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Opsin activation as a cause of congenital night blindness

Nature Neuroscience volume 6, pages 731–735 (2003)Cite this article

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.

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Figure 1: Two models of how the rhodopsin mutant G90D might cause congenital night blindness.
Figure 2: Expression of EGFP-tagged rhodopsin in rod photoreceptor cells of transgenic X. laevis.
Figure 3: Single-cell photoresponse of rod photoreceptor cells from wild-type and transgenic frogs.
Figure 4: Desensitization from night blindness mutants and phenotypic rescue with 11-cis-retinal.
Figure 5: Desensitization from the counterion mutant E113Q and phenotypic rescue with retinal.

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Acknowledgements

We thank E. Tsina for assistance with fluorescence microscopy, V. Kefalov and G. Jones for help with electrophysiology, and C. Ding, A. Sampath and C. Makino for critical comments on the manuscript. We thank B. Tam and D. Papermaster for their time and patience in teaching us how to make transgenic X. laevis. Finally, we are especially grateful to J. Miller for retinal reattachment (D.D.O.) midway thorough the course of these studies. This work was supported by US National Institutes of Health.

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Authors and Affiliations

  1. Department of Biochemistry and Volen Center for Complex Systems, Brandeis University, Waltham, 02454, Massachusetts, USA

    Shengnan Jin & Daniel D Oprian

  2. Department of Physiology and Biophysics, Boston University School of Medicine, Boston, 02118, Massachusetts, USA

    M Carter Cornwall

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  1. Shengnan Jin
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Correspondence to M Carter Cornwall or Daniel D Oprian.

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Jin, S., Cornwall, M. & Oprian, D. Opsin activation as a cause of congenital night blindness. Nat Neurosci 6, 731–735 (2003). https://doi.org/10.1038/nn1070

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