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Genetics and Genomics

Gustavo D. Aguirre, VMD, PhD

Selected Works

Articles 1 - 7 of 7

Full-Text Articles in Medicine and Health Sciences

Recombinant Aav-Mediated Best1 Transfer To The Retinal Pigment Epithelium: Analysis Of Serotype-Dependent Retinal Effects, Karina E. Guziewicz, Barbara Zangerl, András M. Komáromy, Simone Iwabe, Vincent A. Chiodo, Sanford L. Boye, William W. Hauswirth, William Beltran, Gustavo D. Aguirre Feb 2016

Recombinant Aav-Mediated Best1 Transfer To The Retinal Pigment Epithelium: Analysis Of Serotype-Dependent Retinal Effects, Karina E. Guziewicz, Barbara Zangerl, András M. Komáromy, Simone Iwabe, Vincent A. Chiodo, Sanford L. Boye, William W. Hauswirth, William Beltran, Gustavo D. Aguirre

Gustavo D. Aguirre, VMD, PhD

Mutations in the BEST1 gene constitute an underlying cause of juvenile macular dystrophies, a group of retinal disorders commonly referred to as bestrophinopathies and usually diagnosed in early childhood or adolescence. The disease primarily affects macular and paramacular regions of the eye leading to major declines in central vision later in life. Currently, there is no cure or surgical management for BEST1-associated disorders. The recently characterized human disease counterpart, canine multifocal retinopathy (cmr), recapitulates a full spectrum of clinical and molecular features observed in human bestrophinopathies and offers a valuable model system for development and testing of therapeutic strategies. In …

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The Proto-Oncogene C-Kit Maps To Canid B-Chromosomes, Alexander S. Graphodatsky, Anna V. Kukekova, Dmitry V. Yudkin, Vladimir A. Trifonov, Nadezhda V. Vorobieva, Violetta R. Beklemisheva, Polina L. Perelman, Daria A. Graphodatskaya, Lyudmila N. Trut, Fengtang Yang, Malcolm A. Ferguson-Smith, Gregory M. Acland, Gustavo D. Aguirre Jan 2005

The Proto-Oncogene C-Kit Maps To Canid B-Chromosomes, Alexander S. Graphodatsky, Anna V. Kukekova, Dmitry V. Yudkin, Vladimir A. Trifonov, Nadezhda V. Vorobieva, Violetta R. Beklemisheva, Polina L. Perelman, Daria A. Graphodatskaya, Lyudmila N. Trut, Fengtang Yang, Malcolm A. Ferguson-Smith, Gregory M. Acland, Gustavo D. Aguirre

Gustavo D. Aguirre, VMD, PhD

Plant and animal karyotypes sometimes contain variable elements, that are referred to as additional or B-chromosomes. It is generally believed that B-chromosomes lack major genes and represent parasitic and selfish elements of a genome. Here we report, for the first time, the localization of a gene to B-chromosomes of mammals: red fox (Vulpes vulpes) and two subspecies of raccoon dog (Nyctereutes procyonoides). Identification of the proto-oncogene C-KIT on B-chromosomes of twoCanidae species that diverged from a common ancestor more than 12.5 million years ago argues against the current view of B-chromosomes. Analyses of fox B-chromosomal …

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Cloning Of Canine Γ-Tubulin (Tubg1) Cdna And Mapping To Cfa9, Duska J. Sidjanin, F Xue, J Mcelwee, Jennifer L. Johnson, C Holmgren, Cathryn S. Mellersh, Elaine A. Ostrander, Gregory M. Acland, Gustavo D. Aguirre Sep 2001

Cloning Of Canine Γ-Tubulin (Tubg1) Cdna And Mapping To Cfa9, Duska J. Sidjanin, F Xue, J Mcelwee, Jennifer L. Johnson, C Holmgren, Cathryn S. Mellersh, Elaine A. Ostrander, Gregory M. Acland, Gustavo D. Aguirre

Gustavo D. Aguirre, VMD, PhD

No abstract provided.

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Photoreceptor Dysplasia (Pd) In Miniature Schnauzer Dogs: Evaluation Of Candidate Genes By Molecular Genetic Analysis, Qi Zhang, V J. Baldwin, Gregory M. Acland, C J. Parshall, J. Haskell, Gustavo D. Aguirre, Kunal Ray Dec 1998

Photoreceptor Dysplasia (Pd) In Miniature Schnauzer Dogs: Evaluation Of Candidate Genes By Molecular Genetic Analysis, Qi Zhang, V J. Baldwin, Gregory M. Acland, C J. Parshall, J. Haskell, Gustavo D. Aguirre, Kunal Ray

Gustavo D. Aguirre, VMD, PhD

Photoreceptor dysplasia (pd) is one of a group of at least six distinct autosomal and one X-linked retinal disorders identified in dogs which are collectively known as progressive retinal atrophy (PRA). It is an early onset retinal disease identified in miniature schnauzer dogs, and pedigree analysis and breeding studies have established autosomal recessive inheritance of the disease. Using a gene-based approach, a number of retina-expressed genes, including some members of the phototransduction pathway, have been causally implicated in retinal diseases of humans and other animals. Here we examined seven such potential candidate genes (opsin, RDS/peripherin, ROM1, rod cGMP-gated cation channel …

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Overview Of The International Workshop On Canine Genetics, Gustavo D. Aguirre, Kunal Ray, Gregory M. Acland Dec 1998

Overview Of The International Workshop On Canine Genetics, Gustavo D. Aguirre, Kunal Ray, Gregory M. Acland

Gustavo D. Aguirre, VMD, PhD

No abstract provided.

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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 …

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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) …

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