메뉴 건너뛰기




Volumn 37, Issue 19, 2009, Pages 6477-6490

MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE CHANNEL; MUSCLEBLIND LIKE PROTEIN; PROTEIN CELF; REGULATOR PROTEIN; UNCLASSIFIED DRUG;

EID: 71049162902     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gkp681     Document Type: Article
Times cited : (78)

References (57)
  • 2
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
    • Brook,J.D., McCurrach,M.E., Harley,H.G., Buckler,A.J., Church,D., Aburatani,H., Hunter,K., Stanton,V.P., Thirion,J.P., Hudson,T. et al. (1992) Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell, 68, 799-808.
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3    Buckler, A.J.4    Church, D.5    Aburatani, H.6    Hunter, K.7    Stanton, V.P.8    Thirion, J.P.9    Hudson, T.10
  • 7
    • 0028947317 scopus 로고
    • Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
    • Taneja,K.L., McCurrach,M., Schalling,M., Housman,D. and Singer,R.H. (1995) Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J. Cell Biol., 128, 995-1002.
    • (1995) J. Cell Biol , vol.128 , pp. 995-1002
    • Taneja, K.L.1    McCurrach, M.2    Schalling, M.3    Housman, D.4    Singer, R.H.5
  • 8
    • 0030841672 scopus 로고    scopus 로고
    • Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts
    • Davis,B.M., McCurrach,M.E., Taneja,K.L., Singer,R.H. and Housman,D.E. (1997) Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proc. Natl Acad. Sci. USA, 94 7388-7393.
    • (1997) Proc. Natl Acad. Sci. USA , vol.94 , pp. 7388-7393
    • Davis, B.M.1    McCurrach, M.E.2    Taneja, K.L.3    Singer, R.H.4    Housman, D.E.5
  • 9
    • 0032076126 scopus 로고    scopus 로고
    • Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
    • Philips,A.V., Timchenko,L.T. and Cooper,T.A. (1998) Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science, 280, 737-741.
    • (1998) Science , vol.280 , pp. 737-741
    • Philips, A.V.1    Timchenko, L.T.2    Cooper, T.A.3
  • 10
    • 0034873099 scopus 로고    scopus 로고
    • Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
    • Savkur,R.S., Philips,A.V. and Cooper,T.A. (2001) Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat. Genet., 29, 40-47.
    • (2001) Nat. Genet , vol.29 , pp. 40-47
    • Savkur, R.S.1    Philips, A.V.2    Cooper, T.A.3
  • 11
    • 0036347927 scopus 로고    scopus 로고
    • Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing
    • Charlet-B,N., Savkur,R.S., Singh,G., Philips,A.V., Grice,E.A. and Cooper,T.A. (2002) Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol. Cell, 10, 45-53.
    • (2002) Mol. Cell , vol.10 , pp. 45-53
    • Charlet-B, N.1    Savkur, R.S.2    Singh, G.3    Philips, A.V.4    Grice, E.A.5    Cooper, T.A.6
  • 12
    • 0036347525 scopus 로고    scopus 로고
    • Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy
    • Mankodi,A., Takahashi,M.P., Jiang,H., Beck,C.L., Bowers,W.J., Moxley,R.T., Cannon,S.C. and Thornton,C.A. (2002) Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol. Cell 10, 35-44.
    • (2002) Mol. Cell , vol.10 , pp. 35-44
    • Mankodi, A.1    Takahashi, M.P.2    Jiang, H.3    Beck, C.L.4    Bowers, W.J.5    Moxley, R.T.6    Cannon, S.C.7    Thornton, C.A.8
  • 17
    • 33748373580 scopus 로고    scopus 로고
    • RNA-mediated neuromuscular disorders
    • Ranum,L.P. and Cooper,T.A. (2006) RNA-mediated neuromuscular disorders. Annu. Rev. Neurosci., 29, 259-277.
    • (2006) Annu. Rev. Neurosci , vol.29 , pp. 259-277
    • Ranum, L.P.1    Cooper, T.A.2
  • 18
    • 0030725752 scopus 로고    scopus 로고
    • muscleblind, a gene required for photoreceptor differentiation in Drosophila, encodes novel nuclear Cys3His-type zinc-finger-containing proteins
    • Begemann,G., Paricio,N., Artero,R., Kiss,I., Perez-Alonso,M. and Mlodzik,M. (1997) muscleblind, a gene required for photoreceptor differentiation in Drosophila, encodes novel nuclear Cys3His-type zinc-finger-containing proteins. Development, 124, 4321-4331.
