“Retinitis pigmentosa GTPase regulator”的意思、由来-开放百科全书

Function

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.^[4]

Interactions

Retinitis pigmentosa GTPase regulator has been shown to interact with PDE6D^[5] nephronophthisis (NPHP) proteins^[6] and RPGRIP1.^[7]

References

1. ^{{cite journal | vauthors = Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A, Carvalho MR, Achatz H, Hellebrand H, Lennon A, Migliaccio C, Porter K, Zrenner E, Bird A, Jay M, Lorenz B, Wittwer B, D'Urso M, Meitinger T, Wright A | title = A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3) | journal = Nature Genetics | volume = 13 | issue = 1 | pages = 35–42 | date = May 1996 | pmid = 8673101 | pmc = | doi = 10.1038/ng0596-35 }}
2. ^{{cite journal | vauthors = Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJ, Bleeker-Wagemakers LM, Bergen AA, Post J, Beck A, Reinhardt R, Ropers HH, Cremers FP, Berger W | title = Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1 | journal = Human Molecular Genetics | volume = 5 | issue = 7 | pages = 1035–41 | date = Jul 1996 | pmid = 8817343 | pmc = | doi = 10.1093/hmg/5.7.1035 }}
3. ^{{cite journal | vauthors = Murga-Zamalloa CA, Atkins SJ, Peranen J, Swaroop A, Khanna H | title = Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration | journal = Human Molecular Genetics | volume = 19 | issue = 18 | pages = 3591–8 | date = Sep 2010 | pmid = 20631154 | doi = 10.1093/hmg/ddq275 | pmc=2928130}}
4. ^¹{{cite web | title = Entrez Gene: RPGR retinitis pigmentosa GTPase regulator| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6103| accessdate = }}
5. ^{{cite journal | vauthors = Linari M, Ueffing M, Manson F, Wright A, Meitinger T, Becker J | title = The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 96 | issue = 4 | pages = 1315–20 | date = Feb 1999 | pmid = 9990021 | pmc = 15460 | doi = 10.1073/pnas.96.4.1315 }}
6. ^{{cite journal | vauthors = Murga-Zamalloa CA, Desai NJ, Hildebrandt F, Khanna H | title = Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas | journal = Molecular Vision | volume = 16 | issue = | pages = 1373–81 | date = July 2010 | pmid = 20664800 | doi = | pmc=2905641}}
7. ^{{cite journal | vauthors = Roepman R, Bernoud-Hubac N, Schick DE, Maugeri A, Berger W, Ropers HH, Cremers FP, Ferreira PA | title = The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors | journal = Human Molecular Genetics | volume = 9 | issue = 14 | pages = 2095–105 | date = Sep 2000 | pmid = 10958648 | doi = 10.1093/hmg/9.14.2095 }}

Further reading

{{Cite book | vauthors = Jin ZB, Hayakawa M, Murakami A, Nao-i N | chapter = RCC1-like domain and ORF15: essentials in RPGR gene | volume = 572 | issue = | pages = 29–33 | year = 2007 | pmid = 17249551 | doi = 10.1007/0-387-32442-9_5 | isbn = 978-0-387-28464-4 | series = Advances in Experimental Medicine and Biology | title = Retinal Degenerative Diseases }}

{{cite journal | vauthors = Ott J, Bhattacharya S, Chen JD, Denton MJ, Donald J, Dubay C, Farrar GJ, Fishman GA, Frey D, Gal A | title = Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 87 | issue = 2 | pages = 701–4 | date = Jan 1990 | pmid = 2300556 | pmc = 53333 | doi = 10.1073/pnas.87.2.701 }}

{{cite journal | vauthors = McGuire RE, Sullivan LS, Blanton SH, Church MW, Heckenlively JR, Daiger SP | title = X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11 | journal = American Journal of Human Genetics | volume = 57 | issue = 1 | pages = 87–94 | date = Jul 1995 | pmid = 7611300 | pmc = 1801245 | doi = }}

{{cite journal | vauthors = 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 | date = Jan 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}

{{cite journal | vauthors = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Research | volume = 6 | issue = 9 | pages = 791–806 | date = Sep 1996 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 }}

{{cite journal | vauthors = Fujita R, Buraczynska M, Gieser L, Wu W, Forsythe P, Abrahamson M, Jacobson SG, Sieving PA, Andréasson S, Swaroop A | 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 = American Journal of Human Genetics | volume = 61 | issue = 3 | pages = 571–80 | date = Sep 1997 | pmid = 9326322 | pmc = 1715956 | doi = 10.1086/515523 }}

