Transcriptional Regulation of Melanocyte Function

The Pigmentary System: Physiology and Pathophysiology: Second Edition

Volumn , Issue , 2007, Pages 242-260

  Takeda, Kazuhisa ^a   Shibahara, Shigeki ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Melanocyte function; Microphthalmia associated transcription factor; Pigment cells; Retinal pigment epithelium; TRP 2 dopachrome tautomerase

Indexed keywords

EID: 70350085143     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9780470987100.ch13     Document Type: Chapter

References (211)

1. + mutants due to a defective anterior neuroectoderm specification during gastrulation. Development 121:3279-3290, 1995.
2. Akiyama, T., B. Whitaker, M. Federspiel, S. H. Hughes, H. Yamamoto, T. Takeuchi, and J. Brumbaugh. Tissue-specific expression of mouse tyrosinase gene in cultured chicken cells. Exp. Cell Res. 214:154-162, 1994.
3. Amae, S., N. Fuse, K. Yasumoto, S. Sato, I. Yajima, H. Yamamoto, T. Udono, Y. K. Durlu, M. Tamai, K. Takahashi, and S. Shibahara. Identification of a novel isoform of microphthalmia-associated transcrip tion factor that is enriched in retinal pigment epithelium. Biochem. Biophys. Res. Commun. 247:710-715, 1998.
4. Amae, S., K. Yasumoto, K. Takeda, T. Udono, K. Takahashi, and S. Shibahara. Identification of a composite enhancer of the human tyrosinase-related protein 2/DOPAchrome tautomerase gene. Biochim. Biophys. Acta 1492:505-508, 2000.
5. Amiel, J., P. M. Watkin, M. Tassabehji, A. P. Read, and R. M. Winter. Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). Clin. Dysmorphol. 7:17-20, 1998.
6. Auerbach, R. Analysis of the developmental effects of a lethal mutation in the house mouse. J. Exp. Zool. 127:305-329, 1954.
7. Baas, C., K. M. Bumsted, J. A. Martinez, F. M. Vaccarino, K. C. Wikler, and C. J. Barnstable. The subcellular localization of Otx2 is cell-type specific and developmentally regulated in the mouse retina. Brain Res. Mol. Brain Res. 78:26-37, 2000.
8. Baldwin, C. T., C. F. Hoth, J. A. Amos, E. O. da-Silva, and A. Milunsky. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 355:637-638, 1992.
9. Barton, D. E., B. S. Kwon, and U. Francke. Human tyrosinase gene, mapped to chromosome 11 (q14→q21), defines second region of homology with mouse chromosome 7. Genomics 3:17-24, 1988.
10. Bassi, M. T., M. V. Schiaffino, A. Renieri, F. D. Nigris, L. Galli, M. Bruttini, M. Gebbia, A. A. B. Bergen, R. A. Lewis, and A. Ballabio. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nature Genet. 10:13-9, 1995.
11. Beckmann, H., L.-K. Su, and T. Kadesch. TFE3: A helix-loop-helix protein that activates transcription through the immunoglobulin enhancer μE3 motif. Genes Dev. 4:167-179, 1990.
12. Beermann, F., S. Ruppert, E. Hummler, F. X. Bosch, G. Müller, U. Rüther, and G. Schütz. Rescue of the albino phenotype by introduction of a functional tyrosinase gene into mice. EMBO J. 9:2819-2826, 1990.
13. Beermann, F., E. Schmid, and G. Schütz. Expression of the mouse tyrosinase gene during embryonic development: Recapitulation of the temporal regulation in transgenic mice. Proc. Natl. Acad. Sci. USA 89:2809-2813, 1992.
14. Bentley, N. J., T. Eisen, and C. R. Goding. Melanocyte-specific expression of the human tyrosinase promoter: activation by the microphthalmia gene product and role of the initiator. Mol. Cell. Biol. 14:7996-8006, 1994.
15. Bok, D. Retinal photoreceptor disc shedding and pigment epithelium phagocytosis. In: Retinal Diseases: Medical and Surgical Management, S. J. Rayan, T. E. Ogden, and A. P. Schachat (eds). St Louis: C. V. Mosby Co., 1988, pp. 69-81.
16. Bok, D. The retinal pigment epithelium: a versatile partner in vision, J. Cell Sci. Suppl. 17:189-195, 1993.
17. Bouchard, B., B. B. Fuller, S. Vijayasaradhi, and A. N. Houghton. Induction of pigmentation in mouse fibroblasts by expression of human tyrosinase cDNA. J. Exp. Med. 169:2029-2042, 1989.
18. Bouchard, B., V. Del Marmol, I. J. Jackson, D. Cherif, and L. Dubertret. Molecular characterization of a human tyrosinase-related-protein-2 cDNA patterns of expression in melanocytic cells. Eur. J. Biochem. 219:127-134, 1994.
19. Bondurand, N., V. Pingault, D. E. Goerich, N. Lemort, E. Sock, C. L. Caignec, M. Wegner, and M. Goossens. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum. Mol. Genet. 9:1907-1917, 2000.
20. Budd. P. S., and I. J. Jackson. Structure of the mouse tyrosinase-related protein-2/dopachrome tautomerase (Tyrp2/Dct) gene and sequence of two novel slaty alleles. Genomics 29:35-43, 1995.
21. Cadigan, K. M., and R. Nusse. Wnt signaling: a common theme in animal development. Genes Dev 11:3286-3305, 1997.
22. Carr, C. S., and P. A. Sharp. A helix-loop-helix protein related to the immunoglobulin E box-binding proteins. Mol. Cell. Biol. 10:4384-4388, 1990.
23. Carreira, S., B. Liu, and C. R. Goding. The gene encoding the T-box factor Tbx2 is a target for the microphthalmia-associated transcription factor in melanocytes. J. Biol. Chem. 275:21920-21927, 2000.
24. Carthew, R. W., L. A. Chodosh, and P. A. Sharp. The major late transcription factor binds to and activates the mouse metallothionein I promoter. Genes Dev. 1:973-980, 1987.
25. Cassady, J. L., and R. A. Sturm. Sequence of the human dopachrome tautomerase-encoding TRP-2 cDNA. Gene 143:295-298, 1994.
26. Cawthon, R. M., R. Weiss, G. F. Xu, D. Viskochil, M. Culver, J. Stevens, M. Robertson, D. Dunn, R. Gesteland, P. O'Connell, and R. White. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 62:193-201, 1990.
27. Chalepakis, G., A. Stoykova, J. Wijnholds, P. Tremblay, and P. Gruss. Pax: Gene regulators in the developing nervous system. J. Neuro-biol. 24:1367-1384, 1993.
