UHX1 and PCTK1: Precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1-p11.2

European Journal of Human Genetics

Volumn 6, Issue 5, 1998, Pages 459-466

  Brandau, Oliver ^a   Nyakatura, Gerald ^b   Jedele, Kerry B ^a   Platzer, Matthias ^b   Achatz, Helene ^a   Ross, Mark ^c   Murken, Jan ^a   Rosenthal, Andre ^b   Meindl, Alfons ^a,d  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b FRITZ LIPMANN INSTITUTE   (Germany)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d Abteilung Medizinische Genetik   (Germany)

Author keywords

Mental retardation; PCTK1; Retinal disease; UHX1

Indexed keywords

HYDROLASE; UBIQUITIN;

ARTICLE; CHROMOSOME XP; GENE LOCATION; GENE MUTATION; GENE STRUCTURE; HUMAN; MENTAL DEFICIENCY; NIGHT BLINDNESS; PRIORITY JOURNAL; RETINA DISEASE; RETINITIS PIGMENTOSA; X CHROMOSOME LINKAGE;

EID: 0031734594     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200207     Document Type: Article

References (27)

1. Swanson DA, Freund CL, Ploder L, Mclnnes RR, Valle D: A ubiquitin C-terminal hydrolase gene on the proximal short arm of the X chromosome: implications for X-linked retinal disorders. Hum Mol Genet 1996; 5: 533-538.
2. Okuda T, Valentine VA, Shapiro DN, Downing JR: Cloning of genomic loci and chromosomal localization of the human PCTAIRE-1 and -3 protein kinase genes. Genomics 1994; 21: 217-221.
3. Carrel L, Clemson CM, Dunn JM et al: X inactivation analysis and DNA methylation studies of the ubiquitin activating enzyme El and PCTAIRE-1 genes in human and mouse. Hum Mol Genet 1996; 5: 391-401.
4. Musarella MA, Weleber RG, Murphey WH et al: Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to chromosome Xp11.3. Genomics 1989; 5: 727-737.
5. Aldred MA, Dry KL, Sharp DM et al: Linkage analysis in X-linked congenital stationary night blindness. Genomics 1992; 14: 99-104.
6. Bech-Hansen NT, Moore BJ, Pearce WG: Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7. Genomics 1992; 12: 409-411.
7. Dry KL, Van LL, Aldred MA, Brown J, Hardwick JJ, Wright AF: Linkage analysis in a family with complete type congenital stationary night blindness with and without myopia. Clin Genet 1993; 43: 250-254.
8. Coleman M, Bhattacharya S, Lindsay S et al: Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa. Am J Hum Genet 1990; 47: 935-940.
9. Wright AF, Bhattacharya SS, Aldred MA et al: Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred. J Med Genet 1991; 28: 453-457.
10. Musarella MA, Anson-Cartwright L, Leal SM et al: Multipoint linkage analysis and heterogeneity testing in twenty X-linked retinitis pigmentosa families. Genomics 1990; 8: 286-296.
11. Dahl N, Sundvall M, Pettersson U et al: Genetic mapping for loci of X linked retinitis pigmentosa. Clin Genet 1991; 40: 435-440.
12. Meire FM, Bergen AAB, De Rouck A, Leys M, Delleman JW: X-linked progressive cone dystrophy: localisation of the gene locus to Xp21-p11.1 by linkage analysis. Br J Ophthalmol 1994; 78: 103-108.
13. Rosenfeld PJ, McKusick VA, Amberger JS, Dryja TP: Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous. J Med Genet 1994; 31: 903-915.
14. Hegde AN, Inokuchi K, Pei W et al: Ubiquitin C-terminal hydrolase is an immediate-early gene essential for long-term facilitation in Aplysia. Cell 1997; 89: 115-126.
15. Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G: XLMR genes: update 1996. Am J Med Genet 1996; 64: 147-157.
16. Aldred MA, Dry KL, Knight-Jones EB et al: Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa. Am J Hum Genet 1994; 55: 916-922.
17. Derry JMD, Jess U, Francke U: Cloning and characterization of a novel zinc finger gene in Xp11.2. Genomics 1995; 30: 361-365.
18. Zehetner G, Lehrach H: The Reference Library system - sharing biological material and experimental data. Nature 1994; 367: 489-491.
19. Berger W, Meindl A, de Leeuw B et al: Generation and characterization of radiation induced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome. Hum Genet 1992; 90: 243-246.
20. Dib C, Faure S, Fizames C et al: A comprehensive genetic map of the human genome based on 5.264 microsatellites. Nature 1996; 380: 152-154.
21. Dear S, Staden R: A sequence assembly and editing program for efficient management of large projects. Nucleic Acids Res 1991; 19: 3907-3911.
22. Hayashi K: PCR-SSCP: a simple and sensitive method for detection of mutations in the genomic DNA. PCR Methods Appl 1991; 1: 34-38.
23. Meindl A, Dry KL, Herrmann K et al: A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nature Genet 1996; 13: 35-42.
24. Coleman MP, Ambrose HJ, Carrel L, Nemeth AH, Willard HF, Davies KE: A novel gene, DXS8237E, lies within 20kb upstream of UBE1 in Xp11.23 and has a different X inactivation status. Genomics 1996; 31: 135-138.
25. Thiselton DL, Hampson RM, Nayudu M et al: 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 Research 1996; 6: 1093-1112.
26. Coleman MP, Nemeth AH, Campbell L, Raut CP, Weissenbach J, Davies KE: A 1.8Mb YAC contig in Xp11.23: Identification of CpG islands and physical mapping of CA repeats in a region of high gene density. Genomics 1994; 21: 337-343.
27. Schindelhauer D, Hellebrand H, Grimm L et al: Long range map of a 3.5-Mb region in Xp11.23 with a sequence ready map from a 1.1Mb gene-rich interval. Genome Research 1996; 6: 1056-1069.