MITF critical regulator of the melanocyte lineage

From Melanocytes to Melanoma: The Progression to Malignancy

Volumn , Issue , 2006, Pages 51-69

  Feige, Erez ^a   Poling, Laura L ^a   Fisher, David E ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

Author keywords

melanocyte; melanoma; Microphthalmia; pigmentation; transcription

Indexed keywords

EID: 33747882338     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-59259-994-3_3     Document Type: Chapter

References (164)

1. Hallsson JH, Haflidadottir BS, Stivers C, et al. The basic helix-loop-helix leucine zipper transcription factor mitf is conserved in Drosophila and functions in eye development. Genetics 2004; 167(1):233-241.
2. Kumasaka M, Sato H, Sato S, Yajima I, Yamamoto H. Isolation and developmental expression of Mitf in Xenopus laevis. Dev Dyn 2004;230(1):107-113.
3. Lister JA, Robertson CP, Lepage T, Johnson SL, Raible DW. Nacre encodes a zebrafish microphthalmia-related protein that regulates neural-crest-derived pigment cell fate. Development 1999;126(17):3757-3767.
4. Mochii M, Mazaki Y, Mizuno N, Hayashi H, Eguchi G. Role of Mitf in differentiation and transdifferentiation of chicken pigmented epithelial cell. Dev Biol 1998;193(1):47-62.
5. Hodgkinson CA, Moore KJ, 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 1993;74(2):395-404.
6. Tachibana M, Perez-Jurado LA, Nakayama A, et al. Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3. Hum Mol Genet 1994;3(4):553-557.
7. Opdecamp K, Nakayama A, Nguyen MT, Hodgkinson CA, Pavan WJ, Arnheiter H. Melanocyte development in vivo and in neural crest cell cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor. Development 1997;124(12):2377-2386.
8. Goding CR. Mitf from neural crest to melanoma: signal transduction and transcription in the melano-cyte lineage. Genes Dev 2000;14(14):1712-1728.
9. Hornyak TJ, Hayes DJ, Chiu LY, Ziff EB. Transcription factors in melanocyte development: distinct roles for Pax-3 and Mitf. Mech Dev 2001;101(1-2):47-59.
10. Moore KJ. Insight into the microphthalmia gene. Trends Genet 1995;11(11):442-448.
11. Hughes MJ, Lingrel JB, Krakowsky JM, Anderson KP. A helix-loop-helix transcription factor-like gene is located at the mi locus. J Biol Chem 1993;268(28):20, 687-20, 690.
12. Steingrimsson E, Moore KJ, Lamoreux ML, et al. Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Nat Genet 1994; 8(3):256-263.
13. Tassabehji M, Newton VE, Read AP. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet 1994;8(3):251-255.
14. Rehli M, Den Elzen N, Cassady AI, Ostrowski MC, Hume DA. Cloning and characterization of the murine genes for bHLH-ZIP transcription factors TFEC and TFEB reveal a common gene organization for all MiT subfamily members. Genomics 1999;56(1):111-120.
15. Hemesath TJ, Steingrimsson E, McGill G, et al. Microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family. Genes Dev 1994;8(22):2770-2780.
16. Fisher DE, Carr CS, Parent LA, Sharp PA. TFEB has DNA-binding and oligomerization properties of a unique helix-loop-helix/leucine-zipper family. Genes Dev 1991;5(12A):2342-2352.
17. Zhao GQ, Zhao Q, Zhou X, Mattei MG, de Crombrugghe B. TFEC, a basic helix-loop-helix protein, forms heterodimers with TFE3 and inhibits TFE3-dependent transcription activation. Mol Cell Biol 1993;13(8):4505-4512.
18. Takemoto CM, Yoon YJ, Fisher DE. The identification and functional characterization of a novel mast cell isoform of the microphthalmia-associated transcription factor. J Biol Chem 2002;277(33): 30, 244-30, 252.
19. Mansky KC, Sulzbacher S, Purdom G, et al. The microphthalmia transcription factor and the related helix-loop-helix zipper factors TFE-3 and TFE-C collaborate to activate the tartrate-resistant acid phosphatase promoter. J Leukoc Biol 2002;71(2):304-310.
20. Weilbaecher KN, Hershey CL, Takemoto CM, et al. Age-resolving osteopetrosis: a rat model implicating microphthalmia and the related transcription factor TFE3. J Exp Med 1998;187(5):775-785.
21. Steingrimsson E, Tessarollo L, Pathak B, et al. Mitf and Tfe3, two members of the Mitf-Tfe family of bHLH-Zip transcription factors, have important but functionally redundant roles in osteoclast development. Proc Natl Acad Sci USA 2002;99(7):4477-4482.
22. Kuiper RP, Schepens M, Thijssen J, Schoenmakers EF, van Kessel AG. Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains. Nucleic Acids Res 2004;32(8):2315-2322.
23. Saito H, Yasumoto K, Takeda K, Takahashi K, Yamamoto H, Shibahara S. Microphthalmia-associ-ated transcription factor in the Wnt signaling pathway. Pigment Cell Res 2003;16(3):261-265.
24. Hallsson JH, Favor J, Hodgkinson C, et al. Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus. Genetics 2000;155(1):291-300.
25. Udono T, Yasumoto K, Takeda K, et al. Structural organization of the human microphthalmia-associated transcription factor gene containing four alternative promoters. Biochim Biophys Acta 2000;1491(1-3):205-219.
26. Yasumoto K, Amae S, Udono T, Fuse N, Takeda K, Shibahara S. A big gene linked to small eyes encodes multiple Mitf isoforms: many promoters make light work. Pigment Cell Res 1998;11(6):329-336.
27. Shibahara S, Yasumoto K, Amae S, et al. Regulation of pigment cell-specific gene expression by MITF. Pigment Cell Res 2000;13(suppl 8):98-102.
28. Fuse N, Yasumoto K, Takeda K, et al. Molecular cloning of cDNA encoding a novel microphthalmia-associated transcription factor isoform with a distinct amino-terminus. J Biochem (Tokyo) 1999;126(6):1043-1051.
29. Amae S, Fuse N, Yasumoto K, et al. Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium. Biochem Biophys Res Commun 1998;247(3):710-715.
30. Nakayama A, Nguyen MT, Chen CC, Opdecamp K, Hodgkinson CA, Arnheiter H. Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently. Mech Dev 1998;70(1-2):155-166.
31. Takeda K, Yasumoto K, Kawaguchi N, et al. Mitf-D, a newly identified isoform, expressed in the retinal pigment epithelium and monocyte-lineage cells affected by Mitf mutations. Biochim Biophys Acta 2002;1574(1):15-23.
32. Oboki K, Morii E, Kataoka TR, Jippo T, Kitamura Y. Isoforms of mi transcription factor preferentially expressed in cultured mast cells of mice. Biochem Biophys Res Commun 2002;290(4): 1250-1254.
33. Fuse N, Yasumoto K, Suzuki H, Takahashi K, Shibahara S. Identification of a melanocyte-type promoter of the microphthalmia-associated transcription factor gene. Biochem Biophys Res Commun 1996;219(3):702-707.
34. Tachibana M, Kobayashi Y, Matsushima Y. Mouse models for four types of Waardenburg syndrome. Pigment Cell Res 2003;16(5):448-454.
35. Tachibana M. Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A. Pigment Cell Res 1997;10(1-2):25-33.
36. Nobukuni Y, Watanabe A, Takeda K, Skarka H, Tachibana M. Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A. Am J Hum Genet 1996;59(1):76-83.
37. Smith SD, Kelley PM, Kenyon JB, Hoover D. Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med Genet 2000;37(6):446-448.
38. 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(1):17-20.
39. Tassabehji M, Newton VE, Liu XZ, et al. The mutational spectrum in Waardenburg syndrome. Hum Mol Genet 1995;4(11):2131-2137.
