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Molecular biology reports2019; 46(6); 5795-5803; doi: 10.1007/s11033-019-05013-0

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.
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Publication Date: 2019-08-07 PubMed ID: 31392535PubMed Central: 2913906DOI: 10.1007/s11033-019-05013-0Google Scholar: Lookup
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Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

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

Molecular biology reports
ISSN: 1573-4978
NlmUniqueID: 0403234
Country: Netherlands
Language: English
Volume: 46
Issue: 6
Pages: 5795-5803

Researcher Affiliations

Musiał, Adrianna D
  • Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Kraków, Poland.
Ropka-Molik, Katarzyna
  • 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.
Piórkowska, Katarzyna
  • Department of Animal Molecular Biology, National Research Institute of Animal Production, Balice, Poland.
Jaworska, Joanna
  • Faculty of Veterinary Medicine, University of Warmia and Mazury in Olsztyn - UWM, Olsztyn, Poland.
Stefaniuk-Szmukier, Monika
  • 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

References

This article includes 31 references
  1. Berman Y, North KN. A gene for speed: the emerging role of alpha-actinin-3 in muscle metabolism.. Physiology 25:250–259.
    doi: 10.1152/physiol.00008.2010google scholar: lookup
  2. Beggs AH, Byers TJ, Knoll JH, Boyce FM, Bruns GA, Kunkel LM. Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.. J Biol Chem 1992 May 5;267(13):9281-8.
    pubmed: 1339456
  3. Blanchard A, Ohanian V, Critchley D. The structure and function of alpha-actinin.. J Muscle Res Cell Motil 10:280–289.
    doi: 10.1007/BF01758424google scholar: lookup
  4. Court MH, Michael H. Court’s (2005–2008) online calculator.. (Tuft University).
  5. Dall'Olio S, Fontanesi L, Nanni Costa L, Tassinari M, Minieri L, Falaschini A. Analysis of horse myostatin gene and identification of single nucleotide polymorphisms in breeds of different morphological types.. J Biomed Biotechnol 2010;2010.
    pubmed: 20706663pmc: 2913906doi: 10.1155/2010/542945google scholar: lookup
  6. Eynon N, Hanson ED, Lucia A, Houweling PJ, Garton F, North KN, Bishop DJ. Genes for elite power and sprint performance: ACTN3 leads the way.. Sports Med 43:803–817.
    doi: 10.1007/s40279-013-0059-4google scholar: lookup
  7. Garton F, North KN. The effect of heterozygosity for the ACTN3 null allele on human muscle performance.. Med Sci Sports Exerc 48:509–520.
    doi: 10.1249/MSS.0000000000000784google scholar: lookup
  8. Garton FC, Houweling PJ, Vukcevic D, Meehan LR, Lee FXZ, Lek M, Roeszler KN, Hogarth MW, Tiong CF, Zannino D, Yang N, Leslie S, Gregorevic P, Head SI, Seto JT, North K. The effect of ACTN3 gene doping on skeletal muscle performance.. Am J Hum Genet 102:845–857.
    doi: 10.1016/j.ajhg.2018.03.009google scholar: lookup
  9. Kim H, Song KH, Kim CH. The ACTN3 R577X variant in sprint and strength performance.. J Exerc Nutr Biochem 18:347–353.
    doi: 10.5717/jenb.2014.18.4.347google scholar: lookup
  10. Mata X, Vaiman A, Ducasse A, Diribarne M, Schibler L, Guérin G. Genomic structure, polymorphism and expression of the horse alpha-actinin-3 gene.. Gene 491:20–24.
    doi: 10.1016/j.gene.2011.09.014google scholar: lookup
  11. Mero A, Jaakkola L, Komi PV. Relationships between muscle fibre characteristics and physical performance capacity in trained athletic boys.. J Sports Sci 9:161–171.
    doi: 10.1080/02640419108729877google scholar: lookup
  12. North KN, Beggs AH. Deficiency of a skeletal muscle isoform α-actinin (α-actinin-3) in merosin-positive congenital muscular dystrophy.. Neuromusc Disord 6:229–235.
    doi: 10.1016/0960-8966(96)00361-6google scholar: lookup
  13. Otey CA, Carpen O. Alpha-actinin revisited: a fresh look at an old player.. Cell Motil Cytoskeleton 58:104–111.
    doi: 10.1002/cm.20007google scholar: lookup
  14. Preacher KJ. Calculation for the Chi square test: an interactive calculation tool for Chi square tests of goodness of fit and independence [Computer software].. .
  15. Purzyc H. A general characteristic of Hucul horses.. Acta Sci Pol 6(4):25–31.
