메뉴 건너뛰기




Volumn 7, Issue 11, 2014, Pages 1297-1306

Development of a Drosophila melanogaster spliceosensor system for in vivo high-throughput screening in myotonic dystrophy type 1

Author keywords

In vivo screening; Luciferase; Minigene; Myotonic dystrophy; Splicing

Indexed keywords

LUCIFERASE; MESSENGER RNA PRECURSOR; MUSCLEBLIND LIKE PROTEIN 1; MUSCLEBLIND LIKE PROTEIN 3; RNA; RNA BINDING PROTEIN; UNCLASSIFIED DRUG;

EID: 84919968188     PISSN: 17548403     EISSN: 17548411     Source Type: Journal    
DOI: 10.1242/dmm.016592     Document Type: Article
Times cited : (12)

References (50)
  • 1
    • 84872534036 scopus 로고    scopus 로고
    • A high-throughput assay to identify small-molecule modulators of alternative pre-mRNA splicing
    • Arslan, A. D., He, X., Wang, M., Rumschlag-Booms, E., Rong, L. and Beck, W. T. (2013). A high-throughput assay to identify small-molecule modulators of alternative pre-mRNA splicing. J. Biomol. Screen. 18, 180-190.
    • (2013) J. Biomol. Screen. , vol.18 , pp. 180-190
    • Arslan, A.D.1    He, X.2    Wang, M.3    Rumschlag-Booms, E.4    Rong, L.5    Beck, W.T.6
  • 2
    • 59149103593 scopus 로고    scopus 로고
    • Towards a Drosophila model of Hutchinson-Gilford progeria syndrome
    • Beard, G. S., Bridger, J. M., Kill, I. R. and Tree, D. R. (2008). Towards a Drosophila model of Hutchinson-Gilford progeria syndrome. Biochem. Soc. Trans. 36, 1389-1392.
    • (2008) Biochem. Soc. Trans. , vol.36 , pp. 1389-1392
    • Beard, G.S.1    Bridger, J.M.2    Kill, I.R.3    Tree, D.R.4
  • 3
    • 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., Pérez-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    Pérez-Alonso, M.5    Mlodzik, M.6
  • 4
    • 0027160708 scopus 로고
    • Targeted gene expression as a means of altering cell fates and generating dominant phenotypes
    • Brand, A. H. and Perrimon, N. (1993). Targeted gene expression as a means of altering cell fates and generating dominant phenotypes. Development 118, 401-415.
    • (1993) Development , vol.118 , pp. 401-415
    • Brand, A.H.1    Perrimon, N.2
  • 5
    • 79955041258 scopus 로고    scopus 로고
    • Networking in a global world: Establishing functional connections between neural splicing regulators and their target transcripts
    • Calarco, J. A., Zhen, M. and Blencowe, B. J. (2011). Networking in a global world: establishing functional connections between neural splicing regulators and their target transcripts. RNA 17, 775-791.
    • (2011) RNA , vol.17 , pp. 775-791
    • Calarco, J.A.1    Zhen, M.2    Blencowe, B.J.3
  • 6
    • 84871602513 scopus 로고    scopus 로고
    • Rational design of bioactive, modularly assembled aminoglycosides targeting the RNA that causes myotonic dystrophy type 1
    • Childs-Disney, J. L., Parkesh, R., Nakamori, M., Thornton, C. A. and Disney, M. D. (2012). Rational design of bioactive, modularly assembled aminoglycosides targeting the RNA that causes myotonic dystrophy type 1. ACS Chem. Biol. 7, 1984-1993.
    • (2012) ACS Chem. Biol. , vol.7 , pp. 1984-1993
    • Childs-Disney, J.L.1    Parkesh, R.2    Nakamori, M.3    Thornton, C.A.4    Disney, M.D.5
  • 8
    • 76649102764 scopus 로고    scopus 로고
    • The alternative splicing repressors hnRNP A1/A2 and PTB influence pyruvate kinase isoform expression and cell metabolism
    • Clower, C. V., Chatterjee, D., Wang, Z., Cantley, L. C., Vander Heiden, M. G. and Krainer, A. R. (2010). The alternative splicing repressors hnRNP A1/A2 and PTB influence pyruvate kinase isoform expression and cell metabolism. Proc. Natl. Acad. Sci. USA 107, 1894-1899.
