An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy

Genomics. 1992 May;13(1):115-21. doi: 10.1016/0888-7543(92)90210-j.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Blotting, Northern
  • Blotting, Southern
  • Dogs / genetics
  • Dogs / metabolism
  • Dystrophin / chemistry
  • Dystrophin / genetics*
  • Exons / genetics
  • Introns / genetics
  • Male
  • Molecular Sequence Data
  • Muscular Dystrophy, Animal / physiopathology*
  • Mutation / genetics
  • RNA Processing, Post-Transcriptional / genetics*
  • RNA, Messenger / metabolism*


  • Dystrophin
  • RNA, Messenger