.R., et al. Bcl2 regulation by the melanocyte master regulator Mitf modulates lineage survival and melanoma cell viability. Cell 109 6 (2002) 707-718
67. McGill G.G., Haq R., Nishimura E.K., et al. c-Met expression is regulated by Mitf in the melanocyte lineage. J Biol Chem 281 15 (2006) 10365-10373
68. Beuret L., Flori E., Denoyelle C., et al. Up-regulation of MET expression by alpha-melanocyte-stimulating hormone and MITF allows hepatocyte growth factor to protect melanocytes and melanoma cells from apoptosis. J Biol Chem 282 19 (2007) 14140-14147
69. Du J., Widlund H.R., Horstmann M.A., et al. Critical role of CDK2 for melanoma growth linked to its melanocyte-specific transcriptional regulation by MITF. Cancer Cell 6 6 (2004) 565-576
70. Carreira S., Liu B., and Goding C.R. The gene encoding the T-box factor Tbx2 is a target for the microphthalmia-associated transcription factor in melanocytes. J Biol Chem 275 29 (2000) 21920-21927
71. Vance K.W., Carreira S., Brosch G., et al. Tbx2 is overexpressed and plays an important role in maintaining proliferation and suppression of senescence in melanomas. Cancer Res 65 6 (2005) 2260-2268
72. Carreira S., Goodall J., Aksan I., et al. Mitf cooperates with Rb1 and activates p21Cip1 expression to regulate cell cycle progression. Nature 433 7027 (2005) 764-769
73. Loercher A.E., Tank E.M., Delston R.B., et al. MITF links differentiation with cell cycle arrest in melanocytes by transcriptional activation of INK4A. J Cell Biol 168 1 (2005) 35-40
74. Hussussian C.J., Struewing J.P., Goldstein A.M., et al. Germline p16 mutations in familial melanoma. Nat Genet 8 1 (1994) 15-21
75. 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 8 1 (1994) 23-26
76. Carreira S., Goodall J., Denat L., et al. Mitf regulation of Dia1 controls melanoma proliferation and invasiveness. Genes Dev 20 24 (2006) 3426-3439
77. Busca R., Berra E., Gaggioli C., et al. Hypoxia-inducible factor 1{alpha} is a new target of microphthalmia-associated transcription factor (MITF) in melanoma cells. J Cell Biol 170 1 (2005) 49-59
78. Miller A.J., Du J., Rowan S., et al. Transcriptional regulation of the melanoma prognostic marker melastatin (TRPM1) by MITF in melanocytes and melanoma. Cancer Res 64 2 (2004) 509-516
79. Duncan L.M., Deeds J., Hunter J., et al. Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis. Cancer Res 58 7 (1998) 1515-1520
80. Wellbrock C., Rana S., Paterson H., et al. Oncogenic BRAF regulates melanoma proliferation through the lineage specific factor MITF. PLoS ONE 3 7 (2008) e2734
81. Cook A.L., Donatien P.D., Smith A.G., et al. Human melanoblasts in culture: expression of BRN2 and synergistic regulation by fibroblast growth factor-2, stem cell factor, and endothelin-3. J Invest Dermatol 121 5 (2003) 1150-1159
82. Bemis L.T., Chen R., Amato C.M., et al. MicroRNA-137 targets microphthalmia-associated transcription factor in melanoma cell lines. Cancer Res 68 5 (2008) 1362-1368
83. Grabacka M., Placha W., Urbanska K., et al. PPAR gamma regulates MITF and beta-catenin expression and promotes a differentiated phenotype in mouse melanoma S91. Pigment Cell Melanoma Res 21 3 (2008) 388-396
84. Jacquemin P., Lannoy V.J., O'Sullivan J., et al. The transcription factor onecut-2 controls the microphthalmia-associated transcription factor gene. Biochem Biophys Res Commun 285 5 (2001) 1200-1205
85. Takeda K., Takemoto C., Kobayashi I., et al. Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance. Hum Mol Genet 9 1 (2000) 125-132
86. Levy C., Nechushtan H., and Razin E. A new role for the STAT3 inhibitor, PIAS3: a repressor of microphthalmia transcription factor. J Biol Chem 277 3 (2002) 1962-1966
