ACTN3 genotype distribution across horses representing different utility types and breeds.
Abstract: In horses, the identification of the genetic background of phenotypic variation, especially with regard to performance characteristics and predisposition to effort, has been extensively studied. As α-actinin-3 function is related to the regulation of muscle contraction and cell metabolism, the ACTN3 gene is considered one of the main genetic factors determining muscle strength. The aim of the present study was to assess the genotype distribution of two SNP variants within the equine ACTN3 gene (g.1104G > A and c.2334C > T) across different utility types and horse breeds. The analyses were performed on five breeds representing horses of different types, origins and utilities according to performance (in total 877 horses): primitive (Polish koniks; Hucul horses), draught (Polish heavy draught) and light (Thoroughbred and Arabian horses). Two polymorphisms within the ACTN3 gene locus were genotyped and genotype and allele frequency were compared across populations in order to verify if the identified differences contribute to the phenotypic variation observed in horse breeds. The present study allowed confirmation of the significant differences in genotype distribution of g.1104G > A localized in the promoter region between native breeds and racehorse breeds such as Thoroughbreds and Arabians. The allele/genotype variations between primitive and light breeds confirmed that the analysed variant was under selection pressure and can be correlated with racing ability. Moreover, the significant differences for the c.2334C > T genotype frequency between Arabian horses and other breeds indicate its relationship with endurance and athletic performance. The predominance of the T allele (85%) in Arabians suggests that the T variant was favoured during selection focused on improving stamina and could be one of the genetic factors determining endurance ability. Further research is needed to confirm the association of both polymorphisms with exact racing and/or riding results.
Publication Date: 2019-08-07 PubMed ID: 31392535PubMed Central: 2913906DOI: 10.1007/s11033-019-05013-0Google Scholar: Lookup
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Summary
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The research article studies the distribution of the ACTN3 genotype, a gene associated with muscle strength, in different horse breeds and utility types. The researchers analyzed the linkage between the genotype distribution and horse performance characteristics, including racing ability and endurance.
Study Overview
- The research focused on determining the genotype distribution of two Single Nucleotide Polymorphism (SNP) variants within the equine ACTN3 gene, which affects muscle strength. The two SNP variants studied were g.1104G > A and c.2334C > T.
- The scientists carried out their analysis on 877 horses from five different breeds, each representing varied types, origins, and utilities. The horse breeds under investigation represented different performance characteristics such as strength and endurance. They included primitive breeds (like Polish Koniks and Hucul horses), draught breeds (like the Polish heavy draught), and light breeds (including Thoroughbred and Arabian horses).
Key Findings
- The research findings displayed significant differences in genotype distribution of the g.1104G > A variant, found in the ACTN3 gene promoter region, between native breeds and racing breeds like Thoroughbreds and Arabians.
- The variations in allele/genotype between primitive and light breeds suggested that the studied gene variant could be under selection pressure and can be correlated with a horse’s racing ability.
- The researchers also observed significant differences in the c.2334C > T genotype frequency between Arabian horses and the other studied breeds. This might suggest its connection with endurance and athletic performance.
- The prevalence of the T allele (making up to 85% of the gene variants) in Arabians implies that this variant may have been favored in selection processes aimed at enhancing stamina, and it could be one of the genetic factors determining endurance ability.
Future Research
- The researchers recommend further studies to confirm the association of both polymorphisms with specific racing and riding results. This implies that while the findings provide a basis for understanding the influence of the ACTN3 gene on performance characteristics, a more precise and detailed analysis is required to fully explore the impact of these gene variants on performance.
Cite This Article
APA
Musiał AD, Ropka-Molik K, Piórkowska K, Jaworska J, Stefaniuk-Szmukier M.
(2019).
ACTN3 genotype distribution across horses representing different utility types and breeds.
Mol Biol Rep, 46(6), 5795-5803.
https://doi.org/10.1007/s11033-019-05013-0 Publication
Researcher Affiliations
- Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Kraków, Poland.
- Department of Animal Molecular Biology, National Research Institute of Animal Production, Balice, Poland. katarzyna.ropka@izoo.krakow.pl.
- Laboratory of Genomics, Department of Animal Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083, Balice, Poland. katarzyna.ropka@izoo.krakow.pl.
- Department of Animal Molecular Biology, National Research Institute of Animal Production, Balice, Poland.
- Faculty of Veterinary Medicine, University of Warmia and Mazury in Olsztyn - UWM, Olsztyn, Poland.
- Department of Horse Breeding, Institute of Animal Science, University of Agriculture in Krakow, Kraków, Poland.
MeSH Terms
- Actinin / genetics
- Animals
- Athletic Performance
- Breeding
- Gene Frequency / genetics
- Genetic Markers / genetics
- Genotype
- Horses / classification
- Horses / genetics
- Horses / physiology
- Polymorphism, Single Nucleotide / genetics
Grant Funding
- 2014/15/D/NZ9/05256 / Narodowe Centrum Nauki
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Citations
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