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Volumn 315, Issue 2, 2004, Pages 381-388

An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy

Author keywords

Alternative pre mRNA splicing; Exon 7; Exonic splicing enhancer; SMN genes; Spinal muscular atrophy

Indexed keywords

HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; ISOPROTEIN; SURVIVAL MOTOR NEURON PROTEIN;

EID: 0842289003     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbrc.2004.01.067     Document Type: Article
Times cited : (100)

References (28)
  • 1
    • 0037062982 scopus 로고    scopus 로고
    • Alternative pre-mRNA splicing and proteome expansion in metazoans
    • Maniatis T., Tasic B. Alternative pre-mRNA splicing and proteome expansion in metazoans. Nature. 418:2002;236-243.
    • (2002) Nature , vol.418 , pp. 236-243
    • Maniatis, T.1    Tasic, B.2
  • 2
    • 0001468848 scopus 로고    scopus 로고
    • Splicing of precursors to mRNAs by the spliceosomes
    • R.F. Gesteland, & J.F. Atkins. Cold Spring Harbor, New York: Cold Spring Harbor Laboratory Press
    • Burge C.B., Tuschl T., Sharp P.A. Splicing of precursors to mRNAs by the spliceosomes. Gesteland R.F., Atkins J.F. The RNA World. 1999;525-560 Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York.
    • (1999) The RNA World , pp. 525-560
    • Burge, C.B.1    Tuschl, T.2    Sharp, P.A.3
  • 3
    • 0042671357 scopus 로고    scopus 로고
    • Pre-mRNA splicing: Awash in a sea of proteins
    • Jurica M.S., Moore M.J. Pre-mRNA splicing: awash in a sea of proteins. Mol. Cell. 12:2003;5-14.
    • (2003) Mol. Cell , vol.12 , pp. 5-14
    • Jurica, M.S.1    Moore, M.J.2
  • 4
    • 0033152209 scopus 로고    scopus 로고
    • Determinants of SR protein specificity
    • Tacke R., Manley J.L. Determinants of SR protein specificity. Curr. Opin. Cell Biol. 3:1999;358-362.
    • (1999) Curr. Opin. Cell Biol. , vol.3 , pp. 358-362
    • Tacke, R.1    Manley, J.L.2
  • 5
    • 0033835333 scopus 로고    scopus 로고
    • Sorting out the complexity of SR protein functions
    • Graveley B.R. Sorting out the complexity of SR protein functions. RNA. 6:2000;1197-1211.
    • (2000) RNA , vol.6 , pp. 1197-1211
    • Graveley, B.R.1
  • 6
    • 0034256020 scopus 로고    scopus 로고
    • Alternative pre-mRNA splicing: The logic of combinatorial control
    • Smith C.W.J., Valcárcel J. Alternative pre-mRNA splicing: the logic of combinatorial control. Trends Biochem. Sci. 25:2000;381-388.
    • (2000) Trends Biochem. Sci. , vol.25 , pp. 381-388
    • Smith, C.W.J.1    Valcárcel, J.2
  • 7
    • 0036207384 scopus 로고    scopus 로고
    • Listening to silence and understanding nonsense: Exonic mutations that affect splicing
    • Cartegni L., Chew S.L., Krainer A.R. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat. Rev. Genet. 3:2002;285-298.
    • (2002) Nat. Rev. Genet. , vol.3 , pp. 285-298
    • Cartegni, L.1    Chew, S.L.2    Krainer, A.R.3
  • 8
    • 0037047644 scopus 로고    scopus 로고
    • Predictive identification of exonic splicing enhancers in human genes
    • Fairbrother W.G., Yeh R.F., Sharp P.A., Burge C.B. Predictive identification of exonic splicing enhancers in human genes. Science. 297:2002;1007-1013.
    • (2002) Science , vol.297 , pp. 1007-1013
    • Fairbrother, W.G.1    Yeh, R.F.2    Sharp, P.A.3    Burge, C.B.4
  • 11
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    • Lorson C.L., Hahnen E., Androphy E.J., Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc. Natl. Acad. Sci. USA. 96:1999;6307-6311.
    • (1999) Proc. Natl. Acad. Sci. USA , vol.96 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3    Wirth, B.4
  • 14
    • 0033983258 scopus 로고    scopus 로고
    • An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
    • Lorson C.L., Androphy E.J. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum. Mol. Genet. 9:2000;259-265.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 259-265
    • Lorson, C.L.1    Androphy, E.J.2
  • 15
    • 0034662922 scopus 로고    scopus 로고
    • Htra2-β1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
    • Hofmann Y., Lorson C.L., Stamm S., Androphy E.J., Wirth B. Htra2-β1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Proc. Natl. Acad. Sci. USA. 97:2000;9618-9623.
    • (2000) Proc. Natl. Acad. Sci. USA , vol.97 , pp. 9618-9623
    • Hofmann, Y.1    Lorson, C.L.2    Stamm, S.3    Androphy, E.J.4    Wirth, B.5
  • 16
    • 0037101846 scopus 로고    scopus 로고
