Rpgr

Summary

Gene Symbol: Rpgr
Description: retinitis pigmentosa GTPase regulator
Alias: Rd9, Rp3h, X-linked retinitis pigmentosa GTPase regulator, mRpgr
Species: mouse
Products:     Rpgr

Top Publications

  1. Kirschner R, Rosenberg T, Schultz Heienbrok R, Lenzner S, Feil S, Roepman R, et al. RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. Hum Mol Genet. 1999;8:1571-8 pubmed
    ..Mutations in the retinitis pigmentosa GTPase regulator ( RPGR ), a ubiquitously expressed gene at the RP3 locus in Xp21.1, account for approximately 20% of all X-linked cases...
  2. Vervoort R, Lennon A, Bird A, Tulloch B, Axton R, Miano M, et al. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet. 2000;25:462-6 pubmed
    The gene RPGR was previously identified in the RP3 region of Xp21.1 and shown to be mutated in 10-20% of patients with the progressive retinal degeneration X-linked retinitis pigmentosa (XLRP)...
  3. Brunner S, Skosyrski S, Kirschner Schwabe R, Knobeloch K, Neidhardt J, Feil S, et al. Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds. Invest Ophthalmol Vis Sci. 2010;51:1106-15 pubmed publisher
    To establish mouse models for RPGR-associated diseases by generating and characterizing an Rpgr mutation (in-frame deletion of exon 4) in two different genetic backgrounds (BL/6 and BALB/c)...
  4. Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, et al. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet. 2006;15:1847-57 pubmed
    ..We show that, in the retina, CEP290 associates with several microtubule-based transport proteins including RPGR, which is mutated in approximately 15% of patients with retinitis pigmentosa...
  5. Shu X, Fry A, Tulloch B, Manson F, Crabb J, Khanna H, et al. RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin. Hum Mol Genet. 2005;14:1183-97 pubmed
    The ORF15 isoform of RPGR (RPGR(ORF15)) and RPGR interacting protein 1 (RPGRIP1) are mutated in a variety of retinal dystrophies but their functions are poorly understood...
  6. Hong D, Pawlyk B, Shang J, Sandberg M, Berson E, Li T. A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Proc Natl Acad Sci U S A. 2000;97:3649-54 pubmed
    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...
  7. Otto E, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, et al. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet. 2005;37:282-8 pubmed
    ..Hence, we examined the interaction of nephrocystin-5 with RPGR (retinitis pigmentosa GTPase regulator), which is expressed in photoreceptor cilia and associated with 10-20% of ..
  8. Yan D, Swain P, Breuer D, Tucker R, Wu W, Fujita R, et al. Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr). J Biol Chem. 1998;273:19656-63 pubmed
    ..We have characterized the full-length and variant cDNAs corresponding to the mouse homolog of the RPGR gene (mRpgr). Comparison with the human cDNA revealed sequence identity primarily in the region of RCC1 homology repeats...
  9. Hong D, Yue G, Adamian M, Li T. Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium. J Biol Chem. 2001;276:12091-9 pubmed
    ..Mutations in the gene for retinitis pigmentosa GTPase regulator (RPGR) are a frequent cause of RP...

