A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa

Alfons Meindl, Maria Raquel S. Carvalho, Klaus Herrmann, Bettina Lorenz, Helene Achatz, Birgit Lorenz, Eckart Apfelstedt-sylla, Bärbel Wittwer, Mark Ross, Thomas Meitinger

Publikation: Beitrag in FachzeitschriftArtikelBegutachtung

48 Zitate (Scopus)

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 all 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.

OriginalspracheEnglisch
Seiten (von - bis)2339-2346
Seitenumfang8
FachzeitschriftHuman Molecular Genetics
Jahrgang4
Ausgabenummer12
DOIs
PublikationsstatusVeröffentlicht - Dez. 1995

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