40. Tassabehji M, Read AP, Newton VE, et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 1992;355(6361):635-636.
41. Baldwin CT, Hoth CF, Amos JA, da-Silva EO, Milunsky A. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 1992;355(6361):637-638.
42. Pingault V, Bondurand N, Kuhlbrodt K, et al. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 1998;18(2):171-173.
43. Puffenberger EG, Hosoda K, Washington SS, et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 1994;79(7):1257-1266.
44. Edery P, Attie T, Amiel J, et al. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 1996;12(4):442-444.
45. Hofstra RM, Osinga J, Tan-Sindhunata G, et al. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet 1996;12(4):445-447.
46. Touraine RL, Attie-Bitach T, Manceau E, et al. Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. Am J Hum Genet 2000;66(5):1496-1503.
47. Kuhlbrodt K, Schmidt C, Sock E, et al. Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients. J Biol Chem 1998;273(36):23, 033-23, 038.
48. 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(12): 7996-8006.
49. 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(12):8058-8070.
50. Bertolotto C, Abbe P, Hemesath TJ, et al. Microphthalmia gene product as a signal transducer in cAMP-induced differentiation of melanocytes. J Cell Biol 1998;142(3):827-835.
51. Price ER, Horstmann MA, Wells AG, et al. Alpha-Melanocyte-stimulating hormone signaling regulates expression of microphthalmia, a gene deficient in Waardenburg syndrome. J Biol Chem 1998;273(49):33, 042-33, 047.
52. Mountjoy KG, Robbins LS, Mortrud MT, Cone RD. The cloning of a family of genes that encode the melanocortin receptors. Science 1992;257(5074):1248-1251.
53. Roesler WJ, Park EA, McFie PJ. Characterization of CCAAT/enhancer-binding protein alpha as a cyclic AMP-responsive nuclear regulator. J Biol Chem 1998;273(24):14, 950-14, 957.
54. Bertolotto C, Bille K, Ortonne JP, Ballotti R. Regulation of tyrosinase gene expression by cAMP in B16 melanoma cells involves two CATGTG motifs surrounding the TATA box: implication of the microphthalmia gene product. J Cell Biol 1996;134(3):747-755.
55. Aberdam E, Bertolotto C, Sviderskaya EV, et al. Involvement of microphthalmia in the inhibition of melanocyte lineage differentiation and of melanogenesis by agouti signal protein. J Biol Chem 1998;273(31):19, 560-19, 565.
56. Busca R, Ballotti R. Cyclic AMP a key messenger in the regulation of skin pigmentation. Pigment Cell Res 2000;13(2):60-69.
57. Huber WE, Price ER, Widlund HR, et al. A tissue-restricted cAMP transcriptional response: SOX10 modulates alpha-melanocyte-stimulating hormone-triggered expression of microphthalmia-associ-ated transcription factor in melanocytes. J Biol Chem 2003;278(46):45, 224-45, 230.
58. Bondurand N, Kobetz A, Pingault V, et al. Expression of the SOX10 gene during human development. FEBS Lett 1998;432(3):168-172.
59. Southard-Smith EM, Kos L, Pavan WJ. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat Genet 1998;18(1):60-64.
60. Herbarth B, Pingault V, Bondurand N, et al. Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. Proc Natl Acad Sci USA 1998; 95(9):5161-5165.
61. Bondurand N, Pingault V, Goerich DE, et al. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum Mol Genet 2000;9(13):1907-1917.
62. Mollaaghababa R, Pavan WJ. The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia. Oncogene 2003;22(20):3024-3034.
63. 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(48):37, 978-37, 983.
64. Potterf SB, Furumura M, Dunn KJ, Arnheiter H, Pavan WJ. Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. Hum Genet 2000;107(1):1-6.
65. 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(40): 30, 757-30, 760.
66. Watanabe K, Takeda K, Yasumoto K, et al. Identification of a distal enhancer for the melanocyte-specific promoter of the MITF gene. Pigment Cell Res 2002;15(3):201-211.
