A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27

American Journal of Human Genetics

Volumn 63, Issue 5, 1998, Pages 1439-1447

  Gieser, Linn ^a   Fujita, Ricardo ^a,g   Göring, Harald H H ^c   Ott, Jurg ^d   Hoffman, Dennis R ^e   Cideciyan, Artur V ^f   Birch, David G ^e   Jacobson, Samuel G ^f   Swaroop, Anand ^a,b  

^a UNIVERSITY OF MICHIGAN   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c Och Spine at New York Presbyterian Hospitals   (United States)

^d ROCKEFELLER UNIVERSITY   (United States)

^e RETINA FOUNDATION OF THE SOUTHWEST   (United States)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

^g UNIVERSIDAD DE SAN MARTÍN DE PORRES   (Peru)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; CHROMOSOME XQ; FEMALE; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; HUMAN; MALE; PHOTORECEPTOR; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

EID: 0032231868     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302121     Document Type: Article

References (34)

1. Aldred MA, Jay M, Wright AF (1994a) X-linked retinitis pigmentosa. In: Wright AF, Jay B (eds) Molecular genetics of inherited eye disorders. Harwood Academic Publishers, Chur, Switzerland, pp 259-276
2. Aldred MA, league PW, Jay M, Bundey S, Redmond RM, Jay B, Bird AC, et al (1994b) Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci. J Med Genet 31:848-852
3. Becker A, Geiger D, Schaffer AA (1998) Automatic selection of loop breakers for genetic linkage analysis. Hum Hered 48:49-60
4. Bergen AAB, Pinckers AJLG (1997) Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity. Am J Hum Genet 60:1468-1473
5. Berson EL, Rosen JB, Simonoff EA (1979) Electroretinographic testing as an aid in detection of carriers of X-chromosome-linked retinitis pigmentosa. Am J Ophthalmol 87:460-468
6. Bhattacharya SS, Wright AF, Clayton JF, Price WH, Phillips CI, McKeown CME, Jay M, et al (1984) Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature 309:253-255
7. Birch DG, Fish GE (1987) Rod ERGs in retinitis pigmentosa and cone-rod degeneration. Invest Ophthalmol Vis Sci 28:140-150
8. Buraczynska M, Wu W, Fujita R, Buraczynska K, Phelps E, Andreasson S, Bennett J, et al (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
9. Chen YT, Rettig WJ, Yenamandra AK, Kozak CA, Chaganti RSK, Posner JB, Old LJ (1990) Cerebellar degeneration-related antigen: a highly conserved neuroectodermal marker mapped to chromosomes X in human and mouse. Proc Natl Acad Sci USA 87:3077-3081
10. Cideciyan AV, Hood DC, Huang Y, Banin E, Li Z-Y, Stone EM, Milam AH, et al (1998) Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. Proc Natl Acad Sci USA 95:7103-7108
11. Cideciyan AV, Jacobson SG (1993) Negative electroretinograms in retinitis pigmentosa. Invest Ophthalmol Vis Sci 34:3253-3263
12. _ (1996) An alternative phototransduction model for human rod and cone ERG a-waves: normal parameters and variation with age. Vision Res 36:2609-2621
13. Fishman GA, Farber MD, McMahon TT (1986) X-linked retinitis pigmentosa: clinical characteristics of carriers. Arch Ophthalmol 104:1329-1335.
14. Fujita R, Buraczynska M, Gieser L, Wu W, Forsythe P, Abrahamson M, Jacobson SG, 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 61:571-580
15. Fujita R, Swaroop A (1996) RPGR: part one of the X-linked retinitis pigmentosa story. Mol Vis 2:4, http://www. molvis.org/molvis/v2/fujita
16. Heckenlively JR (1988) Retinitis pigmentosa. Lippincott, Philadelphia
17. Hood DC, Birch DG (1993) Light adaptation of human receptors: the leading edge of the human a-wave and models of receptor activity. Vision Res 33:1605-1618
18. _ (1995) Phototransduction in human cones measured using the a-wave of the ERG. Vision Res 35:2801-2810
19. _ (1997) Assessing abnormal rod photoreceptor activity with the a-wave of the electroretinogram: applications and methods. Doc Ophthalmol 92:253-267
20. Jacobson SG, Apathy PP, Parel JM (1991) Rod and cone perimetry: computerized testing and analysis. In: Heckenlively J, Arden G (eds) Handbook of clinical vision testing. Mosby Year Book, St Louis, pp 475-482
21. Jacobson SG, Buraczynska M, Milam AH, Chen C, Jarvalainen M, Fujita R, Wu W, et al (1997) Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene. Invest Ophthalmol Vis Sci 38:1983-1997
22. Jacobson SG, Yagasaki K, Feuer WJ, Roman A (1989) Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa. Exp Eye Res 48:679-691
23. Lathrop GM, Lalouel J-M, Julier C, Ott J (1984) Strategies for multilocus analysis in humans. Proc Natl Acad Sci USA 81:3443-3446
24. Li Z-Y, Wong F, Chang JH, Possin DE, Hao Y, Fetters RM, Milam AH (1998) Rhodopsin transgenic pigs as a model for human retinitis pigmentosa. Invest Ophthalmol Vis Sci 39:808-819
25. McGuire RE, Sullivan LS, Blanton SH, Church MW, Heckenlively JR, Daiger SP (1995) 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 57:87-94
26. Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A, Carvalho MRS, 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 13:35-42
27. Musarella MA, Anson-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
28. Ott J, Bhattacharya SS, Chen JD, Denton MJ, Donald J, Dubay C, Farrar GJ, et al (1990) Localizing multiple X-chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci USA 87:701-704
29. Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJLG, Bleeker-Wagemakers LM, Bergen AAB, Post J, et al (1996) Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange fac- tor RCC1. Hum Mol Genet 5:1035-1041
30. Roof DJ, Adamian M, Hayes A (1994) Rhodopsin accumulation at abnormal sites in retinas of mice with a human P23H rhodopsin transgene. Invest Ophthalmol Vis Sci 35:4049-4062
31. Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, Kirschner R, et al (1998) Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet 19: 327-332
32. Teague PW, Aldred MA, Jay M, Dempster M, Harrison C, Carothers AD, Hardwick LJ, et al (1994) Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. Am J Hum Genet 55:105-111
33. Terwilliger JD, Ott J (1994) Handbook of human genetic linkage. Johns Hopkins University Press, Baltimore
34. Thiselton DL, Hampson RM, Nayudu M, Maldergem LV, Wolf ML, Saha BK, Bhattacharya SS, et al (1996) 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 6:1093-1102