A Big Gene Linked to Small Eyes Encodes Multiple Mitf Isoforms: Many Promoters Make Light Work

Pigment Cell Research

Volumn 11, Issue 6, 1998, Pages 329-336

  Yasumoto, Ken Ichi ^a   Amae, Shintaro ^a   Udono, Tetsuo ^a   Fuse, Nobuo ^a   Takeda, Kazuhisa ^a   Shibahara, Shigeki ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Differentiation; Melanocyte; Microphthalmia; Retinal Pigment epithelium

Indexed keywords

BASIC HELIX LOOP HELIX LEUCINE ZIPPER TRANSCRIPTION FACTOR; DNA BINDING PROTEIN; HELIX LOOP HELIX PROTEIN; ISOPROTEIN; MESSENGER RNA; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; MITF PROTEIN, HUMAN; MITF PROTEIN, MOUSE; TFE3 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

AMINO ACID SEQUENCE; ANIMAL; GENE EXPRESSION REGULATION; GENETIC LINKAGE; GENETICS; HUMAN; MELANOCYTE; METABOLISM; MOLECULAR GENETICS; MOUSE; NUCLEOTIDE SEQUENCE; PHYSIOLOGY; PIGMENT EPITHELIUM; PROMOTER REGION; REVIEW; TRANSACTIVATION;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; DNA-BINDING PROTEINS; GENE EXPRESSION REGULATION; HELIX-LOOP-HELIX MOTIFS; HUMANS; LINKAGE (GENETICS); MELANOCYTES; MICE; MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MOLECULAR SEQUENCE DATA; PIGMENT EPITHELIUM OF EYE; PROMOTER REGIONS (GENETICS); PROTEIN ISOFORMS; RNA, MESSENGER; TRANS-ACTIVATION (GENETICS); TRANSCRIPTION FACTORS;

EID: 0032248265     PISSN: 08935785     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0749.1998.tb00491.x     Document Type: Review

References (45)

