Research Article
You have free access to this content
By-passing the nonsense mutation in the 4CV mouse model of muscular dystrophy by induced exon skipping
Article first published online: 12 NOV 2008
DOI: 10.1002/jgm.1265
Copyright © 2008 John Wiley & Sons, Ltd.
Additional Information
How to Cite
Mitrpant, C., Fletcher, S., Iversen, P. L. and Wilton, S. D. (2009), By-passing the nonsense mutation in the 4CV mouse model of muscular dystrophy by induced exon skipping. J. Gene Med., 11: 46–56. doi: 10.1002/jgm.1265
Publication History
- Issue published online: 29 DEC 2008
- Article first published online: 12 NOV 2008
- Manuscript Accepted: 25 SEP 2008
- Manuscript Revised: 2 AUG 2008
- Manuscript Received: 29 MAY 2008
Funded by
- National Institutes of Health. Grant Number: RO1 NS044146
- Muscular Dystrophy Association USA. Grant Number: MDA3718
- National Health and Medical Research Council of Australia. Grant Number: 303216
References
- 1, , , et al. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev 2002; 82: 291–329.
- 2. Muscular dystrophy into the new millennium. Neuromuscul Disord 2002; 12: 343–349.
- 3. The muscular dystrophies. Lancet 2002; 359: 687–695.
- 4, , , et al. Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD). Hum Mutat 2004; 23: 203–204.Direct Link:
- 5, , , et al. Duplications in the DMD gene. Hum Mutat 2006; 27: 938–945.Direct Link:
- 6, , , et al. Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. Hum Mutat 2007; 28: 183–195.Direct Link:
- 7, , , et al. Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene. Eur J Hum Genet 2008; 16: 53–61.
- 8, , , et al. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects. Hum Mutat 1999; 14: 359–368.Direct Link:
- 9, , , et al. Late onset and very mild course of Xp21 Becker type muscular dystrophy. Clin Neuropathol 2001; 20: 196–199.
- 10, , , et al. Becker muscular dystrophy with onset after 60 years. Neurology 1994; 44: 2388–2390.
- 11
- 12, , , et al. Nonsense mutations in a Becker muscular dystrophy and an intermediate patient. Hum Mutat 1996; 7: 72–75.Direct Link:
- 13, , , et al. Modification of splicing in the dystrophin gene in cultured Mdx muscle cells by antisense oligoribonucleotides. Hum Mol Genet 1998; 7: 1083–1090.
- 14, , , et al. Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides. Neuromuscul Disord 1999; 9: 330–338.
- 15, , , et al. Towards a therapeutic inhibition of dystrophin exon 23 splicing in mdx mouse muscle induced by antisense oligoribonucleotides (splicomers): target sequence optimisation using oligonucleotide arrays. J Gene Med 2004; 6: 1149–1158.Direct Link:
- 16, , . Poly (ethylene imine)-poly (ethylene glycol) copolymers facilitate efficient delivery of antisense oligonucleotides to nuclei of mature muscle cells of mdx mice. Hum Gene Ther 2005; 16: 1307–1317.
- 17, , , et al. Morpholino antisense oligonucleotide induced dystrophin exon 23 skipping in mdx mouse muscle. Hum Mol Genet 2003; 12: 1801–1811.
- 18, , , et al. Improved antisense oligonucleotide induced exon skipping in the mdx mouse model of muscular dystrophy. J Gene Med 2002; 4: 644–654.Direct Link:
- 19, , , et al. Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology. Nat Med 2006; 12: 175–177.
- 20, , , et al. Morpholino oligomer-mediated exon skipping averts the onset of dystrophic pathology in the mdx mouse. Mol Ther 2007; 15: 1587–1592.
- 21, , , et al. Dystrophin expression in the mdx mouse after localised and systemic administration of a morpholino antisense oligonucleotide. J Gene Med 2006; 8: 207–216.Direct Link:
- 22, , . Personalised genetic intervention for Duchenne muscular dystrophy: Antisense oligomers and exon skipping. Curr Mol Pharm 2008.
- 23, , . Gene therapy progress and prospects: Duchenne muscular dystrophy. Gene Ther 2006; 13: 1677–1685.
- 24, , . Viral-mediated gene therapy for the muscular dystrophies: successes, limitations and recent advances. Biochim Biophys Acta 2007; 1772: 243–262.
- 25, , , et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007; 447: 87–91.
- 26, , , et al. Recovery of induced mutations for X chromosome-linked muscular dystrophy in mice. Proc Natl Acad Sci USA 1989; 86: 1292–1296.
- 27, , , et al. Inhibition of flavivirus infections by antisense oligomers specifically suppressing viral translation and RNA replication. J Virol 2005; 79: 4599–4609.
- 28, , , et al. Inhibition of coxsackievirus B3 in cell cultures and in mice by peptide-conjugated morpholino oligomers targeting the internal ribosome entry site. J Virol 2006; 80: 11510–11519.
- 29, , , et al. Target selection for antisense oligonucleotide induced exon skipping in the dystrophin gene. J Gene Med 2003; 5: 518–527.Direct Link:
- 30, . Primary mouse myoblast purification, characterization, and transplantation for cell-mediated gene therapy. J Cell Biol 1994; 125: 1275–1287.
- 31, , , et al. Bandstab: a PCR-based alternative to cloning PCR products. Biotechniques 1997; 22: 642–645.
- 32, , , et al. ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 2003; 31: 3568–3571.
- 33, , , et al. An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. Hum Mol Genet 2006; 15: 2490–2508.
- 34, , , et al. Myogenic cell lines derived from transgenic mice carrying a thermolabile T antigen: a model system for the derivation of tissue-specific and mutation-specific cell lines. Dev Biol 1994; 162: 486–498.
- 35, , , et al. Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMD. Gene Ther 2006; 13: 1373–1381.
- 36, , , et al. Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse. Proc Natl Acad Sci USA 2001; 98: 42–47.
- 37, , , et al. Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse. Nat Med 2003; 9: 1009–1014.
- 38, , , et al. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet 1989; 45: 835–847.
- 39, , , et al. Antisense oligonucleotide-induced exon skipping across the human dystrophin gene transcript. Mol Ther 2007; 15: 1288–1296.
- 40, , , et al. Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle. Hum Gene Ther 2007; 18: 798–810.
- 41, , , et al. The influence of antisense oligonucleotide length on dystrophin exon skipping. Mol Ther 2007; 15: 157–166.
- 42, , , et al. Characterization of a potent and specific class of antisense oligonucleotide inhibitor of human protein kinase C-alpha expression. J Biol Chem 1999; 274: 1715–1722.
- 43, , , et al. Terminal antisense oligonucleotide modifications can enhance induced exon skipping. Neuromuscul Disord 2005; 15: 622–629.
- 44, , , et al. Induced exon skipping in human muscle explants. Neuromusc Disorders 2006; 16: 583–590.
- 45
- 46, , , et al. Antisense oligonucleotide induced exon skipping and the dystrophin gene transcript: cocktails and chemistries. BMC Mol Biol 2007; 8: 57.

1521-2254/asset/olbannerleft.gif?v=1&s=084a84e5f124a1478aaad4e63b1cd87a7fe8c8dd)
1521-2254/asset/cover.gif?v=1&s=b8066fc5488893da31d5fdadd64d17cc50782c5d)