메뉴 건너뛰기




Volumn 10, Issue 3, 2015, Pages

High expression level of Tra2-β1 is responsible for increased SMN2 exon 7 inclusion in the testis of SMA mice

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROTEIN SF2; REGULATOR PROTEIN; SERINE ARGININE RICH PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 2; TRA2 BETA1 PROTEIN; UNCLASSIFIED DRUG; NUCLEAR PROTEIN; RNA BINDING PROTEIN; SERINE ARGININE RICH SPLICING FACTOR; SMN2 PROTEIN, MOUSE; TRA2B PROTEIN, MOUSE;

EID: 84924944006     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0120721     Document Type: Article
Times cited : (13)

References (39)
  • 1
    • 80051554264 scopus 로고    scopus 로고
    • Spinal muscular atrophy: A timely review
    • PMID: 21482919
    • Kolb SJ, Kissel JT. Spinal muscular atrophy: a timely review. Arch Neurol. 2011; 68: 979-984. doi: 10.1001/archneurol.2011.74 PMID: 21482919
    • (2011) Arch Neurol , vol.68 , pp. 979-984
    • Kolb, S.J.1    Kissel, J.T.2
  • 2
    • 84859816485 scopus 로고    scopus 로고
    • Childhood spinal muscular atrophy: Controversies and challenges
    • PMID: 22516079
    • Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol. 2012; 11: 443-452. doi: 10.1016/S1474-4422(12)70061-3 PMID: 22516079
    • (2012) Lancet Neurol , vol.11 , pp. 443-452
    • Mercuri, E.1    Bertini, E.2    Iannaccone, S.T.3
  • 3
    • 0037100098 scopus 로고    scopus 로고
    • Genetic risk assessment in carrier testing for spinal muscular atrophy
    • PMID: 12116201
    • Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB. Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet. 2002; 110: 301-307. PMID: 12116201
    • (2002) Am J Med Genet , vol.110 , pp. 301-307
    • Ogino, S.1    Leonard, D.G.2    Rennert, H.3    Ewens, W.J.4    Wilson, R.B.5
  • 4
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • PMID: 7813012
    • Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995; 80: 155-165. PMID: 7813012
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebvre, S.1    Burglen, L.2    Reboullet, S.3    Clermont, O.4    Burlet, P.5    Viollet, L.6
  • 6
    • 0343267780 scopus 로고    scopus 로고
    • Structure and organization of the human survival motor neurone (SMN) gene
    • PMID: 8838816
    • Burglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, et al. Structure and organization of the human survival motor neurone (SMN) gene. Genomics. 1996; 32: 479-482. PMID: 8838816
    • (1996) Genomics , vol.32 , pp. 479-482
    • Burglen, L.1    Lefebvre, S.2    Clermont, O.3    Burlet, P.4    Viollet, L.5    Cruaud, C.6
  • 7
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    • PMID: 10339583
    • Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A. 1999; 96: 6307-6311. PMID: 10339583
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3    Wirth, B.4
  • 8
    • 0032799998 scopus 로고    scopus 로고
    • A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
    • PMID: 10369862
    • Monani UR, Lorson CL, Parsons DW, Prior TW, Androphy EJ, Burghes AH, et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet. 1999; 8: 1177-1183. PMID: 10369862
    • (1999) Hum Mol Genet , vol.8 , pp. 1177-1183
    • Monani, U.R.1    Lorson, C.L.2    Parsons, D.W.3    Prior, T.W.4    Androphy, E.J.5    Burghes, A.H.6
  • 9
    • 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
    • PMID: 11925564
    • Cartegni L, Krainer AR. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet. 2002; 30: 377-384. PMID: 11925564
    • (2002) Nat Genet , vol.30 , pp. 377-384
    • Cartegni, L.1    Krainer, A.R.2
  • 10
    • 0041665176 scopus 로고    scopus 로고
    • A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
    • PMID: 12833158
    • Kashima T, Manley JL. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet. 2003; 34: 460-463. PMID: 12833158
    • (2003) Nat Genet , vol.34 , pp. 460-463
    • Kashima, T.1    Manley, J.L.2
  • 11
    • 0034662922 scopus 로고    scopus 로고
    • Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
