<i>MSTN</i>genotype (g.66493737C/T) association with speed indices in Thoroughbred racehorses

Hill, E. W.; Fonseca, R.; McGivney, Beatrice A.; Gu, Jingjing; MacHugh, David E.; Katz, Lisa

doi:10.1152/japplphysiol.00793.2011

Cited by 37 publications

(38 citation statements)

References 42 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The singular, genomic influence on optimum race distance at the MSTN locus in the Thoroughbred is supported by a high heritability for race distance (h 2 = 0.94) 29 . Further evidence for the role of chromosomes containing the C-allele in influencing speed comes from association tests with field-measured speed indices 30 and from previous analysis of g.66493737C/T genotypes in the Quarter Horse, for which a high frequency of C/C homozygotes (0.83) has been reported 19 . The Quarter Horse is a North-American breed that excels at sprinting over distances of a quarter of a mile (400 m) or less.…”

mentioning

confidence: 99%

The genetic origin and history of speed in the Thoroughbred racehorse

Bower

McGivney²,

Campana

et al. 2012

Nat Commun

Self Cite

View full text Add to dashboard Cite

mentioning

confidence: 99%

The genetic origin and history of speed in the Thoroughbred racehorse

Bower

McGivney²,

Campana

et al. 2012

Nat Commun

Self Cite

View full text Add to dashboard Cite

“…C/C associated with fast shortsprint ability, C/T associated with middle-distance ability, T/T associated with enhanced stamina over mid-to long-distance races. (Hill et al 2010a;Hill et al 2010c;Tozaki et al 2011;Hill et al 2012;McGivney et al 2012) LCORL/NCAPG gene region Gene expression levels and known SNP is Non-specific influence on athletic performance.…”

Section: Mstn (G66493737c/t)mentioning

confidence: 99%

“…If athletic performance gene variants were identified and reliably incorporated into current genetic testing protocols, then larger percentages of the Thoroughbred population could be more accurately tested for beneficial traits for the wider inclusion of individuals in the breeding population (Hill et al 2010b;Hill et al 2010c;Hill et al 2012). To enable the use of genetic testing in this way, specific genes must be identified that can act both as a measure of athletic performance and an indicator of the genetic fitness of a population.…”

Section: Mstn (G66493737c/t)mentioning

confidence: 99%

“…Whilst genetic screening of an equine sample population using the candidate gene approach will invariably use a lower sample size than comparative studies in humans or other experimental species that make use of other study methods, the relatively low genetic variation seen in Thoroughbreds due to intense human selection for athletic traits means that smaller sample sizes can still provide reliable and statistically significant results (Hill et al 2010b;Hill et al 2012).…”

Section: Candidate Gene List Approachmentioning

confidence: 99%

“…positively correlating a sequence variant in the equine myostatin gene to optimal racing distance for the Thoroughbred (Binns, Boehler & Lambert 2010;McGivney et al 2012). However, whilst the majority of current research has focused primarily on skeletal muscle traits, genome-wide association studies in both equines and humans have identified other genomic regions of significance to athletic performance, as well as cardiac-specific genes potentially involved in athletic performance.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Cardiovascular gene variants of the Australian thoroughbred population: occurrence, genetic diversity, and racing success

