title: Post-transcriptional modification of the gene genetically linked to juvenile open-angle glaucoma; novel transcripts in human ocular tissues.
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.
authors.affiliation: Department of Ophthalmology and Visual Sciences, Yale University School of Medicine, 330 Cedar Street, New Haven, CT 06510, USA. timkong@genectr.hunter.cuny.edu
authors.forename: T H
authors.initials: TH
authors.lastname: Kong
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D015152:Blotting, Northern; D002460:Cell Line; D002648:Child; D002675:Child, Preschool; D002924:Ciliary Body / Q000378:metabolism; D003598:Cytoskeletal Proteins; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D003907:Dexamethasone / Q000494:pharmacology; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D015870:Gene Expression; D005786:Gene Expression Regulation / Q000187:drug effects; D005902:Glaucoma, Open-Angle / Q000235:genetics* / Q000473:pathology; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D012323:RNA Processing, Post-Transcriptional; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012160:Retina / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D014018:Tissue Distribution; D014129:Trabecular Meshwork / Q000166:cytology / Q000187:drug effects / Q000378:metabolism; D014158:Transcription, Genetic; D015854:Up-Regulation / Q000187:drug effects; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D018076:DNA, Complementary; D003907:Dexamethasone; D005136:Eye Proteins; D006023:Glycoproteins; D012333:RNA, Messenger; D000099179:Myocilin