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Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa
- Source :
- Proceedings of the National Academy of Sciences of the United States of America. 99(9)
- Publication Year :
- 2002
-
Abstract
- Rhodopsin is the G protein-coupled receptor that is activated by light and initiates the transduction cascade leading to night (rod) vision. Naturally occurring pathogenic rhodopsin ( RHO ) mutations have been previously identified only in humans and are a common cause of dominantly inherited blindness from retinal degeneration. We identified English Mastiff dogs with a naturally occurring dominant retinal degeneration and determined the cause to be a point mutation in the RHO gene (Thr4Arg). Dogs with this mutant allele manifest a retinal phenotype that closely mimics that in humans with RHO mutations. The phenotypic features shared by dog and man include a dramatically slowed time course of recovery of rod photoreceptor function after light exposure and a distinctive topographic pattern to the retinal degeneration. The canine disease offers opportunities to explore the basis of prolonged photoreceptor recovery after light in RHO mutations and determine whether there are links between the dysfunction and apoptotic retinal cell death. The RHO mutant dog also becomes the large animal needed for preclinical trials of therapies for a major subset of human retinopathies.
- Subjects :
- Retinal degeneration
Rhodopsin
Time Factors
X Chromosome
genetic structures
Genetic Linkage
DNA Mutational Analysis
Molecular Sequence Data
Protein Structure, Secondary
chemistry.chemical_compound
Dogs
Retinitis pigmentosa
medicine
Electroretinography
Animals
Humans
Point Mutation
Photoreceptor Cells
Tomography
Genes, Dominant
Progressive retinal atrophy
Genetics
Multidisciplinary
Gene therapy of the human retina
biology
medicine.diagnostic_test
Point mutation
Cell Membrane
Retinal
Biological Sciences
medicine.disease
Immunohistochemistry
Cell biology
Phenotype
chemistry
Mutation
biology.protein
Retinitis Pigmentosa
Subjects
Details
- ISSN :
- 00278424
- Volume :
- 99
- Issue :
- 9
- Database :
- OpenAIRE
- Journal :
- Proceedings of the National Academy of Sciences of the United States of America
- Accession number :
- edsair.doi.dedup.....b7c1c777e5c903bc17599a9b218ddf4f