67. Watanabe A, Takeda K, Ploplis B, Tachibana M. Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. Nat Genet 1998;18(3):283-286.
68. Baldwin CT, Lipsky NR, Hoth CF, Cohen T, Mamuya W, Milunsky A. Mutations in PAX3 associated with Waardenburg syndrome type I. Hum Mutat 1994;3(3):205-211.
69. Widlund HR, Fisher DE. Microphthalamia-associated transcription factor: a critical regulator of pigment cell development and survival. Oncogene 2003;22(20):3035-3041.
70. Galibert MD, Yavuzer U, Dexter TJ, Goding CR. Pax3 and regulation of the melanocyte-specific tyrosinase-related protein-1 promoter. J Biol Chem 1999;274(38):26, 894-26, 900.
71. Epstein DJ, Vekemans M, Gros P. Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell 1991;67(4):767-774.
72. Kamaraju AK, Bertolotto C, Chebath J, Revel M. Pax3 down-regulation and shut-off of melano-genesis in melanoma B16/F10.9 by interleukin-6 receptor signaling. J Biol Chem 2002;277(17): 15, 132-15, 141.
73. Cadigan KM, Nusse R. Wnt signaling: a common theme in animal development. Genes Dev 1997;11(24):3286-3305.
74. Riese J, Yu X, Munnerlyn A, et al. LEF-1, a nuclear factor coordinating signaling inputs from wingless and decapentaplegic. Cell 1997;88(6):777-787.
75. Eastman Q, Grosschedl R. Regulation of LEF-1/TCF transcription factors by Wnt and other signals. Curr Opin Cell Biol 1999;11(2):233-240.
76. Behrens J, von Kries JP, Kuhl M, et al. Functional interaction of beta-catenin with the transcription factor LEF-1. Nature 1996;382(6592):638-642.
77. Huber O, Korn R, McLaughlin J, Ohsugi M, Herrmann BG, Kemler R. Nuclear localization of beta-catenin by interaction with transcription factor LEF-1. Mech Dev 1996;59(1):3-10.
78. Molenaar M, van de Wetering M, Oosterwegel M, et al. XTcf-3 transcription factor mediates beta-catenin-induced axis formation in Xenopus embryos. Cell 1996;86(3):391-399.
79. Saint-Jeannet JP, He X, Varmus HE, Dawid IB. Regulation of dorsal fate in the neuraxis by Wnt-1 and Wnt-3a. Proc Natl Acad Sci USA 1997;94(25):13, 713-13, 718.
80. Ikeya M, Lee SM, Johnson JE, McMahon AP, Takada S. Wnt signalling required for expansion of neural crest and CNS progenitors. Nature 1997;389(6654):966-970.
81. Dorsky RI, Moon RT, Raible DW. Control of neural crest cell fate by the Wnt signalling pathway. Nature 1998;396(6709):370-373.
82. Dunn KJ, Williams BO, Li Y, Pavan WJ. Neural crest-directed gene transfer demonstrates Wnt1 role in melanocyte expansion and differentiation during mouse development. Proc Natl Acad Sci USA 2000;97(18):10, 050-10, 055.
83. Jin EJ, Erickson CA, Takada S, Burrus LW. Wnt and BMP signaling govern lineage segregation of melanocytes in the avian embryo. Dev Biol 2001;233(1):22-37.
84. Dorsky RI, Raible DW, Moon RT. Direct regulation of nacre, a zebrafish MITF homolog required for pigment cell formation, by the Wnt pathway. Genes Dev 2000;14(2):158-162.
85. Takeda K, Yasumoto K, Takada R, et al. Induction of melanocyte-specific microphthalmia-associ-ated transcription factor by Wnt-3a. J Biol Chem 2000;275(19):14, 013-14, 016.
86. Larue L, Kumasaka M, Goding CR. Beta-catenin in the melanocyte lineage. Pigment Cell Res 2003;16(3):312-317.
87. Thomas KR, Capecchi MR. Targeted disruption of the murine int-1 proto-oncogene resulting in severe abnormalities in midbrain and cerebellar development. Nature 1990;346(6287):847-850.
