ACTN3 genotype distribution across horses representing different utility types and breeds
Adrianna D. Musiał , Katarzyna Ropka-Molik , Katarzyna Piórkowska , Joanna Jaworska , Monika Stefaniuk-Szmukier
AbstractIn 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.
|Journal series||Molecular Biology Reports, ISSN 0301-4851, e-ISSN 1573-4978, (N/A 70 pkt)|
|Publication size in sheets||0.5|
|Keywords in English||Actinin-3, Performance, Polymorphisms, Horse breed, Genetic marker|
|ASJC Classification||; ;|
|License||Journal (articles only); author's original; ; after publication|
|Publication indicators||= 0; : 2017 = 0.689; : 2018 = 2.107 (2) - 2018=1.707 (5)|
|Finansowanie||The study was supported by the National Science Centre (Project No. 2014/15/D/NZ9/05256).|
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