X - arrestin is a newly isolated human retinal arrestin mapping to X -chromosome. X - arrestin is enriched in retina and its sequence is homologous to Arrestin (S - Ag) and β- arrestin. The role of S - Ag is thought to quench the activated phototransduction cascade by binding to phosphorylated rhodopsin. Recently, 1 - bp deletion of the arrestin gene was found in some patients with Oguchi disease. Otherwise, our immunohistochemical study by using anti - peptide antibody to human X - arrestin showed that X - arrestin is expressed intensely in cone photoreceptors in human retina. Although the precise function of X - arrestin is unknown, these results suggest that X - arrestin might be a cause of retinal dysfunction and it may be useful as a candidate gene for X - linked retinal diseases. To obtain information of gene structure, X - arrestin genes were isolated by screening human genome libraries using cDNA as a probe and analyzed by sequencing. The X - arrestin gene has 17 exons and is approx. 20 kbp long. Its structure has similarity to S - Ag already reported. 96 X - linked retinal disease patients were screened for mutation by PCR - DGGE analysis. Some types of mobility shift were observed, but no exon mutation was found except silent mutation at exon 3 and polymorphism at exon 12. Further analysis of X-arrestin gene will contribute for better understanding of cone photoreceptor visual transduction system.
|Original language||English (US)|
|Number of pages||1|
|Journal||Japanese Journal of Human Genetics|
|State||Published - Dec 1 1997|
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