    • (2010) Proc. Natl. Acad. Sci. USA , vol.107 , pp. 1894-1899
    • Clower, C.V.1    Chatterjee, D.2    Wang, Z.3    Cantley, L.C.4    Vander Heiden, M.G.5    Krainer, A.R.6
  • 10
    • 84888363022 scopus 로고    scopus 로고
    • Mechanisms of skeletal muscle aging: Insights from Drosophila and mammalian models
    • Demontis, F., Piccirillo, R., Goldberg, A. L. and Perrimon, N. (2013). Mechanisms of skeletal muscle aging: insights from Drosophila and mammalian models. Dis. Model. Mech. 6, 1339-1352.
    • (2013) Dis. Model. Mech. , vol.6 , pp. 1339-1352
    • Demontis, F.1    Piccirillo, R.2    Goldberg, A.L.3    Perrimon, N.4
  • 13
    • 79961062490 scopus 로고    scopus 로고
    • In vivo discovery of a peptide that prevents CUG-RNA hairpin formation and reverses RNA toxicity in myotonic dystrophy models
    • García-López, A., Llamusí, B., Orzáez, M., Pérez-Payá, E. and Artero, R. D. (2011). In vivo discovery of a peptide that prevents CUG-RNA hairpin formation and reverses RNA toxicity in myotonic dystrophy models. Proc. Natl. Acad. Sci. USA 108, 11866-11871.
    • (2011) Proc. Natl. Acad. Sci. USA , vol.108 , pp. 11866-11871
    • García-López, A.1    Llamusí, B.2    Orzáez, M.3    Pérez-Payá, E.4    Artero, R.D.5
  • 14
    • 77951672406 scopus 로고    scopus 로고
    • High-throughput screening and small animal models, where are we?
    • Giacomotto, J. and Ségalat, L. (2010). High-throughput screening and small animal models, where are we? Br. J. Pharmacol. 160, 204-216.
    • (2010) Br. J. Pharmacol. , vol.160 , pp. 204-216
    • Giacomotto, J.1    Ségalat, L.2
  • 15
    • 79954597554 scopus 로고    scopus 로고
    • Identification of MBNL1 and MBNL3 domains required for splicing activation and repression
    • Grammatikakis, I., Goo, Y. H., Echeverria, G. V. and Cooper, T. A. (2011). Identification of MBNL1 and MBNL3 domains required for splicing activation and repression. Nucleic Acids Res. 39, 2769-2780.
    • (2011) Nucleic Acids Res. , vol.39 , pp. 2769-2780
    • Grammatikakis, I.1    Goo, Y.H.2    Echeverria, G.V.3    Cooper, T.A.4
  • 17
    • 84859066927 scopus 로고    scopus 로고
    • Drosophila muscleblind codes for proteins with one and two tandem zinc finger motifs
    • Irion, U. (2012). Drosophila muscleblind codes for proteins with one and two tandem zinc finger motifs. PLoS ONE 7, e34248.
    • (2012) PLoS ONE , vol.7
    • Irion, U.1
  • 18
    • 84894303874 scopus 로고    scopus 로고
    • High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines
    • Ketley, A., Chen, C. Z., Li, X., Arya, S., Robinson, T. E., Granados-Riveron, J., Udosen, I., Morris, G. E., Holt, I., Furling, D. et al. (2014). High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines. Hum. Mol. Genet. 23, 1551-1562.
    • (2014) Hum. Mol. Genet. , vol.23 , pp. 1551-1562
    • Ketley, A.1    Chen, C.Z.2    Li, X.3    Arya, S.4    Robinson, T.E.5    Granados-Riveron, J.6    Udosen, I.7    Morris, G.E.8    Holt, I.9    Furling, D.10
  • 20
    • 77949899075 scopus 로고    scopus 로고
    • Flightless flies: Drosophila models of neuromuscular disease
    • Lloyd, T. E. and Taylor, J. P. (2010). Flightless flies: Drosophila models of neuromuscular disease. Ann. N. Y. Acad. Sci. 1184, e1-e20.
    • (2010) Ann. N. Y. Acad. Sci. , vol.1184 , pp. e1-e20
    • Lloyd, T.E.1    Taylor, J.P.2
  • 21
    • 33750559154 scopus 로고    scopus 로고
    • Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts
    • Machuca-Tzili, L., Thorpe, H., Robinson, T. E., Sewry, C. and Brook, J. D. (2006). Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts. Hum. Genet. 120, 487-499.
    • (2006) Hum. Genet. , vol.120 , pp. 487-499
    • Machuca-Tzili, L.1    Thorpe, H.2    Robinson, T.E.3    Sewry, C.4    Brook, J.D.5
  • 22
    • 78149433910 scopus 로고    scopus 로고
    • Chronic hypoxia impairs muscle function in the Drosophila model of Duchenne's muscular dystrophy (DMD)
    • Mosqueira, M., Willmann, G., Ruohola-Baker, H. and Khurana, T. S. (2010). Chronic hypoxia impairs muscle function in the Drosophila model of Duchenne's muscular dystrophy (DMD). PLoS ONE 5, e13450.
    • (2010) PLoS ONE , vol.5
    • Mosqueira, M.1    Willmann, G.2    Ruohola-Baker, H.3    Khurana, T.S.4
  • 23
    • 0026657738 scopus 로고
    • Splicing signals in Drosophila: Intron size, information content, and consensus sequences
    • Mount, S. M., Burks, C., Hertz, G., Stormo, G. D., White, O. and Fields, C. (1992). Splicing signals in Drosophila: intron size, information content, and consensus sequences. Nucleic Acids Res. 20, 4255-4262.
    • (1992) Nucleic Acids Res. , vol.20 , pp. 4255-4262
    • Mount, S.M.1    Burks, C.2    Hertz, G.3    Stormo, G.D.4    White, O.5    Fields, C.6
  • 24
    • 0037833572 scopus 로고    scopus 로고
    • Evaluation of the no observed adverse effect level of solvent dimethyl sulfoxide in Drosophila melanogaster
    • Nazir, A., Mukhopadhyay, I., Saxena, D. K. and Chowdhuri, D. K. (2003). Evaluation of the no observed adverse effect level of solvent dimethyl sulfoxide in Drosophila melanogaster. Toxicol. Mech. Methods 13, 147-152.
    • (2003) Toxicol. Mech. Methods , vol.13 , pp. 147-152
    • Nazir, A.1    Mukhopadhyay, I.2    Saxena, D.K.3    Chowdhuri, D.K.4
  • 26
    • 84881360242 scopus 로고    scopus 로고
    • Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice
    • Oana, K., Oma, Y., Suo, S., Takahashi, M. P., Nishino, I., Takeda, S. and Ishiura, S. (2013). Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice. Sci. Rep. 3, 2142.
    • (2013) Sci. Rep. , vol.3 , pp. 2142
    • Oana, K.1    Oma, Y.2    Suo, S.3    Takahashi, M.P.4    Nishino, I.5    Takeda, S.6    Ishiura, S.7
  • 27
    • 79955749505 scopus 로고    scopus 로고
    • Human disease models in Drosophila melanogaster and the role of the fly in therapeutic drug discovery
    • Pandey, U. B. and Nichols, C. D. (2011). Human disease models in Drosophila melanogaster and the role of the fly in therapeutic drug discovery. Pharmacol. Rev. 63, 411-436.
    • (2011) Pharmacol. Rev. , vol.63 , pp. 411-436
    • Pandey, U.B.1    Nichols, C.D.2
  • 28
    • 84863268614 scopus 로고    scopus 로고
    • Design of a bioactive small molecule that targets the myotonic dystrophy type 1 RNA via an RNA motif-ligand database and chemical similarity searching
    • Parkesh, R., Childs-Disney, J. L., Nakamori, M., Kumar, A., Wang, E., Wang, T., Hoskins, J., Tran, T., Housman, D., Thornton, C. A. et al. (2012). Design of a bioactive small molecule that targets the myotonic dystrophy type 1 RNA via an RNA motif-ligand database and chemical similarity searching. J. Am. Chem. Soc. 134, 4731-4742.
