title: A novel dystrophin isoform is required for normal retinal electrophysiology.
abstract: Dystrophin is present in the outer plexiform layer of the retina and is required for normal retinal function as measured by electroretinography. We describe the identification of a novel isoform of dystrophin (Dp260) present in the mouse retina. The unique 5' terminus of the mRNA originates from a newly identified exon and is spliced in frame to exon 30 of the Duchenne muscular dystrophy (DMD) gene. The retinal isoform of dystrophin has 13 novel amino acids as its N-terminus followed by most of the dystrophin rod domain and the cysteine-rich C-terminal domains. Analysis of mouse tissues indicated this isoform of dystrophin is expressed in retina, brain and cardiac tissue. Comparison of retinal electrophysiology in mdx and mdxCv3 mouse suggests that Dp260 is required for normal retinal function.
authors.affiliation: Department of Genetics and Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: V N
authors.initials: VN
authors.lastname: D'Souza
authors.forename: T M
authors.initials: TM
authors.lastname: Nguyen
authors.forename: G E
authors.initials: GE
authors.lastname: Morris
authors.forename: W
authors.initials: W
authors.lastname: Karges
authors.forename: D A
authors.initials: DA
authors.lastname: Pillers
authors.forename: P N
authors.initials: PN
authors.lastname: Ray
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D000911:Antibodies, Monoclonal; D001483:Base Sequence; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics; D016189:Dystrophin / Q000235:genetics* / Q000276:immunology / Q000502:physiology*; D004594:Electrophysiology; D005091:Exons; D006801:Humans; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains; D008969:Molecular Sequence Data; D009137:Muscular Dystrophy, Animal / Q000235:genetics; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics; D012160:Retina / Q000502:physiology*; D014018:Tissue Distribution
chemical_list: D000911:Antibodies, Monoclonal; D018076:DNA, Complementary; D016189:Dystrophin; D012333:RNA, Messenger