Post-transcriptional modification of the gene genetically linked to juvenile open-angle glaucoma; novel transcripts in human ocular tissues
Copyright policy )Post-transcriptional modification of the gene genetically linked to juvenile open-angle glaucoma; novel transcripts in human ocular tissues
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.
- Yale University United States
Adult, Aged, 80 and over, DNA, Complementary, Adolescent, Base Sequence, Ciliary Body, Gene Expression, Blotting, Northern, Dexamethasone, Cell Line, Cytoskeletal Proteins, Gene Expression Regulation, Child, Preschool, Female, Child, Eye Proteins, Gene Deletion, Glaucoma, Open-Angle, Aged, Glycoproteins
Adult, Aged, 80 and over, DNA, Complementary, Adolescent, Base Sequence, Ciliary Body, Gene Expression, Blotting, Northern, Dexamethasone, Cell Line, Cytoskeletal Proteins, Gene Expression Regulation, Child, Preschool, Female, Child, Eye Proteins, Gene Deletion, Glaucoma, Open-Angle, Aged, Glycoproteins
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