    • PMID: 10931943
    • Hofmann Y, Lorson CL, Stamm S, Androphy EJ, Wirth B. Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Proc Natl Acad Sci U S A. 2000; 97: 9618-9623. PMID: 10931943
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 9618-9623
    • Hofmann, Y.1    Lorson, C.L.2    Stamm, S.3    Androphy, E.J.4    Wirth, B.5
  • 12
    • 0037101846 scopus 로고    scopus 로고
    • hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1
    • PMID: 12165565
    • Hofmann Y, Wirth B. hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1. Hum Mol Genet. 2002; 11: 2037-2049. PMID: 12165565
    • (2002) Hum Mol Genet , vol.11 , pp. 2037-2049
    • Hofmann, Y.1    Wirth, B.2
  • 13
    • 0036501065 scopus 로고    scopus 로고
    • SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1
    • PMID: 11875052
    • Young PJ, DiDonato CJ, Hu D, Kothary R, Androphy EJ, Lorson CL. SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1. Hum Mol Genet. 2002; 11: 577-587. PMID: 11875052
    • (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
  • 14
    • 78649520744 scopus 로고    scopus 로고
    • SMN and Gemins: 'We are family'... or are we?: Insights into the partnership between Gemins and the spinal muscular atrophy disease protein SMN
    • PMID: 20954180
    • Cauchi RJ. SMN and Gemins: 'we are family' . . . or are we?: insights into the partnership between Gemins and the spinal muscular atrophy disease protein SMN. Bioessays. 2010; 32: 1077-1089. doi: 10.1002/bies.201000088 PMID: 20954180
    • (2010) Bioessays , vol.32 , pp. 1077-1089
    • Cauchi, R.J.1
  • 15
    • 0030931727 scopus 로고    scopus 로고
    • The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins
    • PMID: 9323129
    • Liu Q, Fischer U, Wang F, Dreyfuss G. The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Cell. 1997; 90: 1013-1021. PMID: 9323129
    • (1997) Cell , vol.90 , pp. 1013-1021
    • Liu, Q.1    Fischer, U.2    Wang, F.3    Dreyfuss, G.4
  • 16
    • 0033552589 scopus 로고    scopus 로고
    • Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems
    • PMID: 10601333
    • Charroux B, Pellizzoni L, Perkinson RA, Shevchenko A, Mann M, Dreyfuss G. Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems. J Cell Biol. 1999; 147: 1181-1194. PMID: 10601333
    • (1999) J Cell Biol , vol.147 , pp. 1181-1194
    • Charroux, B.1    Pellizzoni, L.2    Perkinson, R.A.3    Shevchenko, A.4    Mann, M.5    Dreyfuss, G.6
  • 17
    • 0034688999 scopus 로고    scopus 로고
    • Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli
    • PMID: 10725331
    • Charroux B, Pellizzoni L, Perkinson RA, Yong J, Shevchenko A, Mann M, et al. Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli. J Cell Biol. 2000; 148: 1177-1186. PMID: 10725331
    • (2000) J Cell Biol , vol.148 , pp. 1177-1186
    • Charroux, B.1    Pellizzoni, L.2    Perkinson, R.A.3    Yong, J.4    Shevchenko, A.5    Mann, M.6
  • 18
    • 0037085390 scopus 로고    scopus 로고
    • Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins
    • PMID: 11714716
    • Gubitz AK, Mourelatos Z, Abel L, Rappsilber J, Mann M, Dreyfuss G. Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins. J Biol Chem. 2002; 277: 5631-5636. PMID: 11714716
    • (2002) J Biol Chem , vol.277 , pp. 5631-5636
    • Gubitz, A.K.1    Mourelatos, Z.2    Abel, L.3    Rappsilber, J.4    Mann, M.5    Dreyfuss, G.6
  • 19
    • 0036510395 scopus 로고    scopus 로고
    • Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component
    • PMID: 11748230
    • Pellizzoni L, Baccon J, Rappsilber J, Mann M, Dreyfuss G. Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component. J Biol Chem. 2002; 277: 7540-7545. PMID: 11748230
    • (2002) J Biol Chem , vol.277 , pp. 7540-7545
    • Pellizzoni, L.1    Baccon, J.2    Rappsilber, J.3    Mann, M.4    Dreyfuss, G.5
  • 20
    • 0037200002 scopus 로고    scopus 로고
    • Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex
    • PMID: 12065586
