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Volumn 53, Issue 1, 2003, Pages 125-131

Heterogous dystrophin mRNA produced by a novel splice acceptor site mutation in intermediate dystrophinopathy

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; DYSTROPHIN; MESSENGER RNA; NUCLEOTIDE;

EID: 12244307905     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-200301000-00021     Document Type: Article
Times cited : (19)

References (38)
  • 2
    • 0027537918 scopus 로고
    • The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history
    • Bushby KM, Gardner-Medwin D 1993 The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history. J Neurol 240:98-104
    • (1993) J Neurol , vol.240 , pp. 98-104
    • Bushby, K.M.1    Gardner-Medwin, D.2
  • 3
    • 0020522923 scopus 로고
    • Clinical investigation in Duchenne dystrophy: 2. Determination of the "power" of therapeutic trials based on the natural history
    • Brooke MH, Fenichel GM, Griggs RC, Mendell JR, Moxley R, Miller JP, Province MA 1983 Clinical investigation in Duchenne dystrophy: 2. Determination of the "power" of therapeutic trials based on the natural history. Muscle Nerve 6:91-103
    • (1983) Muscle Nerve , vol.6 , pp. 91-103
    • Brooke, M.H.1    Fenichel, G.M.2    Griggs, R.C.3    Mendell, J.R.4    Moxley, R.5    Miller, J.P.6    Province, M.A.7
  • 4
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    • Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM 1987 Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50:509-517
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Hoffman, E.P.2    Bertelson, C.J.3    Monaco, A.P.4    Feener, C.5    Kunkel, L.M.6
  • 5
    • 0023718118 scopus 로고
    • An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
    • Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM 1988 An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2:90-95
    • (1988) Genomics , vol.2 , pp. 90-95
    • Monaco, A.P.1    Bertelson, C.J.2    Liechti-Gallati, S.3    Moser, H.4    Kunkel, L.M.5
  • 8
    • 0030725216 scopus 로고    scopus 로고
    • Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy
    • Shiga N, Takeshima Y, Sakamoto H, Inoue K, Yokota Y, Yokoyama M, Matsuo M 1997 Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy. J Clin Invest 100:2204-2210
    • (1997) J Clin Invest , vol.100 , pp. 2204-2210
    • Shiga, N.1    Takeshima, Y.2    Sakamoto, H.3    Inoue, K.4    Yokota, Y.5    Yokoyama, M.6    Matsuo, M.7
  • 10
    • 0026343877 scopus 로고
    • Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes
    • Roberts RG, Barby TF, Manners E, Bobrow M, Bentley DR 1991 Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes. Am J Hum Genet 49:298-310
    • (1991) Am J Hum Genet , vol.49 , pp. 298-310
    • Roberts, R.G.1    Barby, T.F.2    Manners, E.3    Bobrow, M.4    Bentley, D.R.5
  • 11
    • 0026046262 scopus 로고
    • Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy Kobe
    • Matsuo M, Masumura T, Nishio H, Nakajima T, Kitoh Y, Takumi T, Koga J, Nakamura H 1991 Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy Kobe. J Clin Invest 87:2127-2131
    • (1991) J Clin Invest , vol.87 , pp. 2127-2131
    • Matsuo, M.1    Masumura, T.2    Nishio, H.3    Nakajima, T.4    Kitoh, Y.5    Takumi, T.6    Koga, J.7    Nakamura, H.8
  • 12
    • 0031900882 scopus 로고    scopus 로고
    • Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: From Southern blot to protein truncation test
    • Tuffery S, Chambert S, Bareil C, Sarda P, Coubes C, Echenne B, Demaille J, Claustres M 1998 Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: From Southern blot to protein truncation test. Hum Genet 102:334-342
    • (1998) Hum Genet , vol.102 , pp. 334-342
    • Tuffery, S.1    Chambert, S.2    Bareil, C.3    Sarda, P.4    Coubes, C.5    Echenne, B.6    Demaille, J.7    Claustres, M.8
  • 13
    • 0035094729 scopus 로고    scopus 로고
    • Novel dystrophin mutations revealed by analysis of dystrophin mRNA: Alternative splicing suppresses the phenotypic effect of a nonsense mutation
    • Fajkusova L, Lukas Z, Tvrdikova M, Kuhrova VV, Hajek J, Fajkus J 2001 Novel dystrophin mutations revealed by analysis of dystrophin mRNA: Alternative splicing suppresses the phenotypic effect of a nonsense mutation. Neuromuscul Disord 11:133-138
    • (2001) Neuromuscul Disord , vol.11 , pp. 133-138
    • Fajkusova, L.1    Lukas, Z.2    Tvrdikova, M.3    Kuhrova, V.V.4    Hajek, J.5    Fajkus, J.6
  • 14
    • 0023651307 scopus 로고
    • RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
    • Shapiro MB, Senapathy P 1987 RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155-7174
    • (1987) Nucleic Acids Res , vol.15 , pp. 7155-7174
    • Shapiro, M.B.1    Senapathy, P.2
  • 15
    • 0028222873 scopus 로고
    • Construction of a novel database containing aberrant splicing mutations of mammalian genes
    • Nakai K, Sakamoto H 1994 Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene 141:171-177
    • (1994) Gene , vol.141 , pp. 171-177
    • Nakai, K.1    Sakamoto, H.2
  • 16
    • 0027470203 scopus 로고
    • The structural and functional diversity of dystrophin
    • Ahn AH, Kunkel LM 1993 The structural and functional diversity of dystrophin. Nat Genet 3:283-291
    • (1993) Nat Genet , vol.3 , pp. 283-291
    • Ahn, A.H.1    Kunkel, L.M.2
  • 17
    • 0027936780 scopus 로고
    • Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter
    • Nishio H, Takeshima Y, Narita N, Yanagawa H, Suzuki Y, Ishikawa Y, Minami R, Nakamura H, Matsuo M 1994 Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter. J Clin Invest 94:1037-1042
    • (1994) J Clin Invest , vol.94 , pp. 1037-1042
    • Nishio, H.1    Takeshima, Y.2    Narita, N.3    Yanagawa, H.4    Suzuki, Y.5    Ishikawa, Y.6    Minami, R.7    Nakamura, H.8    Matsuo, M.9
  • 19
    • 0031955191 scopus 로고    scopus 로고
    • Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis
    • Ikezawa M, Minami N, Takahashi M, Goto Y, Miike T, Nonaka I 1998 Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis. Brain Dev 20:165-168
    • (1998) Brain Dev , vol.20 , pp. 165-168
    • Ikezawa, M.1    Minami, N.2    Takahashi, M.3    Goto, Y.4    Miike, T.5    Nonaka, I.6
  • 20
    • 0032756947 scopus 로고    scopus 로고
    • Point mutations in the dystrophin gene: Evidence for frequent use of cryptic splice sites as a result of splicing defects
    • Tuffery-Giraud S, Chambert S, Demaille J, Claustres M 1999 Point mutations in the dystrophin gene: Evidence for frequent use of cryptic splice sites as a result of splicing defects. Hum Mutat 14:359-368
    • (1999) Hum Mutat , vol.14 , pp. 359-368
    • Tuffery-Giraud, S.1    Chambert, S.2    Demaille, J.3    Claustres, M.4
  • 21
    • 0033365194 scopus 로고    scopus 로고
    • Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: Influence of intron splice order on outcome of splice-site mutation
    • Schwarze U, Starman BJ, Byers PH 1999 Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: Influence of intron splice order on outcome of splice-site mutation. Am J Hum Genet 65:336-344
    • (1999) Am J Hum Genet , vol.65 , pp. 336-344
    • Schwarze, U.1    Starman, B.J.2    Byers, P.H.3
  • 22
    • 0035869377 scopus 로고    scopus 로고
    • Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G->T
    • Attanasio C, de Moerloose P, Antonarakis SE, Morris MA, Neerman-Arbez M 2001 Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G->T. Blood 97:1879-1881
    • (2001) Blood , vol.97 , pp. 1879-1881
    • Attanasio, C.1    De Moerloose, P.2    Antonarakis, S.E.3    Morris, M.A.4    Neerman-Arbez, M.5
  • 24
    • 0032976697 scopus 로고    scopus 로고
    • Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing
    • Surono A, Takeshima Y, Wibawa T, Ikezawa M, Nonaka I, Matsuo M 1999 Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing. Hum Mol Genet 8:493-500
    • (1999) Hum Mol Genet , vol.8 , pp. 493-500
    • Surono, A.1    Takeshima, Y.2    Wibawa, T.3    Ikezawa, M.4    Nonaka, I.5    Matsuo, M.6
  • 28
    • 0027484533 scopus 로고
    • Point mutations at the carboxy terminus of the human dystrophin gene: Implications for an association with mental retardation in DMD patients
    • Lenk U, Hanke R, Thiele H, Speer A 1993 Point mutations at the carboxy terminus of the human dystrophin gene: Implications for an association with mental retardation in DMD patients. Hum Mol Genet 2:1877-1881
    • (1993) Hum Mol Genet , vol.2 , pp. 1877-1881
    • Lenk, U.1    Hanke, R.2    Thiele, H.3    Speer, A.4
  • 29
    • 0028303798 scopus 로고
    • Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations
    • Roberts RG, Gardner RJ, Bobrow M 1994 Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations. Hum Mutat 4:1-11
    • (1994) Hum Mutat , vol.4 , pp. 1-11
    • Roberts, R.G.1    Gardner, R.J.2    Bobrow, M.3
  • 30
    • 0034904757 scopus 로고    scopus 로고
    • Analysis of splicing parameters in the dystrophin gene: Relevance for physiological and pathogenetic splicing mechanisms
    • Sironi M, Pozzoli U, Cagliani R, Comi GP, Bardoni A, Bresolin N 2001 Analysis of splicing parameters in the dystrophin gene: Relevance for physiological and pathogenetic splicing mechanisms. Hum Genet 109:73-84
    • (2001) Hum Genet , vol.109 , pp. 73-84
    • Sironi, M.1    Pozzoli, U.2    Cagliani, R.3    Comi, G.P.4    Bardoni, A.5    Bresolin, N.6
  • 31
    • 0033525169 scopus 로고    scopus 로고
    • A perfect message: RNA surveillance and nonsense-mediated decay
    • Hentze MW, Kulozik AE 1999 A perfect message: RNA surveillance and nonsense-mediated decay. Cell 96:307-310
    • (1999) Cell , vol.96 , pp. 307-310
    • Hentze, M.W.1    Kulozik, A.E.2
  • 32
    • 0034646299 scopus 로고    scopus 로고
    • Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation
    • Wibawa T, Takeshima Y, Mitsuyoshi I, Wuda H, Surono A, Nakamura H, Matsuo M 2000 Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation. Brain Dev 22:107-112
    • (2000) Brain Dev , vol.22 , pp. 107-112
    • Wibawa, T.1    Takeshima, Y.2    Mitsuyoshi, I.3    Wuda, H.4    Surono, A.5    Nakamura, H.6    Matsuo, M.7
  • 33
    • 0036280727 scopus 로고    scopus 로고
    • Duchenne and Becker muscular dystrophy: From gene diagnosis to molecular therapy
    • Matsuo M 2002 Duchenne and Becker muscular dystrophy: From gene diagnosis to molecular therapy. IUBMB Life 53:1-6
    • (2002) IUBMB Life , vol.53 , pp. 1-6
    • Matsuo, M.1
  • 34
    • 0031975894 scopus 로고    scopus 로고
    • Novel nonsense mutation (C->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy
    • Melis MA, Muntoni F, Cau M, Loi D, Puddu A, Boccone L, Mateddu A, Cianchetti C, Cao A 1998 Novel nonsense mutation (C->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy. Hum Mutat (suppl 1):S137-S138
    • (1998) Hum Mutat , Issue.SUPPL. 1
    • Melis, M.A.1    Muntoni, F.2    Cau, M.3    Loi, D.4    Puddu, A.5    Boccone, L.6    Mateddu, A.7    Cianchetti, C.8    Cao, A.9
  • 35
    • 0030582315 scopus 로고    scopus 로고
    • Induction of exon skipping of the dystrophin transcript in lymphoblastoid cells by transfecting an antisense oligodeoxynucleotide complementary to an exon recognition sequence
    • Pramono ZA, Takeshima Y, Alimsardjono H, Ishii A, Takeda S, Matsuo M 1996 Induction of exon skipping of the dystrophin transcript in lymphoblastoid cells by transfecting an antisense oligodeoxynucleotide complementary to an exon recognition sequence. Biochem Biophys Res Commun 226: 445-449
    • (1996) Biochem Biophys Res Commun , vol.226 , pp. 445-449
    • Pramono, Z.A.1    Takeshima, Y.2    Alimsardjono, H.3    Ishii, A.4    Takeda, S.5    Matsuo, M.6
  • 36
    • 0035196165 scopus 로고    scopus 로고
    • Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient
    • Takeshima Y, Yagi M, Ishikawa Y, Ishikawa Y, Minami R, Nakamura H, Matsuo M 2001 Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient. Brain Dev 23:788-798
    • (2001) Brain Dev , vol.23 , pp. 788-798
    • Takeshima, Y.1    Yagi, M.2    Ishikawa, Y.3    Ishikawa, Y.4    Minami, R.5    Nakamura, H.6    Matsuo, M.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.