28. Chintamaneni, C. D., M. Ramsay, M.-A. Colman, M. F. Fox, R. T. Pickard, and B. S. Kwon. Mapping the human cas2 gene, the homo-logue of the mouse brown (b) locus, to human chromosome 9p22-pter. Biochem. Biophys. Res. Commun. 178:227-235, 1991.
29. Chodosh, L. A., R. W. Carthew, G. J. Morgan, G. R. Crabtree, and P. A. Sharp. The adenovirus major late transcription factor activates the rat γ-fibrinogen promoter. Science 238:684-688, 1987.
30. Clevers, H., and M. van de Wetering. TCF/LEF factor earn their wings. Trends. Genet. 13:485-489, 1997.
31. Cohen, T., R. M. Müller, Y. Tomita, and S. Shibahara. Nucleotide sequence of the cDNA encoding human tyrosinase-related protein. Nucleic Acids Res. 18:2807-2808, 1990.
32. Dorsky, R. I., R. T. Moon, and D. W. Raible. Direct regulation of nacre, a zebrafish MITF homolog required for pigment cell formation, by the Wnt pathway. Nature 396:370-373, 1998.
33. Dorsky, R. I., D. W. Raible, and R. T. Moon. Direct regulation of nacre, a zebrafish MITF homolog required for pigment cell formation, by the Wnt pathway. Genes Dev. 14:158-162, 2000.
34. Du, J., A. J. Miller, H. R. Widlund, M. A. Horstmann, S. Ramaswamy, and D. E. Fisher. MLANA/MART1 and SILV/PMEL17/GP100 are transcriptionally regulated by MITF in melanocytes and melanoma. Am. J. Pathol. 163:333-343, 2003.
35. Eastman, Q., and R. Grosschedl. Regulation of LEF-1/TCF transcription factors by Wnt and other signals. Curr. Opin. Cell Biol. 11:233-240, 1999.
36. Eisen, T., D. J. Easty, D. C. Bennett, and C. R. Goding. The POU domain transcription factor Brn-2: elevated expression in malignant melanoma and regulation of melanocyte-specific gene expression. Oncogene 11:2157-2164, 1995.
37. 2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell 67:767-774, 1991.
38. Fisher, D. E., C. S. Carr, L. A. Parent, and P. A. Sharp. TFEB has DNA-binding and oligomerization properties of a unique helix-loop-helix/leucine zipper family. Genes Dev. 5:2342-2352, 1991.
39. Fuse, N., K. Yasumoto, H. Suzuki, K. Takahashi, and S. Shibahara. Identification of a melanocyte-type promoter of the microphthalmia-associated transcription factor gene. Biophys. Biochem. Res. Commun. 219:702-707, 1996.
40. Fuse, N., K. Yasumoto, K. Takeda, S. Amae, M. Yoshizawa, T. Udono, K. Takahashi, M. Tamai, Y. Tomita, M. Tachibana, and S. Shibahara. Molecular cloning of cDNA encoding a novel microphthalmia-associated transcription factor isoform with a distinct amino-terminus. J. Biochem. (Tokyo) 126:1043-1051, 1999.
41. Galibert, M. D., U. Yavuzer, T. J. Dexter, and C. R. Goding. Pax3 and regulation of the melanocyte-specific tyrosinase-related protein-1 promoter. J. Biol. Chem. 274:26894-26900, 1999.
42. Galibert, M. D., S. Carreira, and C. R. Goding. The Usf-1 transcription factor is a novel target for the stress-responsive p38 kinase and mediates UV-induced tyrosinase expression. EMBO J. 20:5022-5031, 2001.
43. Ganss, R., G. Schütz, and F. Beermann. The mouse tyrosinase gene. Promoter modulation by positive and negative regulatory elements. J. Biol. Chem. 269:29808-29816, 1994 a.
44. Ganss, R., L. Montoliu, A. P. Monaghan, and G. Schütz. A cell-specific enhancer far upstream of the mouse tyrosinase gene confers high level and copy number-related expression in transgenic mice. EMBO J. 13:3083-3093, 1994 b.
45. Ganss, R., A. Schmidt, G. Schütz, and F. Beermann. Analysis of the mouse tyrosinase promoter in vitro and in vivo. Pigment Cell Res. 7: 275-278, 1994 c.
46. Giebel, L. B., K. M. Strunk, and R. A. Spritz. Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment. Genomics 9:435-445, 1991.
47. Gregor, P. D., M. Sawadogo, and R. G. Roeder. The adenovirus major late transcription factor USF is a member of the helix-loop-helix group of regulatory proteins and binds to DNA as a dimer. Genes Dev. 4:1730-1740, 1990.
48. Glaser, T., D. S. Walton, and R. L. Maas. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nature Genet. 2:232-239, 1992.
49. Hallsson, J. H., J. Favor, C. Hodgkinson, T. Glaser, M. L. Lamoreux, R. Magnúsdóttir, G. J. Gunnarsson, H. O. Sweet, N. G. Copeland, N. A. Jenkins, and E. Steingrímsson. Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus. Genetics 155:291-300, 2000.
50. Hamel, C. P., E. Tsilou, B. A. Pfeffer, J. J. Hooks, B. Detrick, and T. M. Redmond. Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro. J. Biol. Chem. 268:15751-15757, 1993.
51. Hamel, C. P., N. A. Jenkins, D. J. Gilbert, N. G. Copeland, and T. M. Redmond. The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3. Genomics 20:509-512, 1994.
52. Hemesath, T. J., E. Steingrímsson, G. McGill, M. J. Hansen, J. Vaught, C. A. Hodgkinson, H. Arnheiter, N. G. Copeland, N. A. Jenkins, and D. E. Fisher. Microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family. Genes Dev. 8:2770-2780, 1994.
53. Hemesath, T. J., E. R. Price, C. Takemoto, T. Badalian, and D. E. Fisher. MAP kinase links the transcription factor Microphthalmia to c-Kit signalling in melanocytes. Nature 391:298-301, 1998.
54. Herbarth, B., V. Pingault, N. Bondurand, K. Kuhlbrodt, I. Hermans-Borgmeyer, A. Puliti, N. Lemort, M. Goossens, and M. Wegner. Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. Proc. Natl. Acad. Sci. USA 95:5161-5165, 1998.
55. Hero, I. Optic fissure closure in the normal cinnamon mouse. An ultrastructural study. Invest. Ophthalmol. Vis. Sci. 31:197-216, 1990.
