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Volumn 15, Issue 22, 1996, Pages 6280-6289

The semidominant Mib mutation identifies a role for the HLH domain in DNA binding in addition to its role in protein dimerization

Author keywords

bHLH Zip transcription factors; DNA binding; Melanocytes; Microphthalmia; Retinal degeneration

Indexed keywords

HELIX LOOP HELIX PROTEIN;

EID: 10544249464     PISSN: 02614189     EISSN: None     Source Type: Journal    
DOI: 10.1002/j.1460-2075.1996.tb01018.x     Document Type: Article
Times cited : (43)

References (43)
  • 1
    • 0028027745 scopus 로고
    • Melanocyte-specific expression of the human tyrosinase promoter: Activation by the microphthalmia gene product and role of the initiator
    • Bentley, N.J., Eisen, T. and Goding, C.R. (1994) 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) Mol. Cell. Biol. , vol.14 , pp. 7996-8006
    • Bentley, N.J.1    Eisen, T.2    Goding, C.R.3
  • 3
    • 0015081972 scopus 로고
    • The role of the pigment epithelium in the etiology of inherited retinal dystrophy in the rat
    • Bok, D. and Hall, M.O. (1971) The role of the pigment epithelium in the etiology of inherited retinal dystrophy in the rat. J. Cell Biol., 49, 664-682.
    • (1971) J. Cell Biol. , vol.49 , pp. 664-682
    • Bok, D.1    Hall, M.O.2
  • 4
    • 0029098575 scopus 로고
    • Structure of the mouse tyrosinase-related protein-2/Dopachrome tautomerase (Tyrp2/Dct) gene and sequence of two novel slaty alleles
    • Budd, P.S. and Jackson, I.J. (1995) 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) Genomics , vol.29 , pp. 35-43
    • Budd, P.S.1    Jackson, I.J.2
  • 5
    • 0025354748 scopus 로고
    • Optimal conditions for directly sequencing double-stranded PCR products with Sequenase
    • Casanova, J.-L., Pannetier, C., Jaulin, C. and Kourilsky, P. (1990) Optimal conditions for directly sequencing double-stranded PCR products with Sequenase. Nucleic Acids Res., 18, 4028.
    • (1990) Nucleic Acids Res. , vol.18 , pp. 4028
    • Casanova, J.-L.1    Pannetier, C.2    Jaulin, C.3    Kourilsky, P.4
  • 8
    • 0028820045 scopus 로고
    • Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa
    • Dryja, T.P., Finn, J.T., Peng, Y.-W., McGee, T.L., Berson, E.L. and Yau, K.-W. (1995) Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc. Natl Acad. Sci. USA, 92, 10177-10181.
    • (1995) Proc. Natl Acad. Sci. USA , vol.92 , pp. 10177-10181
    • Dryja, T.P.1    Finn, J.T.2    Peng, Y.-W.3    McGee, T.L.4    Berson, E.L.5    Yau, K.-W.6
  • 9
    • 10544227568 scopus 로고    scopus 로고
    • mi locus on chromosome 6
    • mi locus on chromosome 6. Mouse Genome, 94, 145.
    • (1996) Mouse Genome , vol.94 , pp. 145
    • Eppig, J.T.1
  • 12
    • 0027910469 scopus 로고
    • Recognition by Max of its cognate DNA through a dimeric b/HLH/Z domain
    • Ferré-D'Amaré, A.R., Prendergast, G.C., Ziff, E.B. and Burley, S.K. (1993) Recognition by Max of its cognate DNA through a dimeric b/HLH/Z domain. Nature, 363, 38-45.
    • (1993) Nature , vol.363 , pp. 38-45
    • Ferré-D'Amaré, A.R.1    Prendergast, G.C.2    Ziff, E.B.3    Burley, S.K.4
  • 14
    • 0028062014 scopus 로고
    • Microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family
    • Hemesath, T.J. et al. (1994) microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family. Genes Dev., 8, 2770-2780.
    • (1994) Genes Dev. , vol.8 , pp. 2770-2780
    • Hemesath, T.J.1
  • 15
    • 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, C.A., Moore, K.J., Nakayama, A., Steingrímsson, E., Copeland, N.G., Jenkins, N.A. and Arnheiter, H. (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.
    • (1993) Cell , vol.74 , pp. 395-404
    • Hodgkinson, C.A.1    Moore, K.J.2    Nakayama, A.3    Steingrímsson, E.4    Copeland, N.G.5    Jenkins, N.A.6    Arnheiter, H.7
  • 16
    • 0028789921 scopus 로고
    • Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase
    • Huang, S.H., Pittler, S.J., Huang, E.L. and Dryja, T.P. (1995) Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nature Genet., 11, 468-471.
    • (1995) Nature Genet. , vol.11 , pp. 468-471
    • Huang, S.H.1    Pittler, S.J.2    Huang, E.L.3    Dryja, T.P.4
  • 17
    • 0027966022 scopus 로고
    • A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1
    • Hughes, A.E., Newton, V.E., Liu, X.Z. and Read, A.P. (1994) 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) Nature Genet. , vol.7 , pp. 509-512