1. Amae, S., N. Fuse, K. Yasumoto, S. Sato, I. Yajima, H. Yamamoto, T. Udono, Y. K. Durlu, M. Tamai, K. Takahashi, and S. Shibahara (1998) Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium. Biochem. Biophys. Res. Commun., 247:710-715.
2. Beckmann, H., L.-K. Su, and T. Kadesch (1990) TFE3: A helix-loophelix protein that activates transcription through the immunoglobulin enhancer μE3 motif. Genes Dev., 4:167-179.
3. Bentiey, N.J., T. Eisen, and C.R. Goding (1994) Melanocyte-speciflc expression of the human tyrosinase promoter: Activation by the microphthalmia gene product and role of the initiator. Mol. Cell. Biol., 14:7996-3006.
4. Bertolotto, C., R. Buscà, P. Abbe, K. Bille, E. Aberdam, J.-P. Ortonne, and R. Ballotti (1998) Different cis-acting elements are involved in the regulation of TRF1 and TRF2 promoter activities by cyclic AMP: Pivotal role of M boxes (GTCATGTGCT) and of microphthalmia. Mol. Cell. Biol., 18:694-702.
5. Carr, C.S., and P.A. Sharp (1990) A helix-loop-helix protein related to the immunoglobulin E box-binding proteins. Mol. Cell. Biol., 10:4384-4388.
6. Durlu, Y.K., and M. Tamai (1997) Transplantation of retinal pigment epithelium using viable cryopreserved cells. Cell Transplantation, 6:149-162.
7. Fase, N., K. Yasumoto, H. Suzuki, K. Takahashi, and S. Shibahara (1996) Identification of a melanocyte-type promoter of the microphthalmia-associated transcription factor gene. Biochem. Biophys. Res. Commun., 219:702-707.
8. Ganss, R., G. Schütz, and F. Beermann (1994) The mouse tyrosinase gene. J. Biol. Chem., 269:29808-29816.
9. Hemesath, T. J., E. R. Price, C. Takemoto, T. Badalian, and D. E. Fisher (1998) MAP kinase links the transcription factor Microphthalmia to c-Kit signalling in melanocytes. Nature, 391:298-301.
10. Hemesath, T. J., E. Steingrímsson, G. McGill, M. J. Hansen, J. Vaught, C. Hodgkinson, H. Arnheiter, N. G. Copeland, N. A. Jenkins, and D. E. Fisher (1994) Microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family. Genes Dev., 8:2770-2780.
11. Hodgkinson, C.A., K.J. Moore, A. Nakayama, E. Steingrímsson, N.G. Copeland, N.A. Jenkins, and H. Arnheiter (1993) 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.
12. Hughes, M.J., J.B. Lingrel, J.M. Krakowsky, and K.P. Anderson (1993) A helix-loop-helix transcription factor-like gene is located at the mi locus. J. Biol. Chem., 268:20687-20690.
13. Kadesch, T. (1993) Consequences of heteromeric interactions among helix-loop-helix proteins. Cell Growth Diff., 4:49-55.
14. Krakowsky, J.M., R.E. Boissy, J.C. Neumann, and J.B. Lingrel (1993) A DNA insertional mutation results in microphthalmia in transgenic mice. Transgenic Res., 2:14-20.
15. Macchi, P., L. Notarangelo, S. Giliani, D. Strina, M. Repetto, M.G. Sacco, P. Vezzoni, and A. Villa (1995) The genomic organization of the human transcription factor 3 (TFE3) gene. Genomics, 28:491-494.
16. Mochii, M., Y. Mazaki, N. Mizuno, H. Hayashi, and G. Eguchi (1998) Role of Mitf in differentiation and transdifferentiation of chicken pigmented epithelial cell. Dev. Biol., 193:47-62.
17. Moore, K.J. (1995) Insight into the microphthalmia gene. Trends Genet., 11:442-448.
18. Morii, E., T. Tsujimura, T. Jippo, K. Hashimoto, K. Takebayashi, K. Tsujino, S. Nomura, M. Yamamoto, and Y. Kitamura (1996) Regulation of mouse mast cell protease 6 gene expression by transcription factor encoded by the mi locus. Blood, 88:2488-2494.
19. Nobukuni, Y., A. Watanabe, K. Takeda, H. Skarka, and M. Tachibana (1996) 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.
20. Opdecamp, K., A. Nakayama, M.-T.T. Nguyen, C.A. Hodgkinson, W.J. Pavan, and H. Arnheiter (1997) Melanocyte development in vivo and in neural crest cell cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor. Development, 124:2377-2386.
21. Price, E.R., H.-F. Ding, T. Badalian, S. Bhattaeharya, C. Takemoto, T.-P. Yao, T.J. Hemesath, and D.E. Fisher (1998) Lineage-specific signaling in melanocytes. J. Biol. Chem., 273:17983-17986.
22. Sato, S., K. Roberts, G. Gambino, A. Cook, T. Kouzarides, and C.R. Coding (1997) CBP/p300 as a co-factor for the microphthalmia transcription factor. Oncogene, 14:3083-3092.
23. Shibahara, S., K. Yasumoto, and K. Takahashi (1998) Genetic regulation of the pigment cells. In: The Pigmentary System: Physiology and Pathophysiology. Nordlund, J.J., R.E. Boissy, V.J. Hearing, R.A. King, and J.-P. Ortonne, ed. New York, Oxford University Press, pp. 251-273.
