Evaluation Of Cgmp-Phosphodiesterase (Pde) Subunits For Causal Association With Rod–Cone Dysplasia 2 (Rcd2), A Canine Model Of Abnormal Retinal Cgmp Metabolism, Weiquan Wang, Gregory Acland, Kunal Ray, Gustavo Aguirre
Sep 1999
Evaluation Of Cgmp-Phosphodiesterase (Pde) Subunits For Causal Association With Rod–Cone Dysplasia 2 (Rcd2), A Canine Model Of Abnormal Retinal Cgmp Metabolism, Weiquan Wang, Gregory Acland, Kunal Ray, Gustavo Aguirre
Gustavo D. Aguirre, VMD, PhD
Rod-cone dysplasia types 1 (rcd1; Irish setter) and 2 (rcd2; collie) in dogs are early onset forms of progressive retinal atrophy (PRA) which serve as models of retinitis pigmentosa(RP) in humans. As bothrcd1 and rcd2 result from abnormal retinal cGMP metabolism associated with a deficiency in cGMP-phosphodiesterase (PDE) activity, and a nonsense mutation in the PDE6B subunit gene has been shown to cause rcd1, the genes encoding the four subunits of the PDE complex (PDE6A, PDE6B, PDE6G and PDE6D) make compelling candidates for the rcd2 locus. We adopted diverse strategies to evaluate causal association of the four PDE subunit genes …
Synthesis And Release Of Docosahexaenoic Acid By The Rpe Cells Of Prcd-Affected Dogs, Huiming Chen, Jharna Ray, Virginia Scarpino, Gregory M. Acland, Gustavo D. Aguirre, Robert E. Anderson
Aug 1999
Synthesis And Release Of Docosahexaenoic Acid By The Rpe Cells Of Prcd-Affected Dogs, Huiming Chen, Jharna Ray, Virginia Scarpino, Gregory M. Acland, Gustavo D. Aguirre, Robert E. Anderson
Gustavo D. Aguirre, VMD, PhD
Purpose: Dogs affected with progressive rod-cone degeneration (prcd) have reduced levels of docosahexaenoic acid (DHA, 22:6n-3) in their plasma and rod photoreceptor outer segments (ROS). Dietary supplementation of DHA has failed to increase the ROS DHA levels to that of unaffected control dogs. The present study was undertaken to test the hypothesis that prcd-affected dogs have a reduced capacity for the synthesis and/or release of DHA in retinal pigment epithelial (RPE) cells.
Methods: RPE cells (first passage cultures) from prcd-affected and normal dogs were incubated with [3H]eicosapentaenoic acid (EPA, 20:5n-3) for 24 and 72 hours. After …
A Novel Retinal Degeneration Locus Identified By Linkage And Comparative Mapping Of Canine Early Retinal Degeneration, Gregory Acland, Kunal Ray, Cathryn Mellersh, Amelia Langston, Jasper Rine, Elaine Ostrander, Gustavo Aguirre
Jul 1999
A Novel Retinal Degeneration Locus Identified By Linkage And Comparative Mapping Of Canine Early Retinal Degeneration, Gregory Acland, Kunal Ray, Cathryn Mellersh, Amelia Langston, Jasper Rine, Elaine Ostrander, Gustavo Aguirre
Gustavo D. Aguirre, VMD, PhD
Early retinal degeneration (erd) is an early onset progressive retinal atrophy, a hereditary canine retinal disease phenotypically similar to human retinitis pigmentosa (RP). In previous efforts to identify the erd locus, canine homologs of genes causally associated with RP in humans, such as opsin (RHO), the β-subunit gene for cyclic GMP phosphodiesterase (PDE6B), and RDS/peripherin, were excluded. A genome-wide screen was undertaken on canine families segregating the erd disease. Analysis of over 150 canine-specific markers has localized erd to a single linkage group comprising two previously identified canine linkage groups, 20 and 26, corresponding to canine radiation hybrid groups RH.34-a …
Photoreceptor Dysplasia (Pd) In Miniature Schnauzer Dogs: Evaluation Of Candidate Genes By Molecular Genetic Analysis, Qi Zhang, V J. Baldwin, Gregory M. Acland, C J. Parshall, J. Haskell, Gustavo D. Aguirre, Kunal Ray
Dec 1998
Photoreceptor Dysplasia (Pd) In Miniature Schnauzer Dogs: Evaluation Of Candidate Genes By Molecular Genetic Analysis, Qi Zhang, V J. Baldwin, Gregory M. Acland, C J. Parshall, J. Haskell, Gustavo D. Aguirre, Kunal Ray
Gustavo D. Aguirre, VMD, PhD
Photoreceptor dysplasia (pd) is one of a group of at least six distinct autosomal and one X-linked retinal disorders identified in dogs which are collectively known as progressive retinal atrophy (PRA). It is an early onset retinal disease identified in miniature schnauzer dogs, and pedigree analysis and breeding studies have established autosomal recessive inheritance of the disease. Using a gene-based approach, a number of retina-expressed genes, including some members of the phototransduction pathway, have been causally implicated in retinal diseases of humans and other animals. Here we examined seven such potential candidate genes (opsin, RDS/peripherin, ROM1, rod cGMP-gated cation channel …
Overview Of The International Workshop On Canine Genetics, Gustavo D. Aguirre, Kunal Ray, Gregory M. Acland
Dec 1998
Overview Of The International Workshop On Canine Genetics, Gustavo D. Aguirre, Kunal Ray, Gregory M. Acland
Gustavo D. Aguirre, VMD, PhD
No abstract provided.