    • Baccon J, Pellizzoni L, Rappsilber J, Mann M, Dreyfuss G. Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex. J Biol Chem. 2002; 277: 31957-31962. PMID: 12065586
    • (2002) J Biol Chem , vol.277 , pp. 31957-31962
    • Baccon, J.1    Pellizzoni, L.2    Rappsilber, J.3    Mann, M.4    Dreyfuss, G.5
  • 21
    • 33646377172 scopus 로고    scopus 로고
    • Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly
    • PMID: 16434402
    • Carissimi C, Saieva L, Baccon J, Chiarella P, Maiolica A, Sawyer A, et al. Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly. J Biol Chem. 2006; 281: 8126-8134. PMID: 16434402
    • (2006) J Biol Chem , vol.281 , pp. 8126-8134
    • Carissimi, C.1    Saieva, L.2    Baccon, J.3    Chiarella, P.4    Maiolica, A.5    Sawyer, A.6
  • 22
    • 27544502473 scopus 로고    scopus 로고
    • Unrip, a factor implicated in cap-independent translation, associates with the cytosolic SMN complex and influences its intracellular localization
    • PMID: 16159890
    • Grimmler M, Otter S, Peter C, Muller F, Chari A, Fischer U. Unrip, a factor implicated in cap-independent translation, associates with the cytosolic SMN complex and influences its intracellular localization. Hum Mol Genet. 2005; 14: 3099-3111. PMID: 16159890
    • (2005) Hum Mol Genet , vol.14 , pp. 3099-3111
    • Grimmler, M.1    Otter, S.2    Peter, C.3    Muller, F.4    Chari, A.5    Fischer, U.6
  • 23
    • 66049124365 scopus 로고    scopus 로고
    • The role of RNP biogenesis in spinal muscular atrophy
    • PMID: 19286363
    • Chari A, Paknia E, Fischer U. The role of RNP biogenesis in spinal muscular atrophy. Curr Opin Cell Biol. 2009; 21: 387-393. doi: 10.1016/j.ceb.2009.02.004 PMID: 19286363
    • (2009) Curr Opin Cell Biol , vol.21 , pp. 387-393
    • Chari, A.1    Paknia, E.2    Fischer, U.3
  • 24
    • 84862139693 scopus 로고    scopus 로고
    • Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy
    • PMID: 22424789
    • Workman E, Kolb SJ, Battle DJ. Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy. Brain Res. 2012; 1462: 93-99. doi: 10.1016/j.brainres.2012.02.051 PMID: 22424789
    • (2012) Brain Res , vol.1462 , pp. 93-99
    • Workman, E.1    Kolb, S.J.2    Battle, D.J.3
  • 25
    • 34548152119 scopus 로고    scopus 로고
    • Molecular functions of the SMN complex
    • PMID: 17761654
    • Kolb SJ, Battle DJ, Dreyfuss G. Molecular functions of the SMN complex. J Child Neurol. 2007; 22: 990-994. PMID: 17761654
    • (2007) J Child Neurol , vol.22 , pp. 990-994
    • Kolb, S.J.1    Battle, D.J.2    Dreyfuss, G.3
  • 26
    • 84857733745 scopus 로고    scopus 로고
    • SMN in spinal muscular atrophy and snRNP biogenesis
    • PMID: 21957043
    • Coady TH, Lorson CL. SMN in spinal muscular atrophy and snRNP biogenesis. Wiley Interdiscip Rev RNA. 2011; 2: 546-564. doi: 10.1002/wrna.76 PMID: 21957043
    • (2011) Wiley Interdiscip Rev RNA , vol.2 , pp. 546-564
    • Coady, T.H.1    Lorson, C.L.2
  • 27
    • 0345169036 scopus 로고    scopus 로고
    • Splicing double: Insights from the second spliceosome
    • PMID: 14685174
    • Patel AA, Steitz JA. Splicing double: insights from the second spliceosome. Nat Rev Mol Cell Biol. 2003; 4: 960-970. PMID: 14685174
    • (2003) Nat Rev Mol Cell Biol , vol.4 , pp. 960-970
    • Patel, A.A.1    Steitz, J.A.2
  • 28
    • 33749264614 scopus 로고    scopus 로고
    • Spinal muscular atrophy: From gene to therapy
    • PMID: 17027862
    • Wirth B, Brichta L, Hahnen E. Spinal muscular atrophy: from gene to therapy. Semin Pediatr Neurol. 2006; 13: 121-131. PMID: 17027862
    • (2006) Semin Pediatr Neurol , vol.13 , pp. 121-131
    • Wirth, B.1    Brichta, L.2    Hahnen, E.3
  • 29
    • 0345599021 scopus 로고    scopus 로고
    • Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons
    • PMID: 14623865
    • Rossoll W, Jablonka S, Andreassi C, Kroning AK, Karle K, Monani UR, et al. Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons. J Cell Biol. 2003; 163: 801-812. PMID: 14623865
    • (2003) J Cell Biol , vol.163 , pp. 801-812
