Post-transcriptional modification of the gene genetically linked to juvenile open-angle glaucoma; novel transcripts...

Mutation in the myocilin gene is associated with 4% (familial form) of glaucoma cases. The underlying mechanism in non-familial cases remains unclear. Myocilin is shown here to undergo a post-transcriptional modification event, giving rise to deletion forms. Data presented show the expression profile of the shorter transcripts occurs in a tissue-specific and donor-specific manner, and the possibility is raised that their expression is disease-associated. Furthermore, demonstration of their upregulation by dexamethasone provide support for a possible role in steroid-induced glaucoma, a model for the disease process of glaucoma.