    • (2012) J. Am. Chem. Soc. , vol.134 , pp. 4731-4742
    • Parkesh, R.1    Childs-Disney, J.L.2    Nakamori, M.3    Kumar, A.4    Wang, E.5    Wang, T.6    Hoskins, J.7    Tran, T.8    Housman, D.9    Thornton, C.A.10
  • 29
    • 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
  • 30
    • 84892679130 scopus 로고    scopus 로고
    • Mechanisms of muscle growth and atrophy in mammals and Drosophila
    • Piccirillo, R., Demontis, F., Perrimon, N. and Goldberg, A. L. (2014). Mechanisms of muscle growth and atrophy in mammals and Drosophila. Dev. Dyn. 243, 201-215.
    • (2014) Dev. Dyn. , vol.243 , pp. 201-215
    • Piccirillo, R.1    Demontis, F.2    Perrimon, N.3    Goldberg, A.L.4
  • 31
    • 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
  • 32
    • 84879772009 scopus 로고    scopus 로고
    • Alternative splicing of human insulin receptor gene (INSR) in type I and type II skeletal muscle fibers of patients with myotonic dystrophy type 1 and type 2
    • Santoro, M., Masciullo, M., Bonvissuto, D., Bianchi, M. L., Michetti, F. and Silvestri, G. (2013). Alternative splicing of human insulin receptor gene (INSR) in type I and type II skeletal muscle fibers of patients with myotonic dystrophy type 1 and type 2. Mol. Cell. Biochem. 380, 259-265.
    • (2013) Mol. Cell. Biochem. , vol.380 , pp. 259-265
    • Santoro, M.1    Masciullo, M.2    Bonvissuto, D.3    Bianchi, M.L.4    Michetti, F.5    Silvestri, G.6
  • 33
    • 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
  • 34
    • 84864390703 scopus 로고    scopus 로고
    • Pre-mRNA splicing in disease and therapeutics
    • Singh, R. K. and Cooper, T. A. (2012). Pre-mRNA splicing in disease and therapeutics. Trends Mol. Med. 18, 472-482.
    • (2012) Trends Mol. Med. , vol.18 , pp. 472-482
    • Singh, R.K.1    Cooper, T.A.2
  • 35
    • 77956205314 scopus 로고    scopus 로고
    • Splicing reporter mice revealed the evolutionally conserved switching mechanism of tissue-specific alternative exon selection
    • Takeuchi, A., Hosokawa, M., Nojima, T. and Hagiwara, M. (2010). Splicing reporter mice revealed the evolutionally conserved switching mechanism of tissue-specific alternative exon selection. PLoS ONE 5, e10946.
    • (2010) PLoS ONE , vol.5
    • Takeuchi, A.1    Hosokawa, M.2    Nojima, T.3    Hagiwara, M.4
  • 36
    • 84869491358 scopus 로고    scopus 로고
    • Behavioral and electrophysiological outcomes of tissue-specific Smn knockdown in Drosophila melanogaster
    • Timmerman, C. and Sanyal, S. (2012). Behavioral and electrophysiological outcomes of tissue-specific Smn knockdown in Drosophila melanogaster. Brain Res. 1489, 66-80.
    • (2012) Brain Res. , vol.1489 , pp. 66-80
    • Timmerman, C.1    Sanyal, S.2
  • 37
    • 77957680615 scopus 로고    scopus 로고
    • Diversification of muscle types: Recent insights from Drosophila
    • Tixier, V., Bataillé, L. and Jagla, K. (2010). Diversification of muscle types: recent insights from Drosophila. Exp. Cell Res. 316, 3019-3027.
    • (2010) Exp. Cell Res. , vol.316 , pp. 3019-3027
    • Tixier, V.1    Bataillé, L.2    Jagla, K.3
  • 38
    • 84866436425 scopus 로고    scopus 로고
    • The myotonic dystrophies: Molecular, clinical, and therapeutic challenges
    • Udd, B. and Krahe, R. (2012). The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol. 11, 891-905.
    • (2012) Lancet Neurol. , vol.11 , pp. 891-905
    • Udd, B.1    Krahe, R.2
  • 39
    • 79956101359 scopus 로고    scopus 로고
    • Myotonic dystrophy type 2 (DM2) and related disorders report of the 180th ENMC workshop including guidelines on diagnostics and management 3-5
    • December 2010, Naarden, The Netherlands
    • Udd, B., Meola, G., Krahe, R., Wansink, D. G., Bassez, G., Kress, W., Schoser, B. and Moxley, R. (2011). Myotonic dystrophy type 2 (DM2) and related disorders report of the 180th ENMC workshop including guidelines on diagnostics and management 3-5 December 2010, Naarden, The Netherlands. Neuromuscul. Disord. 21, 443-450.
