Opsin activation as a cause of congenital night blindness
- 1 June 2003
- journal article
- research article
- Published by Springer Nature in Nature Neuroscience
- Vol. 6 (7) , 731-735
- https://doi.org/10.1038/nn1070
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.Keywords
This publication has 27 references indexed in Scilit:
- An Opsin Mutant with Increased Thermal StabilityBiochemistry, 2003
- Characterization of Rhodopsin Congenital Night Blindness Mutant T94IBiochemistry, 2003
- Xenopus Rhodopsin PromoterPublished by Elsevier ,2001
- A Functional Rhodopsin-Green Fluorescent Protein Fusion Protein Localizes Correctly in Transgenic Xenopus laevis Retinal Rods and Is Expressed in a Time-dependent PatternJournal of Biological Chemistry, 2001
- Activating Mutations of Rhodopsin and Other G Protein-Coupled ReceptorsAnnual Review of Biophysics, 1996
- Characterization of the Xenopus Rhodopsin GenePublished by Elsevier ,1996
- Characterization of the Mutant Visual Pigment Responsible for Congenital Night Blindness: A Biochemical and Fourier-Transform Infrared Spectroscopy StudyBiochemistry, 1996
- Rhodopsin mutation G90D and a molecular mechanism for congenital night blindnessNature, 1994
- Cellular mechanisms that underlie bleaching and background adaptation.The Journal of general physiology, 1990
- Intracellular recordings from gecko photoreceptors during light and dark adaptation.The Journal of general physiology, 1975