Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study [2]

American Journal of Human Genetics

Volumn 64, Issue 4, 1999, Pages 1210-1215

  Hardcastle, A J ^a   Thiselton, D L ^a   Van Maldergem, L ^a   Saha, B K ^a   Jay, M ^a   Plant, C ^a   Taylor, R ^a   Bird, A C ^a   Bhattacharya, S ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMINO ACID SEQUENCE; CONTROLLED STUDY; ELECTROPHORESIS; FAMILIAL DISEASE; HUMAN; LETTER; MAJOR CLINICAL STUDY; MALE; NIGHT BLINDNESS; PEDIGREE; PRIORITY JOURNAL; RETINA DEGENERATION; RETINITIS PIGMENTOSA; SEGREGATION ANALYSIS; SEX DIFFERENCE; VISUAL FIELD DEFECT; X CHROMOSOMAL INHERITANCE;

EID: 0033361920     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302325     Document Type: Letter

References (15)

1. SS Bhattacharya AF Wright JF Clayton WH Price CI Phillips CM McKeown M Jay Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28 Nature 309 1984 253 255
2. AC Bird X-linked retinitis pigmentosa Br J Ophthalmol 59 1975 177 199
3. M Buraczynska W Wu R Fujita K Buraczynska E Phelps S Andreasson J Bennett Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa Am J Hum Genet 61 1997 1287 1292
4. AJ Hardcastle ZK David-Gray M Jay AC Bird SS Bhattacharya Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp Invest Ophthalmol Vis Sci 38 1997 a 2750 2755
5. AJ Hardcastle DL Thiselton M Nayudu RM Hampson SS Bhattacharya Genomic organization of the human TIMP-1 gene: investigation of a causative role in the pathogenesis of X-linked retinitis pigmentosa 2 Invest Ophthalmol Vis Sci 38 1997 b 1893 1896
6. RE McGuire LS Sullivan SH Blanton MW Church JR Heckenlively SP Daiger X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11 Am J Hum Genet 57 1995 87 94
7. A Meindl K Dry K Herrmann F Manson A Ciccodicola A Edgar MR Carvalho A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3) Nat Genet 13 1996 35 42
8. M Orita H Iwahara H Kanazawa K Hayashi T Sekiya Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms Proc Natl Acad Sci USA 86 1989 2766 2770
9. J Ott S Bhattacharya JD Chen MJ Denton J Donald C Dubay GJ Farrar Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests Proc Natl Acad Sci USA 87 1990 701 704
10. R Roepman G van Duijnhoven T Rosenberg AJLG Pinckers LM Bleeker-Wagemakers AAB Bergen J Post Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1 Hum Mol Genet 5 1996 1035 1041
11. U Schwahn S Lenzner J Dong S Feil B Hinzmann G van Duijnhoven R Kirschner Positional cloning of the gene for X-linked retinitis pigmentosa 2 Nat Genet 19 1998 327 332
12. PW Teague MA Aldred M Jay M Dempster C Harrison AD Carothers LJ Hardwick Heterogeneity analysis in 40 X-linked retinitis pigmentosa families Am J Hum Genet 55 1994 105 111
13. DL Thiselton RM Hampson M Nayudu L Van Maldergem ML Wolf BK Saha SS Bhattacharya Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping Genome Res 6 1996 1093 1102
14. G Tian Y Huang H Rommelaere J Vandekerckhove C Ampe NJ Cowan Pathway leading to correctly folded beta-tubulin Cell 86 1996 287 296
15. G Tian SA Lewis B Feierbach T Stearns H Rommelaere C Ampe NJ Cowan Tubulin subunits exist in an activated conformational state generated and maintained by protein cofactors J Cell Biol 138 1997 821 832