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Titolo:
Cryptic splicing involving the splice site mutation in the canine model ofDuchenne muscular dystrophy
Autore:
Fletcher, S; Ly, T; Duff, RM; Howell, JM; Wilton, SD;
Indirizzi:
Univ Western Australia, Ctr Neuromuscular & Neurol Disorders, Perth, WA 6907, Australia Univ Western Australia Perth WA Australia 6907 Perth, WA 6907, Australia Murdoch Univ, Div Vet Biol & Biomed Sci, Murdoch, WA 6150, Australia Murdoch Univ Murdoch WA Australia 6150 d Sci, Murdoch, WA 6150, Australia
Titolo Testata:
NEUROMUSCULAR DISORDERS
fascicolo: 3, volume: 11, anno: 2001,
pagine: 239 - 243
SICI:
0960-8966(200104)11:3<239:CSITSS>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
IN-VIVO; POINT MUTATIONS; DNA FRAGMENTS; RECEPTOR GENE; OLIGONUCLEOTIDE; EXPRESSION; PROMOTER; MUSCLE; CELLS; DOGS;
Keywords:
dystrophin; Duchenne muscular dystrophy; gene correction; cryptic splicing;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
24
Recensione:
Indirizzi per estratti:
Indirizzo: Wilton, SD QE II Med Ctr, Ctr Neuromuscular & Neurol Disorders, 4th Floor A Block,Verdun St, Nedlands, WA 6009, Australia QE II Med Ctr 4th Floor A Block,Verdun St Nedlands WA Australia 6009
Citazione:
S. Fletcher et al., "Cryptic splicing involving the splice site mutation in the canine model ofDuchenne muscular dystrophy", NEUROMUSC D, 11(3), 2001, pp. 239-243

Abstract

Golden retriever muscular dystrophy arises from a mutation in the acceptorsplice 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 achimeric oligonucleotide to repair the lesion, immunostaining revealed a modest increase in the number of dystrophin-positive fibres at the injectionsites. 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. (C) 2001 Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/01/20 alle ore 19:35:50