title: Opsin activation as a cause of congenital night blindness.
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.
authors.affiliation: Department of Biochemistry and Volen Center for Complex Systems, Brandeis University, Waltham, Massachusetts 02454, USA.
authors.forename: Shengnan
authors.initials: S
authors.lastname: Jin
authors.forename: M Carter
authors.initials: MC
authors.lastname: Cornwall
authors.forename: Daniel D
authors.initials: DD
authors.lastname: Oprian
mesh_terms: D000818:Animals; D030801:Animals, Genetically Modified / Q000502:physiology; D004195:Disease Models, Animal; D004305:Dose-Response Relationship, Drug; D004307:Dose-Response Relationship, Radiation; D004594:Electrophysiology / Q000379:methods; D049452:Green Fluorescent Proteins; D006801:Humans; D008164:Luminescent Proteins / Q000378:metabolism; D008564:Membrane Potentials / Q000187:drug effects / Q000502:physiology / Q000528:radiation effects; D008856:Microscopy, Fluorescence; D009154:Mutation; D009755:Night Blindness / Q000151:congenital / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D010775:Photic Stimulation; D010786:Photoreceptor Cells / Q000187:drug effects / Q000502:physiology / Q000528:radiation effects; D011487:Protein Conformation; D012172:Retinaldehyde / Q000494:pharmacology; D012243:Rhodopsin / Q000235:genetics* / Q000378:metabolism*; D014982:Xenopus laevis
chemical_list: D008164:Luminescent Proteins; D049452:Green Fluorescent Proteins; D012243:Rhodopsin; D012172:Retinaldehyde