56. Hill, R. E., J. Favor, B. L. M. Hogan, C. C. T. Ton, G. F. Saunders, I. M. Hanson, J. Prosser, T. Jordan, N. D. Hastie, and V. van Heyningen. Mouse Small eye results from mutations in a paired-like homeobox-containing gene. Nature 354:522-525, 1991.
57. Hodgkinson, C. A., K. J. Moore, A. Nakayama, E. Steingrimsson, N. G. Copeland, N. A. Jenkins, and H. Arnheiter. Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell 74:395-404, 1993.
58. Huber, W. E., E. R. Price, H. R. Widlund, J. Du, I. J. Davis, M. Wegner, and D. E. Fisher. A tissue-restricted cAMP transcriptional response: S0X10 modulates alpha-melanocyte-stimulating hormone-triggered expression of microphthalmia-associated transcription factor in melanocytes. J. Biol. Chem. 278:45224-45230, 2003.
59. Hughes, M. J., J. B. Lingrel, J. M. Krakowsky, and K. P. Anderson. A helix-loop-helix transcription factor-like gene is located at the mi locus. J. Biol. Chem. 268:20687-20690, 1993.
60. Hughes, A. E., V. E. Newton, X. Z. Liu, and A. P. Read. A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. Nature Genet. 7:509-512, 1994.
61. Ikeya, M., S. M. Lee, J. E. Johnson, A. P. McMahon, and S. Takada. Wnt signalling required for expansion of neural crest and CNS progenitors. Nature 389:966-970, 1997.
62. Jackson, I. J. A cDNA encoding tyrosinase-related protein maps to the brown locus in mouse. Proc. Natl. Acad. Sci. USA 85: 4392-4396, 1988.
63. Jackson, I. J. Molecular and developmental genetics of mouse coat color. Annu. Rev. Genet. 28:189-217, 1994.
64. Jackson, I. J., and S. Raymond. Manifestations of microphthalmia. Nature Genet. 8:209-210, 1994.
65. Jackson, I. J., D. Chambers, E. M. Rinchik, and D. C. Bennett. Characterization of TRP-1 mRNA levels in dominant and recessive mutations at the mouse brown (b) locus. Genetics 126:451-459, 1990.
66. Jackson, I. J., D. M. Chambers, P. S. Budd, and R. Johnson. The tyrosinase-related protein-1 gene has a structure and promoter sequence very different from tyrosinase. Nucleic Acids Res. 19:3799-3804, 1991.
67. Jackson, I. J., D. M. Chambers, K. Tsukamoto, N. G. Copeland, D. J. Gilbert, N. A. Jenkins, and V. J. Hearing. A second tyrosinase-related protein, TRP-2, maps to and is mutated at the mouse slaty locus. EMBO J. 11:527-535, 1992.
68. Jackson, I. J., P. Budd, J. M. Horn, R. Johnson, S. Raymond, and K. Steel. Genetics and molecular biology of mouse pigmentation. Pigment Cell Res. 7:73-80, 1994.
69. Jiménez-Cervantes, C., F. Solano, T. Kobayashi, K. Urabe, V. J. Hearing, J. A. Lozano, and J. C. García-Borrón. A new enzymatic function in the melanogenic pathway. J. Biol. Chem. 269:17993-18001, 1994.
70. Kadesch, T. Consequences of heteromeric interactions among helix-loop-helix proteins. Cell Growth Differ. 4:49-55, 1993.
71. Khaled, M., L. Larribere, K. Bille, E. Aberdam, J. P. Ortonne, R. Ballotti, and C. Bertolotto. Glycogen synthase kinase 3beta is activated by cAMP and plays an active role in the regulation of melanogen-esis. J. Biol. Chem. 277:33690-33697, 2002.
72. Kikuchi, H., H. Miura, H. Yamamoto, T. Takeuchi, T. Dei, and M. Watanabe. Characteristic sequences in the upstream region of the human tyrosinase gene. Biochim. Biophys. Acta 1009:283-286, 1989.
73. Kim, R. Y., and G. J. Wistow. The cDNA RPE1 and monoclonal antibody HMB-50 define gene products preferentially expressed in retinal pigment epithelium. Exp. Eye Res. 55:657-662, 1992.
74. Klüppel, M., F. Beermann, S. Ruppert, E. Schmid, E. Hummler, and G. Schütz. The mouse tyrosinase promoter is sufficient for expression in melanocytes and in the pigmented epithelium of the retina. Proc. Natl. Acad. Sci. USA 88:3777-3781, 1991.
75. Kobayashi, T., K. Urabe, A. Winder, C. Jiménez-Cervantes, G. Imokawa, T. Brewington, F. Solano, J. C. García-Borrón, and V. J. Hearing. Tyrosinase related protein 1 (TRP1) functions as a DHICA oxidase in melanin biosynthesis. EMBO J. 13:5818-5825, 1994.
76. Krakowsky, J. M., R. E. Boissy, J. C. Neumann, and J. B. Lingrel. A DNA insertional mutation results in microphthalmia in transgenic mice. Transgenic Res. 2:14-20, 1993.
77. Kroumpouzos, G., K. Urabe, T. Kobayashi, C. Sakai, and V. J. Hearing. Functional analysis of the slaty gene product (TRP2) as dopachrome tautomerase and the effect of a point mutation on its catalytic function. Biochem. Biophys. Res. Commun. 202:1060-1068, 1994.
78. Kwon, B. S., A. K. Haq, S. H. Pomerantz, and R. Halaban. Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus. Proc. Natl. Acad. Sci. USA 84:7473-7477, 1987 a.
79. Kwon, B. S., R. Halaban, G. S. Kim, L. Usack, S. Pomerantz, and A. K. Haq. A melanocyte-specific complementary DNA clone whose expression is inducible by melanotropin and isobutylmethyl xanthine. Mol. Biol. Med. 4:339-355, 1987 b.
80. Kwon, B. S., M. Wakulchik, A. K. Haq, R. Halaban, and D. Kestler. Sequence analysis of mouse tyrosinase cDNA and the effect of melanotropin on its gene expression. Biochem. Biophys. Res. Commun. 153:1301-1309, 1988.
81. Kwon, B. S., C. Chintamaneni, C. A. Kozak, N. G. Copeland, D. J. Gilbert, N. Jenkins, D. Barton, U. Francke, Y. Kobayashi, and K. K. Kim. 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 88:9228-9232, 1991.
82. Kwon, B. S., R. Halaban, S. Ponnazhagan, K. Kim, C. Chintamaneni, D. Bennett, and R. T. Pickard. Mouse silver mutation is caused by a single base insertion in the putative cytoplasmic domain of Pmel 17. Nucleic Acids Res. 23:154-158, 1995.
83. Lee, M., J. Goodall, C. Verastegui, R. Ballotti, and C. R. Goding. Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2. J. Biol. Chem. 275:37978-37983, 2000.