24. Sidhar, S.K., J. Clark, S. Gill, E. Hamoudi, A.J. Crew, R. Gwilliam, M. Ross, W.M. Linehan, S. Birdsall, J. Shipley, and C.S. Cooper (1996) The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene. Hum. Mol. Genet., 5:1333-1338.
25. Silvers, W.K. (1979) The coat colors of mice: A model for mammalian gene action and interaction. New York, Springer-Verlag/
26. Smith, S.B., B.K. Cope, J.R. McCoy, D.J. McCool, and D.M. Defoe (1994) Reduction of phagosomes in the vitiligo mouse model of retinal degeneration. Invest. Ophthalmol. Vis. Sci., 35:3625-3632.
27. Steel, K.P. and C. Barkway (1989) Another role for melanocytes: their importance for normal stria vascularis development in the mammalian inner ear. Development, 107:453-463.
28. Steingrímsson, E., K.J. Moore, M.L. Lamoreux, A.R. Ferré-D'Amaré, S. K. Burley, D.C. Sanders Zimring, L.C. Skow, C.A. Hodgkinson, H. Arnheiter, N.G. Copeland, and N.A. Jenkins (1994) Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Nature Genet., 8:256-263.
29. 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.
30. Suzuki, H., K. Takahashi, K. Yasumoto, S. Amae, M. Yoshizawa, N. Fuse, and S. Shibahara (1998) Role of neurofibromin in modulation of expression of the tyrosinase-related protein 2 gene. J. Biochem., 124:992-998.
31. Tachibana, M., Y. Hara, D. Vyas, C. Hodgkinson, J. Fex, K. Grundfast, and H. Arnheiter (1992) Cochlear disorder associated with melanocyte anomaly in mice with a transgenic insertional mutation. Mol. Cell. Neurosci., 3:433-445.
32. Tachibana, M., L.A. Perez-Jurado, A. Nakayama, C.A. Hodgkinson, X. Li, M. Schneider, T. Miki, J. Fex, U. Francke, and H. Arnheiter (1994) 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.
33. Tachibana, M., K. Takeda, Y. Nobukuni, K. Urabe, J.E. Long, K.A. Meyers, S.A. Aaronson, and T. Miki (1996) Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics. Nature Genet., 14:50-54.
34. Tassabehji, M., V.E. Newton, and A.P. Read (1994) Waardenburg syndrome type 2 caused by mutation in the human microphthalmia (MITF) gene. Nature Genet., 8:251-255.
35. Tsujimura, T., E. Morii, M. Nozaki, K. Hashimoto, Y. Moriyama, K. Takebayashi, T. Kondo, Y. Kanakura, and Y. Kitamura (1996) Involvement of transcription factor encoded by the mi locus in the expression of c-kit receptor tyrosine Kinase in cultured mast cells of mice. Blood, 88:1225-1233.
36. Weilbaecher, K.N., C.L. Hershey, C.M. Takemoto, M.A. Horstmann, T.J. Hemesath, A.H. Tashjian, Jr., and D.E. Fisher (1998) Age-resolving osteopetrosis: A rat model implicating microphthalmia and the related transcription factor TFE3. J. Exp. Med. 187:775-785.
37. Weterman, M.A. J., M. Wilbrink, and A. Geurts van Kessel (1996) Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas. Proc. Natl. Acad. Sci. U.S.A., 93:15294-15298.
38. Wolfe, H.G. and D.L. Coleman (1964) Mi-spotted: A mutation in the mouse. Genet. Res., 5:432-440.
39. Yasumoto, K., H. Mahalingam, H. Suzuki, M. Yoshizawa, K. Yokoyama, and S. Shibahara (1995) Transcriptional activation of the melanocyte-specific genes by the homolog of the mouse microphthalmia protein. J. Biochem., 118:874-881.
40. Yasumoto, K., and S. Shibahara (1997) Molecular cloning of cDNA encoding a human TFEC isoform, a newly identified transcriptional regulator. Biochim. Biophys. Acta, 1353:23-31.
41. Yasumoto, K., K. Yokoyama, K. Shibata, Y. Tomita, and S. Shibahara (1994) Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene. Mol. Cell. Biol., 14:8058-8070.
42. Yasumoto, K., K. Yokoyama, K. Takahashi, Y. Tomita, and S. Shibahara (1997) Functional analysis of microphthalmia-associated transcription factor in pigment cell-specifle transcription of the human tyrosinase family genes. J. Biol. Chem., 272:503-509.
43. Yavuzer, U., K.P. Lowings, V.G. Currie, and C.R. Goding (1995) 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.
44. Yokoyama, K., K. Yasumoto, H. Suzuki, and S. Shibahara (1994) 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.
45. Zhao, G.-Q., Q. Zhao, X. Zhou, M.-G. Mattel, and B. De Crombrugghe (1993) TFEC, a basic helix-loop-helix protein forms heterodimers with TFE3 and inhibits TFE3-dependent transcription activation. Mol. Cell. Biol., 13:4505-4512.