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Abstract #18541 Published in IGR 3-3
Post-transcriptional modification of the gene genetically linked to juvenile open-angle glaucoma: novel transcripts in human ocular tissues
Kong THGene 2001; 12: 115-122
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.
Dr T.H. Kong, Department of Ophthalmology and Visual Sciences, Yale University School of Medicine, 330 Cedar Street, 06510, New Haven, CT, USA
Classification:
1.2 Population genetics (Part of: 1 General aspects)