    • (1997) Development , vol.124 , pp. 4321-4331
    • Begemann, G.1    Paricio, N.2    Artero, R.3    Kiss, I.4    Perez-Alonso, M.5    Mlodzik, M.6
  • 19
    • 0032520994 scopus 로고    scopus 로고
    • The muscleblind gene participates in the organization of Z-bands and epidermal attachments of Drosophila muscles and is regulated by Dmef2
    • Artero,R., Prokop,A., Paricio,N., Begemann,G., Pueyo,I., Mlodzik,M., Perez-Alonso,M. and Baylies,M.K. (1998) The muscleblind gene participates in the organization of Z-bands and epidermal attachments of Drosophila muscles and is regulated by Dmef2. Dev. Biol., 195 131-143.
    • (1998) Dev. Biol , vol.195 , pp. 131-143
    • Artero, R.1    Prokop, A.2    Paricio, N.3    Begemann, G.4    Pueyo, I.5    Mlodzik, M.6    Perez-Alonso, M.7    Baylies, M.K.8
  • 20
    • 0036537492 scopus 로고    scopus 로고
    • Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
    • Fardaei,M., Rogers,M.T., Thorpe,H.M., Larkin,K., Hamshere,M.G., Harper,P.S. and Brook,J.D. (2002) Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Hum. Mol. Genet., 11, 805-814.
    • (2002) Hum. Mol. Genet , vol.11 , pp. 805-814
    • Fardaei, M.1    Rogers, M.T.2    Thorpe, H.M.3    Larkin, K.4    Hamshere, M.G.5    Harper, P.S.6    Brook, J.D.7
  • 25
    • 14044252328 scopus 로고    scopus 로고
    • MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1
    • Dansithong,W., Paul,S., Comai,L. and Reddy,S. (2005) MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1. J. Biol. Chem., 280, 5773-5780.
    • (2005) J. Biol. Chem , vol.280 , pp. 5773-5780
    • Dansithong, W.1    Paul, S.2    Comai, L.3    Reddy, S.4
  • 26
    • 0035146628 scopus 로고    scopus 로고
    • The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing
    • Ladd,A.N., Charlet,N. and Cooper,T.A. (2001) The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing. Mol. Cell Biol., 21, 1285-1296.
    • (2001) Mol. Cell Biol , vol.21 , pp. 1285-1296
    • Ladd, A.N.1    Charlet, N.2    Cooper, T.A.3
  • 28
    • 0035861728 scopus 로고    scopus 로고
    • Novel role for RNA-binding protein CUGBP2 in mammalian RNA editing. CUGBP2 modulates C to U editing of apolipoprotein B mRNA by interacting with apobec-1 and ACF, the apobec-1 complementation factor
    • Anant,S., Henderson,J.O., Mukhopadhyay,D., Navaratnam,N., Kennedy,S., Min,J. and Davidson,N.O. (2001) Novel role for RNA-binding protein CUGBP2 in mammalian RNA editing. CUGBP2 modulates C to U editing of apolipoprotein B mRNA by interacting with apobec-1 and ACF, the apobec-1 complementation factor. J. Biol. Chem., 276, 47338-47351.
    • (2001) J. Biol. Chem , vol.276 , pp. 47338-47351
    • Anant, S.1    Henderson, J.O.2    Mukhopadhyay, D.3    Navaratnam, N.4    Kennedy, S.5    Min, J.6    Davidson, N.O.7
  • 29
    • 0037245474 scopus 로고    scopus 로고
    • Coupled mRNA stabilization and translational silencing of cyclooxygenase-2 by a novel RNA binding protein, CUGBP2
    • Mukhopadhyay,D., Houchen,C.W., Kennedy,S., Dieckgraefe,B.K. and Anant,S. (2003) Coupled mRNA stabilization and translational silencing of cyclooxygenase-2 by a novel RNA binding protein, CUGBP2. Mol. Cell 11, 113-126.
