Opsin activation as a cause of congenital night blindness.
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.
Jin
Shengnan
S
Department of Biochemistry and Volen Center for Complex Systems, Brandeis University, Waltham, Massachusetts 02454, USA.
Cornwall
M Carter
MC
Oprian
Daniel D
DD
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
D008164:Luminescent Proteins; D049452:Green Fluorescent Proteins; D012243:Rhodopsin; D012172:Retinaldehyde