ACTN3 genotype distribution across horses representing different utility types and breeds

Adrianna D. Musiał , Katarzyna Ropka-Molik , Katarzyna Piórkowska , Joanna Jaworska , Monika Stefaniuk-Szmukier


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.
Author Adrianna D. Musiał
Adrianna D. Musiał,,
, Katarzyna Ropka-Molik
Katarzyna Ropka-Molik,,
, Katarzyna Piórkowska
Katarzyna Piórkowska,,
, Joanna Jaworska
Joanna Jaworska,,
, Monika Stefaniuk-Szmukier (FoAS / IoAS)
Monika Stefaniuk-Szmukier,,
- Institute of Animal Science
Journal seriesMolecular Biology Reports, ISSN 0301-4851, e-ISSN 1573-4978, (N/A 70 pkt)
Issue year2019
Publication size in sheets0.5
Keywords in EnglishActinin-3, Performance, Polymorphisms, Horse breed, Genetic marker
ASJC Classification2700 General Medicine; 1311 Genetics; 1312 Molecular Biology
Languageen angielski
LicenseJournal (articles only); author's original; Uznanie Autorstwa (CC-BY); after publication
ACTN3 genotype distribution across horses representing different utility types and breeds of 10-12-2019
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Score (nominal)70
Score sourcejournalList
Publication indicators WoS Citations = 0; Scopus SNIP (Source Normalised Impact per Paper): 2017 = 0.689; WoS Impact Factor: 2018 = 2.107 (2) - 2018=1.707 (5)
Citation count*
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FinansowanieThe study was supported by the National Science Centre (Project No. 2014/15/D/NZ9/05256).
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