    • Hughes, A.E.1    Newton, V.E.2    Liu, X.Z.3    Read, A.P.4
  • 18
    • 0027386022 scopus 로고
    • A helix-loop-helix transcription factor-like gene is located at the mi locus
    • Hughes, M.J., Lingrel, J.B., Krakowsky, J.M. and Anderson, K.P. (1993) A helix-loop-helix transcription factor-like gene is located at the mi locus. J. Biol. Chem., 268, 20687-20690.
    • (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
  • 19
    • 0011061648 scopus 로고
    • A cDNA encoding tyrosinase-related protein maps to the brown locus in mouse
    • Jackson, I.J. (1988) A cDNA encoding tyrosinase-related protein maps to the brown locus in mouse. Proc. Natl Acad Sci. USA, 85, 4392-4396.
    • (1988) Proc. Natl Acad Sci. USA , vol.85 , pp. 4392-4396
    • Jackson, I.J.1
  • 20
    • 0019949189 scopus 로고
    • Organization, distribution and stability of endogenous ecotropic murine leukemia virus DNA sequences in chromosomes of Mus musculus
    • Jenkins, N.A., Copeland, N.G., Taylor, B.A. and Lee, B.K. (1982) Organization, distribution and stability of endogenous ecotropic murine leukemia virus DNA sequences in chromosomes of Mus musculus. J. Virol., 43, 26-36.
    • (1982) J. Virol. , vol.43 , pp. 26-36
    • Jenkins, N.A.1    Copeland, N.G.2    Taylor, B.A.3    Lee, B.K.4
  • 21
    • 0025720710 scopus 로고
    • Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
    • Kajiwara, K., Hahn, L.B., Mukai, S., Travis, G.H., Berson, E.L. and Dryja, T.P. (1991) Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature, 354, 480-483.
    • (1991) Nature , vol.354 , pp. 480-483
    • Kajiwara, K.1    Hahn, L.B.2    Mukai, S.3    Travis, G.H.4    Berson, E.L.5    Dryja, T.P.6
  • 22
    • 0028245437 scopus 로고
    • Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS loci
    • Kajiwara, K., Berson, E.L. and Dryja, T.P. (1994) Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS loci. Science, 264, 1604-1608.
    • (1994) Science , vol.264 , pp. 1604-1608
    • Kajiwara, K.1    Berson, E.L.2    Dryja, T.P.3
  • 24
    • 0024272143 scopus 로고
    • Inherited retinal dystrophy in the RCS rat: Prevention of photoreceptor degeneration by pigment epithelial cell transplantation
    • Li, L. and Turner, J.E. (1988) Inherited retinal dystrophy in the RCS rat: prevention of photoreceptor degeneration by pigment epithelial cell transplantation. Exp. Eye Res., 47, 911-916.
    • (1988) Exp. Eye Res. , vol.47 , pp. 911-916
    • Li, L.1    Turner, J.E.2
  • 25
    • 0028908831 scopus 로고
    • Waardenburg syndrome type II: Phenotypic findings and diagnostic criteria
    • Liu, X.-Z., Newton, V.E. and Read, A.P. (1995) Waardenburg syndrome type II: phenotypic findings and diagnostic criteria, Am. J. Med. Genet., 55, 95-100.
    • (1995) Am. J. Med. Genet. , vol.55 , pp. 95-100
    • Liu, X.-Z.1    Newton, V.E.2    Read, A.P.3
  • 26
    • 0026648347 scopus 로고
    • Positive and negative elements regulate a melanocyte-specific promoter
    • Lowings, P., Yavuzer, U. and Goding, C.R. (1992) Positive and negative elements regulate a melanocyte-specific promoter. Mol. Cell. Biol., 12, 3653-3662.
    • (1992) Mol. Cell. Biol. , vol.12 , pp. 3653-3662
    • Lowings, P.1    Yavuzer, U.2    Goding, C.R.3
  • 27
    • 0027270053 scopus 로고
    • Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa
    • McLaughlin, M.E., Sandberg, M.A., Berson, E.L. and Dryja, T.P. (1993) Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nature Genet., 4, 130-134.
    • (1993) Nature Genet. , vol.4 , pp. 130-134
    • McLaughlin, M.E.1    Sandberg, M.A.2    Berson, E.L.3    Dryja, T.P.4
  • 28
    • 0028789866 scopus 로고
    • Insight into the microphthalmia gene
    • Moore, K.J. (1995) Insight into the microphthalmia gene. Trends Genet., 11, 442-448.
    • (1995) Trends Genet. , vol.11 , pp. 442-448
    • Moore, K.J.1
  • 29
    • 0014098516 scopus 로고
    • The eye and skeletal effects of two mutant alleles at the microphthalmia locus of Mus musculus
    • Packer, S.O. (1967) The eye and skeletal effects of two mutant alleles at the microphthalmia locus of Mus musculus. J. Exp. Zool., 165, 21-45.
    • (1967) J. Exp. Zool. , vol.165 , pp. 21-45
    • Packer, S.O.1
  • 30
    • 0026048137 scopus 로고
    • Structural organization of the pigment cell-specific gene located at the brown locus in mouse
