Retinitis pigmentosa GTPase regulator
| Retinitis pigmentosa GTPase regulator | |||||||||||
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| Identifiers | |||||||||||
| Symbols | RPGR ; CRD; COD1; CORDX1; PCDX; RP15; RP3; XLRP3; orf15 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 55455 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE RPGR 207624 s at tn.png | |||||||||||
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| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
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Retinitis pigmentosa GTPase regulator, also known as RPGR, is a human gene.[1]
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.[1]
References
Further reading
- Jin ZB, Hayakawa M, Murakami A, Nao-i N (2007). "RCC1-like domain and ORF15: essentials in RPGR gene". Adv. Exp. Med. Biol. 572: 29–33. PMID 17249551.
- Ott J, Bhattacharya S, Chen JD; et al. (1990). "Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests". Proc. Natl. Acad. Sci. U.S.A. 87 (2): 701–4. PMID 2300556.
- McGuire RE, Sullivan LS, Blanton SH; et al. (1995). "X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11". Am. J. Hum. Genet. 57 (1): 87–94. PMID 7611300.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
- Meindl A, Dry K, Herrmann K; et al. (1996). "A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)". Nat. Genet. 13 (1): 35–42. doi:10.1038/ng0596-35. PMID 8673101.
- Roepman R, van Duijnhoven G, Rosenberg T; et al. (1997). "Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1". Hum. Mol. Genet. 5 (7): 1035–41. PMID 8817343.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.
- Fujita R, Buraczynska M, Gieser L; et al. (1997). "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". Am. J. Hum. Genet. 61 (3): 571–80. PMID 9326322.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149.
- Buraczynska M, Wu W, Fujita R; et al. (1998). "Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa". Am. J. Hum. Genet. 61 (6): 1287–92. PMID 9399904.
- Hardcastle AJ, David-Gray ZK, Jay M; et al. (1998). "Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp". Invest. Ophthalmol. Vis. Sci. 38 (13): 2750–5. PMID 9418727.
- Yan D, Swain PK, Breuer D; et al. (1998). "Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)". J. Biol. Chem. 273 (31): 19656–63. PMID 9677393.
- Fishman GA, Grover S, Jacobson SG; et al. (1998). "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". Ophthalmology. 105 (12): 2286–96. doi:10.1016/S0161-6420(98)91231-3. PMID 9855162.
- Linari M, Ueffing M, Manson F; et al. (1999). "The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase". Proc. Natl. Acad. Sci. U.S.A. 96 (4): 1315–20. PMID 9990021.
- Dry KL, Manson FD, Lennon A; et al. (1999). "Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)". Hum. Mutat. 13 (2): 141–5. doi:10.1002/(SICI)1098-1004(1999)13:2<141::AID-HUMU6>3.0.CO;2-Q. PMID 10094550.
- Kirschner R, Rosenberg T, Schultz-Heienbrok R; et al. (1999). "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. 8 (8): 1571–8. PMID 10401007.
- Zito I, Thiselton DL, Gorin MB; et al. (1999). "Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus". Hum. Genet. 105 (1–2): 57–62. PMID 10480356.
- Miano MG, Testa F, Strazzullo M; et al. (1999). "Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa". Eur. J. Hum. Genet. 7 (6): 687–94. doi:10.1038/sj.ejhg.5200352. PMID 10482958.
- Hong DH, Pawlyk BS, Shang J; et al. (2000). "A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3649–54. doi:10.1073/pnas.060037497. PMID 10725384.
- Zito I, Gorin MB, Plant C; et al. (2000). "Novel mutations of the RPGR gene in RP3 families". Hum. Mutat. 15 (4): 386. doi:10.1002/(SICI)1098-1004(200004)15:4<386::AID-HUMU23>3.0.CO;2-4. PMID 10737996.