    • (2003) Mol. Cell , vol.11 , pp. 113-126
    • Mukhopadhyay, D.1    Houchen, C.W.2    Kennedy, S.3    Dieckgraefe, B.K.4    Anant, S.5
  • 30
  • 31
    • 34948834723 scopus 로고    scopus 로고
    • Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation
    • Kuyumcu-Martinez,N.M., Wang,G.S. and Cooper,T.A. (2007) Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Mol. Cell, 28, 68-78.
    • (2007) Mol. Cell , vol.28 , pp. 68-78
    • Kuyumcu-Martinez, N.M.1    Wang, G.S.2    Cooper, T.A.3
  • 32
    • 1842529234 scopus 로고    scopus 로고
    • Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis
    • Timchenko,N.A., Patel,R., Iakova,P., Cai,Z.J., Quan,L. and Timchenko,L.T. (2004) Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis. J. Biol. Chem., 279, 13129-13139.
    • (2004) J. Biol. Chem , vol.279 , pp. 13129-13139
    • Timchenko, N.A.1    Patel, R.2    Iakova, P.3    Cai, Z.J.4    Quan, L.5    Timchenko, L.T.6
  • 33
    • 20444452898 scopus 로고    scopus 로고
    • Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy
    • Ho,T.H., Bundman,D., Armstrong,D.L. and Cooper,T.A. (2005) Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy. Hum. Mol. Genet., 14, 1539-1547.
    • (2005) Hum. Mol. Genet , vol.14 , pp. 1539-1547
    • Ho, T.H.1    Bundman, D.2    Armstrong, D.L.3    Cooper, T.A.4
  • 34
    • 0036727647 scopus 로고    scopus 로고
    • Genetic disorders of neuromuscular ion channels
    • Kleopa,K.A. and Barchi,R.L. (2002) Genetic disorders of neuromuscular ion channels. Muscle Nerve, 26, 299-325.
    • (2002) Muscle Nerve , vol.26 , pp. 299-325
    • Kleopa, K.A.1    Barchi, R.L.2
  • 35
    • 0036193436 scopus 로고    scopus 로고
    • Myotonia caused by mutations in the muscle chloride channel gene CLCN1
    • Pusch,M. (2002) Myotonia caused by mutations in the muscle chloride channel gene CLCN1. Hum. Mutat., 19, 423-434.
    • (2002) Hum. Mutat , vol.19 , pp. 423-434
    • Pusch, M.1
  • 36
    • 11144260152 scopus 로고    scopus 로고
    • Truncated ClC-1 mRNA in myotonic dystrophy exerts a dominant-negative effect on the Cl current
    • Berg,J., Jiang,H., Thornton,C.A. and Cannon,S.C. (2004) Truncated ClC-1 mRNA in myotonic dystrophy exerts a dominant-negative effect on the Cl current. Neurology, 63, 2371-2375.
    • (2004) Neurology , vol.63 , pp. 2371-2375
    • Berg, J.1    Jiang, H.2    Thornton, C.A.3    Cannon, S.C.4
  • 37
    • 33746796393 scopus 로고    scopus 로고
    • Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy
    • Kanadia,R.N., Shin,J., Yuan,Y., Beattie,S.G., Wheeler,T.M., Thornton,C.A. and Swanson,M.S. (2006) Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Proc. Natl Acad. Sci. USA, 103, 11748-11753.
    • (2006) Proc. Natl Acad. Sci. USA , vol.103 , pp. 11748-11753
    • Kanadia, R.N.1    Shin, J.2    Yuan, Y.3    Beattie, S.G.4    Wheeler, T.M.5    Thornton, C.A.6    Swanson, M.S.7
  • 38
    • 36849035575 scopus 로고    scopus 로고
    • Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy
    • Wheeler,T.M., Lueck,J.D., Swanson,M.S., Dirksen,R.T. and Thornton,C.A. (2007) Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J. Clin. Invest. 117, 3952-3957.
    • (2007) J. Clin. Invest , vol.117 , pp. 3952-3957
    • Wheeler, T.M.1    Lueck, J.D.2    Swanson, M.S.3    Dirksen, R.T.4    Thornton, C.A.5
  • 39
    • 40649083064 scopus 로고    scopus 로고
    • Expanded CTG repeats within the DMPK 30 UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy
    • Orengo,J.P., Chambon,P., Metzger,D., Mosier,D.R., Snipes,G.J. and Cooper,T.A. (2008) Expanded CTG repeats within the DMPK 30 UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy. Proc. Natl Acad. Sci. USA, 105, 2646-2651.
