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A pedigree-based genetic appraisal of Boxer ARVC and the role of the Striatin mutation
  1. B. M. Cattanach, BSc, PhD, DSc, FRS1,
  2. J. Dukes-McEwan, BVMS, MVM, DVC, PhD, DipECVIM-CA, MRCVS2,
  3. P. R. Wotton, BVSc, PhD, DVC, MRCVS3,
  4. H. M. Stephenson, BVMS, CertSAM, DipECVIM-CA, MRCVS2,4 and
  5. R. M. Hamilton, MD, FRCPC, MHscCHE, CCDS5
  1. 1MRC Mammalian Genetics Unit, Harwell Science and Innovation Campus, Oxfordshire OX11 0RD, UK
  2. 2University of Liverpool Small Animal Teaching Hospital, Leahurst, Chester High Road, Neston CH64 7TE, UK
  3. 3University of Glasgow School of Veterinary Medicine, Bearsden Road, Glasgow G61 1QH, UK
  4. 4HS Cardiology Ltd, Barnfield Farm, Tunstall, Carnforth LA6 2RU, UK
  5. 5The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
  1. E-mails for correspondence: bcattanach{at}steynmere.freeserve.co.uk

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.

  • Cardiomyopathy
  • Genetics
  • Dogs

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/

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