Timp-1 Expression Is Increased In X-Linked Progressive Retinal Atrophy Despite Its Exclusion As A Candidate Gene, Caroline Zeiss, Gregory M. Acland, Gustavo D. Aguirre, Kunal Ray
Dec 1998
Timp-1 Expression Is Increased In X-Linked Progressive Retinal Atrophy Despite Its Exclusion As A Candidate Gene, Caroline Zeiss, Gregory M. Acland, Gustavo D. Aguirre, Kunal Ray
Gustavo D. Aguirre, VMD, PhD
X-linked progressive retinal atrophy (XLPRA) is the only known natural animal model for X-linked retinitis pigmentosa (XLRP), a blinding disorder in man. The tissue inhibitor metalloproteinase 1 gene (TIMP-1), present in close proximity to one of the two XLRPloci, was tested as a candidate for XLPRA, by first characterizing the cDNA and gene from a normal dog. The cloned canine TIMP-1 cDNA is predicted to encode a protein of 207 amino acids with 66–83% identity in the deduced aa sequence with homologous mammalian genes. No sequence difference in the coding sequence of …
Canine Cone Transducin-Gamma Gene And Cone Degeneration In The Cd Dog, Gustavo D. Aguirre
Aug 1998
Canine Cone Transducin-Gamma Gene And Cone Degeneration In The Cd Dog, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
Purpose: To characterize the cDNA and the organization of the gene encoding the cone-specific gamma subunit of transducin (Tgamma c) and to examine this gene as a candidate for the recessively inherited cone photoreceptor degeneration in the cd dog.
Methods: Canine Tgamma c cDNA was cloned and sequenced. Polymerase chain reaction (PCR) was used to define the Tgamma c gene structure, northern blot analysis to examine the level of expression of Tgamma c mRNA in control and cd-affected retinas, and immunocytochemistry to determine the presence and localization of Tgamma c in normal and cd retinas.
Results: Immunocytochemical results showed Tgamma …
Identification Of A Rapd Marker Linked To Progressive Rod-Cone Degeneration In Dogs, Weikuan Gu, Gregory M. Acland, Amelia A. Langston, Elaine A. Ostrander, Gustavo D. Aguirre, Kunal Ray
Aug 1998
Identification Of A Rapd Marker Linked To Progressive Rod-Cone Degeneration In Dogs, Weikuan Gu, Gregory M. Acland, Amelia A. Langston, Elaine A. Ostrander, Gustavo D. Aguirre, Kunal Ray
Gustavo D. Aguirre, VMD, PhD
Random amplified polymorphic DNA (RAPD) analysis has been used widely in plant and fungi for identification of markers linked to genetic traits and mapping, but its use is limited to identification of intra- and inter-species difference in domestic mammals. We report here identification of a RAPD-derived marker linked to progressive rod-cone degeneration (prcd), an inherited autosomal recessive retinal disease of dogs. A total of 400 standard 10-mer primers were used for amplification by use of DNA samples from normal (+/+) and affected (prcd/prcd) dogs. A single primer was identified which amplified a 1.5-kb DNA fragment only from normal dogs. PCR …
Characterization Of Canine Photoreceptor Phosducin Cdna And Identification Of A Sequence Variant In Dogs With Photoreceptor Dysplasia, Qi Zhang, Gregory M. Acland, Charles J. Parhsall, Jeanette Haskell, Kunal Ray, Gustavo D. Aguirre
Jul 1998
Characterization Of Canine Photoreceptor Phosducin Cdna And Identification Of A Sequence Variant In Dogs With Photoreceptor Dysplasia, Qi Zhang, Gregory M. Acland, Charles J. Parhsall, Jeanette Haskell, Kunal Ray, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
Photoreceptor dysplasia (pd) is an autosomal recessive disease of miniature schnauzer dogs causing retinal degeneration. The disease is a homologue of retinitis pigmentosa, a group of genetically heterogeneous diseases, causing blindness in humans. A subtraction library was prepared from retinas of pd affected and age-matched normal control dogs to isolate de novo candidate genes for further examination. From the subtraction library, cDNA for phosducin (PDC), a member of the phototransduction pathway, was isolated as a transcript expressed at a higher level in the affected retina. First, the normal canine PDC cDNA was characterized to evaluate the PDC gene …
Cloning Of The Canine Β-Glucuronidase Cdna, Mutation Identification In Canine Mps Vii, And Retroviral Vector-Mediated Correction Of Mps Vii Cells, Jharna Ray, Alain Bouvet, Christopher Desanto, John Fyfe, Danbin Xu, John Wolfe, Gustavo Aguirre, Donald Patterson, Mark Haskins, Paula Henthorn
Feb 1998
Cloning Of The Canine Β-Glucuronidase Cdna, Mutation Identification In Canine Mps Vii, And Retroviral Vector-Mediated Correction Of Mps Vii Cells, Jharna Ray, Alain Bouvet, Christopher Desanto, John Fyfe, Danbin Xu, John Wolfe, Gustavo Aguirre, Donald Patterson, Mark Haskins, Paula Henthorn
Gustavo D. Aguirre, VMD, PhD
Mucopolysaccharidosis type VII (MPS VII) is an inherited disease resulting from deficient activity of the lysosomal acid hydrolase β-glucuronidase (GUSB) and has been reported in humans, mice, cats, and dogs. To characterize canine MPS VII, we have isolated and sequenced the canine GUSB cDNA from normal and affected animals. A single nucleotide substitution was detected in the GUSB cDNA derived from MPS VII dogs. This guanosine to adenine base change at nucleotide position 559 in the canine cDNA sequence causes an arginine to histidine substitution at amino acid position 166. Introduction of the G to A substitution at position 559 …