{{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | 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 | date = Oct 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}

{{cite journal | vauthors = Buraczynska M, Wu W, Fujita R, Buraczynska K, Phelps E, Andréasson S, Bennett J, Birch DG, Fishman GA, Hoffman DR, Inana G, Jacobson SG, Musarella MA, Sieving PA, Swaroop A | title = Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa | journal = American Journal of Human Genetics | volume = 61 | issue = 6 | pages = 1287–92 | date = Dec 1997 | pmid = 9399904 | pmc = 1716085 | doi = 10.1086/301646 }}

{{cite journal | vauthors = Hardcastle AJ, David-Gray ZK, Jay M, Bird AC, Bhattacharya SS | title = Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp | journal = Investigative Ophthalmology & Visual Science | volume = 38 | issue = 13 | pages = 2750–5 | date = Dec 1997 | pmid = 9418727 | doi = }}

{{cite journal | vauthors = Yan D, Swain PK, Breuer D, Tucker RM, Wu W, Fujita R, Rehemtulla A, Burke D, Swaroop A | title = Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr) | journal = The Journal of Biological Chemistry | volume = 273 | issue = 31 | pages = 19656–63 | date = Jul 1998 | pmid = 9677393 | doi = 10.1074/jbc.273.31.19656 }}

{{cite journal | vauthors = Fishman GA, Grover S, Jacobson SG, Alexander KR, Derlacki DJ, Wu W, Buraczynska M, Swaroop A | 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 | date = Dec 1998 | pmid = 9855162 | doi = 10.1016/S0161-6420(98)91231-3 }}

{{cite journal | vauthors = Linari M, Ueffing M, Manson F, Wright A, Meitinger T, Becker J | title = The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 96 | issue = 4 | pages = 1315–20 | date = Feb 1999 | pmid = 9990021 | pmc = 15460 | doi = 10.1073/pnas.96.4.1315 }}

{{cite journal | vauthors = Dry KL, Manson FD, Lennon A, Bergen AA, Van Dorp DB, Wright AF | title = Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3) | journal = Human Mutation | 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 }}

{{cite journal | vauthors = Kirschner R, Rosenberg T, Schultz-Heienbrok R, Lenzner S, Feil S, Roepman R, Cremers FP, Ropers HH, Berger W | 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 = Human Molecular Genetics | volume = 8 | issue = 8 | pages = 1571–8 | date = Aug 1999 | pmid = 10401007 | doi = 10.1093/hmg/8.8.1571 }}

{{cite journal | vauthors = Zito I, Thiselton DL, Gorin MB, Stout JT, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ | 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 = Human Genetics | volume = 105 | issue = 1–2 | pages = 57–62 | year = 1999 | pmid = 10480356 | doi = 10.1007/s004390051064 }}

{{cite journal | vauthors = Miano MG, Testa F, Strazzullo M, Trujillo M, De Bernardo C, Grammatico B, Simonelli F, Mangino M, Torrente I, Ruberto G, Beneyto M, Antinolo G, Rinaldi E, Danesino C, Ventruto V, D'Urso M, Ayuso C, Baiget M, Ciccodicola A | title = Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa | journal = European Journal of Human Genetics | volume = 7 | issue = 6 | pages = 687–94 | date = Sep 1999 | pmid = 10482958 | doi = 10.1038/sj.ejhg.5200352 }}

{{cite journal | vauthors = Hong DH, Pawlyk BS, Shang J, Sandberg MA, Berson EL, Li T | title = A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3) | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 97 | issue = 7 | pages = 3649–54 | date = Mar 2000 | pmid = 10725384 | pmc = 16294 | doi = 10.1073/pnas.060037497 }}

{{cite journal | vauthors = Zito I, Gorin MB, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ | title = Novel mutations of the RPGR gene in RP3 families | journal = Human Mutation | volume = 15 | issue = 4 | pages = 386 | date = Apr 2000 | pmid = 10737996 | doi = 10.1002/(SICI)1098-1004(200004)15:4<386::AID-HUMU23>3.0.CO;2-4 }}

{{cite journal | vauthors = Rao KN, Li L, Anand M, Khanna H | title = Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition | journal = Scientific Reports | volume = 5 | pages = 11137 | year = 2015 | pmid = 26068394 | doi = 10.1038/srep11137 | pmc=4463945}}