88. Takada S, Stark KL, Shea MJ, Vassileva G, McMahon JA, McMahon AP. Wnt-3a regulates somite and tailbud formation in the mouse embryo. Genes Dev 1994;8(2):174-189.
89. Widlund HR, Horstmann MA, Price ER, et al. Beta-catenin-induced melanoma growth requires the downstream target Microphthalmia-associated transcription factor. J Cell Biol 2002;158(6): 1079-1087.
90. Rubinfeld B, Robbins P, El-Gamil M, Albert I, Porfiri E, Polakis P. Stabilization of beta-catenin by genetic defects in melanoma cell lines. Science 1997;275(5307):1790-1792.
91. Rimm DL, Caca K, Hu G, Harrison FB, Fearon ER. Frequent nuclear/cytoplasmic localization of beta-catenin without exon 3 mutations in malignant melanoma. Am J Pathol 1999;154(2):325-329.
92. Lerner AB, Shiohara T, Boissy RE, Jacobson KA, Lamoreux ML, Moellmann GE. A mouse model for vitiligo. J Invest Dermatol 1986;87(3):299-304.
93. Veis DJ, Sorenson CM, Shutter JR, Korsmeyer SJ. Bcl-2-deficient mice demonstrate fulminant lymphoid apoptosis, polycystic kidneys, and hypopigmented hair. Cell 1993;75(2):229-240.
94. Bouillet P, Cory S, Zhang LC, Strasser A, Adams JM. Degenerative disorders caused by Bcl-2 deficiency prevented by loss of its BH3-only antagonist Bim. Dev Cell 2001;1(5):645-653.
95. McGill GG, Horstmann M, Widlund HR, et al. Bcl2 regulation by the melanocyte master regulator Mitf modulates lineage survival and melanoma cell viability. Cell 2002;109(6):707-718.
96. Spritz RA. Molecular genetics of oculocutaneous albinism. Hum Mol Genet 1994;3 Spec No:1469-1475.
97. Halaban R, Moellmann G, Tamura A, et al. Tyrosinases of murine melanocytes with mutations at the albino locus. Proc Natl Acad Sci USA 1988;85(19):7241-7245.
98. Yokoyama T, Silversides DW, Waymire KG, Kwon BS, Takeuchi T, Overbeek PA. Conserved cysteine to serine mutation in tyrosinase is responsible for the classical albino mutation in laboratory mice. Nucleic Acids Res 1990;18(24):7293-7298.
99. Beermann F, Orlow SJ, Boissy RE, Schmidt A, Boissy YL, Lamoreux ML. Misrouting of tyrosinase with a truncated cytoplasmic tail as a result of the murine platinum (cp) mutation. Exp Eye Res 1995;61(5):599-607.
100. Oetting WS, Fryer JP, Shriram S, King RA. Oculocutaneous albinism type 1: the last 100 years. Pigment Cell Res 2003;16(3):307-311.
101. Ferguson CA, Kidson SH. The regulation of tyrosinase gene transcription. Pigment Cell Res 1997;10(3):127-138.
102. Ganss R, Montoliu L, Monaghan AP, Schutz G. A cell-specific enhancer far upstream of the mouse tyrosinase gene confers high level and copy number-related expression in transgenic mice. Embo J 1994;13(13):3083-3093.
103. Porter SD, Meyer CJ. A distal tyrosinase upstream element stimulates gene expression in neural-crest-derived melanocytes of transgenic mice: position-independent and mosaic expression. Development 1994;120(8):2103-2111.
104. Fryer JP, Oetting WS, King RA. Identification and characterization of a DNase hypersensitive region of the human tyrosinase gene. Pigment Cell Res 2003;16(6):679-684.
105. Jackson IJ. A cDNA encoding tyrosinase-related protein maps to the brown locus in mouse. Proc Natl Acad Sci USA 1988;85(12):4392-4396.
