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Primary open-angle glaucoma (POAG) affects 33 million
individuals worldwide and is a leading cause of blindness. In a studyof 54 families with autosomal dominantly inherited adult-onsetPOAG, we
identified the causative gene on chromosome 10p14 anddesignated it
OPTN (for "optineurin"). Sequence alterations inOPTN were found in 16.7% of families with hereditary POAG,
includingindividuals with normal intraocular pressure. The
OPTN gene codesfor a conserved 66-kilodalton protein of
unknown function thathas been implicated in the tumor necrosis
factor- signaling pathwayand that interacts with diverse proteins
including Huntingtin,Ras-associated protein RAB8, and transcription
factor IIIA. Optineurinis expressed in trabecular meshwork,
nonpigmented ciliary epithelium,retina, and brain, and we speculate
that it plays a neuroprotectiverole.
1 Molecular Ophthalmic Genetics Laboratory,
Surgical Research Center, Department of Surgery, University of
Connecticut Health Center, Farmington, CT 06030, USA.
2 Department of Cardiological Sciences, St.
George's Hospital Medical School, London, SW17 0RE, UK.
3 Glaucoma Research Unit, Moorfields Eye Hospital,
London, ECIV 2PD, UK.
4 Department of Pathology,
University of Connecticut Health Center, Farmington, CT 06030, USA.
5 Department of Ophthalmology and Visual Science,
Yale University, New Haven, CT 06520, USA.
6 Department of Ophthalmology, Vision Research
Program UHN, Toronto, Canada M5T 2S8.
7 University
Eye Specialists, 676 North St. Clair, Suite 320, Chicago, IL 60611, USA.
8 New York Eye and Ear Infirmary, and New York
Medical College, Valhalla, NY 10003, USA.
9 International Glaucoma Association, 108C Warner
Road, London, SE5 9HQ, UK.
*
To whom correspondence should be addressed. E-mail:
mansoor{at}neuron.uchc.edu
The editors suggest the following Related Resources on Science sites:
In Science Magazine
PERSPECTIVES
James S. Friedman and Michael A. Walter (8 February 2002) Science295 (5557), 983.
[DOI: 10.1126/science.1069950] |Summary »|Full Text »|PDF »
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121, 1034-1038
|Abstract »|Full Text »|PDF »
Gene Expression Profile of the Human Trabecular Meshwork: NEIBank Sequence Tag Analysis.
S. I. Tomarev, G. Wistow, V. Raymond, S. Dubois, and I. Malyukova (2003)
Invest. Ophthalmol. Vis. Sci.
44, 2588-2596
|Abstract »|Full Text »|PDF »
Effects of Prostaglandin Analogues on Human Ciliary Muscle and Trabecular Meshwork Cells.
X. Zhao, K. E. Pearson, D. A. Stephan, and P. Russell (2003)
Invest. Ophthalmol. Vis. Sci.
44, 1945-1952
|Abstract »|Full Text »|PDF »
Expression of cell surface transmembrane carbonic anhydrase genes CA9 and CA12 in the human eye: overexpression of CA12 (CAXII) in glaucoma.
S-Y Liao, S Ivanov, A Ivanova, S Ghosh, M A Cote, K Keefe, M Coca-Prados, E J Stanbridge, and M I Lerman (2003)
J. Med. Genet.
40, 257-261
|Abstract »|Full Text »|PDF »
Transcription Profiling in Drosophila Eyes That Overexpress the Human Glaucoma-Associated Trabecular Meshwork-Inducible Glucocorticoid Response Protein/Myocilin (TIGR/MYOC).
T. Borras, T. V. Morozova, S. L. Heinsohn, R. F. Lyman, T. F. C. Mackay, and R. R. H. Anholt (2003)
Genetics
163, 637-645
|Abstract »|Full Text »|PDF »
The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms.
T Aung, K Okada, D Poinoosawmy, L Membrey, G Brice, A H Child, S S Bhattacharya, O J Lehmann, D F Garway-Heath, and R A Hitchings (2003)
Br J Ophthalmol
87, 149-152
|Abstract »|Full Text »|PDF »
Optic Disc Imaging in Conscious Rats and Mice.
B. E. Cohan, A. C. Pearch, P. T. Jokelainen, and D. F. Bohr (2003)
Invest. Ophthalmol. Vis. Sci.
44, 160-163
|Abstract »|Full Text »|PDF »
Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy.
M Votruba, D Thiselton, and S S Bhattacharya (2003)
Br J Ophthalmol
87, 48-53
|Abstract »|Full Text »|PDF »
Expression Profile and Genome Location of cDNA Clones from an Infant Human Trabecular Meshwork Cell Library.
M. K. Wirtz, J. R. Samples, H. Xu, T. Severson, and T. S. Acott (2002)
Invest. Ophthalmol. Vis. Sci.
43, 3698-3704
|Abstract »|Full Text »|PDF »
Family Score as an Indicator of Genetic Risk of Primary Open-Angle Glaucoma.
C. A. A. Hulsman, J. J. Houwing-Duistermaat, C. M. van Duijn, R. Wolfs, P. H. Borger, A. Hofman, and P. T. V. M. de Jong (2002)
Arch Ophthalmol
120, 1726-1731
|Abstract »|Full Text »|PDF »
Variations in the Myocilin Gene in Patients With Open-Angle Glaucoma.
W. L. M. Alward, Y. H. Kwon, C. L. Khanna, A. T. Johnson, S. S. Hayreh, M. B. Zimmerman, J. Narkiewicz, J. L. Andorf, P. A. Moore, J. H. Fingert, et al. (2002)
Arch Ophthalmol
120, 1189-1197
|Abstract »|Full Text »|PDF »
When Does Information Become Medically Useful?: The Role of Genetic Testing in Glaucoma.
R. K. Parrish II (2002)
Arch Ophthalmol
120, 1204-1205
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A Rab8-specific GDP/GTP Exchange Factor Is Involved in Actin Remodeling and Polarized Membrane Transport.
K. Hattula, J. Furuhjelm, A. Arffman, and J. Peranen (2002)
Mol. Biol. Cell
13, 3268-3280
|Abstract »|Full Text »|PDF »
Gene Therapy for Glaucoma: Treating a Multifaceted, Chronic Disease.
T. Borras, C. R. Brandt, R. Nickells, and R. Ritch (2002)
Invest. Ophthalmol. Vis. Sci.
43, 2513-2518
|Full Text »|PDF »
Anterior segment dysgenesis and the developmental glaucomas are complex traits.
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.