    • Rossoll, W.1    Jablonka, S.2    Andreassi, C.3    Kroning, A.K.4    Karle, K.5    Monani, U.R.6
  • 31
    • 0034639645 scopus 로고    scopus 로고
    • The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy
    • PMID: 10655541
    • Monani UR, Sendtner M, Coovert DD, Parsons DW, Andreassi C, Le TT, et al. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet. 2000; 9: 333-339. PMID: 10655541
    • (2000) Hum Mol Genet , vol.9 , pp. 333-339
    • Monani, U.R.1    Sendtner, M.2    Coovert, D.D.3    Parsons, D.W.4    Andreassi, C.5    Le, T.T.6
  • 32
    • 55849144692 scopus 로고    scopus 로고
    • The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene
    • PMID: 18794368
    • Chen HH, Chang JG, Lu RM, Peng TY, Tarn WY. The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene. Mol Cell Biol. 2008; 28: 6929-6938. doi: 10.1128/MCB.01332-08 PMID: 18794368
    • (2008) Mol Cell Biol , vol.28 , pp. 6929-6938
    • Chen, H.H.1    Chang, J.G.2    Lu, R.M.3    Peng, T.Y.4    Tarn, W.Y.5
  • 33
    • 0035158371 scopus 로고    scopus 로고
    • An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: Potential therapy of SMA
    • PMID: 11704813
    • Zhang ML, Lorson CL, Androphy EJ, Zhou J. An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA. Gene Ther. 2001; 8: 1532-1538. PMID: 11704813
    • (2001) Gene Ther , vol.8 , pp. 1532-1538
    • Zhang, M.L.1    Lorson, C.L.2    Androphy, E.J.3    Zhou, J.4
  • 34
    • 67651083390 scopus 로고    scopus 로고
    • Spinal muscular atrophy: Why do low levels of survival motor neuron protein make motor neurons sick?
    • PMID: 19584893
    • Burghes AH, Beattie CE. Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci. 2009; 10: 597-609. doi: 10.1038/nrn2670 PMID: 19584893
    • (2009) Nat Rev Neurosci , vol.10 , pp. 597-609
    • Burghes, A.H.1    Beattie, C.E.2
  • 35
    • 84884181118 scopus 로고    scopus 로고
    • hnRNP A1: The Swiss army knife of gene expression
    • PMID: 24065100
    • Jean-Philippe J, Paz S, Caputi M. hnRNP A1: the Swiss army knife of gene expression. Int J Mol Sci. 2013; 14: 18999-19024. doi: 10.3390/ijms140918999 PMID: 24065100
    • (2013) Int J Mol Sci , vol.14 , pp. 18999-19024
    • Jean-Philippe, J.1    Paz, S.2    Caputi, M.3
  • 36
    • 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
    • PMID: 14520560
    • Helmken C, Hofmann Y, Schoenen F, Oprea G, Raschke H, Rudnik-Schoneborn S, et al. 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; 114: 11-21. PMID: 14520560
    • (2003) Hum Genet , vol.114 , pp. 11-21
    • Helmken, C.1    Hofmann, Y.2    Schoenen, F.3    Oprea, G.4    Raschke, H.5    Rudnik-Schoneborn, S.6
  • 37
    • 0034353187 scopus 로고    scopus 로고
    • Exclusion of Htra2-beta1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy
    • PMID: 11153908
    • Helmken C, Wirth B. Exclusion of Htra2-beta1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy. Hum Genet. 2000; 107: 554-558. PMID: 11153908
    • (2000) Hum Genet , vol.107 , pp. 554-558
    • Helmken, C.1    Wirth, B.2
  • 38
    • 84884195895 scopus 로고    scopus 로고
    • Spinal muscular atrophy: An update on therapeutic progress
    • PMID: 23994186
    • Seo J, Howell MD, Singh NN, Singh RN. Spinal muscular atrophy: an update on therapeutic progress. Biochim Biophys Acta. 2013; 1832: 2180-2190. doi: 10.1016/j.bbadis.2013.08.005 PMID: 23994186
    • (2013) Biochim Biophys Acta , vol.1832 , pp. 2180-2190
    • Seo, J.1    Howell, M.D.2    Singh, N.N.3    Singh, R.N.4
  • 39
    • 33847358736 scopus 로고    scopus 로고
    • Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy
    • PMID: 17318264
    • Avila AM, Burnett BG, Taye AA, Gabanella F, Knight MA, Hartenstein P, et al. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest. 2007; 117: 659-671. PMID: 17318264
    • (2007) J Clin Invest , vol.117 , pp. 659-671
    • Avila, A.M.1    Burnett, B.G.2    Taye, A.A.3    Gabanella, F.4    Knight, M.A.5    Hartenstein, P.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.