RCC1-like domain and ORF15: Essentials in RPGR gene

Advances in Experimental Medicine and Biology

Volumn 572, Issue , 2005, Pages 29-33

  Jin, Zi Bing ^a   Hayakawa, Mutsuko ^b   Murakami, Akira ^b   Nao I, Nobuhisa ^a  

^a UNIVERSITY OF MIYAZAKI   (Japan)

^b JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELES; BASE SEQUENCE; CELL CYCLE PROTEINS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; GENETIC LINKAGE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; LINKAGE (GENETICS); MALE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; OPEN READING FRAMES; PROTEIN STRUCTURE, TERTIARY; RETINA; RETINITIS PIGMENTOSA;

EID: 33747440054     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Conference Paper

References (28)

1. Fishman GA, 1978, Retinitis pigmentosa. Genetic percentages. Arch Ophthalmol, 96:1185-1188.
2. Boughman JA, Conneally PM, Nance WE, 1980, Population genetic studies of retinitis pigmentosa. Am J Hum Genet, 32:223-235.
3. Jay M, 1982, Figures and fantasies: the frequencies of the different genetic forms of retinitis pigmentosa. Birth Defects Orig Artic Ser, 18:167-173.
4. Bunker CH, Berson EL, Bromley WC, Hayes RP, Roderick TH, 1984, Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol, 97:357-365.
5. Musarella MA, nson-Cartwright L, Leal SM, Gilbert LD, Worton RG, Fishman GA, Ott J, 1990, Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families. Genomics, 8:286-296.
6. Ott J, Bhattacharya S, Chen JD, Denton MJ, Donald J, Dubay C, Farrar GJ, Fishman GA, Frey D, Gal A, 1990, Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci USA, 87:701-704.
7. Teague PW, Aldred MA, Jay M, Dempster M, Harrison C, Carothers AD, Hardwick LJ, Evans HJ, Strain L, Brock DJ, 1994, Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. Am J Hum Genet, 55:105-111.
8. Bergen AA, Van den Born LI, Schuurman EJ, Pinckers AJ, Van Ommen GJ, Bleekers-Wagemakers EM, Sandkuijl LA, 1995, Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families. Ophthalmic Genet, 16:63-70.
9. Fujita R, Buraczynska M, Gieser L, Wu W, Forsythe P, Abrahamson M, Jacobson SG, Sieving PA, Andreasson S, Swaroop A, 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, 61:571-580.
10. 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, 1996, A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nature Genetics, 13:35-42.
11. Roepman R, Bauer D, Rosenberg T, van Duijnhoven G, van de Vosse E, Platzer M, Rosenthal A, Ropers H, Cremers F, 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. Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van DG, Kirschner R, Hemberger M, Bergen AA, Rosenberg T, Pinckers AJ, Fundele R, Rosenthal A, Cremers FP, Ropers HH, Berger W, 1998, Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet, 19:327-332.
13. Vervoort R, Lennon A, Bird AC, Tulloch B, Axton R, Miano MG, Meindl A, Meitinger T, Ciccodicola A, Wright AF, 2000, Mutational hot spot within a new RPGR exon in X-linked retinitis, pigmentosa. Nature Genetics, 25:462-466.
14. Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffinan DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A, 2002, A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa. Am J Hum Genet, 70:1545-1554.
15. Gorlich D, Mattaj IW, 1996, Nucleocytoplasmic Transport. Science, 271:1513-1519.
16. Linari M, Ueffing M, Manson F, Wright A, Meitinger T, Becker J, 1999, The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. PNAS, 96:1315-1320.
17. Hong D-H, Yue G, Adamian M, Li T, 2001, Retinitis Pigmentosa GTPase Regulator (RPGR)-interacting Protein Is Stably Associated with the Photoreceptor Ciliary Axoneme and Anchors RPGR to the Connecting Cilium. J Biol Chem, 276:12091-12099.
18. Boylan JP, Wright AF, 2000, Identification of a novel protein interacting with RPGR. Hum Mol Genet, 9:2085-2093.
19. Musarella MA, nson-Cartwright L, Leal SM, Gilbert LD, Worton RG, Fishman GA, Ott J, 1990, Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families. Genomics, 8:286-296.
20. Ott J, Bhattacharya S, Chen JD, Denton MJ, Donald J, Dubay C, Farrar GJ, Fishman GA, Frey D, Gal A, 1990, Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci USA, 87:701-704.
21. Teague PW, Aldred MA, Jay M, Dempster M, Harrison C, Carothers AD, Hardwick LJ, Evans HJ, Strain L, Brock DJ, 1994, Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. Am J Hum Genet, 55:105-111.
22. Bergen AA, Van den Born LI, Schuurman EJ, Pinckers AJ, Van Ommen GJ, Bleekers-Wagemakers EM, Sandkuijl LA, 1995, Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families. Ophthalmic Genet, 16:63-70.
23. Fujita R, Buraczynska M, Gieser L, Wu W, Forsythe P, Abrahamson M, Jacobson SG, Sieving PA, Andreasson S, Swaroop A, 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, 61:571-580.
24. Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL, 2003, RP2 and RPGR Mutations and Clinical Correlations in Patients with X-Linked Retinitis Pigmentosa. American Journal of Human Genetics, 73:1131-1146.
25. Hong D-H, Pawlyk BS, Shang J, Sandberg MA, Berson EL, Li T, 2000, A retinitis pigmentosa GTPase regulator (RPGR)- deficient mouse model for X-linked retinitis pigmentosa (RP3). PNAS, 97:3649-3654.
26. Buraczynska M, WWFRBKPEASBJBDFGHDIGJSMMSPSA, 1997, Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. Am J Hum Genet, 61:1287-1292.
27. Andreasson S, PVAMEBWWFRBMSA, 1997, Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene. Am J Ophthalmol, 124:95-102.
28. Kirschner R, Rosenberg T, Schultz-Heienbrok R, Lenzner S, Feil S, Roepman R, Cremers F, Ropers H, Berger W, 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, 8:1571-1578.