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PloS one2009; 4(6); e5767; doi: 10.1371/journal.pone.0005767

A genome scan for positive selection in thoroughbred horses.

Abstract: Thoroughbred horses have been selected for exceptional racing performance resulting in system-wide structural and functional adaptations contributing to elite athletic phenotypes. Because selection has been recent and intense in a closed population that stems from a small number of founder animals Thoroughbreds represent a unique population within which to identify genomic contributions to exercise-related traits. Employing a population genetics-based hitchhiking mapping approach we performed a genome scan using 394 autosomal and X chromosome microsatellite loci and identified positively selected loci in the extreme tail-ends of the empirical distributions for (1) deviations from expected heterozygosity (Ewens-Watterson test) in Thoroughbred (n = 112) and (2) global differentiation among four geographically diverse horse populations (F(ST)). We found positively selected genomic regions in Thoroughbred enriched for phosphoinositide-mediated signalling (3.2-fold enrichment; P<0.01), insulin receptor signalling (5.0-fold enrichment; P<0.01) and lipid transport (2.2-fold enrichment; P<0.05) genes. We found a significant overrepresentation of sarcoglycan complex (11.1-fold enrichment; P<0.05) and focal adhesion pathway (1.9-fold enrichment; P<0.01) genes highlighting the role for muscle strength and integrity in the Thoroughbred athletic phenotype. We report for the first time candidate athletic-performance genes within regions targeted by selection in Thoroughbred horses that are principally responsible for fatty acid oxidation, increased insulin sensitivity and muscle strength: ACSS1 (acyl-CoA synthetase short-chain family member 1), ACTA1 (actin, alpha 1, skeletal muscle), ACTN2 (actinin, alpha 2), ADHFE1 (alcohol dehydrogenase, iron containing, 1), MTFR1 (mitochondrial fission regulator 1), PDK4 (pyruvate dehydrogenase kinase, isozyme 4) and TNC (tenascin C). Understanding the genetic basis for exercise adaptation will be crucial for the identification of genes within the complex molecular networks underlying obesity and its consequential pathologies, such as type 2 diabetes. Therefore, we propose Thoroughbred as a novel in vivo large animal model for understanding molecular protection against metabolic disease.
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Publication Date: 2009-06-02 PubMed ID: 19503617PubMed Central: PMC2685479DOI: 10.1371/journal.pone.0005767Google Scholar: Lookup
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Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

The research focuses on understanding genetic factors contributing to the exceptional athletic performance of thoroughbred horses. By examining the horse genome, it identifies certain positively selected loci associated with features like muscle strength and insulin sensitivity, which are crucial for the horse’s superior athletic capabilities.

Study Overview

  • The researchers conducted a genome scan in thoroughbred horses, a unique population given their intensive and recent selection within a relatively closed population with a small number of founder animals.
  • This study applied a hitchhiking mapping approach and used 394 autosomal and X chromosome microsatellite loci to aid in the identification of positively selected loci in horses.
  • Traces of positive selection were identified by deviations from expected genetic variations (heterozygosity) and global differentiation among diverse horse populations.

Findings

  • The results showed particular genomic regions had been positively selected in thoroughbreds that are associated with phosphoinositide-mediated signalling, insulin receptor signalling, and lipid transport.
  • An overrepresentation of genes related to the sarcoglycan complex and focal adhesion pathway was observed, implying the importance of muscle strength and integrity to the athletic phenotype of thoroughbreds.
  • The study identifies for the first time candidate genes associated with athletic performance in selective regions in Thoroughbred horses. These genes, including ACSS1, ACTA1, ACTN2, ADHFE1, MTFR1, PDK4, and TNC, are primarily responsible for fatty acid oxidation, increased insulin sensitivity, and muscle strength.

Significance

  • Understanding the genetic basis for athletic adaptation could be instrumental in identifying genes involved in complex physiological networks related to obesity and its ensuing pathologies like type 2 diabetes.
  • The study suggests that Thoroughbred horses could serve as a novel, large-scale in vivo animal model to understand the molecular mechanisms providing protection against metabolic diseases.

Cite This Article

APA
Gu J, Orr N, Park SD, Katz LM, Sulimova G, MacHugh DE, Hill EW. (2009). A genome scan for positive selection in thoroughbred horses. PLoS One, 4(6), e5767. https://doi.org/10.1371/journal.pone.0005767

Publication

PloS one
ISSN: 1932-6203
NlmUniqueID: 101285081
Country: United States
Language: English
Volume: 4
Issue: 6
Pages: e5767
PII: e5767

Researcher Affiliations

Gu, Jingjing
  • Animal Genomics Laboratory, School of Agriculture, Food Science and Veterinary Medicine, College of Life Sciences, University College Dublin, Belfield, Dublin, Ireland.
Orr, Nick
    Park, Stephen D
      Katz, Lisa M
        Sulimova, Galina
          MacHugh, David E
            Hill, Emmeline W

              MeSH Terms

              • Alleles
              • Animals
              • Chromosomes / ultrastructure
              • Genetic Variation
              • Genome
              • Genomics
              • Heterozygote
              • Horses / genetics
              • Hypoxia
              • Microsatellite Repeats
              • Muscles / metabolism
              • Phenotype
              • Selection, Genetic

              Conflict of Interest Statement

              The authors have declared that no competing interests exist.

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