Journal article
Cryptic splicing involving the splice site mutation in the canine model of Duchenne muscular dystrophy
Neuromuscular Disorders, Vol.11(3), pp.239-243
2001
Abstract
Golden retriever muscular dystrophy arises from a mutation in the acceptor splice site of intron 6 of the dystrophin gene. Skipping of exon 7 disrupts the mRNA reading frame and results in premature termination of translation. We are using this animal model to evaluate treatments for Duchenne muscular dystrophy, including gene repair induced by chimeric oligonucleotides. After injection of golden retriever muscular dystrophy (GRMD) muscle with a chimeric oligonucleotide to repair the lesion, immunostaining revealed a modest increase in the number of dystrophin-positive fibres at the injection sites. Dystrophin gene transcripts containing exon 7 were detected by reverse transcription-polymerase chain reaction, suggesting that low levels of splice site correction may have occurred. However, DNA sequencing of these apparently normal dystrophin gene transcripts revealed that the first five bases of exon 7 were missing. It will be important to be aware of this phenomenon with respect to further gene correction studies in the canine model.
Details
- Title
- Cryptic splicing involving the splice site mutation in the canine model of Duchenne muscular dystrophy
- Authors/Creators
- S. Fletcher (Author/Creator) - The University of Western AustraliaT. Ly (Author/Creator) - The University of Western AustraliaR.M. Duff (Author/Creator) - The University of Western AustraliaJ.Mc.C. Howell (Author/Creator) - Murdoch UniversityS.D. Wilton (Author/Creator) - The University of Western Australia
- Publication Details
- Neuromuscular Disorders, Vol.11(3), pp.239-243
- Publisher
- Elsevier BV
- Identifiers
- 991005544724207891
- Copyright
- © 2001 Elsevier Science B.V.
- Murdoch Affiliation
- School of Veterinary and Biomedical Sciences
- Language
- English
- Resource Type
- Journal article
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Source: InCites
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- Collaboration types
- Domestic collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.255 Musculoskeletal Disorders
- 1.255.628 Duchenne Muscular Dystrophy
- Web Of Science research areas
- Clinical Neurology
- Neurosciences
- ESI research areas
- Neuroscience & Behavior