Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse

摘要: Abstract Retinal degeneration slow (rds) is a retinal disorder of an inbred strain mice in which the outer segment photoreceptor cell fails to develop. A candidate gene has recently been described for rds defect [Travis, G. H., Brennan, M. B., Danielson, P. E., Kozak, C. & Sutcliffe, J. (1989) Nature (London) 338, 70-73]. Neither identity normal product nor its intracellular localization had determined. We report here that amino acid sequence bovine photoreceptor-cell protein peripherin, was previously localized rim region disk membrane, 92.5% identical mouse encoded by gene. The differences between two sequences can be attributed species variation. Monoclonal antibodies were used with Western blot analysis localize wild-type peripherin/rds isolated rod segments and show it, like exists as subunits linked one or more disulfide bonds. relative amounts rhodopsin extracts mutant also compared. Identification peripherin membranes will serve basis studies directed toward defining role this morphogenesis maintenance understanding mechanism mutation causes degeneration.