ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2004
Novel dominant rhodopsin mutation triggers two mechanisms of retinal degeneration and photoreceptor desensitization.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 37 citations in OpenAlex.
- Knockdown of Dehydrodolichyl Diphosphate Synthase in theFrontiers in molecular neuroscience · 2021Article
- Gαq splice variants mediate phototransduction, rhodopsin synthesis, and retinal integrity inThe Journal of biological chemistry · 2020Article
- Human eye conditions: insights from the fly eye.Human genetics · 2019Review
- Drosophila Rhodopsin 7 can partially replace the structural role of Rhodopsin 1, but not its physiological function.Journal of comparative physiology. A, Neuroethology, sensory, neural, and behavioral physiology · 2017Article
- Haeme oxygenase protects against UV light DNA damages in the retina in clock-dependent manner.Scientific reports · 2017Article
- EnRICH: Extraction and Ranking using Integration and Criteria Heuristics.BMC systems biology · 2013Article
- Compartmentalization and Ca2+ buffering are essential for prevention of light-induced retinal degeneration.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2012Article
- PDA (prolonged depolarizing afterpotential)-defective mutants: the story of nina's and ina's--pinta and santa maria, too.Journal of neurogenetics · 2012Review
- Protein Gq modulates termination of phototransduction and prevents retinal degeneration.The Journal of biological chemistry · 2012Article
- Effect of g protein-coupled receptor kinase 1 (Grk1) overexpression on rod photoreceptor cell viability.Investigative ophthalmology & visual science · 2010Article
- Rhodopsin: the functional significance of asn-linked glycosylation and other post-translational modifications.Ophthalmic genetics · 2009Review
- Mutation of a TADR protein leads to rhodopsin and Gq-dependent retinal degeneration in Drosophila.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2008Article
- Prolonged G(q) activity triggers fly rhodopsin endocytosis and degradation, and reduces photoreceptor sensitivity.The EMBO journal · 2007Article
- A novel form of transducin-dependent retinal degeneration: accelerated retinal degeneration in the absence of rod transducin.Investigative ophthalmology & visual science · 2007Article
- Phototransduction and retinal degeneration in Drosophila.Pflugers Archiv : European journal of physiology · 2007Review
- Translocation of Gq alpha mediates long-term adaptation in Drosophila photoreceptors.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2007Article
- Stable rhodopsin/arrestin complex leads to retinal degeneration in a transgenic mouse model of autosomal dominant retinitis pigmentosa.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2006Article
- Neurodegenerative mutants in Drosophila: a means to identify genes and mechanisms involved in human diseases?Invertebrate neuroscience : IN · 2005Review
- Review
- Modeling activated states of GPCRs: the rhodopsin template.Journal of computer-aided molecular designArticle
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
A variety of rod opsin mutations result in autosomal dominant retinitis pigmentosa and congenital night blindness in humans. One subset of these mutations encodes constitutively active forms of the rod opsin protein. Some of these dominant rod opsin mutant proteins, which desensitize transgenic Xenopus rods, provide an animal model for congenital night blindness. In a genetic screen to identify retinal degeneration mutants in Drosophila, we identified a dominant mutation in the ninaE gene (NinaE(pp100)) that encodes the rhodopsin that is expressed in photoreceptors R1-R6. Deep pseudopupil analysis and histology showed that the degeneration was attributable to a light-independent apoptosis. Whole-cell recordings revealed that the NinaE(pp100) mutant photoreceptor cells were strongly desensitized, which partially masked their constitutive activity. This desensitization primarily resulted from both the persistent binding of arrestin (ARR2) to the NINAE(pp100) mutant opsin and the constitutive activity of the phototransduction cascade. Whereas mutations in several Drosophila genes other than ninaE were shown to induce photoreceptor cell apoptosis by stabilizing a rhodopsin-arrestin complex, NinaE(pp100) represented the first rhodopsin mutation that stabilized this protein complex. Additionally, the NinaE(pp100) mutation led to elevated levels of G(q)alpha in the cytosol, which mediated a novel retinal degeneration pathway. Eliminating both G(q)alpha and arrestin completely rescued the NinaE(pp100)-dependent photoreceptor cell death, which indicated that the degeneration is entirely dependent on both G(q)alpha and arrestin. Such a combination of multiple pathological pathways resulting from a single mutation may underlie several dominant retinal diseases in humans.
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