  16. Quinlan KG, Seto JT, Turner N, Vandebrouck A, Floetenmeyer M, Macarthur DG, Raftery JM, Lek M, Yang N, Parton RG, Cooney GJ, North KN. Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle.. Hum Mol Genet 19:1335–1346.
    doi: 10.1093/hmg/ddq010google scholar: lookup
  17. Pickering C, Kiely J. ACTN3: more than just a gene for speed.. Front Physiol 8:1080.
    doi: 10.3389/fphys.2017.01080google scholar: lookup
  18. Polak G. Genetic variability of coldblooded horses, participating in genetic resources conservation programs, using pedigree analysis.. Ann Anim Sci 19(1):49–60.
    doi: 10.2478/aoas-2018-0047google scholar: lookup
  19. Rankinen T, Fuku N, Wolfarth B, Wang G, Sarzynski MA, Alexeev DG, Ahmetov II, Boulay MR, Cieszczyk P, Eynon N, Filipenko ML, Garton FC, Generozov EV, Govorun VM, Houweling PJ, Kawahara T, Kostryukova ES, Kulemin NA, Larin AK, Maciejewska-Karłowska A, Miyachi M, Muniesa CA, Murakami H, Ospanova EA, Padmanabhan S, Pavlenko AV, Pyankova ON, Santiago C, Sawczuk M, Scott RA, Uyba VV, Yvert T, Perusse L, Ghosh S, Rauramaa R, North KN, Lucia A, Pitsiladis Y, Bouchard C. No evidence of a common DNA variant profile specific to world class endurance athletes.. PLoS ONE 110:e0147330.
    doi: 10.1371/journal.pone.0147330google scholar: lookup
  20. Ropka-Molik K, Stefaniuk-Szmukier M, Musiał AD, Piórkowska K, Szmatoła T. Sequence analysis and expression profiling of the equine ACTN3 gene during exercise in Arabian horses.. Gene 685:149–155.
    doi: 10.1016/j.gene.2018.10.079google scholar: lookup
  21. Ropka-Molik K, Stefaniuk-Szmukier M, Żukowski K, Piórkowska K, Bugno-Poniewierska M. Exercise-induced modification of the skeletal muscle transcriptome in Arabian horses.. Physiol Genomics 49:318–326.
    doi: 10.1152/physiolgenomics.00130.2016google scholar: lookup
  22. Saunders CJ, September AV, Xenophontos SL, Cariolou MA, Anastassiades LC, Noakes TD, Collins M. No association of the ACTN3 gene R577X polymorphism with endurance performance in Ironman Triathlons.. Ann Hum Genet 71:777–781.
    doi: 10.1111/j.1469-1809.2006.00385.xgoogle scholar: lookup
  23. Stefaniuk-Szmukier M, Ropka-Molik K, Piórkowska K, Szmatoła T, Długosz B, Pisarczyk W, Bugno-Poniewierska M. Variation in TBX3 gene region in dun coat color Polish Konik horses.. J Equine Vet Sci 49:60–62.
    doi: 10.1016/j.jevs.2016.10.003google scholar: lookup
  24. Thomas KC, Hamiton NA, North KN, Houweling PJ. Sequence analysis of the equine ACTN3 gene in Australian horse breeds.. Gene 538:88–93.
    doi: 10.1016/j.gene.2014.01.014google scholar: lookup
  25. Vincent B, De Bock K, Ramaekers M, Van den Eede E, Van Leemputte M, Hespel P, Thomis MA. ACTN3 (R577X) genotype is associated with fiber type distribution.. Physiol Genomics 32:58–63.
    doi: 10.1152/physiolgenomics.00173.2007google scholar: lookup
  26. Wang J, Meng J, Wang X, Zeng Y, Li L, Xin Y, Yao X, Liu W. Analysis of equine ACTN3 gene polymorphisms in Yili horses.. J Equine Vet Sci 70:101–106.
    doi: 10.1016/j.jevs.2018.08.003google scholar: lookup
  27. Wang YX, Zhang CL, Yu RT, Cho HK, Nelson MC, Bayuga-Ocampo CR, Ham J, Kang H, Evans RM. Regulation of muscle fiber type and running endurance by PPARδ.. PLoS Biol 2:e294.
    doi: 10.1371/journal.pbio.0020294google scholar: lookup
  28. Wimmers K, Fiedler I, Hardge T, Murani E, Schellander K, Ponsuksili S. QTL for microstructural and biophysical muscle properties and body composition in pigs.. BMC Genet 9:7–15.
  29. Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K. ACTN3 genotype is associated with human elite athletic performance.. Am J Hum Genet 73(3):627–631.
    doi: 10.1086/377590google scholar: lookup
  30. Zechner P, Sölkner J, Bodo I, Druml T, Baumung R, Achmann R, Marti E, Habe F, Brem G. Analysis of diversity and population structure in the Lipizzan horse breed based on pedigree information.. Livest Prod Sci 77(2–3):137–146.
    doi: 10.1016/S0301-6226(02)00079-9google scholar: lookup
  31. Zierath JR, Hawley JA. Skeletal muscle fiber type: influence on contractile and metabolic properties.. PLoS Biol 10:e348.
    doi: 10.1371/journal.pbio.0020348google scholar: lookup

