Development And Characterization Of A Normalized Canine Retinal Cdna Library For Genomic And Expression Studies, Barbara Zangerl, Qi Sun, Jarek Pillardy, Jennifer L. Johnson, Peter A. Schweitzer, Alvaro G. Hernandez, Lei Liu, Gregory M. Acland, Gustavo D. Aguirre
May 2006
Development And Characterization Of A Normalized Canine Retinal Cdna Library For Genomic And Expression Studies, Barbara Zangerl, Qi Sun, Jarek Pillardy, Jennifer L. Johnson, Peter A. Schweitzer, Alvaro G. Hernandez, Lei Liu, Gregory M. Acland, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
purpose. Identification of causative mutations for retinal blinding disorders is often limited by restricted understanding of gene expression and underlying molecular mechanisms that trigger degenerative processes. This study was conducted to develop a catalog of canine retina-expressed genes that would provide a unique tool to investigate normal and altered function in the adult retina. Because of the conserved syntenies between the dog and human, this approach would identify new potential disease candidate genes for both species.
methods. A canine normalized retinal cDNA library was produced and analyzed by using a modified PhredPhrap algorithm. Computerized annotation provided gene homology and chromosomal location for …
A Frameshift Mutation In Rpgr Exon Orf15 Causes Photoreceptor Degeneration And Inner Retina Remodeling In A Model Of X-Linked Retinitis Pigmentosa, William A. Beltran, Pamela Hammond, Gregory M. Acland, Gustavo D. Aguirre
Mar 2006
A Frameshift Mutation In Rpgr Exon Orf15 Causes Photoreceptor Degeneration And Inner Retina Remodeling In A Model Of X-Linked Retinitis Pigmentosa, William A. Beltran, Pamela Hammond, Gregory M. Acland, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
purpose. To characterize the course of retinal disease in X-linked progressive retinal atrophy 2 (XLPRA2), a canine model of early onset X-linked retinitis pigmentosa (XLRP) caused by a two-nucleotide microdeletion in RPGR ORF15.
methods. The retinas of 25 XLPRA2-affected dogs (age range, 2–40.6 weeks) and age-matched control subjects were collected, fixed, and embedded in epoxy resin for morphologic evaluation or in optimal cutting temperature (OCT) medium for TUNEL assay and immunohistochemistry. Cell-specific antibodies were used to examine changes in rods and cones and to evaluate the effects of the primary photoreceptor degeneration on inner retinal cells.
results. Abnormal development of …
Linkage Mapping Of Canine Rod Cone Dysplasia Type 2 (Rcd2) To Cfa7, The Canine Orthologue Of Human 1q32, Anna Kukekova, Jacquelyn Nelson, R W. Kuchtey, Jennifer K. Lowe, Jennifer L. Johnson, Elaine A. Ostrander, Gustavo D. Aguirre, Gregory M. Acland
Feb 2006
Linkage Mapping Of Canine Rod Cone Dysplasia Type 2 (Rcd2) To Cfa7, The Canine Orthologue Of Human 1q32, Anna Kukekova, Jacquelyn Nelson, R W. Kuchtey, Jennifer K. Lowe, Jennifer L. Johnson, Elaine A. Ostrander, Gustavo D. Aguirre, Gregory M. Acland
Gustavo D. Aguirre, VMD, PhD
purpose. To map the canine rcd2 retinal degeneration locus. Rod–cone dysplasia type 2 (rcd2), an early-onset autosomal recessive form of progressive retinal atrophy (PRA), is phenotypically similar to early-onset forms of retinitis pigmentosa collectively termed Leber congenital amaurosis and segregates naturally in the collie breed of dog. Multiple genes have previously been evaluated as candidates for rcd2, but all have been excluded.
methods. A set of informative experimental pedigrees segregating the rcd2phenotype was produced. A genome-wide scan of these pedigrees using a set of 241 markers was undertaken. To refine the localized homology between canine and human maps, …
