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Alternative dystrophin gene transcripts in golden retriever muscular dystrophy

Schatzberg, S.J., Anderson, L.V.B., Wilton, S.D., Kornegay, J.N., Mann, C.J., Solomon, G.G. and Sharp, N.J.H. (1998) Alternative dystrophin gene transcripts in golden retriever muscular dystrophy. Muscle & Nerve, 21 (8). pp. 991-998.

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Golden retriever muscular dystrophy (GRMD), the canine model of Duchenne muscular dystrophy (DMD), is caused by a splice site mutation in the dystrophin gene. This mutation predicts a premature termination codon in exon 8 and a peptide that is 5% the size of normal dystrophin. Western blot analysis of skeletal muscle from GRMD dogs reveals a slightly truncated 390-kD protein that is approximately 91% the size of normal dystrophin. This 390-kD dystrophin suggests that GRMD dogs, like some DMD patients, employ a mechanism to overcome their predicted frameshift. Reverse-transcriptase polymerase chain reaction on GRMD muscle has revealed two in-frame dystrophin transcripts which lack either exons 3–9 or exons 5–12. Both transcripts could be translated into a dystrophin protein of approximately 390 kD. An understanding of how truncated dystrophin is produced in GRMD may allow this mechanism to be manipulated toward a potential therapy for DMD.

Item Type: Journal Article
Publisher: John Wiley and Sons Inc.
Copyright: © 1998 John Wiley & Sons, Inc.
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