Article
Constitutive "light" adaptation in rods from G90D rhodopsin: a mechanism for human congenital nightblindness without rod cell loss.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 1 Aug 2001
Sieving P A, Fowler M L, Bush R A, Machida S, Calvert P D, Green D G, Makino C L, McHenry C L
Abstract excerpt
A dominant form of human congenital nightblindness is caused by a gly90-->asp (G90D) mutation in rhodopsin. G90D has been shown to activate the phototransduction cascade in the absence of light in vitro. Such constitutive activity of G90D rhodopsin in vivo would desensitize rod photoreceptors and lead to nightblindness. In contrast, other rhodopsin mutations typically give rise to nightblindness by causing rod...
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