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Animal genetics2014; 45(6); 827-835; doi: 10.1111/age.12205

Haplotype diversity in the equine myostatin gene with focus on variants associated with race distance propensity and muscle fiber type proportions.

Abstract: Two variants in the equine myostatin gene (MSTN), including a T/C SNP in the first intron and a 227-bp SINE insertion in the promoter, are associated with muscle fiber type proportions in the Quarter Horse (QH) and with the prediction of race distance propensity in the Thoroughbred (TB). Genotypes from these loci, along with 18 additional variants surrounding MSTN, were examined in 301 horses of 14 breeds to evaluate haplotype relationships and diversity. The C allele of intron 1 was found in 12 of 14 breeds at a frequency of 0.27; the SINE was observed in five breeds, but common in only the TB and QH (0.73 and 0.48 respectively). Haplotype data suggest the SINE insertion is contemporary to and arose upon a haplotype containing the intron 1 C allele. Gluteal muscle biopsies of TBs showed a significant association of the intron 1 C allele and SINE with a higher proportion of Type 2B and lower proportion of Type 1 fibers. However, in the Belgian horse, in which the SINE is not present, the intron 1 SNP was not associated with fiber type proportions, and evaluation of fiber type proportions across the Belgian, TB and QH breeds shows the significant effect of breed on fiber type proportions is negated when evaluating horses without the SINE variant. These data suggest the SINE, rather than the intron 1 SNP, is driving the observed muscle fiber type characteristics and is the variant targeted by selection for short-distance racing.
© 2014 Stichting International Foundation for Animal Genetics.
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Publication Date: 2014-08-26 PubMed ID: 25160752PubMed Central: PMC4211974DOI: 10.1111/age.12205Google Scholar: Lookup
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Summary

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The research article investigates the genetic variants in the horse muscle growth gene and how these might be associated with racing distance propensity and muscle fiber types in various horse breeds. The study finds that one particular genetic variant, rather than another previously linked variant, might be the key driver of muscle fiber traits targeted for short-distance racing.

Overview of the Research

  • The study examines the genetic variants in the equine myostatin gene (MSTN), which has been linked to muscle growth. The two main variants studied are a T/C single nucleotide polymorphism (SNP) in the first intron and a short interspersed nuclear element (SINE) insertion in the gene’s promoter.
  • The researchers explore these variants in 301 horses across 14 breeds, aiming to evaluate the relationships and diversity of haplotypes – a set of DNA variations that are inherited together.

Findings of the Study

  • The C allele of the first intron was found in 12 of the 14 horse breeds studied, at a frequency of 0.27. The SINE insertion was discovered in five breeds, but it was common only in Thoroughbred (TB) and Quarter Horse (QH) breeds, with frequencies of 0.73 and 0.48, respectively.
  • Haplotype data analysis implied that the SINE insertion occurred contemporaneously with, and upon, a haplotype containing the intron 1 C allele.

Muscle Fiber Type Associations

  • Investigating gluteal muscle biopsies of TB horses revealed a significant association of the intron 1 C allele and SINE with a higher density of Type 2B muscle fibers and lower density of Type 1 fibers. Type 2B fibers are associated with powerful, fast contractions suitable for sprinting, while Type 1 fibers are linked to endurance.
  • However, in the Belgian horse, where the SINE insertion was not observed, no connection between the intron 1 SNP and muscle fiber type proportions was found. This suggests that the SINE insertion, rather than the intron 1 SNP, drives the muscle fiber type traits observed.

Impact on Short-Distance Racing

  • The study suggests that the SINE insertion in the MSTN gene is the variant that influences muscle traits targeted for short-distance horse racing. This indicates that genetic selection may have been happenstance for these performance traits in certain breeds.

Cite This Article

APA
Petersen JL, Valberg SJ, Mickelson JR, McCue ME. (2014). Haplotype diversity in the equine myostatin gene with focus on variants associated with race distance propensity and muscle fiber type proportions. Anim Genet, 45(6), 827-835. https://doi.org/10.1111/age.12205

Publication

Animal genetics
ISSN: 1365-2052
NlmUniqueID: 8605704
Country: England
Language: English
Volume: 45
Issue: 6
Pages: 827-835

Researcher Affiliations

Petersen, Jessica L
  • Veterinary Population Medicine, University of Minnesota, St Paul, MN, 55108, USA; Department of Animal Science, University of Nebraska, Lincoln, NE, 68583-0908, USA.
Valberg, Stephanie J
    Mickelson, James R
      McCue, Molly E

        MeSH Terms

        • Animals
        • Breeding
        • Gene Frequency
        • Genotype
        • Haplotypes
        • Horses / classification
        • Horses / genetics
        • Introns
        • Muscle Fibers, Skeletal / classification
        • Myostatin / genetics
        • Polymorphism, Single Nucleotide
        • Promoter Regions, Genetic
        • Short Interspersed Nucleotide Elements

        Grant Funding

        • K08 AR055713 / NIAMS NIH HHS
        • T32 AR007612 / NIAMS NIH HHS
        • 1K08AR055713-01A1 / NIAMS NIH HHS
        • 2T32AR007612 / NIAMS NIH HHS

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        Citations

        This article has been cited 23 times.
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