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Retinitis pigmentosa-associated rhodopsin mutations in three membrane-located cysteine residues present three different biochemical phenotypes.

Abstract：

:A large number of mutations in rhodopsin are associated with autosomal dominant retinitis pigmentosa (ADRP). We analyzed the biochemical phenotypes of the ADRP-associated cysteine mutants C167R, C222R, and C264del. C222R behaved as wild type in every aspect testable and is classified as a class I mutant. C167R produced intact protein but did not regenerate with 11-cis retinal and was not transported to the plasma membrane. We confirm its classification as a class IIa mutant. C264del represents a novel phenotype, which we propose to call class III. It produced a truncated protein of 27kDa that failed to regenerate with 11-cis retinal and was not targeted to the plasma membrane.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Breikers G,Portier-VandeLuytgaarden MJ,Bovee-Geurts PH,DeGrip WJ

doi

10.1016/s0006-291x(02)02308-2

subject

Has Abstract

pub_date

2002-10-04 00:00:00

pages

847-53

issue

4

eissn

0006-291X

issn

1090-2104

pii

S0006291X02023082

journal_volume

297

pub_type

杂志文章

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