Sequence analysis and expression profiling of the equine ACTN3 gene during exercise in Arabian horses

Ropka‐Molik, Katarzyna; Stefaniuk‐Szmukier, Monika; Musiał, Adrianna D; Piórkowska, Katarzyna; Szmatoła, Tomasz

doi:10.1016/j.gene.2018.10.079

Cited by 12 publications

(15 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Thomas et al [24] hypothesized that the 5′UTR variant polymorphism may affect horse racing characteristics by modifying the level of ACTN3 gene expression. This hypothesis was supported by Ropka-Molik et al [20], which showed that flat-racing training in Arabian horses significantly modified ACTN3 gene expression regardless of the analysed splice isoforms. Moreover, the authors indicated a possible effect of the g.1104G > A polymorphism on ACTN3 gene expression in the gluteus medius muscle in horses after an intense gallop phase [20].…”

Section: Discussionmentioning

confidence: 67%

“…Moreover, in horses, the modification of ACTN3 transcript abundance under training conditions was confirmed [20,21]. In studies conducted on purebred Arabian horses, a significant decrease in the level of ACTN3 gene expression in muscle tissue was detected during long-term flat race training using an RNA-seq approach [21] and accurate real-time PCR method [20]. The study of Quinlan et al 92010) showed that alpha-actinin-3 is related to regulation of glycogen phosphorylase activity resulting in a metabolic shift promoting the increase in fatty acid use in ATP generation.…”

Section: Introductionmentioning

confidence: 76%

“…For all horses, two polymorphisms were selected for further evaluation of association with performance characteristics. A previous studies allowed the identification of two Single Nucleotide Polymorphisms (SNPs)-one in the promoter region (g.1104G > A; rs1144978872) [24] and one in the 19th exon located near a splice region in the junction between the 18th and 19th exons (c.2334C > T) (c.2334C > T; rs1141508235) [20], which were detected in Arabian horse population. Both SNPs can potentially affect the transcription process of the ACTN3 gene.…”

Section: Snps Identificationmentioning

confidence: 99%

“…To date, several reports have focused on the identification of SNP variations in the equine actinin-3 gene in different breeds [10,24,26]. Moreover, in horses, the modification of ACTN3 transcript abundance under training conditions was confirmed [20,21]. In studies conducted on purebred Arabian horses, a significant decrease in the level of ACTN3 gene expression in muscle tissue was detected during long-term flat race training using an RNA-seq approach [21] and accurate real-time PCR method [20].…”

Section: Introductionmentioning

confidence: 99%

“…The study of Quinlan et al 92010) showed that alpha-actinin-3 is related to regulation of glycogen phosphorylase activity resulting in a metabolic shift promoting the increase in fatty acid use in ATP generation. Thus, it can be hypothesized that (decreased of ACTN3 expression level in muscle can be associated with metabolism regulation [20].…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

ACTN3 genotype distribution across horses representing different utility types and breeds

et al. 2019

Self Cite

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 67%