    • (2008) Proc. Natl Acad. Sci. USA , vol.105 , pp. 2646-2651
    • Orengo, J.P.1    Chambon, P.2    Metzger, D.3    Mosier, D.R.4    Snipes, G.J.5    Cooper, T.A.6
  • 42
    • 0036354884 scopus 로고    scopus 로고
    • Reversible cross-linking combined with immuno-precipitation to study RNA-protein interactions in vivo
    • Niranjanakumari,S., Lasda,E., Brazas,R. and Garcia-Blanco,M.A. (2002) Reversible cross-linking combined with immuno-precipitation to study RNA-protein interactions in vivo. Methods, 26, 182-190.
    • (2002) Methods , vol.26 , pp. 182-190
    • Niranjanakumari, S.1    Lasda, E.2    Brazas, R.3    Garcia-Blanco, M.A.4
  • 43
    • 2342417323 scopus 로고    scopus 로고
    • CELF6, a member of the CELF family of RNA-binding proteins, regulates muscle-specific splicing enhancer-dependent alternative splicing
    • Ladd,A.N., Nguyen,N.H., Malhotra,K. and Cooper,T.A. (2004) CELF6, a member of the CELF family of RNA-binding proteins, regulates muscle-specific splicing enhancer-dependent alternative splicing. J. Biol. Chem., 279, 17756-17764.
    • (2004) J. Biol. Chem , vol.279 , pp. 17756-17764
    • Ladd, A.N.1    Nguyen, N.H.2    Malhotra, K.3    Cooper, T.A.4
  • 44
    • 36248932588 scopus 로고    scopus 로고
    • MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin T
    • Warf,M.B. and Berglund,J.A. (2007) MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin T. RNA, 13, 2238-2251.
    • (2007) RNA , vol.13 , pp. 2238-2251
    • Warf, M.B.1    Berglund, J.A.2
  • 46
    • 0042121256 scopus 로고    scopus 로고
    • Mfold web server for nucleic acid folding and hybridization prediction
    • Zuker,M. (2003) Mfold web server for nucleic acid folding and hybridization prediction. Nucleic Acids Res., 31, 3406-3415.
    • (2003) Nucleic Acids Res , vol.31 , pp. 3406-3415
    • Zuker, M.1
  • 48
  • 52
    • 33947321525 scopus 로고    scopus 로고
    • Haploinsuffciency for Znf9 in Znf9+/- mice is associated with multiorgan abnormalities resembling myotonic dystrophy
    • Chen,W., Wang,Y., Abe,Y., Cheney,L., Udd,B. and Li,Y.P. (2007) Haploinsuffciency for Znf9 in Znf9+/- mice is associated with multiorgan abnormalities resembling myotonic dystrophy. J. Mol. Biol., 368 8-17.
    • (2007) J. Mol. Biol , vol.368 , pp. 8-17
    • Chen, W.1    Wang, Y.2    Abe, Y.3    Cheney, L.4    Udd, B.5    Li, Y.P.6
  • 55
    • 0028895417 scopus 로고
    • Exon recognition in vertebrate splicing
    • Berget,S.M. (1995) Exon recognition in vertebrate splicing. J. Biol. Chem., 270, 2411-2314.
    • (1995) J. Biol. Chem , vol.270 , pp. 2411-2314
    • Berget, S.M.1
  • 56
    • 0034161419 scopus 로고    scopus 로고
    • Exonic splicing enhancers: Mechanism of action, diversity and role in human genetic diseases
    • Blencowe,B.J. (2000) Exonic splicing enhancers: Mechanism of action, diversity and role in human genetic diseases. Trends Biochem. Sci. 25, 106-110.
    • (2000) Trends Biochem. Sci , vol.25 , pp. 106-110
    • Blencowe, B.J.1
  • 57
    • 0042242582 scopus 로고    scopus 로고
    • ESEfinder: A web resource to identify exonic splicing enhancers
    • Cartegni,L., Wang,J., Zhu,Z., Zhang,M.Q. and Krainer,A.R. (2003) ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res., 31, 3568-3571.
    • (2003) Nucleic Acids Res , vol.31 , pp. 3568-3571
    • Cartegni, L.1    Wang, J.2    Zhu, Z.3    Zhang, M.Q.4    Krainer, A.R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.