Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein

Human Molecular Genetics

Volumn 10, Issue 11, 2001, Pages 1177-1183

  Schwahn, Uwe ^a   Paland, Nicole ^a   Techritz, Sandra ^a   Lenzner, Steffen ^a   Berger, Wolfgang ^a  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CHAPERONE; COFACTOR C; GENE PRODUCT; GREEN FLUORESCENT PROTEIN; MESSENGER RNA; PROTEIN; PROTEIN ANTIBODY; RP 2 PROTEIN; TUBULIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; AMINO TERMINAL SEQUENCE; ANIMAL CELL; ARTICLE; BLINDNESS; CARBOXY TERMINAL SEQUENCE; CELL IMMORTALIZATION; CELL LINE; CELL MEMBRANE; CENTRIFUGATION; CONTROLLED STUDY; CYTOPLASM; DATA BASE; DISEASE SEVERITY; EXTRACT; FLUORESCENCE MICROSCOPY; GENE MUTATION; GENETIC CODE; GENETIC CONSERVATION; HELA CELL; HUMAN; HUMAN CELL; MISSENSE MUTATION; NONHUMAN; PATHOGENICITY; PHOTORECEPTOR CELL; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEPLETION; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RETINA DEGENERATION; RETINITIS PIGMENTOSA; SEQUENCE HOMOLOGY; VELOCITY; VISUAL ACUITY; VISUAL IMPAIRMENT; X CHROMOSOME LINKAGE;

AMINO ACID SEQUENCE; BLOTTING, NORTHERN; BLOTTING, WESTERN; CELL MEMBRANE; EYE PROTEINS; FLUORESCENT ANTIBODY TECHNIQUE; GENETIC VECTORS; GREEN FLUORESCENT PROTEINS; HELA CELLS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LINKAGE (GENETICS); LUMINESCENT PROTEINS; MEMBRANE PROTEINS; MICROSCOPY, CONFOCAL; MOLECULAR SEQUENCE DATA; MUTATION; PROTEINS; RECOMBINANT FUSION PROTEINS; RETINITIS PIGMENTOSA; SEQUENCE HOMOLOGY, AMINO ACID; TRANSFECTION; X CHROMOSOME;

ANIMALIA;

EID: 0035872885     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.11.1177     Document Type: Article

References (32)

