Insights into congenital stationary night blindness based on the structure of G90D rhodopsin.
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ABSTRACT:
SUBMITTER: Singhal A
PROVIDER: S-EPMC3674435 | biostudies-literature | 2013 Jun
REPOSITORIES: biostudies-literature
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Insights into congenital stationary night blindness based on the structure of G90D rhodopsin.
Singhal Ankita A Ostermaier Martin K MK Vishnivetskiy Sergey A SA Panneels Valérie V Homan Kristoff T KT Tesmer John J G JJ Veprintsev Dmitry D Deupi Xavier X Gurevich Vsevolod V VV Schertler Gebhard F X GF Standfuss Joerg J
EMBO reports 20130412 6
We present active-state structures of the G protein-coupled receptor (GPCRs) rhodopsin carrying the disease-causing mutation G90D. Mutations of G90 cause either retinitis pigmentosa (RP) or congenital stationary night blindness (CSNB), a milder, non-progressive form of RP. Our analysis shows that the CSNB-causing G90D mutation introduces a salt bridge with K296. The mutant thus interferes with the E113Q-K296 activation switch and the covalent binding of the inverse agonist 11-cis-retinal, two in ...[more]
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