84. Lerner, A. B., T. Shiohara, R. E. Boissy, K. A. Jacobson, M. L. Lamoreux, and G. E. Moellmann. A mouse model for vitiligo. J. Invest. Dermatol. 87:299-304, 1986.
85. Lowings, P., U. Yavuzer, and C. R. Goding. Positive and negative elements regulate a melanocyte-specific promoter. Mol. Cell. Biol. 12:3653-3662, 1992.
86. Ludwig, A., S. Rehberg, and M. Wegner. Melanocyte-specific expression of dopachrome tautomerase is dependent on synergistic gene activation by the Sox10 and Mitf transcription factors. FEBS Lett. 556:236-244, 2004.
87. McGill, G. G., M. Horstmann, H. R. Widlund, J. Du, G. Motyckova, E. K. Nishimura, Y. L. Lin, S. Ramaswamy, W. Avery, H. F. Ding, S. A. Jordan, I. J. Jackson, S. J. Korsmeyer, T. R. Golub, and D. E. Fisher. Bcl2 regulation by the melanocyte master regulator Mitf modulates lineage survival and melanoma cell viability. Cell 109:707-718, 2002.
88. Martinez-Morales, J. R., M. Signore, D. Acampora, A. Simeone, and P. Bovolenta. Otx genes are required for tissue specification in the developing eye. Development 128:2019-2030, 2001.
89. Martinez-Morales, J. R., V. Dolez, I. Rodrigo, R. Zaccarini, L. Leconte, P. Bovolenta, and S. Saule. OTX2 activates the molecular network underlying retina pigment epithelium differentiation. J. Biol. Chem. 278:21721-21731, 2003.
90. Matsuo, I., S. Kuratani, C. Kimura, N. Takeda, and S. Aizawa. Mouse 0tx2 functions in the formation and patterning of rostral head. Genes Dev. 9:2646-2658, 1995.
91. Miller, A. J., J. Du, S. Rowan, C. L. Hershey, H. R. Widlund, and D. E. Fisher. Transcriptional regulation of the melanoma prognostic marker melastatin (TRPM1) by MITF in melanocytes and melanoma. Cancer Res. 64:509-516, 2004.
92. Mochii, M., K. Agata, H. Kobayashi, T. S. Yamamoto, and G. Eguchi. Expression of gene coding for a melanosomal matrix protein transcriptionally regulated in the transdifferentiation of chick embryo pigmented epithelial cells. Cell Differ. 24:67-74, 1988.
93. Mochii, M., K. Agata, and G. Eguchi. Complete sequence and expression of a cDNA encoding a chicken 115-kDa melanosomal matrix protein. Pigment Cell Res. 4:41-47, 1991.
94. Mochii, M., A. Iio, H. Yamamoto, T. Takeuchi, and G. Eguchi. Isolation and characterization of a chicken tyrosinase cDNA. Pigment Cell Res. 5:162-167, 1992.
95. Morii, E., K. Takebayashi, H. Motohashi, M. Yamamoto, S, Nomura, and Y. Kitamura. Loss of DNA binding ability of the transcription factor encoded by the mutant mi locus. Biochem. Biophys. Res. Commun. 205:1299-1304, 1994.
96. Müller, G., S. Ruppert, E. Schmid, and G. Schütz. Functional analysis of alternatively spliced tyrosinase gene transcripts. EMBO J. 7:2723-2730, 1988.
97. Murre, C., P. S. McCaw, and D. Baltimore. A new DNA binding and dimerization motif in immunoglobulin enhancer binding, daugh-terless, MyoD, and myc proteins. Cell 56:777-783, 1989 a.
98. Murre, C., P. S. McCaw, H. Vaessin, M. Caudy, L. Y. Jan, Y. N. Jan, C. V. Cabrera, J. N. Buskin, S. D. Hauschka, A. B. Lassar, H. Weintraub, and D. Baltimore. Interactions between heterologous helix-loop-helix proteins generate complexes that bind specifically to a common DNA sequence. Cell 58:537-44, 1989 b.
99. Nair, S. S., V.A. Chaubal, T. Shioda, K. R. Coser, and M. Mojamdar. Over-expression of MSG1 transcriptional co-activator increases melanin in B16 melanoma cells: a possible role for MSG1 in melanogenesis. Pigment Cell Res. 14:206-209, 2001.
100. Nakai, S., H. Kawano, T. Yudate, M. Nishi, J. Kuno, A. Nagata, K. Jishage, H. Hamada, H. Fujii, K. Kawamura, K. Shiba, and T. Noda. The POU domain transcription factor Brn-2 is required for the determination of specific neuronal lineages in the hypothalamus of the mouse. Genes Dev. 9:3109-3121, 1995.
101. Nakayama, A., M. T. Nguyen, C. C. Chen, K. Opdecamp, C. A. Hodgkinson, and H. Arnheiter. Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently. Mech. Dev. 70:155-166, 1998.
102. Nobukuni, Y., A. Watanabe, K. Takeda, H. Skarka, and M. Tachibana. 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. 59:76-83, 1996.
103. Oboki, K., E. Morii, T. R. Kataoka, T. Jippo, and Y. Kitamura. Isoforms of mi transcription factor preferentially expressed in cultured mast cells of mice. Biochem. Biophys. Res. Commun. 290:1250-1254, 2002.
104. Ogihara, H., E. Morii, D. K. Kim, K. Oboki, and Y. Kitamura. Inhibitory effect of the transcription factor encoded by the mutant mi microphthalmia allele on transactivation of mouse mast cell protease 7 gene. Blood 97:645-651, 2001.
105. Opdecamp, K., A. Nakayama, M.-T. T. Nguyen, C. A. Hodgkinson, W. J. Pavan, and H. Arnheiter. Melanocyte development in vivo and in neural crest cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor. Development 124: 2377-2386, 1997.
106. l) acts early to disrupt the development of neural crest-derived melanocytes. Proc. Natl. Acad. Sci. USA 91:7159-7163, 1994.
107. Peirano, R. I., and M. Wegner. The glial transcription factor Sox10 binds to DNA both as monomer and dimer with different functional consequences. Nucleic Acids Res. 28:3047-3055, 2000.
108. Pingault, V., N. Bondurand, K. Kuhlbrodt, D. E. Goerich, M. O. Prehu, A. Puliti, B. Herbarth, I. Hermans-Borgmeyer, E. Legius, G. Matthijs, J. Amiel, S. Lyonnet, I. Ceccherini, G. Romeo, J. C. Smith, A. P. Read, M. Wegner, and M. Goossens. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nature Genet. 18:171-173, 1998.
