Microphthalmia-associated transcription factor (MITF): Multiplicity in structure, function, and regulation

Journal of Investigative Dermatology Symposium Proceedings

Volumn 6, Issue 1, 2001, Pages 99-104

  Shibahara, Shigeki ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Melanocyte; Retinal pigment epithelium; Retinoic acid; Waardenburg syndrome; Wnt signaling

Indexed keywords

DNA BINDING PROTEIN; DNA BINDING PROTEINS; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; ONCOPROTEIN; PROTO ONCOGENE PROTEIN INT 1; PROTO ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEIN INT-1;

AMINO ACID SEQUENCE; ANIMAL; GENE EXPRESSION REGULATION; GENETICS; HUMAN; MOLECULAR GENETICS; MUTATION; PHYSIOLOGY; PROMOTER REGION; REVIEW; SIGNAL TRANSDUCTION; TIETZE SYNDROME; WAARDENBURG SYNDROME;

AMINO ACID SEQUENCE; ANIMAL; DNA-BINDING PROTEINS; GENE EXPRESSION REGULATION; HUMAN; MOLECULAR SEQUENCE DATA; MUTATION; PROMOTER REGIONS (GENETICS); PROTO-ONCOGENE PROTEINS; SIGNAL TRANSDUCTION; SUPPORT, NON-U.S. GOV'T; TIETZE'S SYNDROME; WAARDENBURG'S SYNDROME;

EID: 0035513744     PISSN: 10870024     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0022-202x.2001.00010.x     Document Type: Article

References (32)

1. Amae S, Fuse N, Yasumoto K, et al: Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epitheliurn. Biochem Biophys Res Commun 247:710-715, 1998
2. Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM: Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). Clin Dysmorphel 7:17-20, 1998
3. Bertolotto C, Buscà R, Abbe P, Dille K, Aberdam E, Ortonne J-P, Ballotti R: 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 18:694-702, 1998
4. Bondurand N, Kuhlbrodt K, Pingault V, et al: A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. Hum Mol Genet 8:1785-1789, 1999
5. Bondurand N, Pingault V, Goerich DE, et al: Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum Mel Genet 9:1907-1917, 2000
6. Buscà R, Ballotti R: Cyclic AMP a key messenger in the regulation of skin pigmentation. Pigment Cell Res 13:60-69, 2000
7. Cadigan KM, Nusse R: Wnt signaling: a common theme in animal development. Genes Dev 11:3286-3305, 1997
8. Dorsky RI, Moon RT, Raible DW: Control of neural crest cell fate by the Wnt signalling pathway. Nature 396:370-373, 1998
9. 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 14:158-162, 2000
10. Eastman Q, Grosschedl R: Regulation of LEF-1/TCF transcription factors by Wnt and other signals. Cun Opin Cell Biol 11:233-240, 1999
11. Farrer LA, Amos KS, Asher JH Jr, et al: Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. Am J Hum Genet 55:728-737, 1994
12. 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 219:702-707, 1996
13. Fuse N, Yasumoto K, Takeda K, et al: Molecular cloning of cDNA encoding a novel microphthalmia-associated transcription factor isoform with a distinct aminoterminus.J Biochem 126:1043-1051, 1999
14. Coding CR: Mitf from neural crest to melanoma, signal transduction and transcription in the melanocyte lineage. Genes Dev 14:1712-1728, 2000
15. HallssonJH, Favor J, Hodgkinson C, et al: Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus. Genetics 155:291-300, 2000
16. Hemesath TJ, Price ER, Takemoto C, Badalian T, Fisher DE: (1998) MAP kinase links the transcription factor Microphthalmia to c-Kit signalling in melanocytes. Nature 391:298-301, 1998
17. Hemesath TJ, Steingrímsson E, McGill G, et al: Microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family. Genes Dev 8:2770-2780, 1994
18. Hodgkinson CA, Moore KJ, Nakayama A, Steingrímsson E, Copeland NG, Jenkins NA, Amheiter H: 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
19. 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 268:20687-20690, 1993
20. Ikeya M, Lee SM, Johnson JE, McMahon AP, Takada S: Wnt signalling required for expansion of neural crest and CNS progenitors. Nature 389:966-970, 1997
21. 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 155:731-738, 1999
22. 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 275:37978-37983, 2000
23. Lerner AB, Shiohara T, Doissy RE, Jacobson KA, Lamoreux ML, Moellmann GE: A mouse model for vitiligo. J Invcst Dcnnatol 87:299-304, 1986
24. Li E, Norris AW: Structure/function of cytoplasmic vitamin A-binding proteins. Annu Rev Nutr 16:205-234, 1996
25. Liu XZ, Newton VE, Read AP: Waardenburg syndrome type II. phenotypic findings and diagnostic criteria. Am J Med Genet 55:95-100, 1995
26. Moore KJ: Insight into the micropluhalmia gene. Trends Genet 11:442-448, 1995
27. Nakayama A, Nguyen MT, Chen CC, Opdecamp K, Hodgkinson CA, Arnheiter H: Mutations in micropluhalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently. Mech Dev 70:155-166, 1998
28. Nobukuni Y, Watanabe A, Takeda K, Skarka H, Tachibana M: Analyses of loss-offunction mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A. Am J Hum Genet 59:76-83, 1996
29. Pingault V, Bondurand N, Kuhlbrodt K, et al: SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 18:171-173, 1998
30. Potterf SB, Furumura M, Dunn KJ, Amheiter H, Pavan WJ: Transcription factor hierarchy in Waardenburg syndrome, regulation of MITF expression by SOX10 and PAX3. Hum Genet 107:1-6, 2000
31. Price ER, Ding H-F, Badalian T, et al: Lineage-specific signaling in melanocytes. J Biol Chem 273:17983-17986, 1998
32. Pusch C, Hustert E, Pfeifer D, et al: The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor. Hum Genet 103:115-123, 1998