106. Jackson IJ, Chambers DM, Tsukamoto K, et al. A second tyrosinase-related protein, TRP-2, maps to and is mutated at the mouse slaty locus. Embo J 1992;11(2):527-535.
107. Tsukamoto K, Jackson IJ, Urabe K, Montague PM, Hearing VJ. A second tyrosinase-related protein, TRP-2, is a melanogenic enzyme termed DOPAchrome tautomerase. Embo J 1992;11(2):519-526.
108. Shibahara S, Taguchi H, Muller RM, et al. Structural organization of the pigment cell-specific gene located at the brown locus in mouse. Its promoter activity and alternatively spliced transcript. J Biol Chem 1991;266(24):15, 895-15, 901.
109. Lowings P, Yavuzer U, Goding CR. Positive and negative elements regulate a melanocyte-specific promoter. Mol Cell Biol 1992;12(8):3653-3662.
110. Yavuzer U, Goding CR. Melanocyte-specific gene expression: role of repression and identification of a melanocyte-specific factor, MSF. Mol Cell Biol 1994;14(5):3494-3503.
111. Bertolotto C, Busca R, Abbe P, et al. Different cis-acting elements are involved in the regulation of TRP1 and TRP2 promoter activities by cyclic AMP: pivotal role of M boxes (GTCATGTGCT) and of microphthalmia. Mol Cell Biol 1998;18(2):694-702.
112. Shibata K, Takeda K, Tomita Y, Tagami H, Shibahara S. Downstream region of the human tyrosi-nase-related protein gene enhances its promoter activity. Biochem Biophys Res Commun 1992;184(2):568-575.
113. Yasumoto K, Yokoyama K, Takahashi K, Tomita Y, Shibahara S. Functional analysis of mi-crophthalmia-associated transcription factor in pigment cell-specific transcription of the human tyrosinase family genes. J Biol Chem 1997;272(1):503-509.
114. Ludwig A, Rehberg S, Wegner M. Melanocyte-specific expression of dopachrome tautomerase is dependent on synergistic gene activation by the Sox10 and Mitf transcription factors. FEBS Lett 2004;556(1-3):236-244.
115. Fang D, Tsuji Y, Setaluri V. Selective down-regulation of tyrosinase family gene TYRP1 by inhibition of the activity of melanocyte transcription factor, MITF. Nucleic Acids Res 2002;30(14):3096-3106.
116. Gaggioli C, Busca R, Abbe P, Ortonne JP, Ballotti R. Microphthalmia- associated transcription factor (MITF) is required but is not sufficient to induce the expression of melanogenic genes. Pigment Cell Res 2003;16(4):374-382.
117. Yasumoto K, Takeda K, Saito H, Watanabe K, Takahashi K, Shibahara S. Microphthalmia-associ-ated transcription factor interacts with LEF-1, a mediator of Wnt signaling. EMBO J 2002;21(11): 2703-2714.
118. 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(3):731-738.
119. O'Reilly FM, Brat DJ, McAlpine BE, Grossniklaus HE, Folpe AL, Arbiser JL. Microphthalmia transcription factor immunohistochemistry: a useful diagnostic marker in the diagnosis and detection of cutaneous melanoma, sentinel lymph node metastases, and extracutaneous melanocytic neoplasms. J Am Acad Dermatol 2001;45(3):414-419.
120. Dorvault CC, Weilbaecher KN, Yee H, et al. Microphthalmia transcription factor: a sensitive and specific marker for malignant melanoma in cytologic specimens. Cancer 2001;93(5):337-343.
121. Du J, Miller AJ, Widlund HR, Horstmann MA, Ramaswamy S, Fisher DE. MLANA/MART1 and SILV/PMEL17/GP100 are transcriptionally regulated by MITF in melanocytes and melanoma. Am J Pathol 2003;163(1):333-343.
122. Kwon BS, Chintamaneni C, Kozak CA, et al. A melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12. Proc Natl Acad Sci USA 1991;88(20):9228-9232.
123. Kwon BS, Kim KK, Halaban R, Pickard RT. Characterization of mouse Pmel 17 gene and silver locus. Pigment Cell Res 1994;7(6):394-397.
