Gene Review:
RP1 - retinitis pigmentosa 1 (autosomal dominant)
Homo sapiens
Synonyms:
DCDC4A, ORP1, Oxygen-regulated protein 1, Retinitis pigmentosa 1 protein, Retinitis pigmentosa RP1 protein
Koenekoop,
Crabb,
Carlson,
Chen,
Goldflam,
Intres,
West,
Hulmes,
Kapron,
Luck,
Horwitz,
Bok,
Wang,
Chen,
Zhao,
Wang,
Wang,
Traboulsi,
Yokoyama,
Maruiwa,
Hayakawa,
Kanai,
Vervoort,
Wright,
Yamada,
Niikawa,
Naōi,
den Hollander,
Heckenlively,
van den Born,
de Kok,
van der Velde-Visser,
Kellner,
Jurklies,
van Schooneveld,
Blankenagel,
Rohrschneider,
Wissinger,
Cruysberg,
Deutman,
Brunner,
Apfelstedt-Sylla,
Hoyng,
Cremers,
- Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Sullivan, L.S., Heckenlively, J.R., Bowne, S.J., Zuo, J., Hide, W.A., Gal, A., Denton, M., Inglehearn, C.F., Blanton, S.H., Daiger, S.P. Nat. Genet. (1999)
- Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa. Yokoyama, A., Maruiwa, F., Hayakawa, M., Kanai, A., Vervoort, R., Wright, A.F., Yamada, K., Niikawa, N., Naōi, N. Am. J. Med. Genet. (2001)
- Gene mutations in retinitis pigmentosa and their clinical implications. Wang, D.Y., Chan, W.M., Tam, P.O., Baum, L., Lam, D.S., Chong, K.K., Fan, B.J., Pang, C.P. Clin. Chim. Acta (2005)
- Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Blanton, S.H., Heckenlively, J.R., Cottingham, A.W., Friedman, J., Sadler, L.A., Wagner, M., Friedman, L.H., Daiger, S.P. Genomics (1991)
- Phenotype-genotype correlations in X linked retinitis pigmentosa. Kaplan, J., Pelet, A., Martin, C., Delrieu, O., Aymé, S., Bonneau, D., Briard, M.L., Hanauer, A., Larget-Piet, L., Lefrançois, P. J. Med. Genet. (1992)
- A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred. Zhang, L., Wang, T., Wright, A.F., Suri, M., Schwartz, C.E., Stevenson, R.E., Valle, D. Am. J. Med. Genet. A (2006)
- The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Mollet, G., Salomon, R., Gribouval, O., Silbermann, F., Bacq, D., Landthaler, G., Milford, D., Nayir, A., Rizzoni, G., Antignac, C., Saunier, S. Nat. Genet. (2002)
- A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Holt, I.J., Harding, A.E., Petty, R.K., Morgan-Hughes, J.A. Am. J. Hum. Genet. (1990)
- Can blood immunocytes be used to study neuropsychiatric disorders? Singh, V.K., Fudenberg, H.H. The Journal of clinical psychiatry. (1986)
- A self-assessment instrument designed for measuring independent mobility in RP patients: generalizability to glaucoma patients. Turano, K.A., Massof, R.W., Quigley, H.A. Invest. Ophthalmol. Vis. Sci. (2002)
- Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Otto, E.A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J.F., Helou, J., Attanasio, M., Utsch, B., Sayer, J.A., Lillo, C., Jimeno, D., Coucke, P., De Paepe, A., Reinhardt, R., Klages, S., Tsuda, M., Kawakami, I., Kusakabe, T., Omran, H., Imm, A., Tippens, M., Raymond, P.A., Hill, J., Beales, P., He, S., Kispert, A., Margolis, B., Williams, D.S., Swaroop, A., Hildebrandt, F. Nat. Genet. (2005)
- Identification and characterization of rod-derived cone viability factor. Léveillard, T., Mohand-Saïd, S., Lorentz, O., Hicks, D., Fintz, A.C., Clérin, E., Simonutti, M., Forster, V., Cavusoglu, N., Chalmel, F., Dollé, P., Poch, O., Lambrou, G., Sahel, J.A. Nat. Genet. (2004)
- Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. Manfredi, G., Fu, J., Ojaimi, J., Sadlock, J.E., Kwong, J.Q., Guy, J., Schon, E.A. Nat. Genet. (2002)
- Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Bolz, H., von Brederlow, B., Ramírez, A., Bryda, E.C., Kutsche, K., Nothwang, H.G., Seeliger, M., del C-Salcedó Cabrera, M., Vila, M.C., Molina, O.P., Gal, A., Kubisch, C. Nat. Genet. (2001)
- An increased incidence of apolipoprotein E2/E2 and E4/E4 in retinitis pigmentosa. Huq, L., McLachlan, T., Hammer, H.M., Bedford, D., Packard, C.J., Shepherd, J., Converse, C.A. Lipids (1993)
- Mutations in MKKS cause Bardet-Biedl syndrome. Slavotinek, A.M., Stone, E.M., Mykytyn, K., Heckenlively, J.R., Green, J.S., Heon, E., Musarella, M.A., Parfrey, P.S., Sheffield, V.C., Biesecker, L.G. Nat. Genet. (2000)
- Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. Macke, J.P., Davenport, C.M., Jacobson, S.G., Hennessey, J.C., Gonzalez-Fernandez, F., Conway, B.P., Heckenlively, J., Palmer, R., Maumenee, I.H., Sieving, P. Am. J. Hum. Genet. (1993)
- Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Kunkel, L.M., Monaco, A.P., Middlesworth, W., Ochs, H.D., Latt, S.A. Proc. Natl. Acad. Sci. U.S.A. (1985)
- Ataxia with isolated vitamin E deficiency and retinitis pigmentosa. Shimohata, T., Date, H., Ishiguro, H., Suzuki, T., Takano, H., Tanaka, H., Tsuji, S., Hirota, K. Ann. Neurol. (1998)
- Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci. Aldred, M.A., Teague, P.W., Jay, M., Bundey, S., Redmond, R.M., Jay, B., Bird, A.C., Bhattacharya, S.S., Wright, A.F. J. Med. Genet. (1994)
- Update on the molecular genetics of retinitis pigmentosa. Wang, Q., Chen, Q., Zhao, K., Wang, L., Wang, L., Traboulsi, E.I. Ophthalmic Genet. (2001)
- Chromosomal localization and promoter analysis of the adenomatous polyposis coli binding protein RP1. Wadle, A., Thiel, G., Mischo, A., Jung, V., Pfreundschuh, M., Renner, C. Oncogene (2001)
- Mutations in the RPGR gene cause X-linked cone dystrophy. Yang, Z., Peachey, N.S., Moshfeghi, D.M., Thirumalaichary, S., Chorich, L., Shugart, Y.Y., Fan, K., Zhang, K. Hum. Mol. Genet. (2002)
- Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. den Hollander, A.I., Heckenlively, J.R., van den Born, L.I., de Kok, Y.J., van der Velde-Visser, S.D., Kellner, U., Jurklies, B., van Schooneveld, M.J., Blankenagel, A., Rohrschneider, K., Wissinger, B., Cruysberg, J.R., Deutman, A.F., Brunner, H.G., Apfelstedt-Sylla, E., Hoyng, C.B., Cremers, F.P. Am. J. Hum. Genet. (2001)
- Polymorphisms of the interleukin-4 gene in chinese patients with systemic lupus erythematosus in Taiwan. Wu, M.C., Huang, C.M., Tsai, J.J., Chen, H.Y., Tsai, F.J. Lupus (2003)
- Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Roepman, R., van Duijnhoven, G., Rosenberg, T., Pinckers, A.J., Bleeker-Wagemakers, L.M., Bergen, A.A., Post, J., Beck, A., Reinhardt, R., Ropers, H.H., Cremers, F.P., Berger, W. Hum. Mol. Genet. (1996)
- Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C. Bartolini, F., Bhamidipati, A., Thomas, S., Schwahn, U., Lewis, S.A., Cowan, N.J. J. Biol. Chem. (2002)
- Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene. Fujita, Y., Ezura, Y., Emi, M., Ono, S., Takada, D., Takahashi, K., Uemura, K., Iino, Y., Katayama, Y., Bujo, H., Saito, Y. J. Hum. Genet. (2003)
- A heterozygous novel C253Y mutation in the highly conserved cysteine residues of ROM1 gene is the cause of retinitis pigmentosa in a Spanish family? Reig, C., Martinez-Gimeno, M., Carballo, M. Hum. Mutat. (2000)
- RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review. Koenekoop, R.K. Ophthalmic Genet. (2005)
- Structural and functional characterization of recombinant human cellular retinaldehyde-binding protein. Crabb, J.W., Carlson, A., Chen, Y., Goldflam, S., Intres, R., West, K.A., Hulmes, J.D., Kapron, J.T., Luck, L.A., Horwitz, J., Bok, D. Protein Sci. (1998)
- Patterns of retinal light absorption related to retinitis pigmentosa mutants from in silico model structures of rhodopsin. Padrón-García, J.A., Crespo-Otero, R., Hernández-Rodríguez, E.W., Garriga, P., Montero, L.A., García-Piñeiro, J.C. Proteins (2004)
- Cellular immune status in retinitis pigmentosa. Newsome, D.A., Quinn, T.C., Hess, A.D., Pitha-Rowe, P.M. Ophthalmology (1988)
- Ligand-independent hormone secretion. Laue, L. Curr. Opin. Pediatr. (1995)
- Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3. Seymour, A.B., Dash-Modi, A., O'Connell, J.R., Shaffer-Gordon, M., Mah, T.S., Stefko, S.T., Nagaraja, R., Brown, J., Kimura, A.E., Ferrell, R.E., Gorin, M.B. Am. J. Hum. Genet. (1998)
- Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). den Hollander, A.I., ten Brink, J.B., de Kok, Y.J., van Soest, S., van den Born, L.I., van Driel, M.A., van de Pol, D.J., Payne, A.M., Bhattacharya, S.S., Kellner, U., Hoyng, C.B., Westerveld, A., Brunner, H.G., Bleeker-Wagemakers, E.M., Deutman, A.F., Heckenlively, J.R., Cremers, F.P., Bergen, A.A. Nat. Genet. (1999)
- A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27. Gieser, L., Fujita, R., Göring, H.H., Ott, J., Hoffman, D.R., Cideciyan, A.V., Birch, D.G., Jacobson, S.G., Swaroop, A. Am. J. Hum. Genet. (1998)
- Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Zernant, J., Külm, M., Dharmaraj, S., den Hollander, A.I., Perrault, I., Preising, M.N., Lorenz, B., Kaplan, J., Cremers, F.P., Maumenee, I., Koenekoop, R.K., Allikmets, R. Invest. Ophthalmol. Vis. Sci. (2005)
- Prenatal diagnosis of X-linked retinitis pigmentosa (RP) in five pregnancies at risk. Iampieri, M.P., Mingarelli, R., Le Guern, E., Novelli, G., Dallapiccola, B. Prenat. Diagn. (1994)
- A retrospective study of registered retinitis pigmentosa patients in The Netherlands. van den Born, L.I., Bergen, A.A., Bleeker-Wagemakers, E.M. Ophthalmic paediatrics and genetics. (1992)
- X-linked retinitis pigmentosa: functional phenotype of an RP2 genotype. Jacobson, S.G., Roman, A.J., Cideciyan, A.V., Robey, M.G., Iwata, T., Inana, G. Invest. Ophthalmol. Vis. Sci. (1992)
- Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis. Musarella, M.A., Anson-Cartwright, C.L., McDowell, C., Burghes, A.H., Coulson, S.E., Worton, R.G., Rommens, J.M. Genomics (1991)