More Information

Publications38

  1. Thompson D, Khan N, Othman M, Chang B, Jia L, Grahek G, et al. Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15. PLoS ONE. 2012;7:e35865 pubmed publisher
    ..Mutations in the gene encoding retinitis pigmentosa GTPase regulator (RPGR) are the most common cause of X-linked retinitis pigmentosa (XLRP) and are estimated to cause 20% of all retinal ..
  2. Khanna H, Hurd T, Lillo C, Shu X, Parapuram S, He S, et al. RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins. J Biol Chem. 2005;280:33580-7 pubmed
    Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene account for almost 20% of patients with retinitis pigmentosa...
  3. Mavlyutov T, Zhao H, Ferreira P. Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species. Hum Mol Genet. 2002;11:1899-907 pubmed
    The retinitis pigmentosa GTPase regulator (RPGR) is encoded by the X-linked RP3 locus, which upon genetic lesions leads to neurodegeneration of photoreceptors and blindness...
  4. Kirschner R, Erturk D, Zeitz C, Sahin S, Ramser J, Cremers F, et al. DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements. Hum Genet. 2001;109:271-8 pubmed
    Retinitis pigmentosa 3 (RP3) is a progressive retinal degeneration due to mutations in the X-linked RPGR gene...
  5. Wu Z, Hiriyanna S, Qian H, Mookherjee S, Campos M, Gao C, et al. A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration. Hum Mol Genet. 2015;24:3956-70 pubmed publisher
    Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene account for >70% of X-linked retinitis pigmentosa (XLRP) and 15-20% of all inherited retinal degeneration...
  6. Rao K, Li L, Anand M, Khanna H. Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition. Sci Rep. 2015;5:11137 pubmed publisher
    ..Mutations in the ciliary protein RPGR (retinitis pigmentosa GTPase regulator) are a prominent cause of severe blindness disorders due to degeneration of ..
  7. Rao K, Li L, Zhang W, Brush R, Rajala R, Khanna H. Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina. Hum Mol Genet. 2016;25:1345-56 pubmed publisher
    It is unclear how genes, such as RPGR (retinitis pigmentosa guanine triphosphatase regulator) that are expressed in both rods and cones, cause variable disease pathogenesis...
  8. Hong D, Pawlyk B, Adamian M, Li T. Dominant, gain-of-function mutant produced by truncation of RPGR. Invest Ophthalmol Vis Sci. 2004;45:36-41 pubmed
    The retinitis pigmentosa GTPase regulator (RPGR) is essential in the maintenance of photoreceptor viability. Mutations in the X-linked RPGR gene have generally been assumed to be recessive...
  9. Rao K, Zhang W, Li L, Ronquillo C, Baehr W, Khanna H. Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR. Hum Mol Genet. 2016;25:2005-2012 pubmed
    Mutations in RPGR (retinitis pigmentosa GTPase regulator) are the most common cause of X-linked RP, a severe blindness disorder. RPGR mutations result in clinically variable disease with early- to late-onset phenotypic presentation...
  10. Murga Zamalloa C, Desai N, Hildebrandt F, Khanna H. Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas. Mol Vis. 2010;16:1373-81 pubmed
    Retinitis pigmentosa GTPase regulator (RPGR) is a cilia-centrosomal protein that frequently mutates in X-linked retinal degeneration and associated disorders. RPGR interacts with multiple ciliary proteins in the retina...
  11. Patil S, Verma R, Venkatareddy M, Khanna H. Expression and localization of the ciliary disease protein retinitis pigmentosa GTPase regulator in mammalian kidney. Kidney Int. 2010;78:622-3 pubmed publisher
  12. Charng J, Cideciyan A, Jacobson S, Sumaroka A, Schwartz S, Swider M, et al. Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration. Hum Mol Genet. 2016;25:5444-5459 pubmed publisher
    Mutations in the ORF15 exon of the RPGR gene cause a common form of X-linked retinitis pigmentosa, which often results in severe loss of vision...
  13. Wright R, Hong D, Perkins B. Misexpression of the constitutive Rpgr(ex1-19) variant leads to severe photoreceptor degeneration. Invest Ophthalmol Vis Sci. 2011;52:5189-201 pubmed publisher
    Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene are a frequent cause of X-linked retinitis pigmentosa...
  14. Megaw R, Abu Arafeh H, JUNGNICKEL M, Mellough C, Gurniak C, Witke W, et al. Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models. Nat Commun. 2017;8:271 pubmed publisher
    Mutations in the Retinitis Pigmentosa GTPase Regulator (RPGR) cause X-linked RP (XLRP), an untreatable, inherited retinal dystrophy that leads to premature blindness...
  15. Zou J, Luo L, Shen Z, Chiodo V, Ambati B, Hauswirth W, et al. Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors. Invest Ophthalmol Vis Sci. 2011;52:2343-51 pubmed publisher
