Hartong DT, Berson EL, Dryja TP (2006) Retinitis pigmentosa.Wang DY, Chan WM, Tam PO, Baum L, Lam DS, Chong KK, Fan BJ, Pang CP (2005) Gene mutations in retinitis pigmentosa and their clinical implications.Johnson K, Grawe F, Grzeschik N, Knust E (2002) Drosophila Crumbs Is Required to Inhibit Light-Induced Photoreceptor Degeneration.Pocha SM, Shevchenko A, Knust E (2011) Crumbs regulates rhodopsin transport by interacting with and stabilizing myosin V.Li C, Geng C, Leung HT, Hong YS, Strong LL, Schneuwly S, Pak WL (1999) INAF, a protein required for transient receptor potential Ca(2+) channel function.Chevesich J, Kreuz AJ, Montell C (1997) Requirement for the PDZ domain protein, INAD, for localization of the TRP store-operated channel to a signaling complex.Dasgupta U, Bamba T, Chiantia S, Karim P, Tayoun AN, Yonamine I, Rawat SS, Rao RP, Nagashima K, Fukusaki E, Puri V, Dolph PJ, Schwille P, Acharya JK, Acharya U (2009) Ceramide kinase regulates phospholipase C and phosphatidylinositol 4, 5, bisphosphate in phototransduction.A mutant defect associated with the phototransduction process. Harris WA, Stark WS (1977) Hereditary retinal degeneration in Drosophila melanogaster.Stark WS, Sapp R (1987) Ultrastructure of the retina of Drosophila melanogaster: the mutant ora (outer rhabdomeres absent) and its inhibition of degeneration in rdgB (retinal degeneration-B).Larrivee DC, Conrad SK, Stephenson RS, Pak WL (1981) Mutation that selectively affects rhodopsin concentration in the peripheral photoreceptors of Drosophila melanogaster.Pak WL, Grossfield J, Whiten V (1969) Non-phototactic mutants in a study of vision of Drosophila.Baker NE, Li K, Quiquand M, Ruggiero R, Wang LH (2014) Eye development.Sanes JR, Zipursky SL (2010) Design principles of insect and vertebrate visual systems.Viets K, Eldred K, Johnston RJ Jr (2016) Mechanisms of photoreceptor patterning in vertebrates and invertebrates.Davis TL, Rebay I (2017) Master regulators in development: views from the Drosophila retinal determination and mammalian pluripotency gene networks.Wiley Interdiscip Rev Dev Biol 2(4):545–557. Treisman JE (2013) Retinal differentiation in Drosophila.Kumar JP (2017) The fly eye: through the looking glass.Amini R, Rocha-Martins M, Norden C (2018) Neuronal migration and lamination in the vertebrate retina.Heavner W, Pevny L (2012) Eye development and retinogenesis.Cagan RL, Ready DF (1989) The emergence of order in the Drosophila pupal retina.Ready DF, Hanson TE, Benzer S (1976) Development of the Drosophila retina, a neurocrystalline lattice.Wang T, Montell C (2007) Phototransduction and retinal degeneration in Drosophila.Montell C (2012) Drosophila visual transduction.Wang X, Wang T, Ni JD, von Lintig J, Montell C (2012) The Drosophila visual cycle and de novo chromophore synthesis depends on rdhB.Wang X, Wang T, Jiao Y, von Lintig J, Montell C (2010) Requirement for an enzymatic visual cycle in Drosophila.Kiselev A, Subramaniam S (1994) Activation and regeneration of rhodopsin in the insect visual cycle.
In this chapter, an outline of approaches and experimental specifications are described to enable utilizing or developing new fly models of RP. To date six fly models for RP, including RP4, RP11, RP12, RP14, RP25, and RP26, have been established, and have provided useful information on RP disease biology. A remarkable conservation of disease genes across evolution and the similarity of the general organization of the fly and vertebrate photoreceptor cell had prompted research on fly retinal degeneration. Unraveling genetic interactions and thereby different cellular processes is relatively easy because more than a century of research on flies has enabled the creation of sophisticated genetic tools to perturb gene function. The fruit fly, Drosophila melanogaster, has effectively proven to be a great model system to better understand interconnected genetic networks. This is indicative of the influence of the environment, and/or of the distinct genetic makeup of the individual. A hallmark of this disease is the variable degree to which symptoms are manifest in patients. These mutations impact the integrity of rod photoreceptors and ultimately result in the progressive degeneration of rods and cone photoreceptors in the retina, leading to complete blindness. It is associated with mutations in a wide variety of genes with many different functions. Retinitis pigmentosa (RP) is a complex inherited disease.
0 kommentar(er)
