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Volumn 4, Issue 2, 1999, Pages 101-104

Implications of isoform multiplicity of microphthalmia-associated transcription factor in the pathogenesis of auditory-pigmentary syndromes

Author keywords

Differentiation; Melanin; Melanocyte; Retinal pigment epithelium; Tyrosinase

Indexed keywords

HELIX LOOP HELIX PROTEIN; MELANIN; MESSENGER RNA; MONOPHENOL MONOOXYGENASE; TRANSCRIPTION FACTOR;

EID: 0032831805     PISSN: 10870024     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper
Times cited : (10)

References (26)
  • 1
    • 0032577909 scopus 로고    scopus 로고
    • Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium
    • 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 247:710-715, 1998
    • (1998) Biochem Biophys Res Commun , vol.247 , pp. 710-715
    • Amae, S.1    Fuse, N.2    Yasumoto, K.3
  • 2
    • 0025061096 scopus 로고
    • TFE3: A helix-loop-helix protein that activates transcription through the immunoglobulin enhancer μE3 motif
    • Beckmann H, Su L-K, Kadesch T: TFE3: a helix-loop-helix protein that activates transcription through the immunoglobulin enhancer μE3 motif. Genes Dev 4:167-179, 1990
    • (1990) Genes Dev , vol.4 , pp. 167-179
    • Beckmann, H.1    Su, L.-K.2    Kadesch, T.3
  • 3
    • 0028027745 scopus 로고
    • Melanocyte-specific expression of the human tyrosinase promoter: Artivation by the microphthalmia gene product and role of the initiator
    • Bentley NJ, Eisen T, Goding CR: Melanocyte-specific expression of the human tyrosinase promoter: artivation by the microphthalmia gene product and role of the initiator. Mol Cell Biol 14:7996-8006, 1994
    • (1994) Mol Cell Biol , vol.14 , pp. 7996-8006
    • Bentley, N.J.1    Eisen, T.2    Goding, C.R.3
  • 4
    • 0025310643 scopus 로고
    • A helix-loop-helix protein related to the immunoglobulin E box-binding proteins
    • Carr CS, Sharp PA: A helix-loop-helix protein related to the immunoglobulin E box-binding proteins. Mol Cell Biol 10:4384-4388, 1990
    • (1990) Mol Cell Biol , vol.10 , pp. 4384-4388
    • Carr, C.S.1    Sharp, P.A.2
  • 5
    • 0027937178 scopus 로고
    • Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes
    • Farrer LA, Arnos KS, Asher JH Jr, et al: Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. Am J Hum Genet 55:728-737, 1994
    • (1994) Am J Hum Genet , vol.55 , pp. 728-737
    • Farrer, L.A.1    Arnos, K.S.2    Asher J.H., Jr.3
  • 6
    • 0029917487 scopus 로고    scopus 로고
    • Identification of a melanocyte-type promoter of the microphthalmia-associated transcription factor gene
    • 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
    • (1996) Biochem Biophys Res Commun , vol.219 , pp. 702-707
    • Fuse, N.1    Yasumoto, K.2    Suzuki, H.3    Takahashi, K.4    Shibahara, S.5
  • 7
    • 0028062014 scopus 로고
    • Microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family
    • Hemesath TJ. Steingrimsson E, McGill G, et al: Microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family. Genes Dev 8:2770-2780, 1994
    • (1994) Genes Dev , vol.8 , pp. 2770-2780
    • Hemesath, T.J.1    Steingrimsson, E.2    McGill, G.3
  • 8
    • 0027204149 scopus 로고
    • Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic helix-loop-helix-zipper protein
    • Hodgkinson CA, Moore KJ, Nakayama A, Steingrimsson E, Copeland NG, Jenkins NA, Arnheiter 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
    • (1993) Cell , vol.74 , pp. 395-404
    • Hodgkinson, C.A.1    Moore, K.J.2    Nakayama, A.3    Steingrimsson, E.4    Copeland, N.G.5    Jenkins, N.A.6    Arnheiter, H.7
