Comparative Analysis And Expression Of Clul1, A Cone Photoreceptor-Specific Gene, Qi Zhang, William A. Beltran, Zuohua Mao, Kui Li, Jennifer L. Johnson, Gregory M. Acland, Gustavo D. Aguirre
Sep 2003
Comparative Analysis And Expression Of Clul1, A Cone Photoreceptor-Specific Gene, Qi Zhang, William A. Beltran, Zuohua Mao, Kui Li, Jennifer L. Johnson, Gregory M. Acland, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
Purpose: To characterize CLUL1, a cone photoreceptor-specific gene.
Methods: A comparative genomics approach was used to analyze the gene organization and protein sequence of a retinal clusterin-like protein and to identify conserved elements between human and dog. Its expression was studied by Northern and Western analyses and its localization by in situ hybridization and immunocytochemistry.
Results: The CLUL1 sequences of the human and dog share 85% and 73% identity, respectively, at the nucleotide and deduced amino acid level. The gene is organized into nine exons and shows strong homology, not only in exonic but also in some intronic sequences between the species. …
Linkage Mapping Of The Primary Disease Locus For Collie Eye Anomaly, Jennifer Lowe, Anna Kukekova, Ewen Kirkness, Gustavo Aguirre, Mariela Langlois, Gregory Acland, Elaine Ostrander
Jun 2003
Linkage Mapping Of The Primary Disease Locus For Collie Eye Anomaly, Jennifer Lowe, Anna Kukekova, Ewen Kirkness, Gustavo Aguirre, Mariela Langlois, Gregory Acland, Elaine Ostrander
Gustavo D. Aguirre, VMD, PhD
Collie eye anomaly (cea) is a hereditary ocular disorder affecting development of the choroid and sclera segregating in several breeds of dog, including rough, smooth, and Border collies and Australian shepherds. The disease is reminiscent of the choroidal hypoplasia phenotype observed in humans in conjunction with craniofacial or renal abnormalities. In dogs, however, the clinical phenotype can vary significantly; many dogs exhibit no obvious clinical consequences and retain apparently normal vision throughout life, while severely affected animals develop secondary retinal detachment, intraocular hemorrhage, and blindness. We report genetic studies establishing that the primary ceaphenotype, choroidal hypoplasia, segregates …
Radiation Hybrid Map, Physical Map, And Low-Pass Genomic Sequence Of The Canine Prcd Region On Cfa9 And Comparative Mapping With The Syntenic Region On Human Chromosome 17 ☆, Duska Sidjanin, B Miller, J. W. Kijas, J Mcelwee, Jarek Pillardy, J Malek, G Pai, Tamara Feldblyum, C Fraser, Gregory Acland, Gustavo Aguirre
Jan 2003
Radiation Hybrid Map, Physical Map, And Low-Pass Genomic Sequence Of The Canine Prcd Region On Cfa9 And Comparative Mapping With The Syntenic Region On Human Chromosome 17 ☆, Duska Sidjanin, B Miller, J. W. Kijas, J Mcelwee, Jarek Pillardy, J Malek, G Pai, Tamara Feldblyum, C Fraser, Gregory Acland, Gustavo Aguirre
Gustavo D. Aguirre, VMD, PhD
Progressive rod–cone degeneration (prcd) is a canine retinal disease that maps to the centromeric end of CFA9 in a region of synteny with the distal part of HSA17q. As such,prcd has been postulated as the only animal model of RP17, a human retinitis pigmentosa locus that maps to 17q22. In an effort to establish more detailed regions of synteny between dog CFA9 and the HSA17q–ter region, we created a robust gene-enriched CFA9-RH083000 map with 34 gene-based markers and 12 microsatellites, with the highest resolution and number of markers for the centromeric end of CFA9. Furthermore, we …
Comparative Analysis, Gene Organization And Expression Of Canine Tcte1l, Kui Li, Qi Zhang, Jennifer L. Johnson, Gustavo D. Aguirre
Dec 2002
Comparative Analysis, Gene Organization And Expression Of Canine Tcte1l, Kui Li, Qi Zhang, Jennifer L. Johnson, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
The murine t-complex-associated testis-expressed 1-like gene (TCTE1L) of the dog was cloned, characterized, and compared to the human ortholog. The characterized region of cDNA includes 351 bp of coding sequence which encodes a protein of 116 amino acids. The canine gene, spanning about 8.5 kb sequence, consists of 5 exons, with the initiation and stop codons found in the first and last exons, respectively. The comparative analyses reveal the evolutionarily conserved exonic and intronic regions, as well as gene flanking sequences. A 2.1 kb transcript was ubiquitously expressed in all the tissues examined, and secondarily down-expressed in the …
Canine Models Of Ocular Disease: Outcross Breedings Define A Dominant Disorder Present In The English Mastiff And Bull Mastiff Dog Breeds, J. W. Kijas, B J. Miller, Susan E. Pearce-Kelling, Gustavo D. Aguirre, Gregory M. Acland
Dec 2002
Canine Models Of Ocular Disease: Outcross Breedings Define A Dominant Disorder Present In The English Mastiff And Bull Mastiff Dog Breeds, J. W. Kijas, B J. Miller, Susan E. Pearce-Kelling, Gustavo D. Aguirre, Gregory M. Acland
Gustavo D. Aguirre, VMD, PhD
Progressive retinal atrophies (PRA) are a heterogeneous group of inherited eye diseases common to both dogs and man. Over 100 individual canine breeds display some sort of retinal degeneration, making the dog an extremely valuable resource both for finding the genetic determinants of inherited blindness and for developing naturally occurring animal models that mimic human disease. Progressive retinal atrophies within the English mastiff displayed an ambiguous mode of inheritance. By conducting outcross matings between affected English mastiffs and normal animals from other breeds, the mode of inheritance was confirmed as dominant. This directed candidate gene analysis and led to identification …