    • (2011) Neuromuscul. Disord. , vol.21 , pp. 443-450
    • Udd, B.1    Meola, G.2    Krahe, R.3    Wansink, D.G.4    Bassez, G.5    Kress, W.6    Schoser, B.7    Moxley, R.8
  • 40
    • 84855274276 scopus 로고    scopus 로고
    • Regulated functional alternative splicing in Drosophila
    • Venables, J. P., Tazi, J. and Juge, F. (2012). Regulated functional alternative splicing in Drosophila. Nucleic Acids Res. 40, 1-10.
    • (2012) Nucleic Acids Res. , vol.40 , pp. 1-10
    • Venables, J.P.1    Tazi, J.2    Juge, F.3
  • 42
    • 42449098125 scopus 로고    scopus 로고
    • Splicing regulation: From a parts list of regulatory elements to an integrated splicing code
    • Wang, Z. and Burge, C. B. (2008). Splicing regulation: from a parts list of regulatory elements to an integrated splicing code. RNA 14, 802-813.
    • (2008) RNA , vol.14 , pp. 802-813
    • Wang, Z.1    Burge, C.B.2
  • 44
    • 67650828361 scopus 로고    scopus 로고
    • Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA
    • Wheeler, T. M., Sobczak, K., Lueck, J. D., Osborne, R. J., Lin, X., Dirksen, R. T. and Thornton, C. A. (2009). Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. Science 325, 336-339.
    • (2009) Science , vol.325 , pp. 336-339
    • Wheeler, T.M.1    Sobczak, K.2    Lueck, J.D.3    Osborne, R.J.4    Lin, X.5    Dirksen, R.T.6    Thornton, C.A.7
  • 46
    • 84877342215 scopus 로고    scopus 로고
    • Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration
    • Xu, Z., Poidevin, M., Li, X., Li, Y., Shu, L., Nelson, D. L., Li, H., Hales, C. M., Gearing, M., Wingo, T. S. et al. (2013). Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc. Natl. Acad. Sci. USA 110, 7778-7783.
    • (2013) Proc. Natl. Acad. Sci. USA , vol.110 , pp. 7778-7783
    • Xu, Z.1    Poidevin, M.2    Li, X.3    Li, Y.4    Shu, L.5    Nelson, D.L.6    Li, H.7    Hales, C.M.8    Gearing, M.9    Wingo, T.S.10
  • 47
    • 77949408107 scopus 로고    scopus 로고
    • Rapid-response splicing reporter screens identify differential regulators of constitutive and alternative splicing
    • Younis, I., Berg, M., Kaida, D., Dittmar, K., Wang, C. and Dreyfuss, G. (2010). Rapid-response splicing reporter screens identify differential regulators of constitutive and alternative splicing. Mol. Cell. Biol. 30, 1718-1728.
    • (2010) Mol. Cell. Biol. , vol.30 , pp. 1718-1728
    • Younis, I.1    Berg, M.2    Kaida, D.3    Dittmar, K.4    Wang, C.5    Dreyfuss, G.6
  • 49
    • 0033003760 scopus 로고    scopus 로고
    • A simple statistical parameter for use in evaluation and validation of high throughput screening
    • Zhang, J. H., Chung, T. D. Y. and Oldenburg, K. R. (1999). A simple statistical parameter for use in evaluation and validation of high throughput screening. J. Biomol. Screen. 4, 67-73.
    • (1999) J. Biomol. Screen. , vol.4 , pp. 67-73
    • Zhang, J.H.1    Chung, T.D.Y.2    Oldenburg, K.R.3
  • 50
    • 84878678381 scopus 로고    scopus 로고
    • A broadly applicable high-throughput screening strategy identifies new regulators of Dlg4 (Psd-95) alternative splicing
    • Zheng, S., Damoiseaux, R., Chen, L. and Black, D. L. (2013). A broadly applicable high-throughput screening strategy identifies new regulators of Dlg4 (Psd-95) alternative splicing. Genome Res. 23, 998-1007.
    • (2013) Genome Res. , vol.23 , pp. 998-1007
    • Zheng, S.1    Damoiseaux, R.2    Chen, L.3    Black, D.L.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.