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- W2031851199 abstract "Progressive retinal atrophy (PRA) is a leading hereditary cause of blindness in pedigree dogs as is its counterpart retinitis pigmentosa (RP) in humans. PRA shows genetic heterogeneity, as does RP, with several distinct forms already recognized and several more remaining to be investigated. Progress in molecular genetics has allowed the identification of the gene mutation responsible for an early onset form of PRA in the Irish setter, classified as rod-cone dysplasia type 1. The gene involved is the beta-subunit of cyclic guanosine monophosphate phosphodiesterase which encodes a protein of the visual transduction cascade. Investigation of this gene in other breeds of dog with PRA has failed to find further breeds with the same mutation. Other genes that have been investigated include those encoding other proteins in the visual transduction cascade and for photoreceptor specific structural proteins. Further disease causing mutations have not yet been identified. Recently, developments in the mapping of the canine genome have produced sufficient markers to allow preliminary mapping of PRA genes. Already linkage to the most common form of PRA, progressive rod-cone degeneration (prcd), has been established. prcd occurs in poodles, cocker spaniels and Labrador retrievers and possibly other breeds. The prcd-linked marker should enable development of a DNA-based test for the disease locus and facilitate identification of the actual disease causing gene mutation. Over the next few years we can look forward to the identification of several more PRA-causing gene mutations. This article will review research that seeks to characterize PRA in the dog, identify the responsible gene mutations, and elucidate the disease processes involved." @default.
- W2031851199 created "2016-06-24" @default.
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- W2031851199 date "1998-01-01" @default.
- W2031851199 modified "2023-09-23" @default.
- W2031851199 title "A review of research to elucidate the causes of thegeneralized progressive retinal atrophies" @default.
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- W2031851199 doi "https://doi.org/10.1016/s1090-0233(98)80028-2" @default.
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