Loss of αB-crystallin function in zebrafish reveals critical roles in the development of the lens and stress resistance of the heart.

ABSTRACT: Genetic mutations in the human small heat shock protein αB-crystallin have been implicated in autosomal cataracts and skeletal myopathies, including heart muscle diseases (cardiomyopathy). Although these mutations lead to modulation of their chaperone activity in vitro, the in vivo functions of αB-crystallin in the maintenance of both lens transparency and muscle integrity remain unclear. This lack of information has hindered a mechanistic understanding of these diseases. To better define the functional roles of αB-crystallin, we generated loss-of-function zebrafish mutant lines by utilizing the CRISPR/Cas9 system to specifically disrupt the two αB-crystallin genes, αBa and αBb We observed lens abnormalities in the mutant lines of both genes, and the penetrance

SUBMITTER: Mishra S 

PROVIDER: S-EPMC5767876 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature