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Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil

Canine Degenerative Myelopathy is a late onset recessive autosomal disease characterized by a progressive ascending degeneration of the spinal cord. Two causal mutations are associated with this disease: a transition (c.118G>A) in exon 2 of the SOD1 that was described in several breeds and a tran...

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Autores principales: Santos, Cássia Regina Oliveira, Gouveia, João José de Simoni, Gouveia, Gisele Veneroni, Bezerra, Flávia Caroline Moreira, Nogueira, Joel Fonseca, Baraúna Júnior, Durval
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7668602/
https://www.ncbi.nlm.nih.gov/pubmed/33196688
http://dx.doi.org/10.1371/journal.pone.0242347
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author Santos, Cássia Regina Oliveira
Gouveia, João José de Simoni
Gouveia, Gisele Veneroni
Bezerra, Flávia Caroline Moreira
Nogueira, Joel Fonseca
Baraúna Júnior, Durval
author_facet Santos, Cássia Regina Oliveira
Gouveia, João José de Simoni
Gouveia, Gisele Veneroni
Bezerra, Flávia Caroline Moreira
Nogueira, Joel Fonseca
Baraúna Júnior, Durval
author_sort Santos, Cássia Regina Oliveira
collection PubMed
description Canine Degenerative Myelopathy is a late onset recessive autosomal disease characterized by a progressive ascending degeneration of the spinal cord. Two causal mutations are associated with this disease: a transition (c.118G>A) in exon 2 of the SOD1 that was described in several breeds and a transversion (c.52A>T) in exon 1 of the same gene described in Bernese Mountain dogs. The aim of this study was to understand the impact of the SOD1:c.118G > A mutation by genotyping a population of German Shepherd dogs in Brazil. A PCR-RFLP approach was used to genotype 97 healthy individuals belonging from the Northeast (Bahia and Pernambuco states) and South (Santa Catarina state) regions of Brazil. A total of 95 individuals were successfully genotyped resulting in an observed genotype frequency (with 95% confidence interval) of: 0.758 (0.672–0.844), 0.242 (0.156–0.328) and 0.000 (0.000–0.000) for “GG”, “AG” and “AA” genotypes, respectively. To our knowledge, this is the first attempt to describe the presence of the “A” allele associated with CDM (SOD1:c.118G > A) in German Shepherd dogs in Brazil and, as such, these results contribute toward important epidemiological data in this country and to the knowledge of the distribution of the aforementioned mutation worldwide.
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spelling pubmed-76686022020-11-19 Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil Santos, Cássia Regina Oliveira Gouveia, João José de Simoni Gouveia, Gisele Veneroni Bezerra, Flávia Caroline Moreira Nogueira, Joel Fonseca Baraúna Júnior, Durval PLoS One Research Article Canine Degenerative Myelopathy is a late onset recessive autosomal disease characterized by a progressive ascending degeneration of the spinal cord. Two causal mutations are associated with this disease: a transition (c.118G>A) in exon 2 of the SOD1 that was described in several breeds and a transversion (c.52A>T) in exon 1 of the same gene described in Bernese Mountain dogs. The aim of this study was to understand the impact of the SOD1:c.118G > A mutation by genotyping a population of German Shepherd dogs in Brazil. A PCR-RFLP approach was used to genotype 97 healthy individuals belonging from the Northeast (Bahia and Pernambuco states) and South (Santa Catarina state) regions of Brazil. A total of 95 individuals were successfully genotyped resulting in an observed genotype frequency (with 95% confidence interval) of: 0.758 (0.672–0.844), 0.242 (0.156–0.328) and 0.000 (0.000–0.000) for “GG”, “AG” and “AA” genotypes, respectively. To our knowledge, this is the first attempt to describe the presence of the “A” allele associated with CDM (SOD1:c.118G > A) in German Shepherd dogs in Brazil and, as such, these results contribute toward important epidemiological data in this country and to the knowledge of the distribution of the aforementioned mutation worldwide. Public Library of Science 2020-11-16 /pmc/articles/PMC7668602/ /pubmed/33196688 http://dx.doi.org/10.1371/journal.pone.0242347 Text en © 2020 Santos et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Santos, Cássia Regina Oliveira
Gouveia, João José de Simoni
Gouveia, Gisele Veneroni
Bezerra, Flávia Caroline Moreira
Nogueira, Joel Fonseca
Baraúna Júnior, Durval
Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil
title Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil
title_full Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil
title_fullStr Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil
title_full_unstemmed Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil
title_short Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil
title_sort molecular screening for the mutation associated with canine degenerative myelopathy (sod1:c.118g > a) in german shepherd dogs in brazil
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7668602/
https://www.ncbi.nlm.nih.gov/pubmed/33196688
http://dx.doi.org/10.1371/journal.pone.0242347
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