메뉴 건너뛰기




Volumn 423, Issue 3, 2012, Pages 531-535

Validation of trans-acting elements that promote exon 7 skipping of SMN2 in SMN2-GFP stable cell line

Author keywords

SMN1; SMN2; Spinal muscular atrophy; Splicing; Stable cell line; Trans acting elements

Indexed keywords

GREEN FLUORESCENT PROTEIN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A1; MESSENGER RNA PRECURSOR; SHORT HAIRPIN RNA; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; TRANS ACTING FACTOR; UNCLASSIFIED DRUG;

EID: 84863327340     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2012.05.161     Document Type: Article
Times cited : (9)

References (40)
  • 1
    • 0019157979 scopus 로고
    • Classification of spinal muscular atrophies
    • Classification of spinal muscular atrophies. Med. J. Aust. 1980, 2(3):116.
    • (1980) Med. J. Aust. , vol.2 , Issue.3 , pp. 116
  • 2
    • 35548940665 scopus 로고    scopus 로고
    • Neuronal regulation of alternative pre-mRNA splicing
    • Li Q., Lee J.A., Black D.L. Neuronal regulation of alternative pre-mRNA splicing. Nat. Rev. Neurosci. 2007, 8(11):819-831.
    • (2007) Nat. Rev. Neurosci. , vol.8 , Issue.11 , pp. 819-831
    • Li, Q.1    Lee, J.A.2    Black, D.L.3
  • 3
    • 0031578699 scopus 로고    scopus 로고
    • Identification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuron
    • Bergin A., Kim G., Price D.L., et al. Identification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuron. Gene 1997, 204(1-2):47-53.
    • (1997) Gene , vol.204 , Issue.1-2 , pp. 47-53
    • Bergin, A.1    Kim, G.2    Price, D.L.3
  • 4
    • 0035969806 scopus 로고    scopus 로고
    • From gene to disease; 'survival' motor neuron protein and hereditary proximal spinal muscle atrophy
    • Cobben J.M., de Visser M., Scheffer H. From gene to disease; 'survival' motor neuron protein and hereditary proximal spinal muscle atrophy. Ned. Tijdschr Geneeskd 2001, 145(52):2525-2527.
    • (2001) Ned. Tijdschr Geneeskd , vol.145 , Issue.52 , pp. 2525-2527
    • Cobben, J.M.1    de Visser, M.2    Scheffer, H.3
  • 5
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • Lefebvre S., Burglen L., Reboullet S., et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995, 80(1):155-165.
    • (1995) Cell , vol.80 , Issue.1 , pp. 155-165
    • Lefebvre, S.1    Burglen, L.2    Reboullet, S.3
  • 6
    • 0033571601 scopus 로고    scopus 로고
    • The spinal muscular atrophy disease gene product, SMN: a link between snRNP biogenesis and the Cajal (coiled) body
    • Carvalho T., Almeida F., Calapez A., et al. The spinal muscular atrophy disease gene product, SMN: a link between snRNP biogenesis and the Cajal (coiled) body. J. Cell. Biol. 1999, 147(4):715-728.
    • (1999) J. Cell. Biol. , vol.147 , Issue.4 , pp. 715-728
    • Carvalho, T.1    Almeida, F.2    Calapez, A.3
  • 7
    • 0030985898 scopus 로고    scopus 로고
    • Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number
    • McAndrew P.E., Parsons D.W., Simard L.R., et al. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am. J. Hum. Genet. 1997, 60(6):1411-1422.
    • (1997) Am. J. Hum. Genet. , vol.60 , Issue.6 , pp. 1411-1422
    • McAndrew, P.E.1    Parsons, D.W.2    Simard, L.R.3
  • 8
    • 0032799998 scopus 로고    scopus 로고
    • A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
    • Monani U.R., Lorson C.L., Parsons D.W., 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(7):1177-1783.
    • (1999) Hum. Mol. Genet. , vol.8 , Issue.7 , pp. 1177-1783
    • Monani, U.R.1    Lorson, C.L.2    Parsons, D.W.3
  • 9
