Abstract
Three different mutations of rhodopsin are known to cause autosomal dominant congenital night blindness in humans. Although the mutations have been studied for 10 years, the molecular mechanism of the disease is still a subject of controversy. We show here, using a transgenic Xenopus laevis model, that the photoreceptor cell desensitization that is a hallmark of the disease results from persistent signaling by constitutively active mutant opsins.
Publication types
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Comparative Study
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Animals
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Animals, Genetically Modified / physiology
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Disease Models, Animal
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Dose-Response Relationship, Drug
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Dose-Response Relationship, Radiation
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Electrophysiology / methods
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Green Fluorescent Proteins
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Humans
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Luminescent Proteins / metabolism
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Membrane Potentials / drug effects
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Membrane Potentials / physiology
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Membrane Potentials / radiation effects
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Microscopy, Fluorescence
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Mutation*
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Night Blindness / congenital
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Night Blindness / genetics*
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Night Blindness / metabolism
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Phenotype
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Photic Stimulation
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Photoreceptor Cells / drug effects
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Photoreceptor Cells / physiology
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Photoreceptor Cells / radiation effects
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Protein Conformation
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Retinaldehyde / pharmacology
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Rhodopsin / genetics*
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Rhodopsin / metabolism*
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Xenopus laevis
Substances
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Luminescent Proteins
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Green Fluorescent Proteins
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Rhodopsin
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Retinaldehyde