Analysis of Equine ACTN3 Gene Polymorphisms in Yili Horses

Wang, Jianwen; Meng, Jun; Wang, Xuguang; Yaqi, Zeng; Li, Linling; Xin, Yali; Xinkui, Yao; Liu, Wujun

doi:10.1016/j.jevs.2018.08.003

Cited by 5 publications

(9 citation statements)

References 34 publications

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“…Both analysed polymor phisms (g.1104G > A; c.2334C > T) were also identified in Chinese native Yili Horses [26]. In this analysed breed, the authors showed a similar genotype distribution of the g.1104G > A polymorphism as found in our Arabian horse population (for Yili horses AG-44.74 and GG-42.11% and for Arabian horses AG-53.1, GG-47.7%).…”

Section: Discussionsupporting

confidence: 73%

“…Furthermore, for c.2334C > T SNP genotype frequency (CC-86.84%; CT-10.53%; TT-2.63%), the Yili Horse population was the most similar to Polish koniks and completely opposite of Arabian horses. Wang et al [26] focused on another SNP missense variant, g.9059T > G, identified in this breed and proposed it as a clausal mutation affecting athletic performance (TT-94.74% and TG-5.26%). The authors showed that g.9059T > G changed the secondary structure of α-actinin-3, and proposed this SNP as a candidate for breeding improvement towards racing traits.…”

Section: Discussionmentioning

confidence: 99%

“…The functional and structural analysis of the ACTN3 gene is also performed with regard to its association with horse performance characteristics. 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].…”

Section: Introductionmentioning

confidence: 91%

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ACTN3 genotype distribution across horses representing different utility types and breeds

et al. 2019

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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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Section: Discussionsupporting

confidence: 73%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 91%

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ACTN3 genotype distribution across horses representing different utility types and breeds

et al. 2019

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“…The two genes ACTN3 and MSTN , which function in muscle development and muscle fibre composition, were also identified in the selection signature regions. ACTN3 is a sarcomeric protein involved in structure, muscle metabolism, and calcineurin signalling 74,75 . Mutations in ACTN3 change muscle fibre phenotype from fast-twitch fibres to slow-twitch fibres 75 .…”

Section: Resultsmentioning

confidence: 99%

“…ACTN3 is a sarcomeric protein involved in structure, muscle metabolism, and calcineurin signalling 74,75 . Mutations in ACTN3 change muscle fibre phenotype from fast-twitch fibres to slow-twitch fibres 75 . Moreover, rs1144978872 in the 5′UTR of ACTN3 leads to g.30226577 G > A and may affect athletic performance 74,75 .…”

Section: Resultsmentioning

confidence: 99%

Comprehensive genome and transcriptome analyses reveal genetic relationship, selection signature, and transcriptome landscape of small-sized Korean native Jeju horse

Srikanth

Kim

Park

et al. 2019

Sci Rep

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The Jeju horse, indigenous to the Jeju Island in Korea may have originated from Mongolian horses. Adaptations to the local harsh environment have conferred Jeju horse with unique traits such as small-sized body, stocky head, and shorter limbs. These characteristics have not been studied previously at the genomic level. Therefore, we sequenced and compared the genome of 41 horses belonging to 6 breeds. We identified numerous breed-specific non-synonymous SNPs and loss-of-function mutants. Demographic and admixture analyses showed that, though Jeju horse is genetically the closest to the Mongolian breeds, its genetic ancestry is independent of that of the Mongolian breeds. Genome wide selection signature analysis revealed that genes such as LCORL, MSTN, HMGA2, ZFAT, LASP1, PDK4, and ACTN2, were positively selected in the Jeju horse. RNAseq analysis showed that several of these genes were also differentially expressed in Jeju horse compared to Thoroughbred horse. Comparative muscle fiber analysis showed that, the type I muscle fibre content was substantially higher in Jeju horse compared to Thoroughbred horse. Our results provide insights about the selection of complex phenotypic traits in the small-sized Jeju horse and the novel SNPs identified will aid in designing high-density SNP chip for studying other native horse breeds.

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Genetic Diversity in Original Arabian-WAHO, Local and Thoroughbred Horses in Iraq from ACTN3-EXON19 Gene Polymorphism

Turki,

Al-Anbari

2023

IOP Conf. Ser.: Earth Environ. Sci.

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The research was conducted in the Iraqi Equestrian Club (15 km west of Baghdad city center) for the period from 10/1/2021 to 11/30/2022, with the aim of detecting genetic features in the ACTN3 gene for each of the nineteenth exon (EXON19) in three types of horses, which are the original Arabian-WAHO, Local, and British Thoroughbred, with 38, 38, and 39 head each, respectively, for the purpose of studying genetic diversity indicators by estimating Mean allelic abundance -na) and some fixation indexes. The average total allelic abundance (na) for all mutation sites in the ACTN3/EXON19 gene for the three types of horses was 2.00, while the total number of effective alleles (ne) was 1.437, 1.594 and 1.592 for original Arabian-WAHO, Local, and British Thoroughbred respectively. The individual (Fis) for all mutation sites in the ACTN3 gene within the horse herd and for each type of them - 0.113, -0.107, and -0.138 for original Arabian-WAHO, Local, and the British Thoroughbred horses respectively, with a total rate of -0.1197, and that most of the estimates of genetic similarity between mutation sites in the ACTN3 gene are medium to high. We can conclude by studying the genetic diversity according to the genetic manifestations in the ACTN3 gene for each of the nineteenth exon EXON19, the possibility of adopting it in developing strategies for genetic improvement in horses and that the herd is characterized by the lack of internal breeding, and by studying the genetic differentiation stability index (Fst) and gene flow (Nm), there is genetic diversity in the studied gene regions, and the ACTN3 gene can be considered as a marker or genetic marker.

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Analysis of Equine ACTN3 Gene Polymorphisms in Yili Horses

Cited by 5 publications

References 34 publications

ACTN3 genotype distribution across horses representing different utility types and breeds

ACTN3 genotype distribution across horses representing different utility types and breeds

Comprehensive genome and transcriptome analyses reveal genetic relationship, selection signature, and transcriptome landscape of small-sized Korean native Jeju horse

Genetic Diversity in Original Arabian-WAHO, Local and Thoroughbred Horses in Iraq from ACTN3-EXON19 Gene Polymorphism

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