    • 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., et al. 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(11):6307-6311.
    • (1999) Proc. Natl. Acad. Sci. U. S. A. , vol.96 , Issue.11 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3
  • 10
    • 29244490598 scopus 로고    scopus 로고
    • Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2
    • Cartegni L., Hastings M.L., Calarco J.A., et al. Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am. J. Hum. Genet. 2006, 78(1):63-77.
    • (2006) Am. J. Hum. Genet. , vol.78 , Issue.1 , pp. 63-77
    • Cartegni, L.1    Hastings, M.L.2    Calarco, J.A.3
  • 11
    • 0029147787 scopus 로고
    • Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients
    • Gennarelli M., Lucarelli M., Capon F., et al. Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem. Biophys. Res. Commun. 1995, 213(1):342-348.
    • (1995) Biochem. Biophys. Res. Commun. , vol.213 , Issue.1 , pp. 342-348
    • Gennarelli, M.1    Lucarelli, M.2    Capon, F.3
  • 12
    • 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. 2003, 34(4):460-463.
    • (2003) Nat. Genet. , vol.34 , Issue.4 , pp. 460-463
    • Kashima, T.1    Manley, J.L.2
  • 13
    • 25644452850 scopus 로고    scopus 로고
    • RNA world and its evolution
    • Sinrin A.S. RNA world and its evolution. Mol. Biol. (Mosk) 2005, 39(4):550-556.
    • (2005) Mol. Biol. (Mosk) , vol.39 , Issue.4 , pp. 550-556
    • Sinrin, A.S.1
  • 14
    • 79951715071 scopus 로고    scopus 로고
    • Regulation of alternative splicing by the core spliceosomal machinery
    • Saltzman A.L., Pan Q., Blencowe B.J. Regulation of alternative splicing by the core spliceosomal machinery. Genes Dev. 2011, 25(4):373-384.
    • (2011) Genes Dev. , vol.25 , Issue.4 , pp. 373-384
    • Saltzman, A.L.1    Pan, Q.2    Blencowe, B.J.3
  • 15
    • 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 2002, 418(6894):236-243.
    • (2002) Nature , vol.418 , Issue.6894 , pp. 236-243
    • Maniatis, T.1    Tasic, B.2
  • 16
    • 2042437650 scopus 로고    scopus 로고
    • Initial sequencing and analysis of the human genome
    • Lander E.S., Linton L.M., Birren B., et al. Initial sequencing and analysis of the human genome. Nature 2001, 409(6822):860-921.
    • (2001) Nature , vol.409 , Issue.6822 , pp. 860-921
    • Lander, E.S.1    Linton, L.M.2    Birren, B.3
  • 17
    • 0036337915 scopus 로고    scopus 로고
    • A genomic view of alternative splicing
    • Modrek B., Lee C. A genomic view of alternative splicing. Nat. Genet. 2002, 30(1):13-19.
    • (2002) Nat. Genet. , vol.30 , Issue.1 , pp. 13-19
    • Modrek, B.1    Lee, C.2
  • 18
    • 0032435862 scopus 로고    scopus 로고
    • Alternative splicing of pre-mRNA: developmental consequences and mechanisms of regulation
    • Lopez A.J. Alternative splicing of pre-mRNA: developmental consequences and mechanisms of regulation. Annu. Rev. Genet. 1998, 32:279-305.
    • (1998) Annu. Rev. Genet. , vol.32 , pp. 279-305
    • Lopez, A.J.1
  • 19
    • 0034256020 scopus 로고    scopus 로고
    • Alternative pre-mRNA splicing: the logic of combinatorial control
    • Smith C.W., Valcarcel J. Alternative pre-mRNA splicing: the logic of combinatorial control. Trends Biochem. Sci. 2000, 25(8):381-388.
    • (2000) Trends Biochem. Sci. , vol.25 , Issue.8 , pp. 381-388
    • Smith, C.W.1    Valcarcel, J.2
  • 20
    • 84860268701 scopus 로고    scopus 로고
    • The RNA-binding landscapes of two SR proteins reveal unique functions and binding to diverse RNA classes
