Source:http://linkedlifedata.com/resource/pubmed/id/11297938
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
2001-4-12
|
| pubmed:abstractText |
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.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Apr
|
| pubmed:issn |
0960-8966
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
11
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
239-43
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| pubmed:dateRevised |
2006-11-15
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| pubmed:meshHeading |
pubmed-meshheading:11297938-Alternative Splicing,
pubmed-meshheading:11297938-Animals,
pubmed-meshheading:11297938-Chimera,
pubmed-meshheading:11297938-Disease Models, Animal,
pubmed-meshheading:11297938-Dogs,
pubmed-meshheading:11297938-Dystrophin,
pubmed-meshheading:11297938-Exons,
pubmed-meshheading:11297938-Female,
pubmed-meshheading:11297938-Frameshift Mutation,
pubmed-meshheading:11297938-Immunohistochemistry,
pubmed-meshheading:11297938-Male,
pubmed-meshheading:11297938-Muscle, Skeletal,
pubmed-meshheading:11297938-Muscular Dystrophy, Duchenne,
pubmed-meshheading:11297938-Mutagenesis, Site-Directed,
pubmed-meshheading:11297938-Oligonucleotides,
pubmed-meshheading:11297938-RNA, Messenger,
pubmed-meshheading:11297938-RNA Splice Sites,
pubmed-meshheading:11297938-Reading Frames,
pubmed-meshheading:11297938-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:11297938-Transcription, Genetic
|
| pubmed:year |
2001
|
| pubmed:articleTitle |
Cryptic splicing involving the splice site mutation in the canine model of Duchenne muscular dystrophy.
|
| pubmed:affiliation |
Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Nedlands, WA 6907, Perth, Australia.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|