Retinal Histopathology Of An Xlrp Carrier With A Mutation In The Rpgr Exon Orf15, Gustavo Aguirre, Beverly Yashar, Sinoj John, Julie Smith, K Breuer, S Hiriyanna, Anand Swaroop, Ann Milam
Sep 2002
Retinal Histopathology Of An Xlrp Carrier With A Mutation In The Rpgr Exon Orf15, Gustavo Aguirre, Beverly Yashar, Sinoj John, Julie Smith, K Breuer, S Hiriyanna, Anand Swaroop, Ann Milam
Gustavo D. Aguirre, VMD, PhD
X-linked retinitis pigmentosa comprises the severe forms of RP, with early onset of night blindness, rapid constriction of visual fields and eventual loss of central acuity. Of the five distinct XLRP loci identified on the X chromosome, mutations have been found only in theRP2 and RPGR genes. Of these, mutations in RPGR are more common, particularly in a mutational hot spot that was identified in the newly discovered exon ORF15. We report on an extended family with a microdeletion in RPGR exon ORF15 and the retinalhistopathology of a female carrier of this mutation. We found a 1 bp …
Molecular Cloning, Characterization And Expression Of A Novel Retinal Clusterin-Like Protein Cdna, Qi Zhang, Kunal Ray, Gregory M. Acland, Jill M. Czarnecki, Gustavo D. Aguirre
Jan 2000
Molecular Cloning, Characterization And Expression Of A Novel Retinal Clusterin-Like Protein Cdna, Qi Zhang, Kunal Ray, Gregory M. Acland, Jill M. Czarnecki, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
A novel gene expressed predominantly in retina, but detected at a conspicuously lower level in retina of canine progressive rod cone degeneration (prcd), has been identified by suppression subtractive hybridization and retinal cDNA library screening. The characterized region of cDNA of the novel gene includes 1017 nucleotides of coding sequence predicted to encode a protein of 338 amino acids (Mr 39 389), 791 nucleotides of 5′-untranslated region (UTR), and 300 nucleotides of 3′-UTR including the poly(A)+ tail. Multiple transcripts were detected in retina by Northern blot analysis, and a lower level of expression was observed in …
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 …
Canine Rod Photoreceptor Cgmp-Gated Channel Protein Α-Subunit: Studies On The Expression Of The Gene And Characterization Of The Cdna, Qi Zhang, Sue Pearce-Kelling, Gregory Acland, Gustavo Aguirre, Kunal Ray
Jul 1997
Canine Rod Photoreceptor Cgmp-Gated Channel Protein Α-Subunit: Studies On The Expression Of The Gene And Characterization Of The Cdna, Qi Zhang, Sue Pearce-Kelling, Gregory Acland, Gustavo Aguirre, Kunal Ray
Gustavo D. Aguirre, VMD, PhD
Rod photoreceptor cyclic GMP gated-channel protein is a key component of the visual transduction cascade in the vertebrate retina. The protein is composed of at least two subunits (α and β). Mutations in the α-subunit (CNGC1) have been shown to cause retinitis pigmentosa (RP) in humans. Several heterogeneous canine retinal diseases, which are clinically similar to RP, are known collectively as progressive retinal atrophy (PRA) and occur in dogs in a breed-specific manner. For the purpose of examining CNGC1 gene as a candidate for PRA, we report here the characterization of canine CNGC1 cDNA, and examine the expression of the …
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 …
An Improved Diagnostic Test For Rod Cone Dysplasia 1 (Rcdl) Using Allele-Specific Polymerase Chain Reaction, Kunal Ray, Maria Lara Tejero, Victoria Baldwin, Gustavo Aguirre
Dec 1995
An Improved Diagnostic Test For Rod Cone Dysplasia 1 (Rcdl) Using Allele-Specific Polymerase Chain Reaction, Kunal Ray, Maria Lara Tejero, Victoria Baldwin, Gustavo Aguirre
Gustavo D. Aguirre, VMD, PhD
Purpose. To develop an improved diagnostic test for rod-cone dysplasia type 1 (rcdl). The rcdl phenotype is an early onset, autosomal recessive disease caused by a mutation in the canine rod cyclic GMP phosphodiesterase (β-subunit (PDE6B) gene. A G to A transition in codon 807 at nucleotide position 2420 results in a stop codon. This is the only disease causing mutation detected so far in the canine PDE6B gene.
