| First Author | Sharp NJ | Year | 1992 |
| Journal | Genomics | Volume | 13 |
| Issue | 1 | Pages | 115-21 |
| PubMed ID | 1577476 | Mgi Jnum | J:520 |
| Mgi Id | MGI:49057 | Doi | 10.1016/0888-7543(92)90210-j |
| Citation | Sharp NJ, et al. (1992) An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. Genomics 13(1):115-21 |
| abstractText | Golden retriever muscular dystrophy (GRMD) is a spontaneous, X-linked, progressively fatal disease of dogs and is also a homologue of Duchenne muscular dystrophy (DMD). Two-thirds of DMD patients carry detectable deletions in their dystrophin gene. The defect underlying the remaining one-third of DMD patients is undetermined. Analysis of the canine dystrophin gene in normal and GRMD dogs has failed to demonstrate any detectable loss of exons. Here, we have demonstrated a RNA processing error in GRMD that results from a single base change in the 3' consensus splice site of intron 6. The seventh exon is then skipped, which predicts a termination of the dystrophin reading frame within its N-terminal domain in exon 8. This is the first example of dystrophin deficiency caused by a splice-site mutation. |
