Interaction and Biophysical Properties of Human Lens Q155* BetaB2-crystallin Mutant

Overview

Journal Mol Vis

Specialties Cell Biology
Molecular Biology
Ophthalmology

Date 2005 May 13

PMID 15889016

Citations 26

Authors

Bing-Fen Liu

Jack J-N Liang

Affiliations

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Abstract

Purpose: Missense mutations in crystallin genes have been identified in autosomal dominant congenital cataracts. A truncation in the CRYBB2 gene (Q155*) has been associated with cerulean cataract, however its effects on biophysical properties have not been reported. We sought to determine the changes in conformation and protein-protein interactions brought about by this mutation.

Methods: Site specific mutations were performed to obtain the Q155* betaB2-crystallin mutant. Protein-protein interactions were screened by a mammalian two-hybrid system assay. Conformational changes were studied with spectroscopy (circular dichroism and fluorescence) and FPLC chromatography.

Results: We detected a decrease in protein-protein interactions for the Q155* betaB2-crystallin mutant. The Q155* mutant shows decreased ordered structure and stability but the partially unfolded protein retains some dimer structure.

Conclusions: The Q155* mutation in betaB2-crystallin causes changes in biophysical properties that might contribute to cataract formation.

Citing Articles

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