Retinitis pigmentosa GTPase regulator

Retinitis pigmentosa GTPase regulator, also known as RPGR, is a human gene.cite web | title = Entrez Gene: RPGR retinitis pigmentosa GTPase regulator| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6103| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined.

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Jin ZB, Hayakawa M, Murakami A, Nao-i N |title=RCC1-like domain and ORF15: essentials in RPGR gene. |journal=Adv. Exp. Med. Biol. |volume=572 |issue= |pages= 29–33 |year= 2007 |pmid= 17249551 |doi=
*cite journal | author=Ott J, Bhattacharya S, Chen JD, "et al." |title=Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=87 |issue= 2 |pages= 701–4 |year= 1990 |pmid= 2300556 |doi=
*cite journal | author=McGuire RE, Sullivan LS, Blanton SH, "et al." |title=X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11. |journal=Am. J. Hum. Genet. |volume=57 |issue= 1 |pages= 87–94 |year= 1995 |pmid= 7611300 |doi=
*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Meindl A, Dry K, Herrmann K, "et al." |title=A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). |journal=Nat. Genet. |volume=13 |issue= 1 |pages= 35–42 |year= 1996 |pmid= 8673101 |doi= 10.1038/ng0596-35
*cite journal | author=Roepman R, van Duijnhoven G, Rosenberg T, "et al." |title=Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. |journal=Hum. Mol. Genet. |volume=5 |issue= 7 |pages= 1035–41 |year= 1997 |pmid= 8817343 |doi=
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Fujita R, Buraczynska M, Gieser L, "et al." |title=Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families. |journal=Am. J. Hum. Genet. |volume=61 |issue= 3 |pages= 571–80 |year= 1997 |pmid= 9326322 |doi=
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=
*cite journal | author=Buraczynska M, Wu W, Fujita R, "et al." |title=Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. |journal=Am. J. Hum. Genet. |volume=61 |issue= 6 |pages= 1287–92 |year= 1998 |pmid= 9399904 |doi=
*cite journal |author=Hardcastle AJ, David-Gray ZK, Jay M, "et al." |title=Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp. |journal=Invest. Ophthalmol. Vis. Sci. |volume=38 |issue= 13 |pages= 2750–5 |year= 1998 |pmid= 9418727 |doi=
*cite journal | author=Yan D, Swain PK, Breuer D, "et al." |title=Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr). |journal=J. Biol. Chem. |volume=273 |issue= 31 |pages= 19656–63 |year= 1998 |pmid= 9677393 |doi=
*cite journal | author=Fishman GA, Grover S, Jacobson SG, "et al." |title=X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60. |journal=Ophthalmology |volume=105 |issue= 12 |pages= 2286–96 |year= 1998 |pmid= 9855162 |doi= 10.1016/S0161-6420(98)91231-3
*cite journal | author=Linari M, Ueffing M, Manson F, "et al." |title=The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 4 |pages= 1315–20 |year= 1999 |pmid= 9990021 |doi=
*cite journal | author=Dry KL, Manson FD, Lennon A, "et al." |title=Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3). |journal=Hum. Mutat. |volume=13 |issue= 2 |pages= 141–5 |year= 1999 |pmid= 10094550 |doi= 10.1002/(SICI)1098-1004(1999)13:2<141::AID-HUMU6>3.0.CO;2-Q |doilabel=10.1002/(SICI)1098-1004(1999)13:2141::AID-HUMU63.0.CO;2-Q
*cite journal | author=Kirschner R, Rosenberg T, Schultz-Heienbrok R, "et al." |title=RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. |journal=Hum. Mol. Genet. |volume=8 |issue= 8 |pages= 1571–8 |year= 1999 |pmid= 10401007 |doi=
*cite journal | author=Zito I, Thiselton DL, Gorin MB, "et al." |title=Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus. |journal=Hum. Genet. |volume=105 |issue= 1-2 |pages= 57–62 |year= 1999 |pmid= 10480356 |doi=
*cite journal | author=Miano MG, Testa F, Strazzullo M, "et al." |title=Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. |journal=Eur. J. Hum. Genet. |volume=7 |issue= 6 |pages= 687–94 |year= 1999 |pmid= 10482958 |doi= 10.1038/sj.ejhg.5200352
*cite journal | author=Hong DH, Pawlyk BS, Shang J, "et al." |title=A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 7 |pages= 3649–54 |year= 2000 |pmid= 10725384 |doi= 10.1073/pnas.060037497
*cite journal | author=Zito I, Gorin MB, Plant C, "et al." |title=Novel mutations of the RPGR gene in RP3 families. |journal=Hum. Mutat. |volume=15 |issue= 4 |pages= 386 |year= 2000 |pmid= 10737996 |doi= 10.1002/(SICI)1098-1004(200004)15:4<386::AID-HUMU23>3.0.CO;2-4 |doilabel=10.1002/(SICI)1098-1004(200004)15:4386::AID-HUMU233.0.CO;2-4

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