Editors' ChoiceStructural Biology

Insight into a Retinal Degeneration Disease

Sci. Signal.  21 Oct 2014:
Vol. 7, Issue 348, pp. ec294
DOI: 10.1126/scisignal.aaa1005

Human bestrophin 1 (hBest1) is a membrane protein that forms a chloride channel in the retinal pigment epithelium. Mutations in hBest1 can lead to a retinal degeneration disease known as Best disease. Yang et al. describe the structure of KpBest, a bacterial homolog of hBest1. KpBest forms a pentamer with an ion channel at its center. In contrast to hBest1, KpBest1 is a sodium channel. The structure suggests a mechanism for ion selectivity that was confirmed by mutagenesis of KpBest and hBest1. A model of the hBest1 channel structure based on the KpBest structure reveals how mutations cause disease.

T. Yang, Q. Liu, B. Kloss, R. Bruni, R. C. Kalathur, Y. Guo, E. Kloppmann, B. Rost, H. M. Colecraft, W. A. Hendrickson, Structure and selectivity in bestrophin ion channels. Science 346, 355–359 (2014). [Abstract] [Full Text]

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