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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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

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.[1]

References

  1. A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa. Meindl, A., Carvalho, M.R., Herrmann, K., Lorenz, B., Achatz, H., Lorenz, B., Apfelstedt-Sylla, E., Wittwer, B., Ross, M., Meitinger, T. Hum. Mol. Genet. (1995) [Pubmed]
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