    ..The combined hRK and AAV gene delivery system could be an effective gene therapy approach to treat retinal degeneration in USH2D patients. ..
  16. Blewitt M, Gendrel A, Pang Z, Sparrow D, Whitelaw N, Craig J, et al. SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation. Nat Genet. 2008;40:663-9 pubmed publisher
    ..This finding links a group of proteins normally associated with structural aspects of chromosome biology with epigenetic gene silencing. ..
  17. Zhao Y, Hong D, Pawlyk B, Yue G, Adamian M, Grynberg M, et al. The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis. Proc Natl Acad Sci U S A. 2003;100:3965-70 pubmed
    ..Defects in the retinitis pigmentosa GTPase regulator (RPGR) and an RPGR-interacting protein (RPGRIP) are known causes of retinitis pigmentosa and LCA, respectively...
  18. Zeiss C, Ray K, Acland G, Aguirre G. Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3). Hum Mol Genet. 2000;9:531-7 pubmed
    ..By typing the XLPRA pedigree with five intragenic markers [dystrophin, retinitis pigmentosa GTPase regulator ( RPGR ), tissue inhibitor of metalloproteinases 1, androgen receptor and factor IX], we established a linkage map of the ..
  19. Linari M, Ueffing M, Manson F, Wright A, Meitinger T, Becker J. The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. Proc Natl Acad Sci U S A. 1999;96:1315-20 pubmed
    Recently, the retinitis pigmentosa 3 (RP3) gene has been cloned and named retinitis pigmentosa GTPase regulator (RPGR)...
  20. Omori Y, Chaya T, Katoh K, Kajimura N, Sato S, Muraoka K, et al. Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival. Proc Natl Acad Sci U S A. 2010;107:22671-6 pubmed publisher
    ..These results suggest that Mak is essential for the regulation of ciliary length and is required for the long-term survival of photoreceptors. ..
  21. Yao J, Feathers K, Khanna H, Thompson D, Tsilfidis C, Hauswirth W, et al. XIAP therapy increases survival of transplanted rod precursors in a degenerating host retina. Invest Ophthalmol Vis Sci. 2011;52:1567-72 pubmed publisher
    To assess the survival of rod precursor cells transplanted into the Rd9 mouse, a model of X-linked retinal degeneration, and the effect of antiapoptotic therapy with X-linked inhibitor of apoptosis (XIAP) on preventing cell loss...
  22. Huang W, Wright A, Roman A, Cideciyan A, Manson F, Gewaily D, et al. RPGR-associated retinal degeneration in human X-linked RP and a murine model. Invest Ophthalmol Vis Sci. 2012;53:5594-608 pubmed publisher
    We investigated the retinal disease due to mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in human patients and in an Rpgr conditional knockout (cko) mouse model.
  23. Brunner S, Colman D, Travis A, Luhmann U, Shi W, Feil S, et al. Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly. Biol Reprod. 2008;79:608-17 pubmed publisher
    ..Mutations in the retinitis pigmentosa GTPase regulator gene (RPGR) are best known for leading to retinal degeneration but have also been associated with ciliary dysfunctions ..
  24. Rao K, Anand M, Khanna H. The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo. Biol Open. 2016;5:424-8 pubmed publisher
    ..b>RPGR(ORF15)(1152 residues) is a ciliary protein involved in regulating the composition and function of photoreceptor ..
  25. Sun X, Park J, Gumerson J, Wu Z, Swaroop A, Qian H, et al. Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations. Proc Natl Acad Sci U S A. 2016;113:E2925-34 pubmed publisher
    Mutations in the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene are a major cause of retinitis pigmentosa, a blinding retinal disease resulting from photoreceptor degeneration...
  26. Chang B, Hawes N, Hurd R, Davisson M, Nusinowitz S, Heckenlively J. Retinal degeneration mutants in the mouse. Vision Res. 2002;42:517-25 pubmed
    ..rd7, now Nr2e3(rd7)); neuronal ceroid lipofuscinosis (nclf); retinal degeneration 8 (rd8); retinal degeneration 9 (Rd9); retinal degeneration 10 (rd10, now Pde6b(rd10)); and cone photoreceptor function loss (cpfl1)...
  27. Wright R, Hong D, Perkins B. RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms. Invest Ophthalmol Vis Sci. 2012;53:1519-29 pubmed publisher
    Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene are a frequent cause of X-linked retinitis pigmentosa...
  28. Hong D, Pawlyk B, Adamian M, Sandberg M, Li T. A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo. Invest Ophthalmol Vis Sci. 2005;46:435-41 pubmed
    The retinitis pigmentosa GTPase regulator (RPGR) is essential for the maintenance of photoreceptor viability. RPGR is expressed as constitutive and ORF15 variants because of alternative splicing...