Structural, energetic, and mechanical perturbations in rhodopsin mutant that causes congenital stationary night blindness.

ABSTRACT: Several point mutations in rhodopsin cause retinal diseases including congenital stationary night blindness and retinitis pigmentosa. The mechanism by which a single amino acid residue substitution leads to dysfunction is poorly understood at the molecular level. A G90D point mutation in rhodopsin causes constitutive activity and leads to congenital stationary night blindness. It is unclear which perturbations the mutation introduces and how they can cause the receptor to be constitutively active. To reveal insight into these mechanisms, we characterized the perturbations introduced into dark state G90D rhodopsin from a transgenic mouse model expressing exclusively the mutant rhodopsin in rod photoreceptor cells. UV-visible absorbance spectroscopy revealed hydroxylamine accessibility to th

SUBMITTER: Kawamura S 

PROVIDER: S-EPMC3381145 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature