MEINDL, A and CARVALHO, MRS and HERRMANN, K and LORENZ, B and ACHATZ, H and LORENZ, B and APFELSTEDTSYLLA, E and WITTWER, B and ROSS, M and MEITINGER, T (1995) A GENE (SRPX) ENCODING A SUSHI-REPEAT-CONTAINING PROTEIN IS DELETED IN PATIENTS WITH X-LINKED RETINITIS-PIGMENTOSA. HUMAN MOLECULAR GENETICS, 4 (12). pp. 2339-2346. ISSN 0964-6906, 1460-2083
Full text not available from this repository.Abstract
X-linked retinitis pigmentosa (XLRP) is characterized by retinal degeneration with night blindness and progressive reduction of the visual fields. By linkage and deletion analysis a gene locus (RP3) has been mapped-to the short arm of the X chromosome between the genes CYBB and OTC. Analysis of transcripts in this region has revealed a gene which is abundantly expressed in human retina and encodes a putative membrane protein with significant homologies to short consensus repeat (SCR/sushi) domains known from selectins and complement proteins. The gene, termed SRPX (sushi-repeat-containing protein, X chromosome) is deleted in an RP patient who also suffers from chronic granulomatous disease and McLeod syndrome. A 75 kb deletion removing exon 1 of the gene was also found in two brothers of a second XLRP family. However, no further functionally significant mutations were detected by SSCP screening of ail 10 exons in 34 unrelated XLRP patients nor by full length RT-PCR sequencing in two RP3 families. The role of this highly conserved retinal gene in the pathogenesis of RP therefore remains to be determined.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | LINKAGE ANALYSIS; ONE FORM; MUTATIONS; EXPRESSION; SEQUENCES; CLONING; DNA; LOCUS; CHAIN; XP21; |
| Depositing User: | Dr. Gernot Deinzer |
| Last Modified: | 19 Oct 2022 08:37 |
| URI: | https://pred.uni-regensburg.de/id/eprint/52181 |
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