作者: Jude Fitzgibbon , David Hunt
DOI: 10.1007/978-1-4615-1897-6_29
关键词: Usher syndrome 、 Genetics 、 Retinitis pigmentosa 、 Peripherin 、 Biology 、 Mutation 、 Visual phototransduction 、 Drosophila melanogaster 、 Retinal degeneration 、 Retinal pigment epithelium
摘要: Animal models have been successfully used for the identification of a number genes that are mutated in human retinal degenerations. For example, study rds (Travis et al., 1989), rd (Bowes 1993; Pittler and Baehr, 1991) shaker-1 (Gibson 1995) mutants mouse has led to mutations peripherin/rds (Farrar 1991; Kajiwara rod cGMP phosphodiesterase s subunit (McLaughlin 1993) give rise retinitis pigmentosa (RP) man, mutation gene myosin type VI1 Usher syndrome IB (Weil 1995). An additional source with effects on visual process is present fruitfly, Drosophila melanogaster. As phototransduction mammals involves signal transduction pathway distinct from invertebrate photoreceptors, these degenerations (Smith Wu not considered detail as cause disease.