87. Miller A.J., Levy C., Davis I.J., et al. Sumoylation of MITF and its related family members TFE3 and TFEB. J Biol Chem 280 1 (2005) 146-155
88. Larribere L., Hilmi C., Khaled M., et al. The cleavage of microphthalmia-associated transcription factor, MITF, by caspases plays an essential role in melanocyte and melanoma cell apoptosis. Genes Dev 19 17 (2005) 1980-1985
89. Sato S., Roberts K., Gambino G., et al. CBP/p300 as a co-factor for the Microphthalmia transcription factor. Oncogene 14 25 (1997) 3083-3092
90. de la Serna I.L., Ohkawa Y., Higashi C., et al. The microphthalmia-associated transcription factor requires SWI/SNF enzymes to activate melanocyte-specific genes. J Biol Chem 281 29 (2006) 20233-20241
91. Garraway L.A., Widlund H.R., Rubin M.A., et al. Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma. Nature 436 7047 (2005) 117-122
92. Wellbrock C., and Marais R. Elevated expression of MITF counteracts B-RAF-stimulated melanocyte and melanoma cell proliferation. J Cell Biol 170 5 (2005) 703-708
93. King R., Weilbaecher K.N., McGill G., et al. Microphthalmia transcription factor. A sensitive and specific melanocyte marker for MelanomaDiagnosis. Am J Pathol 155 3 (1999) 731-738
94. Salti G.I., Manougian T., Farolan M., et al. Micropthalmia transcription factor: a new prognostic marker in intermediate-thickness cutaneous malignant melanoma. Cancer Res 60 18 (2000) 5012-5016
95. Duncan L.M., Deeds J., Cronin F.E., et al. Melastatin expression and prognosis in cutaneous malignant melanoma. J Clin Oncol 19 2 (2001) 568-576
96. Ugurel S., Houben R., Schrama D., et al. Microphthalmia-associated transcription factor gene amplification in metastatic melanoma is a prognostic marker for patient survival, but not a predictive marker for chemosensitivity and chemotherapy response. Clin Cancer Res 13 21 (2007) 6344-6350
97. Hoek K.S., Schlegel N.C., Brafford P., et al. Metastatic potential of melanomas defined by specific gene expression profiles with no BRAF signature. Pigment Cell Res 19 4 (2006) 290-302
98. Yokoyama S., Feige E., Poling L.L., et al. Pharmacologic suppression of MITF expression via HDAC inhibitors in the melanocyte lineage. Pigment Cell Melanoma Res 21 4 (2008) 457-463
99. Barker N., and Clevers H. Mining the Wnt pathway for cancer therapeutics. Nat Rev Drug Discov 5 12 (2006) 997-1014
100. Liu S., Breit S., Danckwardt S., et al. Downregulation of Notch signaling by gamma-secretase inhibition can abrogate chemotherapy-induced apoptosis in T-ALL cell lines. Ann Hematol (2008) 10.1007/s00277-008-0646-x
101. Tsai J., Lee J.T., Wang W., et al. Discovery of a selective inhibitor of oncogenic B-Raf kinase with potent antimelanoma activity. Proc Natl Acad Sci U S A 105 8 (2008) 3041-3046
102. Zou H.Y., Li Q., Lee J.H., et al. An orally available small-molecule inhibitor of c-Met, PF-2341066, exhibits cytoreductive antitumor efficacy through antiproliferative and antiangiogenic mechanisms. Cancer Res 67 9 (2007) 4408-4417
103. Davis I.J., Kim J.J., Ozsolak F., et al. Oncogenic MITF dysregulation in clear cell sarcoma: defining the MiT family of human cancers. Cancer Cell 9 6 (2006) 473-484
104. Davis I.J., and Fisher D.E. MiT transcription factor associated malignancies in man. Cell Cycle 6 14 (2007) 1724-1729
105. Tsuda M., Davis I.J., Argani P., et al. TFE3 fusions activate MET signaling by transcriptional up-regulation, defining another class of tumors as candidates for therapeutic MET inhibition. Cancer Res 67 3 (2007) 919-929
106. Cragg M.S., Jansen E.S., Cook M., et al. Treatment of B-RAF mutant human tumor cells with a MEK inhibitor requires Bim and is enhanced by a BH3 mimetic. J Clin Invest 118 11 (2008) 3651-3659