124. Rimoldi D, Muehlethaler K, Salvi S, et al. Subcellular localization of the melanoma-associated protein Melan-AMART-1 influences the processing of its HLA-A2-restricted epitope. J Biol Chem 2001;276(46):43, 189-43, 196.
125. De Maziere AM, Muehlethaler K, van Donselaar E, et al. The melanocytic protein Melan-A/MART-1 has a subcellular localization distinct from typical melanosomal proteins. Traffic 2002;3(9):678-693.
126. Du J, Fisher DE. Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF. J Biol Chem 2002;277(1):402-406.
127. Sweet HO, Brilliant MH, Cook SA, Johnson KR, Davisson MT. A new allelic series for the underwhite gene on mouse chromosome 15. J Hered 1998;89(6):546-551.
128. Fukamachi S, Shimada A, Shima A. Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka. Nat Genet 2001;28(4):381-385.
129. Miller AJ, Du J, Rowan S, Hershey CL, Widlund HR, Fisher DE. Transcriptional regulation of the melanoma prognostic marker melastatin (TRPM1) by MITF in melanocytes and melanoma. Cancer Res 2004;64(2):509-516.
130. Duncan LM, Deeds J, Hunter J, et al. Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis. Cancer Res 1998;58(7):1515-1520.
131. Carreira S, Liu B, Goding CR. The gene encoding the T-box factor Tbx2 is a target for the microphthalmia-associated transcription factor in melanocytes. J Biol Chem 2000;275(29): 21, 920-21, 927.
132. Carreira S, Dexter TJ, Yavuzer U, Easty DJ, Goding CR. Brachyury-related transcription factor Tbx2 and repression of the melanocyte-specific TRP-1 promoter. Mol Cell Biol 1998;18(9):5099-5108.
133. Jacobs JJ, Keblusek P, Robanus-Maandag E, et al. Senescence bypass screen identifies TBX2, which represses Cdkn2a (p19(ARF)) and is amplified in a subset of human breast cancers. Nat Genet 2000;26(3):291-299.
134. Prince S, Carreira S, Vance KW, Abrahams A, Goding CR. Tbx2 directly represses the expression of the p21(WAF1) cyclin-dependent kinase inhibitor. Cancer Res 2004;64(5):1669-1674.
135. Sanchez-Martin M, Rodriguez-Garcia A, Perez-Losada J, Sagrera A, Read AP, Sanchez-Garcia I. SLUG (SNAI2) deletions in patients with Waardenburg disease. Hum Mol Genet 2002;11(25): 3231-3236.
136. Sanchez-Martin M, Perez-Losada J, Rodriguez-Garcia A, et al. Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet 2003;122A(2):125-132.
137. Inukai T, Inoue A, Kurosawa H, et al. SLUG, a ces-1-related zinc finger transcription factor gene with antiapoptotic activity, is a downstream target of the E2A-HLF oncoprotein. Mol Cell 1999; 4(3):343-352.
138. Hajra KM, Chen DY, Fearon ER. The SLUG zinc-finger protein represses E-cadherin in breast cancer. Cancer Res 2002;62(6):1613-1618.
139. Silvers WK. The Coat Color of Mice: A Model for Mammalian Gene Action and Interaction. Springer-Verlag, New York, NY: 1979.
140. 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(6664):298-301.
141. Price ER, Ding HF, Badalian T, et al. Lineage-specific signaling in melanocytes. C-kit stimulation recruits p300/CBP to microphthalmia. J Biol Chem 1998;273(29):17, 983-17, 986.
142. Wu M, Hemesath TJ, Takemoto CM, et al. c-Kit triggers dual phosphorylations, which couple activation and degradation of the essential melanocyte factor Mi. Genes Dev 2000;14(3):301-312.
143. Xu W, Gong L, Haddad MM, et al. Regulation of microphthalmia-associated transcription factor MITF protein levels by association with the ubiquitin-conjugating enzyme hUBC9. Exp Cell Res 2000;255(2):135-143.