1. Boughman, J.A., Conneally, P.M. and Nance, W.E. (1980) Population genetic studies of retinitis pigmentosa. Am. J. Hum. Genet., 32, 223-235.
2. Dryja, T.P., McGee, T.L., Reichel, E., Hahn, L.B., Cowley, G.S., Yandell, D.W., Sandberg, M.A. and Berson, E.L. (1990) A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature, 343, 364-366.
3. Farrar, G.J., Kenna, P., Jordan, S.A., Kumar-Singh, R., Humphries, M.M., Sharp, E.M., Sheils, D.M. and Humphries, P. (1991) A three-base-pair deletion in the peripherin-rds gene in one form of retinitis pigmentosa. Nature, 354, 478-480.
4. McLaughlin, M.E., Sandberg, M.A., Berson, E.L. and Dryja, T.P. (1993) Recessive mutations in the gene encoding the b-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat. Genet., 4, 130-134.
5. Kajiwara, K., Berson, E.L. and Dryja, T.P. (1994) Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/rds and ROM1 loci. Science, 264, 1604-1608.
6. Huang, S.H., Pittler, S.J., Huang, X.H., Oliveira, L., Berson, E.L. and Dryja, T.P. (1995) Autosomal recessive retinitis pigmentosa caused by mutations in the a subunit of rod cGMP phosphodiesterase. Nat. Genet., 11, 468-471.
7. Jay, M. (1982) On the heredity of retinitis pigmentosa. Br. J. Ophthalmol., 66, 405-416.
8. Greenberg, J., Bartmann, L., Ramesar, R. and Beighton, P. (1993) Retinitis pigmentosa in Southern Africa. Clin. Genet., 44, 232-235.
9. Haim, M. (1993) Retinitis pigmentosa: problems associated with genetic classification. Clin. Genet., 44, 62-70.
10. Meindl, A., Dry, K., Herrmann, K., Manson, F., Ciccodicola, A., Edgar, A., Carvalho, M.R.S., Achatz, H., Hellebrand, H., Lennon, A. 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, 36-42.
11. Roepman, R., Bauer, D., Rosenberg, T., van Duijnhoven, G., van de Vosse, E., Platzer, M., Rosenthal, A., Ropers, H.-H., Cremers, F.P.M. and Berger, W. (1996) Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP). Hum. Mol. Genet., 5, 827-833.
12. Roepman, R., Duijnhoven, G.v., Rosenberg, T., Pinckers, A.J.L.G., Bleeker-Wagemakers, L.M., Bergen, A.A.B., Post, J., Beck, A., Reinhardt, R., Ropers, H.-H. et al. (1996) Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guaninenucleotide-exchange factor RCC1. Hum. Mol. Genet., 5, 1035-1041.
13. Schwahn, U., Lenzner, S., Dong, J., Feil, S., Hinzmann, B., Duijnhoven, G.v., Kirschner, R., Hemberger, M., Bergen, A.A.B., Rosenberg, T. et al. (1998) Positional cloning of the gene for retinitis pigmentosa 2. Nat. Genet., 19, 327-332.
14. Bischof, F.R. and Ponstingl, H. (1991) Mitotic regulator protein RCC1 is complexed with a nuclear ras-related polypeptide. Proc. Natl Acad. Sci. USA, 88, 10830-10834.
15. Seki, T., Hayashi, N. and Nishimoto, T. (1996) RCC1 in the Ran pathway. J. Biochem., 120, 207-214.
16. Tian, G., Bhamidipati, A., Cowan, N.J. and Lewis, S.A. (1999) Tubulin folding cofactors as GTPase-activating proteins. GTP hydrolysis and the assembly of the alpha/beta-tubulin heterodimer. J. Biol. Chem., 274, 24054-24058.
17. Cowan, N.J. and Lewis, S.A. (1999) A chaperone with a hydrophilic surface. Nat. Struct. Biol., 6, 990-991.
18. Hardcastle, A.J., Thiselton, D.L., Maldergem, L.V., Saha, B.K., Jay, M., Plant, C., Taylor, R., Bird, A.C. and Bhattacharya, S. (1999) Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. Am. J. Hum. Genet., 64, 1210-1215.
19. Mears, A.J., Gieser, L., Yan, D., Chen, C., Fahrner, S., Hiriyanna, S., Fujita, R., Jacobson, S.G., Sieving, P.A. and Swaroop, A. (1999) Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. Am. J. Hum. Genet., 64, 897-900.
20. Wada, Y., Nakazawa, M., Abe, T. and Tamai, M. (2000) A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci., 41, 290-293.
21. Sharon, D., Bruns, G.A.P., McGee, T.L., Sandberg, M.A., Berson E.L. and Dryja, T.P. (2000) X-linked retinitis pigmentosa: mutation spectrum of RPGR and RP2 genes and correlation with visual function. Invest. Ophthalmol. Vis. Sci., 41, 2712-2721.
22. Thiselton, D.L., Zito, I., Plant, C., Jay, M., Hodgson, S.V., Bird, A.C., Bhattacharya, S.S. and Hardcastle, A.J. (2000) Novel frameshift mutations in the RP2 gene and polymorphic variants. Hum. Mutat., 15, 580.
23. Rosenberg, T., Schwahn, U., Feil, S. and Berger, W. (1999) Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2). Ophthalmic. Genet., 20, 161-172.
24. Chapple, J.P., Hardcastle, A.J., Grayson, C., Spackman, L.A., Willison, K.R. and Cheetham, A.E. (2000) Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane. Hum. Mol. Genet., 9, 1919-1926.
25. Resh, M.D. (1999) Fatty acylation of proteins: new insights into membrane targeting of myristoylated and palmitoylated proteins. Biochim. Biophys. Acta, 1451, 1-16.
26. Moyer, B.D., Loffing, J., Schwiebert, E.M., Loffing-Cueni, D., Halpin, P.A., Karlson, K.H., Ismailov, I.I., Guggino, W.B., Langford, G.M. and Stanton, B.A. (1998) Membrane trafficking of the cystic fibrosis gene product, cystic fibrosis transmembrane conductance regulator, tagged with green fluorescent protein in madin-darby canine kidney cells. J. Biol. Chem., 273, 21759-21768.
27. Scheffzek, K., Ahmadian, M.R. and Wittinghofer, A. (1998) GTPase-activating proteins: helping hands to complement an active site. Trends Biochem. Sci., 23, 257-262.
28. Thomas, P.J., Qu, B.H. and Pedersen, P.L. (1995) Defective protein folding as a basis of human disease. Trends Biochem. Sci., 20, 456-459.
29. Frischmeyer, P.A. and Dietz, H.C. (1999) Nonsense-mediated mRNA decay in health and disease. Hum. Mol. Genet., 8, 1893-1900.
30. Hentze, M.W. and Kulozik, A.E. (1999) A perfect message: RNA surveillance and nonsense-mediated decay. Cell, 96, 307-310.
31. Bairoch, A. and Apweiler, R. (2000) The SWISS-PROT protein sequence database and its supplement TrEMBL in 2000. Nucleic Acids Res., 28, 45-48.
32. Altschul, S.F., Gish, W., Miller, W., Myers, E.W. and Lipman, D.J. (1990) Basic local alignment search tool. J. Mol. Biol., 215, 403-410.