    • HnRNP-G promotes exon 7 inclusion of survival of motor neuron (SMN) via direct interaction with Htra2-β1
    • Hofmann Y., Wirth B. hnRNP-G promotes exon 7 inclusion of survival of motor neuron (SMN) via direct interaction with Htra2-β1. Hum. Mol. Genet. 11:2002;2037-2049.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 2037-2049
    • Hofmann, Y.1    Wirth, B.2
  • 17
    • 0036501065 scopus 로고    scopus 로고
    • SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2β1
    • Young P.J., DiDonato C.J., Hu D., Kothary R., Androphy E.J., Lorson C.L. SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2β1. Hum. Mol. Genet. 11:2002;577-587.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 577-587
    • Young, P.J.1    Didonato, C.J.2    Hu, D.3    Kothary, R.4    Androphy, E.J.5    Lorson, C.L.6
  • 18
    • 0036544654 scopus 로고    scopus 로고
    • Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
    • Cartegni L., Krainer A.R. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat. Genet. 30:2002;377-384.
    • (2002) Nat. Genet. , vol.30 , pp. 377-384
    • Cartegni, L.1    Krainer, A.R.2
  • 19
    • 0041665176 scopus 로고    scopus 로고
    • A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
    • Kashima T., Manley J.L. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat. Genet. 34:2003;460-463.
    • (2003) Nat. Genet. , vol.34 , pp. 460-463
    • Kashima, T.1    Manley, J.L.2
  • 20
    • 0037189483 scopus 로고    scopus 로고
    • Identification of a cis-acting element for the regulation of SMN exon 7 splicing
    • Miyajima H., Miyaso H., Okumura M., Kurisu J., Imaizumi K. Identification of a cis-acting element for the regulation of SMN exon 7 splicing. J. Biol. Chem. 277:2002;23271-23277.
    • (2002) J. Biol. Chem. , vol.277 , pp. 23271-23277
    • Miyajima, H.1    Miyaso, H.2    Okumura, M.3    Kurisu, J.4    Imaizumi, K.5
  • 22
    • 0033591465 scopus 로고    scopus 로고
    • Expanded sequence dependence of thermodynamic parameters improves prediction of RNA secondary structure
    • Mathews D.H., Sabina J., Zuker M., Turner D.H. Expanded sequence dependence of thermodynamic parameters improves prediction of RNA secondary structure. J. Mol. Biol. 288:1999;911-940.
    • (1999) J. Mol. Biol. , vol.288 , pp. 911-940
    • Mathews, D.H.1    Sabina, J.2    Zuker, M.3    Turner, D.H.4
  • 23
    • 0030988942 scopus 로고    scopus 로고
    • Identification of a new class of exonic splicing enhancers by in vivo selection
    • Coulter L.R., Landree M.A., Cooper T.A. Identification of a new class of exonic splicing enhancers by in vivo selection. Mol. Cell. Biol. 17:1997;2143-2150.
    • (1997) Mol. Cell. Biol. , vol.17 , pp. 2143-2150
    • Coulter, L.R.1    Landree, M.A.2    Cooper, T.A.3
  • 25
    • 0033986689 scopus 로고    scopus 로고
    • Intron recognition comes of age
    • Moore M.J. Intron recognition comes of age. Nat. Struct. Biol. 7:2000;14-16.
    • (2000) Nat. Struct. Biol. , vol.7 , pp. 14-16
    • Moore, M.J.1
  • 26
    • 0035133535 scopus 로고    scopus 로고
    • An upstream AG determines whether a downstream AG is selected during catalytic step II of splicing
    • Chua K., Reed R. An upstream AG determines whether a downstream AG is selected during catalytic step II of splicing. Mol. Cell. Biol. 21:2001;1509-1514.
    • (2001) Mol. Cell. Biol. , vol.21 , pp. 1509-1514
    • Chua, K.1    Reed, R.2
  • 27
    • 0036809882 scopus 로고    scopus 로고
    • Nonsense-associated altered splicing: A frame-dependent response distinct from nonsense-mediated decay
    • Wang J., Chang Y.F., Hamilton J.I., Wilkinson M.F. Nonsense-associated altered splicing: a frame-dependent response distinct from nonsense-mediated decay. Mol. Cell. 10:2002;951-957.
    • (2002) Mol. Cell , vol.10 , pp. 951-957
    • Wang, J.1    Chang, Y.F.2    Hamilton, J.I.3    Wilkinson, M.F.4
  • 28
    • 0141834020 scopus 로고    scopus 로고
    • Evidence for a modifying pathway in SMA discordant families: Reduced SMN level decreases the amount of its interacting partners and Htra2-beta1
    • Helmken C., Hofmann Y., Schoenen F., Oprea G., Raschke H., Rudnik-Schoneborn S., Zerres K., Wirth B. Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1. Hum. Genet. 2003;11411-11421.
    • (2003) Hum. Genet. , pp. 11411-11421
    • Helmken, C.1    Hofmann, Y.2    Schoenen, F.3    Oprea, G.4    Raschke, H.5    Rudnik-Schoneborn, S.6    Zerres, K.7    Wirth, B.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.