  • 9
    • 0027386022 scopus 로고
    • A helix-loop-helix transcription factor-like gene is located at the mi locus
    • 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
    • (1993) J Biol Chem , vol.268 , pp. 20687-20690
    • Hughes, M.J.1    Lingrel, J.B.2    Krakowsky, J.M.3    Anderson, K.P.4
  • 10
    • 0027966022 scopus 로고
    • A gene for Wardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1
    • Hughes AE, Newton VE, Lin XZ, Read AP: A gene for Wardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. Nature Genet 7:509-512, 1994
    • (1994) Nature Genet , vol.7 , pp. 509-512
    • Hughes, A.E.1    Newton, V.E.2    Lin, X.Z.3    Read, A.P.4
  • 11
    • 0028789866 scopus 로고
    • Insight into the microphthalmia gene
    • Moore KJ: Insight into the microphthalmia gene. Trends: Genet 11:442-448, 1995
    • (1995) Trends: Genet , vol.11 , pp. 442-448
    • Moore, K.J.1
  • 12
    • 0030012628 scopus 로고    scopus 로고
    • Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A
    • 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 59:76-83, 1996
    • (1996) Am J Hum Genet , vol.59 , pp. 76-83
    • Nobukuni, Y.1    Watanabe, A.2    Takeda, K.3    Skarka, H.4    Tachibana, M.5
  • 13
    • 0030745513 scopus 로고    scopus 로고
    • Goding CR: CBP/p300 as a co-factor for the microphthalmia transcription factor
    • Sato S. Roberts K, Gambino G, Cook A, Kouzarides T, Goding CR: CBP/p300 as a co-factor for the microphthalmia transcription factor. Ontogene 14:3083-3092, 1997
    • (1997) Ontogene , vol.14 , pp. 3083-3092
    • Sato, S.1    Roberts, K.2    Gambino, G.3    Cook, A.4    Kouzarides, T.5
  • 14
    • 0000214258 scopus 로고    scopus 로고
    • Genetic regulation of the pigment cell. In the pigmentary system
    • Noedlund JJ, Boissy RE, Hearing VJ, King RA, Ortonne J-P (eds). New York: Oxford University Press
    • Shibahara S, Yasumoto K, Takahashi K: Genetic Regulation of the Pigment Cell. in the Pigmentary System. In: Noedlund JJ, Boissy RE, Hearing VJ, King RA, Ortonne J-P (eds). Physiology and Pathophysiology. New York: Oxford University Press, 1998, pp. 251-273
    • (1998) Physiology and Pathophysiology , pp. 251-273
    • Shibahara, S.1    Yasumoto, K.2    Takahashi, K.3
  • 15
    • 0026644837 scopus 로고
    • Identification of a cis-acting element that enhances the pigment cell-specific expression of the human tyrosinase gene
    • Shibata K, Muraosa Y, Tomica Y, Taguni H, Shibahara S: 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
    • (1992) J Biol Chem , vol.267 , pp. 20584-20588
    • Shibata, K.1    Muraosa, Y.2    Tomica, Y.3    Taguni, H.4    Shibahara, S.5
  • 16
    • 0028091741 scopus 로고
    • Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotype consequences
    • Steingrimsson E, Moore KJ, Larnoreux ML, et al: Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotype consequences. Nature Genet 8:256-263, 1994
    • (1994) Nature Genet , vol.8 , pp. 256-263
    • Steingrimsson, E.1    Moore, K.J.2    Larnoreux, M.L.3
  • 17
    • 0028209856 scopus 로고
    • Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3
    • 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 3:553-557, 1994
    • (1994) Hum Mol Genet , vol.3 , pp. 553-557
    • Tachibana, M.1    Perez Jurado, L.A.2    Nakayama, A.3
  • 18
    • 0029741915 scopus 로고    scopus 로고
    • Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics
    • Tachibana M, Takeda K, Nobukuni Y, et al: Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics. Nature Genet 14:50-54, 1996