    • Anko M.L., Muller-McNicoll M., Brandl H., et al. The RNA-binding landscapes of two SR proteins reveal unique functions and binding to diverse RNA classes. Genome Biol. 2012, 13(3):R17.
    • (2012) Genome Biol. , vol.13 , Issue.3
    • Anko, M.L.1    Muller-McNicoll, M.2    Brandl, H.3
  • 21
    • 14644431487 scopus 로고    scopus 로고
    • Broad specificity of SR (serine/arginine) proteins in the regulation of alternative splicing of pre-messenger RNA
    • Bourgeois C.F., Lejeune F., Stevenin J. Broad specificity of SR (serine/arginine) proteins in the regulation of alternative splicing of pre-messenger RNA. Prog. Nucleic Acid Res. Mol. Biol. 2004, 78:37-88.
    • (2004) Prog. Nucleic Acid Res. Mol. Biol. , vol.78 , pp. 37-88
    • Bourgeois, C.F.1    Lejeune, F.2    Stevenin, J.3
  • 22
    • 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. 2003, 12(1):5-14.
    • (2003) Mol. Cell. , vol.12 , Issue.1 , pp. 5-14
    • Jurica, M.S.1    Moore, M.J.2
  • 23
    • 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 2000, 6(9):1197-1211.
    • (2000) RNA , vol.6 , Issue.9 , pp. 1197-1211
    • Graveley, B.R.1
  • 24
    • 84863255704 scopus 로고    scopus 로고
    • Evolution of SR protein and hnRNP splicing regulatory factors
    • Busch A., Hertel K.J. Evolution of SR protein and hnRNP splicing regulatory factors. Wiley Interdiscip. Rev. RNA 2012, 3(1):1-12.
    • (2012) Wiley Interdiscip. Rev. RNA , vol.3 , Issue.1 , pp. 1-12
    • Busch, A.1    Hertel, K.J.2
  • 25
    • 84856768815 scopus 로고    scopus 로고
    • Smooth muscle caldesmon modulates peristalsis in the wild type and non-innervated zebrafish intestine
    • Abrams J., Davuluri G., Seiler C., et al. Smooth muscle caldesmon modulates peristalsis in the wild type and non-innervated zebrafish intestine. Neurogastroenterol. Motil. 2012, 24(3):288-299.
    • (2012) Neurogastroenterol. Motil. , vol.24 , Issue.3 , pp. 288-299
    • Abrams, J.1    Davuluri, G.2    Seiler, C.3
  • 26
    • 77955110561 scopus 로고    scopus 로고
    • Heterogeneous nuclear ribonucleoproteins (hnRNPs) in cellular processes: focus on hnRNP E1's multifunctional regulatory roles
    • Chaudhury A., Chander P., Howe P.H. Heterogeneous nuclear ribonucleoproteins (hnRNPs) in cellular processes: focus on hnRNP E1's multifunctional regulatory roles. RNA 2010, 16(8):1449-1462.
    • (2010) RNA , vol.16 , Issue.8 , pp. 1449-1462
    • Chaudhury, A.1    Chander, P.2    Howe, P.H.3
  • 27
    • 0026543785 scopus 로고
    • Regulation of alternative pre-mRNA splicing by hnRNP A1 and splicing factor SF2
    • Mayeda A., Krainer A.R. Regulation of alternative pre-mRNA splicing by hnRNP A1 and splicing factor SF2. Cell 1992, 68(2):365-375.
    • (1992) Cell , vol.68 , Issue.2 , pp. 365-375
    • Mayeda, A.1    Krainer, A.R.2
  • 28
    • 77953230937 scopus 로고    scopus 로고
    • A genome-wide RNA interference screen reveals an essential CREB3L2-ATF5-MCL1 survival pathway in malignant glioma with therapeutic implications
    • Sheng Z., Li L., Zhu L.J., et al. A genome-wide RNA interference screen reveals an essential CREB3L2-ATF5-MCL1 survival pathway in malignant glioma with therapeutic implications. Nat. Med. 2010, 16(6):671-677.
    • (2010) Nat. Med. , vol.16 , Issue.6 , pp. 671-677
    • Sheng, Z.1    Li, L.2    Zhu, L.J.3
  • 29
    • 37249014601 scopus 로고    scopus 로고
    • Initiation of zebrafish haematopoiesis by the TATA-box-binding protein-related factor Trf3
    • Hart D.O., Raha T., Lawson N.D., et al. Initiation of zebrafish haematopoiesis by the TATA-box-binding protein-related factor Trf3. Nature 2007, 450(7172):1082-1085.
    • (2007) Nature , vol.450 , Issue.7172 , pp. 1082-1085