144. 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 2000;9(1):125-132.
145. Mansky KC, Sankar U, Han J, Ostrowski MC. Microphthalmia transcription factor is a target of the p38 MAPK pathway in response to receptor activator of NF-kappa B ligand signaling. J Biol Chem 2002;277(13):11, 077-11, 083.
146. 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-enhanc-ing factor 1. J Biol Chem 2002;277(32):28, 787-28, 794.
147. Luchin A, Suchting S, Merson T, et al. Genetic and physical interactions between Microphthalmia transcription factor and PU.1 are necessary for osteoclast gene expression and differentiation. J Biol Chem 2001;276(39):36, 703-36, 710.
148. Hershey CL, Fisher DE. Mitf and Tfe3: members of a b-HLH-ZIP transcription factor family essential for osteoclast development and function. Bone 2004;34(4):689-696.
149. Planque N, Leconte L, Coquelle FM, Martin P, Saule S. Specific Pax-6/microphthalmia transcription factor interactions involve their DNA-binding domains and inhibit transcriptional properties of both proteins. J Biol Chem 2001;276(31):29, 330-29, 337.
150. Levy C, Nechushtan H, Razin E. A new role for the STAT3 inhibitor, PIAS3: a repressor of mi-crophthalmia transcription factor. J Biol Chem 2002;277(3):1962-1966.
151. Levy C, Sonnenblick A, Razin E. Role played by microphthalmia transcription factor phosphory-lation and its Zip domain in its transcriptional inhibition by PIAS3. Mol Cell Biol 2003;23(24): 9073-9080.
152. Nechushtan H, Razin E. The function of MITF and associated proteins in mast cells. Mol Immunol 2002;38(16-18):1177-1180.
153. Su T, Suzui M, Wang L, Lin CS, Xing WQ, Weinstein IB. Deletion of histidine triad nucleotide-binding protein 1/PKC-interacting protein in mice enhances cell growth and carcinogenesis. Proc Natl Acad Sci USA 2003;100(13):7824-7829.
154. Razin E, Zhang ZC, Nechushtan H, et al. Suppression of microphthalmia transcriptional activity by its association with protein kinase C-interacting protein 1 in mast cells. J Biol Chem 1999;274(48): 34, 272-34, 276.
155. Argani P, Ladanyi M. Recent advances in pediatric renal neoplasia. Adv Anat Pathol 2003; 10(5):243-260.
156. Argani P, Hawkins A, Griffin CA, et al. A distinctive pediatric renal neoplasm characterized by epithelioid morphology, basement membrane production, focal HMB45 immunoreactivity, and t(6;11)(p21.1;q12) chromosome translocation. Am J Pathol 2001;158(6):2089-2096.
157. Davis IJ, Hsi BL, Arroyo JD, et al. Cloning of an Alpha-TFEB fusion in renal tumors harboring the t(6;11)(p21;q13) chromosome translocation. Proc Natl Acad Sci USA 2003;100(10):6051-6056.
158. Kuiper RP, Schepens M, Thijssen J, et al. Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution. Hum Mol Genet 2003;12(14):1661-1669.
159. Taub R, Kirsch I, Morton C, et al. Translocation of the c-myc gene into the immunoglobulin heavy chain locus in human Burkitt lymphoma and murine plasmacytoma cells. Proc Natl Acad Sci USA 1982;79(24):7837-7841.
160. Dalla-Favera R, Bregni M, Erikson J, Patterson D, Gallo RC, Croce CM. Human c-myc onc gene is located on the region of chromosome 8 that is translocated in Burkitt lymphoma cells. Proc Natl Acad Sci USA 1982;79(24):7824-7827.
161. 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(18):5012-5016.
162. 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(2):205-211.
163. 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(1):47-51.
164. Joo A, Aburatani H, Morii E, Iba H, Yoshimura A. STAT3 and MITF cooperatively induce cellular transformation through upregulation of c-fos expression. Oncogene 2004;23(3):726-734.