A novel dystrophin isoform is required for normal retinal electrophysiology |
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| Authors: | D'Souza, Vinita N. Man, Nguyen thi Morris, Glenn E. Karges, Wolfram Pillers, De-Ann M. Ray, Peter N. |
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| Affiliation: | Department of Genetics and Research Institute, The Hospital for Sick Children 555 University Avenue, Toronto, Ontario, M5G 1X8, Canada 1Research Division, NE Wales Institute Deeside, Clwyd, CH5 4BR, UK 2Department of Immunology and Division Research Institute, The Hospital for Sick Children University Avenue, Toronto, Ontario, M5G 1X8, Canada 3Department of Pediatrics, Oregon Health Sciences University 3181 SW Sam Jackson Pk Rd, Portland, OR 97201, USA |
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| Abstract: | Dystrophin is present in the outer plexiform layer of the retinaand is required for normal retinal function as measured by electroretinography.We describe the identification of a novel isoform of dystrophln(Dp260) present in the mouse retina. The unIque 5' terminusof the mRNA originates from a newly identified exon and is splicedin frame to exon 30 of the Duchenne muscular dystrophy (DMD)gene. The retinal isoform of dystrophln has 13 novel amino acidsas its N-terminus followed by most of the dystrophin rod domainand the cysteine-rich C-terminal domains. Analysis of mousetissues indicated this isoform of dystrophin Is expressed inretina, brain and cardiac tissue. Comparison of retinal electrophysiologyin mdx and mdxcv3 mouse suggests that Dp260 is required fornormal retinal function. |
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