Meindl, A and Dry, K and Herrmann, K and Manson, F and Ciccodicola, A and Edgar, A and Carvalho, MRS and Achatz, H and Hellebrand, H and Lennon, A and Migliaccio, C and Porter, K and Zrenner, E and Bird, A and Jay, M and Lorenz, B and Wittwer, B and DUrso, M and Meitinger, T and 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 (1). pp. 35-42. ISSN 1061-4036, 1546-1718
Full text not available from this repository.Abstract
X-linked retinitis pigmentosa (xlRP) is a severe progressive retinal degeneration which affects about 1 in 25,000 of the population. The most common form of xlRP, RP3, has been localised to the interval between CYBB and OTC in Xp21.1 by linkage analysis and deletion mapping. Identification of microdeletions within this region has now led to the positional cloning of a gene, RPGR, thai spans 60 kb of genomic DNA and is ubiquitously expressed. The predicted 90 kD protein contains in its N-terminal half a tandem repeat structure highly similar to RCC1 (regulator of chromosome condensation), suggesting an interaction with a small GTPase. The C-terminal half contains a domain, rich in acidic residues, and ends in a potential isoprenylation anchorage site. The two intragenic deletions, two nonsense and three missense mutations within conserved domains provide evidence that RPGR (retinitis pigmentosa GTPase regulator) is the RP3 gene.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | CHROMOSOME CONDENSATION; CELL-CYCLE; DNA; SEQUENCE; LINKAGE; HETEROGENEITY; REPLICATION; EXPRESSION; REGULATOR; DISEASE; |
| Depositing User: | Dr. Gernot Deinzer |
| Last Modified: | 19 Oct 2022 08:35 |
| URI: | https://pred.uni-regensburg.de/id/eprint/51751 |
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