109. Planque, N., L. Leconte, F. M. Coquelle, P. Martin, and S. Saule. Specific Pax-6/microphthalmia transcription factor interactions involve their DNA-binding domains and inhibit transcriptional properties of both proteins. J. Biol. Chem. 276:29330-29337, 2001.
110. Pognonec, P., and R. G. Roeder. Recombinant 43-kDa USF bind to DNA and activates transcriptional in a manner indistinguishable from that of natural 43/44-kDa USF. Mol. Cell. Biol. 11:5125-5136, 1991.
111. Ponnazhagan, S., L. Hou, and B. S. Kwon. Structural organization of the human tyrosinase gene and sequence analysis and characterization of its promoter region. J. Invest. Dermatol. 102:744-748, 1994.
112. Porter, S. D., and C. J. Meyer. A distal tyrosinase upstream element stimulates gene expression in neural-crest-derived melanocytes of transgenic mice: position-independent and mosaic expression. Development 120:2103-11, 1994.
113. Porter, S. D., L. Larue, and B. Mintz. Mosaicism of tyrosinase-locus transcription and chromatin structure in dark vs. light melanocyte clones of homozygous chinchilla-mottled mice. Dev. Genet. 12:393-402, 1991.
114. Potterf, S. B., M. Furumura, K. J. Dunn, H. Arnheiter, and W. J. Pavan. Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. Hum. Genet. 107:1-6, 2000.
115. Potterf, S. B., R. Mollaaghababa, L. Hou, E. M. Southard-Smith, T. J. Hornyak, H. Arnheiter, and W. J. Pavan. Analysis of SOX10 function in neural crest-derived melanocyte development: SOX10-dependent transcriptional control of dopachrome tautomerase. Dev. Biol. 237:245-257, 2001.
116. Price, E. R., H.-F. Ding, T. Badalian, S. Bhattacharya, C. Takemoto, T. P. Yao, T. J. Hemesath, and D. E. Fisher. Lineage-specific signaling in melanocytes. J. Biol. Chem. 273:17983-17986, 1998.
117. Rehli, M., N. D. Elzen, A. I. Cassady, M. C. Ostrowski, and D. A. Hume. 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 56:111-120, 1999.
118. Rodriguez, T. A., D. B. Sparrow, A. N. Scott, S. L. Withington, J. I. Preis, J. Michalicek, M. Clements, T. E. Tsang, T. Shioda, R. S. Beddington, and S. L. Dunwoodie. Cited1 is required in tro-phoblasts for placental development and for embryo growth and survival. Mol. Cell. Biol. 24:228-244, 2004.
119. Ruppert, S., G. Müller, B. Kwon, and G. Schütz. Multiple transcripts of the mouse tyrosinase gene are generated by alternative splicing. EMBO J. 7:2715-2722, 1988.
120. Saito, H., K. Yasumoto, K. Takeda, K. Takahashi, A. Fukuzaki, S. Orisaka, and S. Shibahara. Melanocyte-specific microphthalmia-associated transcription factor isoform activates its own promoter through physical interaction with lymphoid-enhancing factor 1. J. Biol. Chem. 277:28787-28794, 2002.
121. Saito, H., K. Takeda, K. Yasumoto, H. Ohtani, K. Watanabe, K. Takahashi, A. Fukuzaki, Y. Arai, H. Yamamoto, and S. Shibahara. Germ cell-specific expression of microphthalmia-associated transcription factor mRNA in mouse testis. J. Biochem. (Tokyo) 134:143-150, 2003 a.
122. Saito, H., K. Yasumoto, K. Takeda, K. Takahashi, H. Yamamoto, and S. Shibahara. Microphthalmia-associated transcription factor in the Wnt signaling pathway. Pigment Cell Res. 16:261-265, 2003 b.
123. Sato, M., S. Ishizawa, T. Yoshida, and S. Shibahara. Interaction of upstream stimulatory factor with the human heme oxygenase gene promoter. Eur. J. Biochem. 188:231-237, 1990.
124. Sato, S., K. Roberts, G. Gambino, A. Cook, T. Kouzarides, and C. R. Goding. CBP/p300 as a co-factor for the microphthalmia transcription factor. Oncogene 14:3083-3092, 1997.
125. Sawadogo, M., and R. G. Roeder. Interaction of a gene-specific transcription factor with the adenovirus major late promoter upstream of the TATA box region. Cell 43:165-175, 1985.
126. Schedl, A., L. Montoliu, G. Kelsey, and G. Schütz. A yeast artificial chromosome covering the tyrosinase gene confers copy number-dependent expression in transgenic mice. Nature 362:258-261, 1993.
127. Shibahara, S., Y. Tomita, T. Sakakura, C. Nager, B. Chaudhuri, and R. M. Müller. Cloning and expression of cDNA encoding mouse tyrosinase. Nucleic Acids Res. 14:2413-2427, 1986.
128. Shibahara, S., Y. Tomita, H. Tagami, R. M. Müller, and T. Cohen. Molecular basis for the heterogeneity of human tyrosinase. Tohoku J. Exp. Med. 156:403-414, 1988.
129. Shibahara, S., S. Okinaga, Y. Tomita, A. Takeda, H. Yamamoto, M. Sato, and T. Takeuchi. A point mutation in the tyrosinase gene of BALB/c albino mouse causing the cysteine-serine substitution at position 85. Eur. J. Biochem. 189:455-461, 1990.
130. Shibahara, S., H. Taguchi, R. M. Müller, K. Shibata, T. Cohen, Y. Tomita, and H. Tagami. Structural organization of the pigment cell-specific gene located at the brown locus in mouse. J. Biol. Chem. 266:15895-15901, 1991.
131. Shibahara, S., Y. Tomita, M. Yoshizawa, K. Shibata, and H. Tagami. Identification of mutations in the pigment cell-specific gene located at the brown locus in mouse. Pigment Cell Res. Suppl. 2:90-95, 1992.
132. Shibahara, S., K. Takeda, K. Yasumoto, T. Udono, K. Watanabe, H. Saito, and K. Takahashi. Microphthalmia-associated transcription factor (MITF): Multiplicity in structure, function and regulation. J. Invest. Dermatol. Symp. Proc. 6:99-104, 2001.
133. Shibata, K., Y. Muraosa, Y. Tomita, H. Tagami, and S. Shibahara. Identification of a cis-acting element that enhances the pigment cell-specific expression of the human tyrosinase gene. J. Biol. Chem. 267:20584-20588, 1992 a.
