title: Hereditary retinal degeneration in Drosophila melanogaster. A mutant defect associated with the phototransduction process.
abstract: Two genes in Drosophila, rdgA and rdgB, which when defective cause retinal degeneration, were discovered by Hotta and Benzer (Hotta, Y., and S. Benzer. 1970. Proc. Natl, Acad. Sci. U. S, A. 67:1156-1163). These mutants have photoreceptor cells that are histologically normal upon eclosion but subsequently degenerate. The defects in the rdgA and rdgB mutants were localized by the study of genetic mosaics to the photoreceptor cells. In rdgB mutants retinal degeneration is light induced. It can be prevented by rearing the flies in the dark or by blocking the receptor potential with a no-receptor-potential mutation, norpA. Vitamin A deprivation and genetic elimination of the lysosomal enzyme acid phosphatase alsoprotect the photoreceptors of rdgB flies against light-induced damage. The photopigment kinetics of dark-reared rdgB flies appear normal in vitro by spectrophotometric measurements, and in vivo by measurements of the M potential. In normal Drosophila, a 1-s exposure to intense 470-nm light produces a prolonged depolarizing afterpotential (PDA) which can last for several hours. In dark-reared rdgB mutants the PDA lasts less than 2 min;; it appears to initiate the degeneration process, since the photoreceptors become permanently unresponsive after a single such exposure. Another mutant was isolated which prevents degeneration in rdgB flies but which has a normal receptor potential. This suppressor of degeneration is an allele of norpA. It is proposed that the normal norpA gene codes for a product which, when activated, leads to the receptor potential, and which is inactivated by the product of the normal rdgB gene.
mesh_terms: D000135:Acid Phosphatase / Q000378:metabolism; D000251:Adenosine Triphosphatases / Q000378:metabolism; D000818:Animals; D002874:Chromosome Mapping; D003624:Darkness; D004331:Drosophila melanogaster; D005796:Genes; D008027:Light; D008564:Membrane Potentials; D010786:Photoreceptor Cells / Q000503:physiopathology / Q000648:ultrastructure; D011188:Potassium / Q000378:metabolism; D012160:Retina / Q000473:pathology*; D012964:Sodium / Q000378:metabolism; D013489:Suppression, Genetic; D013696:Temperature; D013997:Time Factors; D014801:Vitamin A / Q000378:metabolism
chemical_list: D014801:Vitamin A; D012964:Sodium; D000135:Acid Phosphatase; D000251:Adenosine Triphosphatases; D011188:Potassium