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Human Molecular Genetics, 2002, Vol. 11, No. 11 1333-1342
© 2002 Oxford University Press

Protein localization in the human eye and genetic screen of opticin

James S. Friedman1, Mathieu Faucher3, Paul Hiscott4, Vincent L. Biron2, Mario Malenfant5, Pierre Turcotte5, Vincent Raymond3,5 and Michael A. Walter1,2,*

1Department of Ophthalmology and 2Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada T6G-2H7, 3Molecular Endocrinology and Oncology, Laval University Hospital (CHUL) Research Center, Québec City, QC, Canada G1V-4G2, 4Unit of Ophthalmology, University Clinical Departments, Liverpool, UK L69 3GA, and 5Department of Ophthalmology, CHUL and Laval University, Québec City, QC, Canada G1V-4G2

Received February 4, 2002; Accepted March 15, 2002

The opticin (OPTC) gene encodes a protein that is a member of the small leucine-rich repeat protein (SLRP) family. OPTC is located on chromosome 1q31–q32 within an age-related macular degeneration (AMD) susceptibility locus. We have developed an affinity-purified N-terminal anti-opticin antibody and used it to examine opticin expression in human eye tissues. The antibody was also used for opticin protein localization in human eye sections. Immunoblots of human eye tissues detected a predominant band of approximately 62 kDa in size in iris, trabecular meshwork/ciliary body, retina, vitreous, and optic nerve. Immunohistochemical experiments revealed that opticin is specifically localized in human cornea, iris, ciliary body, vitreous, choroid and retina. Due to opticin's protein profile in the eye, we have also screened OPTC for mutations in individuals with primary open-angle glaucoma (POAG), normal-tension glaucoma (NTG) or AMD. We identified four sequence variations, all of which were observed in normal controls except for the Arg229Cys change. Three amino acid substitutions (Ile182Thr, Arg229Cys and Arg325Trp) were in residues conserved in dog, mouse, pig and human. The Arg229Cys alteration was present in a homozygous state in one individual with neovascular AMD. Examination of the other AMD afflicted family members showed that the OPTC Arg229Cys variant did not segregate with the disorder within the family. The protein localization pattern of opticin and our preliminary screen of AMD patients suggest that a larger AMD patient screen may be warranted.

* To whom correspondence should be addressed at: Ocular Genetics Laboratory, Room 8-32, Medical Sciences Building, University of Alberta, Edmonton, AB, Canada T6G-2H7, Tel: +1 780 492 9805; Fax: +1 780 492 6934; Email: mwater{at}ualberta.ca

{dagger} AY077681, AY077682 and AY077683


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