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L.S. Hunter, D. Sidjanin, J. Johnson, B. Zangerl, F. Galibert, C. Andre, E. Talamas, G. Acland, G. Aguirre; Mapping and Evaluation of Cataract Candidate Genes in Canine Models . Invest. Ophthalmol. Vis. Sci. 2005;46(13):824.
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© ARVO (1962-2015); The Authors (2016-present)
The dog represents a large mammalian model for the study of human ocular disease. The availability of radiation hybrid (RH) panels, bacterial artificial chromosome (BAC) libraries, and integrated (linkage, RH, and cytogenetic) maps along with anatomic and physiological similarities, make canine models a viable option for the study of human ocular diseases. We previously mapped 7 cataract candidate genes in the dog using a radiation hybrid panel. Purpose: To expand the number of mapped cataract genes in the dog using an RH5000 radiation hybrid panel, to choose markers proximal to the RH map location for use in association testing in canine pedigrees with inherited cataracts, and to evaluate associated genes for mutations.Methods:Primers were designed to amplify genomic sequences for an additional 13 canine cataract candidate genes. Radiation hybrid mapping was conducted using a canine/hamster radiation hybrid panel (RH5000) and results were analyzed using Multimap® software. Microsatellite markers were chosen proximal to these candidate genes on their respective chromosomes and are being used for association and linkage testing in canine pedigrees demonstrating inherited posterior subcapsular cataract. Results: The cataract genes were mapped to canine chromosomes in regions expected based on previously identified canine/human conserved syntenies. To date, no associations have been identified in the canine cataract pedigrees and the cataract genes so far evaluated. Conclusions: Together with the previous study, we have now mapped 20 cataract genes using a radiation hybrid panel. If these genes are excluded from our association study this may indicate the involvement of a novel cataract gene in the dog. The discovery of a novel cataract gene in the dog may be useful in screening human patients with unknown cataract gene cause. Canine models for ocular disease may help in the discovery of novel cataract genes and further our understanding of cataractogenesis.
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