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. and Hamilton, R.M. (2015) A pedigree-based genetic appraisal of Boxer ARVC and the role of the striatin mutation. Veterinary Record, 176(19), 492. (doi: 10.1136/vr.102821) (PMID:25661582) (PMCID:25661582)

Abstract

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.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Wotton, Dr Paul
• Authors: Cattanach, B.M., Dukes-McEwan, J., Wotton, P.R., Stephenson, H.M., and Hamilton, R.M.
• College/School: College of Medical Veterinary and Life Sciences > School of Biodiversity, One Health & Veterinary Medicine
• Journal Name: Veterinary Record
• Publisher: B M J Group
• ISSN: 0042-4900
• ISSN (Online): 2042-7670
• Copyright Holders: Copyright © 2015 The Authors
• First Published: First published in Veterinary Record 176(19):492
• Publisher Policy: Reproduced under a Creative Commons License