    • Hart, D.O.1    Raha, T.2    Lawson, N.D.3
  • 30
    • 35548953686 scopus 로고    scopus 로고
    • An elaborate pathway required for Ras-mediated epigenetic silencing
    • Gazin C., Wajapeyee N., Gobeil S., et al. An elaborate pathway required for Ras-mediated epigenetic silencing. Nature 2007, 449(7165):1073-1077.
    • (2007) Nature , vol.449 , Issue.7165 , pp. 1073-1077
    • Gazin, C.1    Wajapeyee, N.2    Gobeil, S.3
  • 31
    • 12144289681 scopus 로고    scopus 로고
    • A large-scale RNAi screen in human cells identifies new components of the p53 pathway
    • Berns K., Hijmans E.M., Mullenders J., et al. A large-scale RNAi screen in human cells identifies new components of the p53 pathway. Nature 2004, 428(6981):431-437.
    • (2004) Nature , vol.428 , Issue.6981 , pp. 431-437
    • Berns, K.1    Hijmans, E.M.2    Mullenders, J.3
  • 32
    • 30644463822 scopus 로고    scopus 로고
    • Design and cloning strategies for constructing shRNA expression vectors
    • McIntyre G.J., Fanning G.C. Design and cloning strategies for constructing shRNA expression vectors. BMC Biotechnol. 2006, 6:1.
    • (2006) BMC Biotechnol. , vol.6 , pp. 1
    • McIntyre, G.J.1    Fanning, G.C.2
  • 33
    • 0037089589 scopus 로고    scopus 로고
    • Short hairpin RNAs (shRNAs) induce sequence-specific silencing in mammalian cells
    • Paddison P.J., Caudy A.A., Bernstein E., et al. Short hairpin RNAs (shRNAs) induce sequence-specific silencing in mammalian cells. Genes Dev. 2002, 16(8):948-958.
    • (2002) Genes Dev. , vol.16 , Issue.8 , pp. 948-958
    • Paddison, P.J.1    Caudy, A.A.2    Bernstein, E.3
  • 34
    • 85047689522 scopus 로고    scopus 로고
    • Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy
    • Azzouz M., Le T., Ralph G.S., et al. Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy. J. Clin. Invest. 2004, 114(12):1726-1731.
    • (2004) J. Clin. Invest. , vol.114 , Issue.12 , pp. 1726-1731
    • Azzouz, M.1    Le, T.2    Ralph, G.S.3
  • 35
    • 36248987806 scopus 로고    scopus 로고
    • HnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing
    • Kashima T., Rao N., David C.J., et al. hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing. Hum. Mol. Genet. 2007, 16(24):3149-3159.
    • (2007) Hum. Mol. Genet. , vol.16 , Issue.24 , pp. 3149-3159
    • Kashima, T.1    Rao, N.2    David, C.J.3
  • 36
    • 0035158371 scopus 로고    scopus 로고
    • An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA
    • Zhang M.L., Lorson C.L., Androphy E.J., et al. An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA. Gene Ther. 2001, 8(20):1532-1538.
    • (2001) Gene Ther. , vol.8 , Issue.20 , pp. 1532-1538
    • Zhang, M.L.1    Lorson, C.L.2    Androphy, E.J.3
  • 37
    • 3042668954 scopus 로고    scopus 로고
    • Flow cytometry: an introduction
    • Givan A.L. Flow cytometry: an introduction. Methods Mol. Biol. 2004, 263:1-32.
    • (2004) Methods Mol. Biol. , vol.263 , pp. 1-32
    • Givan, A.L.1
  • 39
    • 0031604994 scopus 로고    scopus 로고
    • Flow cytometry: an overview
    • Villas B.H. Flow cytometry: an overview. Cell Vis. 1998, 5(1):56-61.
    • (1998) Cell Vis. , vol.5 , Issue.1 , pp. 56-61
    • Villas, B.H.1
  • 40
    • 0016829043 scopus 로고
    • A clinical and genetic study of chronic proximal spinal muscular atrophy
    • Bundey S., Lovelace R.E. A clinical and genetic study of chronic proximal spinal muscular atrophy. Brain 1975, 98(3):455-472.
    • (1975) Brain , vol.98 , Issue.3 , pp. 455-472
    • Bundey, S.1    Lovelace, R.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.