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      Adult-onset primary open-angle glaucoma caused by mutations in optineurin.

      Science (New York, N.Y.)

      Adult, Alternative Splicing, Amino Acid Sequence, Brain, metabolism, Chromosome Mapping, Chromosomes, Human, Pair 10, genetics, Ciliary Body, Exons, Eye Proteins, analysis, chemistry, physiology, Female, Glaucoma, Open-Angle, Golgi Apparatus, Heterozygote, Humans, Intraocular Pressure, Male, Middle Aged, Mutation, Mutation, Missense, Nerve Tissue Proteins, Ocular Hypertension, Pedigree, Polymorphism, Single-Stranded Conformational, Retina, Trabecular Meshwork, Transcription Factor TFIIIA, Zinc Fingers

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          Abstract

          Primary open-angle glaucoma (POAG) affects 33 million individuals worldwide and is a leading cause of blindness. In a study of 54 families with autosomal dominantly inherited adult-onset POAG, we identified the causative gene on chromosome 10p14 and designated it OPTN (for "optineurin"). Sequence alterations in OPTN were found in 16.7% of families with hereditary POAG, including individuals with normal intraocular pressure. The OPTN gene codes for a conserved 66-kilodalton protein of unknown function that has been implicated in the tumor necrosis factor-alpha signaling pathway and that interacts with diverse proteins including Huntingtin, Ras-associated protein RAB8, and transcription factor IIIA. Optineurin is expressed in trabecular meshwork, nonpigmented ciliary epithelium, retina, and brain, and we speculate that it plays a neuroprotective role.

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          Journal
          11834836
          10.1126/science.1066901

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