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- Title
Alternative dystrophin gene transcripts in golden retriever muscular dystrophy.
- Authors
Schatzberg, Scott J.; Anderson, Louise V.B.; Wilton, Stephen D.; Kornegay, Joe N.; Mann, Christopher J.; Solomon, Gregory G.; Sharp, Nicholas J.H.; Schatzberg, S J; Anderson, L V; Wilton, S D; Kornegay, J N; Mann, C J; Solomon, G G; Sharp, N J
- Abstract
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.
- Publication
Muscle & Nerve, 1998, Vol 21, Issue 8, p991
- ISSN
0148-639X
- Publication type
journal article
- DOI
10.1002/(SICI)1097-4598(199808)21:8<991::AID-MUS2>3.0.CO;2-0