Structural integrity of the Greek key motif in βγ-crystallins is vital for central eye lens transparency.

ABSTRACT:

Background

We highlight an unrecognized physiological role for the Greek key motif, an evolutionarily conserved super-secondary structural topology of the βγ-crystallins. These proteins constitute the bulk of the human eye lens, packed at very high concentrations in a compact, globular, short-range order, generating transparency. Congenital cataract (affecting 400,000 newborns yearly worldwide), associated with 54 mutations in βγ-crystallins, occurs in two major phenotypes nuclear cataract, which blocks the central visual axis, hampering the development of the growing eye and demanding earliest intervention, and the milder peripheral progressive cataract where surgery can wait. In order to understand this phenotypic dichotomy at the molecular level, we have studied the structural a

SUBMITTER: Vendra VP 

PROVIDER: S-EPMC3735602 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature