Publikationsdatum:
2002-02-09
Beschreibung:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Rezaie, Tayebeh -- Child, Anne -- Hitchings, Roger -- Brice, Glen -- Miller, Lauri -- Coca-Prados, Miguel -- Heon, Elise -- Krupin, Theodore -- Ritch, Robert -- Kreutzer, Donald -- Crick, R Pitts -- Sarfarazi, Mansoor -- EY-09947/EY/NEI NIH HHS/ -- New York, N.Y. -- Science. 2002 Feb 8;295(5557):1077-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Molecular Ophthalmic Genetics Laboratory, Surgical Research Center, Department of Surgery, University of Connecticut Health Center, Farmington, CT 06030, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11834836" target="_blank"〉PubMed〈/a〉
Schlagwort(e):
Adult
;
Alternative Splicing
;
Amino Acid Sequence
;
Brain/metabolism
;
Chromosome Mapping
;
Chromosomes, Human, Pair 10/genetics
;
Ciliary Body/metabolism
;
Exons
;
Eye Proteins/analysis/chemistry/*genetics/physiology
;
Female
;
Glaucoma, Open-Angle/*genetics
;
Golgi Apparatus/chemistry
;
Heterozygote
;
Humans
;
Intraocular Pressure
;
Male
;
Middle Aged
;
*Mutation
;
*Mutation, Missense
;
Nerve Tissue Proteins/analysis/chemistry/*genetics/physiology
;
Ocular Hypertension/genetics
;
Pedigree
;
Polymorphism, Single-Stranded Conformational
;
Retina/metabolism
;
Trabecular Meshwork/metabolism
;
*Transcription Factor TFIIIA
;
Zinc Fingers
Print ISSN:
0036-8075
Digitale ISSN:
1095-9203
Thema:
Biologie
,
Chemie und Pharmazie
,
Informatik
,
Medizin
,
Allgemeine Naturwissenschaft
,
Physik
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