Journal
NATURE NEUROSCIENCE
Volume 6, Issue 7, Pages 731-735Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nn1070
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- NEI NIH HHS [R01 EY007965] Funding Source: Medline
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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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