TY - JOUR
T1 - A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa
AU - Meindl, Alfons
AU - Carvalho, Maria Raquel S.
AU - Herrmann, Klaus
AU - Lorenz, Bettina
AU - Achatz, Helene
AU - Lorenz, Birgit
AU - Apfelstedt-sylla, Eckart
AU - Wittwer, Bärbel
AU - Ross, Mark
AU - Meitinger, Thomas
N1 - Funding Information:
We are grateful to the families and clinicians participating in the study, J.Kaplan, B.Zabel, K.Ruther, G.Rudolph, E.Zrenner, K.Zerres, P.Bitoux, L.Zergollern, S.Kraft, A.Gal, M.Andrassi and H.Thiele. We thank H.Hellebrand for technical assistance, P.Sander for providing RNA filters and E.Holinski, C.Zapillon, P.Lichtner, B.Weber, B.Wissinger, W.Hergersberg, P.Mewes, B.Leitner for their help and contribution to this project. This work was supported in part by DRPV (Deutsche Retinitis Pigmentosa Vereinigung), DFG (Deutsche Forschungsgemeinschaft) and a fellowship to M.R.S.C. by the DAAD (Deutscher Akademischer Austauschdienst).
PY - 1995/12
Y1 - 1995/12
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/0028886728
U2 - 10.1093/hmg/4.12.2339
DO - 10.1093/hmg/4.12.2339
M3 - Article
C2 - 8634708
AN - SCOPUS:0028886728
SN - 0964-6906
VL - 4
SP - 2339
EP - 2346
JO - Human Molecular Genetics
JF - Human Molecular Genetics
IS - 12
ER -