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Alternative dystrophin gene transcripts in golden retriever muscular dystrophy

✍ Scribed by Scott J. Schatzberg; Louise V.B. Anderson; Stephen D. Wilton; Joe N. Kornegay; Christopher J. Mann; Gregory G. Solomon; Nicholas J.H. Sharp

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 355 KB
Volume: 21
Category: Article
ISSN: 0148-639X
DOI: 10.1002/(sici)1097-4598(199808)21:8<991::aid-mus2>3.0.co;2-0

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✦ Synopsis

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.

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