Abstract
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.
MeSH terms
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Adolescent
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Adult
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Aged
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Aged, 80 and over
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Base Sequence
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Blotting, Northern
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Cell Line
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Child
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Child, Preschool
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Ciliary Body / metabolism
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Cytoskeletal Proteins
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DNA, Complementary / chemistry
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DNA, Complementary / genetics
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Dexamethasone / pharmacology
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Eye Proteins / genetics*
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Female
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Gene Deletion
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Gene Expression
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Gene Expression Regulation / drug effects
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Glaucoma, Open-Angle / genetics*
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Glaucoma, Open-Angle / pathology
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Glycoproteins / genetics*
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Humans
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Infant
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Male
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Middle Aged
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RNA Processing, Post-Transcriptional*
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RNA, Messenger / genetics
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RNA, Messenger / metabolism
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Retina / metabolism
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Reverse Transcriptase Polymerase Chain Reaction
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Sequence Analysis, DNA
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Sequence Deletion
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Tissue Distribution
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Trabecular Meshwork / cytology
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Trabecular Meshwork / drug effects
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Trabecular Meshwork / metabolism
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Transcription, Genetic
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Up-Regulation / drug effects
Substances
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Cytoskeletal Proteins
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DNA, Complementary
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Eye Proteins
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Glycoproteins
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RNA, Messenger
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trabecular meshwork-induced glucocorticoid response protein
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Dexamethasone