title: A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa.
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 transcript 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 selections 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.
authors.affiliation: Abteilung Padiatrische Genetik, Kinderpoliklik der Ludwig-Maximilians- Unversitat Munchen.
authors.forename: A
authors.initials: A
authors.lastname: Meindl
authors.forename: M R
authors.initials: MR
authors.lastname: Carvalho
authors.forename: K
authors.initials: K
authors.lastname: Herrmann
authors.forename: B
authors.initials: B
authors.lastname: Lorenz
authors.forename: H
authors.initials: H
authors.lastname: Achatz
authors.forename: B
authors.initials: B
authors.lastname: Lorenz
authors.forename: E
authors.initials: E
authors.lastname: Apfelstedt-Sylla
authors.forename: B
authors.initials: B
authors.lastname: Wittwer
authors.forename: M
authors.initials: M
authors.lastname: Ross
authors.forename: T
authors.initials: T
authors.lastname: Meitinger
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002417:Cattle; D003001:Cloning, Molecular; D018076:DNA, Complementary; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D051381:Rats; D015183:Restriction Mapping; D012160:Retina / Q000378:metabolism; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014960:X Chromosome
chemical_list: D018076:DNA, Complementary; D008565:Membrane Proteins; C486297:SRPX protein, human; C099179:Srpx protein, rat