134. Shibata, K., K. Takeda, Y. Tomita, H. Tagami, and S. Shibahara. Downstream region of the human tyrosinase-related protein gene enhances its promoter activity. Biochem. Biophys. Res. Commun. 184:568-575, 1992 b.
135. Shioda, T., M. H. Fenner, and K. J. Isselbacher. Msg1, a novel melanocyte-specific gene, encodes a nuclear protein and is associated with pigmentation. Proc. Natl. Acad. Sci. USA 93:12298-12303, 1996.
136. Shioda, T., R. J. Lechleider, S. L. Dunwoodie, H. Li, T. Yahata, M. P. de Caestecker, M. H. Fenner, A. B. Roberts, and K. J. Isselbacher. Transcriptional activating activity of Smad4: roles of SMAD heterooligomerization and enhancement by an associating transactivator. Proc. Natl. Acad. Sci. USA 95:9785-9790, 1998.
137. Silvers, W. K. The Coat Colors of Mice: A Model for Mammalian Gene Action and Interaction. New York: Springer-Verlag, 1979.
138. Simeone, A., D. Acampora, M. Gulisano, A. Stornaiuolo, and E. Boncinelli. Nested expression domains of four homeobox genes in developing rostral brain. Nature 358:687-690, 1992.
139. Simeone, A., D. Acampora, A. Mallamaci, A. Stornaiuolo, M. R. D'Apice, V. Nigro, and E. A. Boncinelli. Vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo. EMBO J. 12:2735-2747, 1993.
140. Smith, S. B., T. Duncan, G. Kutty, R. K. Kutty, and B. Wiggert. Increase in retinyl palmitate concentration in eyes and livers and the concentration of interphotoreceptor retinoid-binding protein in eyes of vitiligo mutant mice. Biochem. J. 300:63-68, 1994.
141. Southard-Smith, E. M., L. Kos, and W. J. Pavan. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nature Genet. 18:60-64, 1998.
142. Steel, K. P., D. R. Davidson, and I. J. Jackson. TRP-2/DT, a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor. Development 115:1111-1119, 1992.
143. Steingrímsson, E., K. J. Moore, M. L. Lamoreux, A. R. Ferré-D'Amaré, S. K. Burley, D. C. S. Zimring, L. C. Skow, C. A. Hodgkinson, H. Arnheiter, N. G. Copeland, and N. A. Jenkins. Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Nature Genet. 8:256-263, 1994.
144. b mutation identifies a role for the HLH domain in DNA binding in addition to its role in protein dimerization. EMBO J. 15:6280-6289, 1996.
145. Steingrímsson, E., L. Tessarollo, B. Pathak, L. Hou, H. Arnheiter, N. G. Copeland, and N. A. Jenkins. 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 99:4477-4482, 2002.
146. Sturm, R. A., B. J. O'Sullivan, N. F. Box, A. G. Smith, S. E. Smit, E. R. J. Puttick, P. G. Parsons, and I. S. Dunn. Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family. Genomics 29:24-34, 1995.
147. Suzuki, H., K. Takahashi, K. Yasumoto, and S. Shibahara. Activation of the tyrosinase gene promoter by neurofibromin. Biophys. Biochem. Res. Commun. 205:1984-1991, 1994.
148. Suzuki, H., K. Takahashi, K. Yasumoto, S. Amae, M. Yoshizawa, N. Fuse, and S. Shibahara. Role of neurofibromin in modulation of the expression of the tyrosinase-related protein 2 gene. J. Biochem. (Tokyo) 124:992-998, 1998.
149. Tachibana, M., Y. Hara, D. Vyas, C. Hodgkinson, J. Fex, K. Grundfast, and H. Arnheiter. Cochlear disorder associated with melanocyte anomaly in mice with a transgenic insertional mutation. Mol. Cell. Neurosci. 3:433-445, 1992.
150. Tachibana, M., L. A. Perez-Jurado, A. Nakayama, C. A. Hodgkinson, X. Li, M. Schneider, T. Miki, J. Fex, U. Francke, and H. Arnheiter. Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3. Hum. Mol. Genet. 3:553-557, 1994.
151. Tachibana, M., K. Takeda, Y. Nobukuni, K. Urabe, J. E. Long, K. A. Meyers, S. A. Aaronson, and T. Miki. Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics. Nature Genet. 14:50-54, 1996.
152. Takada, S., K. L. Stark, M. J. Shea, G. Vassileva, J. A. McMahon, and A. P. McMahon. Wnt-3a regulates somite and tailbud formation in the mouse embryo. Genes Dev. 8:174-189, 1994.
153. Takase, M., I. Miura, A. Nakata, T. Takeuchi, and M. Nishioka. Cloning and sequencing of the cDNA encoding tyrosinase of the Japanese pond frog, Rana nigromaculata. Gene 121:359-363, 1992.
154. Takebayashi, K., K. Chida, I. Tsukamoto, E. Morii, H. Munakata, H. Arnheiter, T. Kuroki, Y. Kitamura, and S. Nomura. The recessive phenotype displayed by a dominant negative microphthalmia-associated transcription factor mutant is a result of impaired nuclear localization potential. Mol. Cell. Biol. 16:1203-1211, 1996.
155. Takeda, A., Y. Tomita, S. Okinaga, H. Tagami, and S. Shibahara. Functional analysis of the cDNA encoding human tyrosinase precursor. Biochem. Biophys. Res. Commun. 162:984-990, 1989.
156. Takeda, A., Y. Tomita, J. Matsunaga, H. Tagami, and S. Shibahara. Molecular basis of tyrosinase-negative oculocutaneous albinism. J. Biol. Chem. 265:17792-17797, 1990.
157. Takeda, A., J. Matsunaga, Y. Tomita, H. Tagami, and S. Shibahara. Nucleotide sequence of the putative human tyrosinase pseudogene. Tohoku J. Exp. Med. 163:295-297, 1991.
158. Takeda, K., K. Yasumoto, R. Takada, S. Takada, K. Watanabe, T. Udono, H. Saito, K. Takahashi, and S. Shibahara. Induction of melanocyte-specific microphthalmia-associated transcription factor by Wnt-3a. J. Biol. Chem. 275:14013-14016, 2000 a.
159. Takeda, K., C. Takemoto, I. Kobayashi, A. Watanabe, Y. Nobukuni, D. E. Fisher, and M. Tachibana. Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance. Hum. Mol. Genet. 9:125-132, 2000 b.
160. Takeda, K., K. Yasumoto, N. Kawaguchi, T. Udono, K. Watanabe, H. Saito, K. Takahashi, M. Noda, and S. Shibahara. Mitf-D, a newly identified isoform, expressed in the retinal pigment epithelium and monocyte-lineage cells affected by Mitf mutations. Biochim. Biophys. Acta 1574:15-23, 2002.
