title: An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy.
abstract: 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.
authors.affiliation: Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.
authors.forename: N J
authors.initials: NJ
authors.lastname: Sharp
authors.forename: J N
authors.initials: JN
authors.lastname: Kornegay
authors.forename: S D
authors.initials: SD
authors.lastname: Van Camp
authors.forename: M H
authors.initials: MH
authors.lastname: Herbstreith
authors.forename: S L
authors.initials: SL
authors.lastname: Secore
authors.forename: S
authors.initials: S
authors.lastname: Kettle
authors.forename: W Y
authors.initials: WY
authors.lastname: Hung
authors.forename: C D
authors.initials: CD
authors.lastname: Constantinou
authors.forename: M J
authors.initials: MJ
authors.lastname: Dykstra
authors.forename: A D
authors.initials: AD
authors.lastname: Roses
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D015139:Blotting, Southern; D004285:Dogs / Q000235:genetics / Q000378:metabolism; D016189:Dystrophin / Q000737:chemistry / Q000235:genetics*; D005091:Exons / Q000235:genetics; D007438:Introns / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009137:Muscular Dystrophy, Animal / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics; D012323:RNA Processing, Post-Transcriptional / Q000235:genetics*; D012333:RNA, Messenger / Q000378:metabolism*
chemical_list: D016189:Dystrophin; D012333:RNA, Messenger