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Association between population structure and allele frequencies of the glycogen synthase 1 mutation in the Austrian Noriker draft horse.
Journal article

Association between population structure and allele frequencies of the glycogen synthase 1 mutation in the Austrian Noriker draft horse.

  • Druml T Institute of Animal Breeding and Genetics, University of Veterinary Sciences Vienna, Veterinärplatz 1, Vienna, A-1210, Austria.
  • Grilz-Seger G Pöckau 41, A-9601, Arnoldstein, Austria.
  • Neuditschko M Agroscope, Swiss National Stud Farm, Les Longs Prés, CH-1580, Avenches, Switzerland.
  • Brem G Institute of Animal Breeding and Genetics, University of Veterinary Sciences Vienna, Veterinärplatz 1, Vienna, A-1210, Austria.
  • 2016-08-02
Published in:
  • Animal genetics. - 2017
GYS1 gene
Noriker horse
coat colour
genetic substructures
inbreeding
polysaccharide storage myopathy
Alleles
Animals
Austria
Breeding
Female
Gene Frequency
Genetic Predisposition to Disease
Genetics, Population
Genotype
Glycogen Synthase
Hair Color
Heterozygote
Homozygote
Horse Diseases
Horses
Inbreeding
Male
Muscular Diseases
Mutation
Pedigree
English The aim of this study was to determine the allele frequency of the glycogen synthase 1 (GYS1) mutation associated with polysaccharide storage myopathy type 1 in the Austrian Noriker horse. Furthermore, we examined the influence of population substructures on the allele distribution. The study was based upon a comprehensive population sample (208 breeding stallions and 309 mares) and a complete cohort of unselected offspring from the year 2014 (1553 foals). The mean proportion of GYS1 carrier animals in the foal cohort was 33%, ranging from 15% to 50% according to population substructures based on coat colours. In 517 mature breeding horses the mutation carrier frequency reached 34%, ranging on a wider scale from 4% to 62% within genetic substructures. We could show that the occurrence of the mutated GYS1 allele is influenced by coat colour; genetic bottlenecks; and assortative, rotating and random mating strategies. Highest GYS1 carrier frequencies were observed in the chestnut sample comprising 50% in foals, 54% in mares and 62% in breeding stallions. The mean inbreeding of homozygous carrier animals reached 4.10%, whereas non-carrier horses were characterized by an inbreeding coefficient of 3.48%. Lowest GYS1 carrier frequencies were observed in the leopard spotted Noriker subpopulation. Here the mean carrier frequency reached 15% in foals, 17% in mares and 4% in stallions and inbreeding decreased from 3.28% in homozygous non-carrier horses to 2.70% in heterozygous horses and 0.94% in homozygous carriers. This study illustrates that lineage breeding and specified mating strategies result in genetic substructures, which affect the frequencies of the GYS1 gene mutation.
Language
  • English
Open access status
closed
Identifiers
Persistent URL
https://sonar.ch/global/documents/93189
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