Citations

This article has been cited 5 times.
  1. Gasser B, Flück M, Frey WO, Valdivieso P, Spörri J. Association of Gene Variants for Mechanical and Metabolic Muscle Quality with Cardiorespiratory and Muscular Variables Related to Performance in Skiing Athletes. Genes (Basel) 2022 Oct 5;13(10).
    doi: 10.3390/genes13101798pubmed: 36292682google scholar: lookup
  2. Myćka G, Musiał AD, Stefaniuk-Szmukier M, Piórkowska K, Ropka-Molik K. Variability of ACOX1 Gene Polymorphisms across Different Horse Breeds with Regard to Selection Pressure. Animals (Basel) 2020 Nov 27;10(12).
    doi: 10.3390/ani10122225pubmed: 33260884google scholar: lookup
  3. Jia B, Liu Y, Li Q, Zhang J, Ge C, Wang G, Chen G, Liu D, Yang F. Altered miRNA and mRNA Expression in Sika Deer Skeletal Muscle with Age. Genes (Basel) 2020 Feb 6;11(2).
    doi: 10.3390/genes11020172pubmed: 32041309google scholar: lookup
  4. Sharma M, Singh A, Kumar V, Olla N, Arora R, Sharma R, Mohan NH, Ahlawat S. Advances in Equine Genomics: Decoding the Genetic Architecture of Morphology, Performance, Behavior, and Adaptation. Mol Biotechnol 2025 Dec 19;.
    doi: 10.1007/s12033-025-01544-zpubmed: 41417456google scholar: lookup
  5. Puchalska M, Witkowska-Piłaszewicz O. Gene doping in horse racing and equine sports: Current landscape and future perspectives. Equine Vet J 2025 Mar;57(2):312-324.
    doi: 10.1111/evj.14418pubmed: 39267222google scholar: lookup
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