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A pedigree-based genetic appraisal of Boxer ARVC and the role of the Striatin mutation

The objective of this paper was to investigate by pedigree-based genetic means the origins and inheritance of arrhythmogenic right ventricular cardiomyopathy (ARVC) in UK Boxers and assess the role of the proposed causal mutation in the gene, Striatin (STRN). All ARVC cases traced back to a small nu...

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Autores principales: Cattanach, B. M., Dukes-McEwan, J., Wotton, P. R., Stephenson, H. M., Hamilton, R. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4433500/
https://www.ncbi.nlm.nih.gov/pubmed/25661582
http://dx.doi.org/10.1136/vr.102821
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author Cattanach, B. M.
Dukes-McEwan, J.
Wotton, P. R.
Stephenson, H. M.
Hamilton, R. M.
author_facet Cattanach, B. M.
Dukes-McEwan, J.
Wotton, P. R.
Stephenson, H. M.
Hamilton, R. M.
author_sort Cattanach, B. M.
collection PubMed
description The objective of this paper was to investigate by pedigree-based genetic means the origins and inheritance of arrhythmogenic right ventricular cardiomyopathy (ARVC) in UK Boxers and assess the role of the proposed causal mutation in the gene, Striatin (STRN). All ARVC cases traced back to a small number of imported American dogs deriving from the group of Boxers studied by Harpster (1983) to define the disease, strongly suggesting that the disease is the same in the two countries. Dogs with and without the STRN mutation were found in both ARVC affected and normal Boxers showing that the mutation is not responsible for the disease. Evidence was found that the STRN mutation is, however, genetically linked with the gene responsible on the same chromosome. The linkage implies that the two genes can separate by meiotic recombination such that both ARVC-affected and ARVC-unaffected lines of dogs may carry either the STRN mutation or its wild-type allele. These have been found. Homozygotes for the STRN mutation tended to be severely affected at early ages, suggesting that there is an interaction between the known effects of the STRN mutation on the cardiomyocyte and ARVC.
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spelling pubmed-44335002015-07-24 A pedigree-based genetic appraisal of Boxer ARVC and the role of the Striatin mutation Cattanach, B. M. Dukes-McEwan, J. Wotton, P. R. Stephenson, H. M. Hamilton, R. M. Vet Rec Research The objective of this paper was to investigate by pedigree-based genetic means the origins and inheritance of arrhythmogenic right ventricular cardiomyopathy (ARVC) in UK Boxers and assess the role of the proposed causal mutation in the gene, Striatin (STRN). All ARVC cases traced back to a small number of imported American dogs deriving from the group of Boxers studied by Harpster (1983) to define the disease, strongly suggesting that the disease is the same in the two countries. Dogs with and without the STRN mutation were found in both ARVC affected and normal Boxers showing that the mutation is not responsible for the disease. Evidence was found that the STRN mutation is, however, genetically linked with the gene responsible on the same chromosome. The linkage implies that the two genes can separate by meiotic recombination such that both ARVC-affected and ARVC-unaffected lines of dogs may carry either the STRN mutation or its wild-type allele. These have been found. Homozygotes for the STRN mutation tended to be severely affected at early ages, suggesting that there is an interaction between the known effects of the STRN mutation on the cardiomyocyte and ARVC. BMJ Publishing Group 2015-05-09 2015-02-06 /pmc/articles/PMC4433500/ /pubmed/25661582 http://dx.doi.org/10.1136/vr.102821 Text en British Veterinary Association This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/
spellingShingle Research
Cattanach, B. M.
Dukes-McEwan, J.
Wotton, P. R.
Stephenson, H. M.
Hamilton, R. M.
A pedigree-based genetic appraisal of Boxer ARVC and the role of the Striatin mutation
title A pedigree-based genetic appraisal of Boxer ARVC and the role of the Striatin mutation
title_full A pedigree-based genetic appraisal of Boxer ARVC and the role of the Striatin mutation
title_fullStr A pedigree-based genetic appraisal of Boxer ARVC and the role of the Striatin mutation
title_full_unstemmed A pedigree-based genetic appraisal of Boxer ARVC and the role of the Striatin mutation
title_short A pedigree-based genetic appraisal of Boxer ARVC and the role of the Striatin mutation
title_sort pedigree-based genetic appraisal of boxer arvc and the role of the striatin mutation
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4433500/
https://www.ncbi.nlm.nih.gov/pubmed/25661582
http://dx.doi.org/10.1136/vr.102821
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