Population Haplotypes of Exon ORF15 of the Retinitis Pigmentosa GTPase Regulator Gene in Germany

2006 ◽  
Vol 10 (2) ◽  
pp. 115-123 ◽  
Author(s):  
Daniela Karra ◽  
Felix K. Jacobi ◽  
Martina Broghammer ◽  
Nikolaus Blin ◽  
Carsten M. Pusch
Keyword(s):  
Retinitis Pigmentosa ◽  
Regulator Gene ◽  
Retinitis Pigmentosa Gtpase Regulator

scholarly journals Evolutionary Characterization of the Retinitis Pigmentosa GTPase Regulator Gene

2015 ◽  
Vol 56 (11) ◽  
pp. 6255 ◽  
Author(s):  
Rakesh Kotapati Raghupathy ◽  
Philippe Gautier ◽  
Dinesh C. Soares ◽  
Alan F. Wright ◽  
Xinhua Shu
Keyword(s):  
Retinitis Pigmentosa ◽  
Regulator Gene ◽  
Retinitis Pigmentosa Gtpase Regulator

scholarly journals The human retinitis pigmentosa GTPase regulator gene variant database

2008 ◽  
Vol 29 (5) ◽  
pp. 605-608 ◽  
Author(s):  
Xinhua Shu ◽  
Ewan McDowall ◽  
Alastair F. Brown ◽  
Alan F. Wright
Keyword(s):  
Retinitis Pigmentosa ◽  
Gene Variant ◽  
Regulator Gene ◽  
Retinitis Pigmentosa Gtpase Regulator ◽  
Variant Database

scholarly journals Expression and localization of the ciliary disease protein retinitis pigmentosa GTPase regulator in mammalian kidney

2010 ◽  
Vol 78 (6) ◽  
pp. 622-623 ◽  
Author(s):  
Suresh B. Patil ◽  
Rakesh Verma ◽  
Madhusudan Venkatareddy ◽  
Hemant Khanna
Keyword(s):  
Retinitis Pigmentosa ◽  
Mammalian Kidney ◽  
Disease Protein ◽  
Retinitis Pigmentosa Gtpase Regulator

scholarly journals Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina

2016 ◽  
Vol 25 (7) ◽  
pp. 1345-1356 ◽  
Author(s):  
Kollu N. Rao ◽  
Linjing Li ◽  
Wei Zhang ◽  
Richard S. Brush ◽  
Raju V.S. Rajala ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Human Disease ◽  
Disease Protein ◽  
Retinitis Pigmentosa Gtpase Regulator

scholarly journals Biochemical Characterization and Subcellular Localization of the Mouse Retinitis Pigmentosa GTPase Regulator (mRpgr)

1998 ◽  
Vol 273 (31) ◽  
pp. 19656-19663 ◽  
Author(s):  
Denise Yan ◽  
Prabodha K. Swain ◽  
Debra Breuer ◽  
Rebecca M. Tucker ◽  
Weiping Wu ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Subcellular Localization ◽  
Biochemical Characterization ◽  
Retinitis Pigmentosa Gtpase Regulator

scholarly journals Retinitis Pigmentosa GTPase Regulator (RPGR)-interacting Protein Is Stably Associated with the Photoreceptor Ciliary Axoneme and Anchors RPGR to the Connecting Cilium

2000 ◽  
Vol 276 (15) ◽  
pp. 12091-12099 ◽  
Author(s):  
Dong-Hyun Hong ◽  
Guohua Yue ◽  
Michael Adamian ◽  
Tiansen Li
Keyword(s):  
Retinitis Pigmentosa ◽  
Coiled Coil ◽  
Retinal Disease ◽  
Photoreceptor Cells ◽  
Nucleotide Exchange ◽  
Specific Expression ◽  
Interacting Protein ◽  
Nucleotide Exchange Factor ◽  
Retinitis Pigmentosa Gtpase Regulator

Retinitis pigmentosa (RP) is a blinding retinal disease in which the photoreceptor cells degenerate. Mutations in the gene for retinitis pigmentosa GTPase regulator (RPGR) are a frequent cause of RP. The function of RPGR is not well understood, but it is thought to be a putative guanine nucleotide exchange factor for an unknown G protein. Ablation of theRPGRgene in mice suggested a role in maintaining the polarized distribution of opsin across the cilia. To investigate its function, we used a protein interaction screen to identify candidate proteins that may interact physiologically with RPGR. One such protein, designated RPGR-interacting protein (RPGRIP), is expressed specifically in rod and cone photoreceptors. It consists of an N-terminal region predicted to form coiled coil structures linked to a C-terminal tail that binds RPGR.In vivo, both proteins co-localize in the photoreceptor connecting cilia. RPGRIP is stably associated with the ciliary axoneme independent of RPGR and is resistant to extraction under conditions that partially solubilized other cytoskeletal components. When over-expressed in heterologous cell lines, RPGRIP appears in insoluble punctate and filamentous structures. These data suggest that RPGRIP is a structural component of the ciliary axoneme, and one of its functions is to anchor RPGR within the cilium. RPGRIP is the only protein known to localize specifically in the photoreceptor connecting cilium. As such, it is a candidate gene for human photoreceptor disease. The tissue-specific expression of RPGRIP explains why mutations in the ubiquitously expressed RPGR confer a photoreceptor-specific phenotype.

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