A genetic study of a SOD1 missense mutation in Czechoslovakian Wolfdog

Daniela Jakabová,Martin Genčík,Patrícia Chlebovcová

doi:10.15414/afz.2016.19.si.111-113

Abstract

Canine degenerative myelopathy occurs in many dog breeds, mainly German Shepherd dogs. The causative mutation E40K in the SOD1 gene changes the structure and function of the superoxide dismutase 1 protein. The Czechoslovakian Wolfdog is an unique dog breed, that resulted from hybridization between Carpathian wolves and German Shepherds in the 1950s. Its genetic composition shows a higher proportion of the dog genome than wolf genome (SmetanovÃ¡ et al., 2015). In the present study we have screened the Czechoslovakian Wolfdog population for the causative degenerative myelopathy mutation E40K in order to estimate its prevalence in Slovakia. Our study confirmed that the frequency of the E40K missense mutation (0,25) is relatively high and genetic testing is important in breeding programs.

Highlights

Canine degenerative myelopathy (DM) is a progressive and devastating neurodegenerative disease causing progressive paralysis
Genetic studies in familial canine degenerative myelopathy detected the association between the disease and mutation in the superoxide dismutase 1 (SOD1) gene (Holder et al.,2014)
A total of 54 individuals of Czechoslovakian Wolfdogs breed from Slovakia were genotyped for the causal mutation E40K in the SOD1 gene: 23 individuals (0.375) were heterozygotes A/G, 29 dogs were homozygotes G/G (0.5625) for the ancestral allele G and 2 dogs were homozygous A/A (0.0625) for the mutant A allele (Figure 1)

Summary

Introduction

Canine degenerative myelopathy (DM) is a progressive and devastating neurodegenerative disease causing progressive paralysis. Dogs with DM show an insidiously progressive ataxia and paresis of the pelvic limbs (Capucchio et al, 2014). All affected dogs show clinical signs of DM by the age of 8 years (Holder et al, 2014). DM is an autosomal-recessive genetic disease caused by the c.118G>A (E40K) mutation in the SOD1 gene (Awano et al, 2009). The Czechoslovakian Wolfdog is an unique dog breed, that resulted from hybridization between Carpathian wolves and German Shepherds (Smetanová et al, 2015). Its genetic composition shows a higher proportion of the dog genome than wolf genome. The aim of our study was to genotype causative mutation E40K in the Czechoslovakian Wolfdog population in Slovakia

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