Methods. Allele specific primers were designed in which the 3' end had the nucleotide corresponding to either the wild type or the mutant rcdl allele. PCR was …
Plasma Lipid Changes In Prcd-Affected And Normal Miniature Poodles Given Oral Supplements Of Linseed Oil. Indications For The Involvement Of N-3 Fatty Acids In Inherited Retinal Degenerations, Robert E. Anderson, Maureen B. Maude, Gregory M. Acland, Gustavo D. Aguirre
Jan 1994
Plasma Lipid Changes In Prcd-Affected And Normal Miniature Poodles Given Oral Supplements Of Linseed Oil. Indications For The Involvement Of N-3 Fatty Acids In Inherited Retinal Degenerations, Robert E. Anderson, Maureen B. Maude, Gregory M. Acland, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
It has previously been shown that miniature poodles with regressive rod-cone degeneration (PRCD) have lower plasma levels of docosahexaenoic acid (22:6n-3) than normal poodles and it has been suggested that affected animals have a defect in the motabolism of 22:6n-3. To test this hypothesis in vivo, PRCD affected and normal miniature poodles were given daily oral supplements of linsee oil (enriched in 19:3n-3, 20:5n-3, and 22:5n-3 between affected and normal dogs. Therefore, there appears to be no abnormality in the elongation and desaturation system that takes 18:3n-3 and 22:5n-3. Surprisingly, the plasma level of 22:6n-3 was reduced in both groups …
The Cone Matrix Sheath In The Normal And Diseased Retina: Cytochemical And Biochemical Studies Of Peanut Agglutinin-Binding Proteins In Cone And Rod-Cone Degeneration, Kenneth Long, Gustavo Aguirre
May 1991
The Cone Matrix Sheath In The Normal And Diseased Retina: Cytochemical And Biochemical Studies Of Peanut Agglutinin-Binding Proteins In Cone And Rod-Cone Degeneration, Kenneth Long, Gustavo Aguirre
Gustavo D. Aguirre, VMD, PhD
The fate of the cone-associated extracellular domain, or cone matrix sheath (CMS), was examined in two canine models of hereditary retinal degeneration. The diseases, which affect cones selectively (cd = cone degeneration), or rods and cones temporally (prcd = progressive rod-cone degeneration), were examined biochemically (SDS-PAGE/lectinblots) and cytochemically (light microscopy) using peanut agglutinin lectin (PNA) to selectively label this domain and associated structures. Most of the cones had disappeared in the adult cd retina. In the remaining cones, PNA labeled the ectopically located somata and the CMSs that were present around severely diseased ones. …
Experimental Eye Research Volume 35, Issue 6, December 1982, Pages 625–642 Cover Image Retinal Degenerations In The Dog Iii Abnormal Cyclic Nucleotide Metabolism In Rod-Cone Dysplasia, Gustavo Aguirre, Debora Farber, Richard Lolley, Paul O'Brien, James Alligood, R Fletcher
Nov 1982
Experimental Eye Research Volume 35, Issue 6, December 1982, Pages 625–642 Cover Image Retinal Degenerations In The Dog Iii Abnormal Cyclic Nucleotide Metabolism In Rod-Cone Dysplasia, Gustavo Aguirre, Debora Farber, Richard Lolley, Paul O'Brien, James Alligood, R Fletcher
Gustavo D. Aguirre, VMD, PhD
In dogs bred to develop rod-cone dysplasia, retinal development is normal until 13 days of age.Afterwards, there is an arrest of visual cell differentiation. Rod inner segments remain diminutive and outer segments fail to elongate as in controls; the outer segments show lamellar disorientation and disorganization. Affected visual cells degenerate, but the degeneration process is more rapid and extensive for rods than cones.
Cyclic GMP levels become elevated in affected retinas early during the postnatal differentiation of visual cells; this elevation precedes any morphological evidence of photoreceptor disease. Retinal protein synthesis is normal during the time that retinal cGMP levels …
