A Retinitis Pigmentosa GTPase Regulator (RPGR)-Deficient Mouse Model for X-Linked Retinitis Pigmentosa (RP3)

The X-linked RP3 locus codes for retinitis pigmentosa GTPase regulator (RPGR), a protein of unknown function with sequence homology to the guanine nucleotide exchange factor for Ran GTPase. We created an RPGR-deficient murine model by gene knockout. In the mutant mice, cone photoreceptors exhibit ec...

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Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 2000-03, Vol.97 (7), p.3649-3654
Main Authors: Hong, Dong-Hyun, Pawlyk, Basil S., Shang, Jingzi, Sandberg, Michael A., Berson, Eliot L., Li, Tiansen
Format: Article
Language:English
Subjects:
Animals
Antibodies
Base Sequence
Biological Sciences
Carrier Proteins - genetics
Carrier Proteins - metabolism
Cilia
Cone opsins
Disease
Disease Models, Animal
DNA Primers
Exons
Eye Proteins
Female
Genes
Genetic Linkage
Male
Mice
Mice, Inbred C57BL
Microscopy, Electron
Neurology
opsins
Photoreceptor Cells, Vertebrate - metabolism
Photoreceptor Cells, Vertebrate - ultrastructure
Photoreceptors
Regulator genes
Retina
Retinal rods
Retinitis pigmentosa
Retinitis Pigmentosa - genetics
retinitis pigmentosa GTPase regulator
Rodents
X Chromosome
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Description
Summary:The X-linked RP3 locus codes for retinitis pigmentosa GTPase regulator (RPGR), a protein of unknown function with sequence homology to the guanine nucleotide exchange factor for Ran GTPase. We created an RPGR-deficient murine model by gene knockout. In the mutant mice, cone photoreceptors exhibit ectopic localization of cone opsins in the cell body and synapses and rod photoreceptors have a reduced level of rhodopsin. Subsequently, both cone and rod photoreceptors degenerate. RPGR was found normally localized to the connecting cilia of rod and cone photoreceptors. These data point to a role for RPGR in maintaining the polarized protein distribution across the connecting cilium by facilitating directional transport or restricting redistribution. The function of RPGR is essential for the long-term maintenance of photoreceptor viability.
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.060037497