    • (1996) Nature Genet , vol.14 , pp. 50-54
    • Tachibana, M.1    Takeda, K.2    Nobukuni, Y.3
  • 19
    • 0027943189 scopus 로고
    • Waardenburg syndrome type 2 caused by mutation in the human microphthalmia (MITF) gene
    • Tassabehji M, Newton VE, Read AP: Waardenburg syndrome type 2 caused by mutation in the human microphthalmia (MITF) gene. Nature Genet 8:251-255, 1994
    • (1994) Nature Genet , vol.8 , pp. 251-255
    • Tassabehji, M.1    Newton, V.E.2    Read, A.P.3
  • 20
    • 0028972923 scopus 로고
    • The mutational spectrum in Waardenburg syndrome
    • Tassabehji M, Newton VE, Liu X-Z, et al: The mutational spectrum in Waardenburg syndrome. Hum Mol Genet 4:2131-2137, 1995
    • (1995) Hum Mol Genet , vol.4 , pp. 2131-2137
    • Tassabehji, M.1    Newton, V.E.2    Liu, X.-Z.3
  • 21
    • 0030851942 scopus 로고    scopus 로고
    • Molecular cloning of cDNA encoding a human TFEC isoform, a newly identified transcriptional regulator
    • Yasumoto K, Shibahara S: Molecular cloning of cDNA encoding a human TFEC isoform, a newly identified transcriptional regulator. Biochem Biophys Acta 1353:23-31, 1997
    • (1997) Biochem Biophys Acta , vol.1353 , pp. 23-31
    • Yasumoto, K.1    Shibahara, S.2
  • 22
    • 0028051530 scopus 로고
    • Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene
    • Yasumoto K, Yokoyama K, Shibata K, Tomica Y, Shibahara S: Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene. Mol Cell Biol 14:8058-8070, 1994
    • (1994) Mol Cell Biol , vol.14 , pp. 8058-8070
    • Yasumoto, K.1    Yokoyama, K.2    Shibata, K.3    Tomica, Y.4    Shibahara, S.5
  • 23
    • 0031032601 scopus 로고    scopus 로고
    • Functional analysis of microphthalmia-associated transcription factor in pigment cell-specific transcription of the human tyrosinase family genes
    • Yasumoto K, Yokoyama K, Takahashi K, Tomita Y, Shibahara S: 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
    • (1997) J Biol Chem , vol.272 , pp. 503-509
    • Yasumoto, K.1    Yokoyama, K.2    Takahashi, K.3    Tomita, Y.4    Shibahara, S.5
  • 24
    • 0032248265 scopus 로고    scopus 로고
    • A big gene linked to small eyes encodes multiple Mitf isoforms: Many promoters make light work
    • 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 11:329-336, 1998
    • (1998) Pigment Cell Res , vol.11 , pp. 329-336
    • Yasumoto, K.1    Amae, S.2    Udono, T.3    Fuse, N.4    Takeda, K.5    Shibahara, S.6
  • 25
    • 0028027790 scopus 로고
    • Cloning of the human DOPAchrone tautomerase/tyrosinase-related protein 2 gene and identification of two regulatory regions required for its pigment cell-specific impression
    • Yokoyama K. Yasumoto K, Suzuki H, Shibahara S: Cloning of the human DOPA chrone tautomerase/tyrosinase-related protein 2 gene and identification of two regulatory regions required for its pigment cell-specific impression. J Biol Chem 269:27080-27087, 1994
    • (1994) J Biol Chem , vol.269 , pp. 27080-27087
    • Yokoyama, K.1    Yasumoto, K.2    Suzuki, H.3    Shibahara, S.4
  • 26
    • 0027219255 scopus 로고
    • TFEC, a basic helix-loop helix protein forms heterodimers with TFE3 and inhibits TFE3-dependent transcription activation
    • Zhao G-Q, Zhao Q, Zhou X, Mattei M-G, De Crombrugghe B: TFEC, a basic helix-loop helix protein forms heterodimers with TFE3 and inhibits TFE3-dependent transcription activation. Mol Cell Biol 13:4505-4512, 1993
    • (1993) Mol Cell Biol , vol.13 , pp. 4505-4512
    • Zhao, G.-Q.1    Zhao, Q.2    Zhou, X.3    Mattei, M.-G.4    De Crombrugghe, B.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.