Rhodopsin mutations as the cause of retinal degeneration. Classification of degeneration phenotypes in the model system Drosophila melanogaster.
Insight into the molecular basis of inherited photoreceptor cell degeneration has been rapidly evolving during the last decade. The Drosophila Rh1 rhodopsin gene was the first gene shown to cause retinal degeneration when mutated. Many more degeneration-causing mutations in genes encoding rhodopsin and other photoreceptor proteins have been isolated since then in both, Drosophila and humans. To date some 70 mutations of the Drosophila Rh1 gene have been isolated, most of them have been characterized at the molecular level, and more than 60% of them cause retinal degeneration. This review lists the known Rh1 mutations that cause retinal degeneration up to April 1998, gives an overview on the ultrastructural and biochemical correlates of photoreceptor cell degeneration, and suggests a system for the classification of degeneration-causing Rh1 mutations.
Bentrop
J
J
Zoologisches Institut, Lehrstuhl 1, Universität Karlsruhe, Deutschland. do02@rz.uni-karlsruhe.de
D000595:Amino Acid Sequence; D000818:Animals; D004195:Disease Models, Animal; D004331:Drosophila melanogaster / Q000235:genetics*; D005838:Genotype; D008969:Molecular Sequence Data; D010641:Phenotype; D017956:Photoreceptor Cells, Invertebrate / Q000473:pathology; D017354:Point Mutation; D012162:Retinal Degeneration / Q000145:classification / Q000235:genetics* / Q000473:pathology; D012243:Rhodopsin / Q000235:genetics*
D012243:Rhodopsin