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 …
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 …
Differential Expression Of Photoreceptor-Specific Proteins During Disease And Degeneration In The Progressive Rod-Cone Degeneration (Prcd) Retina, Kathryn Gropp, Jun Huang, Gustavo Aguirre
May 1997
Differential Expression Of Photoreceptor-Specific Proteins During Disease And Degeneration In The Progressive Rod-Cone Degeneration (Prcd) Retina, Kathryn Gropp, Jun Huang, Gustavo Aguirre
Gustavo D. Aguirre, VMD, PhD
Progressive rod-cone degeneration (prcd) is a late-onset hereditary retinal degeneration characterized by normal development of photoreceptors prior to degeneration and death of visual cells. We reported previously that expression of opsin mRNA and protein decreases prior to visual cell degeneration. To examine the specificity of this reduction, we have used immunocytochemistry to correlate photoreceptor-specific protein expression with visual cell disease progression. Eyes from light-adapted age-matched control andprcd-affected dogs were fixed in paraformaldehyde, embedded in diethylene glycol distearate (DGD) wax, and reacted with antibodies specific to interphotoreceptor retinoid-binding protein (IRBP), S-antigen, opsin, phosducin, γ-phosphodiesterase (γ-PDE), and β1-transducin. While IRBP expression did …
Selective Absence Of Cone Outer Segment Β3-Transducin Immunoreactivity In Hereditary Cone Degeneration (Cd), Kathryn Gropp, A. Széll, Jun Huang, Gregory Acland, Debora Farber, Gustavo Aguirre
Aug 1996
Selective Absence Of Cone Outer Segment Β3-Transducin Immunoreactivity In Hereditary Cone Degeneration (Cd), Kathryn Gropp, A. Széll, Jun Huang, Gregory Acland, Debora Farber, Gustavo Aguirre
Gustavo D. Aguirre, VMD, PhD
We have used immunocytochemistry and in situ hybridization to examine the expression of photoreceptor specific genes in retinas of normal dogs and those affected with hereditary cone degeneration (cd), a rare autosomal recessive disorder that selectively affects cones. In thecdretina, cone disease begins early in life; cones are lost by extrusion of the nucleus into the inner segment, and later, by displacement of the nucleus, surrounded by a thin rim of cytoplasm, into the interphotoreceptor space. Two micrometer sections from the superior and inferior retinal meridians, extending from the optic disk to the ora serrata, were used for in situ …
Β-Glucuronidase Mediated Pathway Essential For Retinal Pigment Epithelial Degradation Of Glycosaminoglycans. Disease Expression And In Vitro Disease Correction Using Retroviral Mediated Cdna Transfer, Lawrence Stramm, John Wolfe, Edward Schuchman, Mark Haskins, Donald Patterson, Gustavo Aguirre
Apr 1990
Β-Glucuronidase Mediated Pathway Essential For Retinal Pigment Epithelial Degradation Of Glycosaminoglycans. Disease Expression And In Vitro Disease Correction Using Retroviral Mediated Cdna Transfer, Lawrence Stramm, John Wolfe, Edward Schuchman, Mark Haskins, Donald Patterson, Gustavo Aguirre
Gustavo D. Aguirre, VMD, PhD
A β-glucuronidase mediated pathway for the degradation of glycosaminoglycans is present in the retinal pigment epithelium. The pathway has been defined using ocular tissues and cultured cells from mutant animals having a recessively inherited deficiency of the lysosomal enzyme. In situ, storage products accumulate in secondary lysosomes of the retinal pigment epithelium, the cytoplasm fills with inclusions and the cells hypertrophy; severity of the disease increases with aging. Deficient activity of β-glucuronidase is present in primary and second passage cultures. Radiolabel studies with 35SO4 show a significant retention of cell layer label by mutant retinal pigment epithelial cells …
Segregation Distortion In Inheritance Of Progressive Rod Cone Degeneration (Prcd) In Miniature Poodle Dogs, Gregory M. Acland, Susan Halloran-Blanton, Joann A. Boughman, Gustavo D. Aguirre
Feb 1990
Segregation Distortion In Inheritance Of Progressive Rod Cone Degeneration (Prcd) In Miniature Poodle Dogs, Gregory M. Acland, Susan Halloran-Blanton, Joann A. Boughman, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
Segregation distortion was observed in inheritance of progressive rod–cone degeneration (prcd) in a colony of Miniature Poodle dogs. Breeding results, from both retrospective records and prospectively planned matings, were classified into five mating types: (1) affected to affected, (2) homozygous normal sire to any dam, (3) heterozygous to heterozygous, (4) heterozygous sire to affected dam, and (5) affected sire to heterozygous dam. For all but the last category, results were in accord with mendelian expectations for autosomal-recessive inheritance. However, litters of mating type 5 had fewer affected pups (20/77) than expected. The observed segregation ratio for this mating type (0.26) …