    • Shibahara, S., Taguchi, H., Muller, R.M., Shibata, K., Cohen, T., Tomita, Y. and Tagami, H. (1991) Structural organization of the pigment cell-specific gene located at the brown locus in mouse. J. Biol. Chem., 266, 15895-15901.
    • (1991) J. Biol. Chem. , vol.266 , pp. 15895-15901
    • Shibahara, S.1    Taguchi, H.2    Muller, R.M.3    Shibata, K.4    Cohen, T.5    Tomita, Y.6    Tagami, H.7
  • 31
    • 0011772245 scopus 로고
    • Abnormalities of pigment epithelium precede photo-receptor cell degeneration in vitiligo mutant mice
    • Smirnakis, S.M., Tang, M. and Sidman, R.L. (1991) Abnormalities of pigment epithelium precede photo-receptor cell degeneration in vitiligo mutant mice. Invest. Opthal. Visual Sci., 32, 1056.
    • (1991) Invest. Opthal. Visual Sci. , vol.32 , pp. 1056
    • Smirnakis, S.M.1    Tang, M.2    Sidman, R.L.3
  • 32
    • 0027076760 scopus 로고
    • C57BL/6-vit/vit mouse model of retinal degeneration: Light microscopic analysis and evaluation of rhodopsin levels
    • Smith, S.B. (1992) C57BL/6-vit/vit mouse model of retinal degeneration: light microscopic analysis and evaluation of rhodopsin levels. Exp. Eye Res., 55, 903-910.
    • (1992) Exp. Eye Res. , vol.55 , pp. 903-910
    • Smith, S.B.1
  • 34
    • 0028091741 scopus 로고
    • Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences
    • Steingrímsson, E. et al. (1994) Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Nature Genet., 8, 256-263.
    • (1994) Nature Genet. , vol.8 , pp. 256-263
    • Steingrímsson, E.1
  • 35
    • 0028209856 scopus 로고
    • Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3
    • Tachibana, M. et al. (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.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 553-557
    • Tachibana, M.1
  • 36
    • 0030068826 scopus 로고    scopus 로고
    • The recessive phenotype displayed by a dominant negative microphthalmia-associated transcription factor mutant is a result of impaired nuclear localization potential
    • Takebayashi, K., Chida, K., Tsukumoto, I., Morii, E., Munakata, H., Arnheiter, H., Kuroki, T., Kitamura, Y. and Nomura, S. (1996) 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) Mol. Cell. Biol. , vol.16 , pp. 1203-1211
    • Takebayashi, K.1    Chida, K.2    Tsukumoto, I.3    Morii, E.4    Munakata, H.5    Arnheiter, H.6    Kuroki, T.7    Kitamura, Y.8    Nomura, S.9
  • 37
    • 0027943189 scopus 로고
    • Waardenburg syndrome type 2 caused by mutations in the human micraphthalmia (MITF) gene
    • Tassabehji, M., Newton, V.E. and Read, A.P. (1994) Waardenburg syndrome type 2 caused by mutations in the human micraphthalmia (MITF) gene. Nature Genet., 8, 251-255.
    • (1994) Nature Genet. , vol.8 , pp. 251-255
    • Tassabehji, M.1    Newton, V.E.2    Read, A.P.3
  • 39
    • 0025341295 scopus 로고
    • Mutations that disrupt DNA binding and dimer formation in the E47 helix-loop-helix protein map to distinct domains
    • Voronova, A. and Baltimore, D. (1990) Mutations that disrupt DNA binding and dimer formation in the E47 helix-loop-helix protein map to distinct domains. Proc. Natl Acad. Sci. USA, 87, 4722-4726.
    • (1990) Proc. Natl Acad. Sci. USA , vol.87 , pp. 4722-4726
    • Voronova, A.1    Baltimore, D.2
  • 41
    • 0013217853 scopus 로고
    • Mi-spotted: A mutation in the mouse
    • Wolfe, H.G. and Coleman, D.L. (1964) Mi-spotted: a mutation in the mouse. Genet. Res. Camb., 5, 432-440.
    • (1964) Genet. Res. Camb. , vol.5 , pp. 432-440
    • Wolfe, H.G.1    Coleman, D.L.2
  • 42
    • 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., Tomita, Y. and Shibahara, S. (1994) Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene. Mol. Cell. Biol., 14, 8058-8070.
    • (1994) Mol. Cell. Biol. , vol.14 , pp. 8058-8070
    • Yasumoto, K.1    Yokoyama, K.2    Shibata, K.3    Tomita, Y.4    Shibahara, S.5
  • 43
    • 0028027790 scopus 로고
    • Cloning of the human DOPAchrome tautomerase/tyrosinase-related protein 2 gene and identification of two regulatory regions required for its pigment cell-specific expression
    • Yokoyama, K., Yasumoto, K., Suzuki, H. and Shibahara, S. (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.
    • (1994) J. Biol. Chem. , vol.269 , pp. 27080-27087
    • Yokoyama, K.1    Yasumoto, K.2    Suzuki, H.3    Shibahara, S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.