161. Takeda, K., S. Yokoyama, K. Yasumoto, Saito, H., T. Udono, K. Takahashi, and S. Shibahara. OTX2 regulates expression of DOPAchrome tautomerase in human retinal pigment epithelium. Biochem. Biophys. Res. Commun. 300:908-914, 2003.
162. Takemoto, C. M., Y. J. Yoon, and D. E. Fisher. The identification and functional characterization of a novel mast cell isoform of the microphthalmia-associated transcription factor. J. Biol. Chem. 277:30244-30252, 2002.
163. Takimoto, H., S. Suzuki, S. Masui, K. Shibata, Y. Tomita, S. Shibahara, and H. Nakano. MAT-1, a monoclonal antibody that specifically recognizes human tyrosinase. J. Invest. Dermatol. 105:764-768, 1995.
164. Tanaka, M., S. Tanaka, H. Miura, H. Yamamoto, H. Kikuchi, and T. Takeuchi. Conserved regulatory mechanisms of tyrosinase genes in mice and humans. Pigment Cell Res. 5:304-311, 1992.
165. Tassabehji, M., A. P. Read, V. E. Newton, R. Harris, R. Balling, P. Gruss, and T. Strachan. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355:635-636, 1992.
166. Tassabehji, M., A. P. Read, V. E. Newton, M. Patton, P. Gruss, R. Harris, and T. Strachan. Mutations in the PAX3 gene causing Waar-denburg syndrome type 1 and type 2. Nature Genet. 3:26-30, 1993.
167. Tassabehji, M., V. E. Newton, and A. P. Read. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nature Genet. 8:251-255, 1994.
168. Tassabehji, M., V. E. Newton, X.-Z. Liu, A. Brady, D. Donnai, M. Krajewska-Walasek, V. Murday, A. Norman, E. Obersztyn, W. Reardon, J. C. Rice, R. Trembath, P. Wieacker, M. Whiteford, R. Winter, and A. P. Read. The mutational spectrum in Waarden-burg syndrome. Hum. Mol. Genet. 4:2131-2137, 1995.
169. Terao, M., L. Tabe, E. Garattini, D. Sartori, M. Studer, and B. Mintz. Isolation and characterization of variant cDNAs encoding mouse tyrosinase. Biochem. Biophys. Res. Commun. 159:848-853, 1989.
170. Thomson, J. A., P. G. Parsons, and R. A. Sturm. In vivo and in vitro expression of octamer binding proteins in human melanoma metas-tases, brain tissue, and fibroblasts. Pigment Cell Res. 6:13-22, 1993.
171. Thomson, J. A., K. Murphy, E. Baker, G. R. Sutherland, P. G. Parsons, R. A. Sturm, and F. Thomson. The brn-2 gene regulates the melanocytic phenotype and tumorigenic potential of human melanoma cells. Oncogene 11:691-700, 1995.
172. Tomita, Y., P. M. Montague, and V. J. Hearing. Anti-T4-tyrosinase monoclonal antibodies-specific markers for pigmented melanocytes. J. Invest. Dermatol. 85:426-430, 1985.
173. Tomita, Y., A. Takeda, S. Okinaga, H. Tagami, and S. Shibahara. Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. Biochem. Biophys. Res. Commun. 164:990-996, 1989.
174. Tomita, Y., S. Shibahara, A. Takeda, S. Okinaga, J. Matsunaga, and H. Tagami. The monoclonal antobodies TMH-1 and TMH-2 specifically bind to a protein encoded at the murine b-locus. J. Invest. Dermatol. 96:500-504, 1991.
175. Treacy, M. N., and M. G. Rosenfeld. Expression of a family of POU-domain protein regulatory genes during development of the central nervous system. Annu. Rev. Neurosci. 15:139-165, 1992.
176. Tripathi, R. K., V. J. Hearing, K. Urabe, P. Aroca, and R. A. Spritz. Mutational mapping of the catalytic activities of human tyrosinase. J. Biol. Chem. 267:23707-23712, 1992.
177. Tsukamoto, K., I. J. Jackson, K. Urabe, P. M. Montague, and V. J. Hearing. A second tyrosinase-related protein, TRP-2, is a melanogenic enzyme termed DOPAchrome tautomerase. EMBO J. 11:519-526, 1992.
178. Udono, T., K. Yasumoto, K. Takeda, S. Amae, K. Watanabe, H. Saito, M. Tachibana, K. Takahashi, M. Tamai, and S. Shibahara. Structural organization of the human Microphthalmia-associated transcription factor gene containing multiple promoters. Biochim. Biophys. Acta 1491:205-219, 2000.
179. Udono, T., K. Takahashi, K. Yasumoto, K. Takeda, M. Yoshizawa, T. Abe, M. Tamai, and S. Shibahara. Expression of tyrosinase-related protein 2/DOPAchrome tautomerase in the retinoblastoma. Exp. Eye Res. 72:225-234, 2001.
180. Urabe, K., P. Aroca, and V. J. Hearing. From gene to protein: determination of melanin synthesis. Pigment Cell Res. 6:186-192, 1993.
181. Verastegui, C., K. Bille, J. P. Ortonne, and R. Ballotti. Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. J. Biol. Chem. 275:30757-30760, 2000.
182. Vijayasaradhi, S., B. Bouchard, and A. N. Houghton. The melanoma antigen gp75 is the human homologue of the mouse b (brown) locus gene product. J. Exp. Med. 171:1375-1380, 1990.
183. Viskochil, D., A. M. Buchberg, G. Xu, R. M. Cawthon, J. Stevens, R. K. Wolff, M. Culver, J. C. Carey, N. G. Copeland, N. A. Jenkins, R. White, and P. O'Connell. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62:187-192, 1990.
184. Wallace, M. R., D. A. Marchuk, L. B. Andersen, R. Letcher, H. M. Odeh, A. M. Saulino, J. W. Fountain, A. Brereton, J. Nicholson, A. L. Mitchell, B. H. Brownstein, and F. S. Collins. Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients. Science 249:181-186, 1990.
185. Walther, C., and P. Gruss. Pax-6, a murine paired box gene, is expressed in the developing CNS. Development 113:1435-1449, 1991.
186. Watanabe, A., K. Takeda, B. Ploplis, and M. Tachibana. Epistatic relationship between Waardenburg syndrome gene MITF and PAX3. Nature Genet. 18:283-286, 1998.
187. Watanabe, K., K. Takeda, Y. Katori, K. Ikeda, T. Oshima, K. Yasumoto, H. Saito, T. Takasaka, and S. Shibahara. Expression of the Sox10 gene during mouse inner ear development. Mol. Brain Res. 84:141-145, 2000.