Watson¹

View full text Add to dashboard Cite

Athletic performance, regardless of activity or mammalian species, is determined by a combination of many genetic and environmental factors. Indeed, the functions of mammalian cardiovascular systems are greatly influenced by genetic factors that can have substantial phenotype variations between individuals and consequently variations in athletic performance. While many human studies have identified genomic regions of significance to cardiac-specific genes potentially involved in athletic performance, equine research linking genotype to particular equine phenotypes is deficient.It is currently thought that the abnormally large heart sizes (a non-disease state cardiac hypertrophy) seen in some Thoroughbred horses may contribute positively to athletic performance. Preliminary pedigree analysis suggests that the larger-than-average heart size and altered electrocardiograms (ECG) observed in some Thoroughbred horses may be a familial and/or breed-specific trait and thus have a genetic component, however to date no further molecular genetic analysis has been performed. Genes responsible for, or associated with, cardiac development, regulation, size, and function have been identified in both human and laboratory animal model species. These genes include MYH7, CASQ2, AKT1, PTEN, and PI3K. These genes are conserved across vertebrate and invertebrate species and have been shown to play crucial, equivalent roles in determining cardiac rhythm, growth, and function. Furthermore, these genes have not previously been characterised in Thoroughbred horses.It is hypothesised that genetic variation within these orthologous genes plays a major role in breedspecific equine cardiac size determination, regulation, and function. Therefore, this study aims to determine the genetic variation in genes involved in cardiovascular function, development, and size in the Australian Thoroughbred horse population, and investigate whether this variation may contribute on a molecular level to the high level of athletic performance characteristic of this breed.We determined the novel sequence variants of the above five equine orthologues in a panel of nonrelated Thoroughbred horses (n = 93). This has revealed several novel INDELs and SNPs that are potentially responsible for the large heart phenotype and the classification of previously undocumented variations. Key findings include novel SNPs that result in nonsense mutations in MYH7 suggesting multiple allele variants at several locations, and several insertions of premature stop codons (locations 40, 63, 64, 94, and 97) resulting in premature protein truncation. Also found was a non-conservative amino acid change in CASQ2 affecting calcium binding and protein polarity; a 3-base pair deletion in the 5' UTR (un-translated region) of AKT1 possibly resulting in iii changes to transcription factor binding regions or other regulatory binding sites; several variants in both 5' and 3' UTR of PTEN and a PI3K variant causing substitution of glutamine with a STOP codon, resulting in complete loss o...

show abstract

Effect of Myostatin SNP on muscle fiber properties in male Thoroughbred horses during training period

et al. 2017

View full text Add to dashboard Cite

Variants of the Myostatin gene have been shown to have an influence on muscle hypertrophy phenotypes in a wide range of mammalian species. Recently, a Thoroughbred horse with a C-Allele at the g.66493737C/T single-nucleotide polymorphism (SNP) has been reported to be suited to short-distance racing. In this study, we examined the effect of the Myostatin SNP on muscle fiber properties in young Thoroughbred horses during a training period. To investigate the effect of the Myostatin SNP on muscle fiber before training, several mRNA expressions were relatively quantified in biopsy samples from the middle gluteal muscle of 27 untrained male Thoroughbred horses (1.5 years old) using real-time RT-PCR analysis. The remaining muscle samples were used for immunohistochemical analysis to determine the population and area of each fiber type. All measurements were revaluated in biopsy samples of the same horses after a 5-month period of conventional training. Although the expressions of Myostatin mRNA decreased in all SNP genotypes, a significant decrease was found in only the C/C genotype after training. While, expression of VEGFa, PGC1α, and SDHa mRNAs, which relate to the biogenesis of mitochondria and capillaries, was significantly higher (54-82%) in the T/T than the C/C genotypes after training. It is suggested that hypertrophy of muscle fiber is directly associated with a decrease in Myostatin mRNA expression in the C/C genotype, and that increased expressions of VEGFa, PGC1α, and SDHa in the T/T genotype might be indirectly caused by the Myostatin SNP.

show abstract

MSTNgenotype (g.66493737C/T) association with speed indices in Thoroughbred racehorses

Cited by 37 publications

References 42 publications

The genetic origin and history of speed in the Thoroughbred racehorse

The genetic origin and history of speed in the Thoroughbred racehorse

Cardiovascular gene variants of the Australian thoroughbred population: occurrence, genetic diversity, and racing success

Effect of Myostatin SNP on muscle fiber properties in male Thoroughbred horses during training period

Contact Info

Product

Resources

About