188. Watanabe, K., K. Takeda, K. Yasumoto, T. Udono, H. Saito, K. Ikeda, T. Takasaka, K. Takahashi, T. Kobayashi, M. Tachibana, and S. Shibahara. Identification of a distal enhancer for the melanocyte-specific promoter of the MITF gene. Pigment Cell Res. 15:201-211, 2002.
189. Wu, M., T. J. Hemesath, C. M. Takemoto, M. A. Horstmann, A. G. Wells, E. R. Price, D. Z. Fisher, and D. E. Fisher. C-Kit triggers dual phosphorylations, which couple activation and degradation of the essential melanocyte factor Mi. Genes Dev. 14:301-312, 2000.
190. Xu, G., P. O'Connell, D. Viskochil, R. Cawthon, M. Robertson, M. Culver, D. Dunn, J. Stevens, R. Gesteland, R. White, and R. Weiss. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 62:599-608, 1990.
191. Xu, W., L. Gong, M. M. Haddad, O. Bischof, J. Campisi, E. T. Yeh, and E. E. Medrano. Regulation of microphthalmia-associated transcription factor MITF protein levels by association with the ubiquitin-conjugating enzyme hUBC9. Exp. Cell Res. 255:135-143, 2000.
192. Yahata, T., M. P. de Caestecker, R. J. Lechleider, S. Andriole, A. B. Roberts, K. J. Isselbacher, and T. Shioda. The MSG1 non-DNA-binding transactivator binds to the p300/CBP coactivators, enhancing their functional link to the Smad transcription factors. J. Biol. Chem. 275:8825-8834, 2000.
193. Yahata, T., W. Shao, H. Endoh, J. Hur, K. R. Coser, H. Sun, Y. Ueda, S. Kato, K. J. Isselbacher, M. Brown, and T. Shioda. Selective coactivation of estrogen-dependent transcription by CITED1 CBP/p300-binding protein. Genes Dev. 15:2598-2612, 2001.
194. mi-bw) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness. Hum. Mol. Genet. 8:1431-1441, 1999.
195. Yamamoto, H., S. Takeuchi, T. Kudo, K. Makino, A. Nakata, T. Shinoda, and T. Takeuchi. Cloning and sequencing of mouse tyrosinase cDNA. Jpn. J. Genet. 62:271-274, 1987.
196. Yamamoto, H., S. Takeuchi, T. Kudo, C. Sato, and T. Takeuchi. Melanin production in cultured albino melanocytes transfected with mouse tyrosinase cDNA. Jpn. J. Genet. 64:121-135, 1989.
197. Yamamoto, H., T. Kudo, N. Masuko, H. Miura, S. Sato, M. Tanaka, S. Tanaka, S. Takeuchi, S. Shibahara, and T. Takeuchi. Phylogeny of regulatory regions of vertebrate tyrosinase genes. Pigment Cell Res. 5:284-294, 1992.
198. Yamamura, K., S. Kamada, S. Ito, K. Nakagawa, M. Ichihashi, and Y. Tsujimoto. Accelerated disappearance of melanocytes in Bcl2-deficient mice. Cancer Res. 56:3546-3550, 1996.
199. Yasumoto, K., and S. Shibahara. Molecular cloning of a cDNA encoding a human TFEC isoform, a newly identified transcriptional regulator. Biochim. Biophys. Acta 1353:23-31, 1997.
200. Yasumoto, K., K. Yokoyama, K. Shibata, Y. Tomita, and S. Shibahara. Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene. Mol. Cell. Biol. 14:8058-8070, 1994.
201. Yasumoto, K., H. Mahalingam, M. Yoshizawa, H. Suzuki, K. Yokoyama, and S. Shibahara. Transcriptional activation of the melanocyte-specific genes by the human homolog of the mouse microphthalmia protein. J. Biochem. (Tokyo) 118:874-881, 1995.
202. Yasumoto, K., K. Yokoyama, K. Takahashi, Y. Tomita, and S. Shibahara. Functional analysis of microphthalmia-associated transcription factor in pigment cell-specific transcription of the human tyrosinase family genes. J. Biol. Chem. 272:503-509, 1997.
203. Yasumoto, K., S. Amae, T. Udono, N. Fuse, K. Takeda, and S. Shibahara. A big gene linked to small eyes encodes multiple Mitf isoforms: Many promoters make light work. Pigment Cell Res. 11:329-336, 1998.
204. Yasumoto, K., K. Takeda, H. Saito, K. Watanabe, K. Takahashi, and S. Shibahara. Microphthalmia-associated transcription factor interacts with LEF-1, a mediator of Wnt signaling. EMBO J. 21:2703-2714, 2002.
205. Yavuzer, U., and C. R. Goding. Melanocyte-specific gene expression: Role of repression and identification of a melanocyte-specific factor, MSF. Mol. Cell. Biol. 14:3494-3503, 1994.
206. Yavuzer, U., E. Keenan, P. Lowings, J. Vachtenheim, G. Currie, and C. R. Goding. The Microphthalmia gene product interacts with the retinoblastoma protein in vitro and is a target for deregulation of melanocyte-specific transcription. Oncogene 10:123-134, 1995.
207. Yokoyama, T., D. W. Silversides, K. G. Waymire, B. S. Kwon, T. Takeuchi, and P. A. Overbeek. Conserved cysteine to serine mutation in tyrosinase is responsible for the classical albino mutation in laboratory mice. Nucleic Acids Res. 18:7293-7298, 1990.
208. Yokoyama, K., H. Suzuki, K. Yasumoto, Y. Tomita, and S. Shibahara. Molecular cloning and functional analysis of a cDNA coding for human DOPAchrome tautomerase/tyrosinase-related protein-2. Biochem. Biophys. Acta 1217:317-321, 1994 a.
209. Yokoyama, K., K. Yasumoto, H. Suzuki, and S. Shibahara. Cloning of the human DOPAchrome tautomerase/tyrosinase-related protein 2 gene and identification of two regulatory regions required for its pigment cell-specific expression. J. Biol. Chem. 269:27080-27087, 1994 b.
210. Zdarsky, E., J. Favor, and I. J. Jackson. The molecular basis of brown, an old mouse mutation, and of an induced revertant to wild type. Genetics 126:443-449, 1990.
211. Zhao, G.-Q., Q. Zhao, X. Zhou, M.-G. Mattei, and B. de Crombrugghe. TFEC, a basic helix-loop-helix protein, forms heterodimers with TFE3 and inhibits TFE3-dependent transcription activation. Mol. Cell. Biol. 13:4505-4512, 1993.