A Sequence Polymorphism in MSTN Predicts Sprinting Ability and Racing Stamina in Thoroughbred Horses

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W. Hill, Emmeline ; Gu, Jingjing ; S. Eivers, Suzanne ; G. Fonseca, Rita ; A. McGivney, Beatrice ; Govindarajan, Preethi ; Orr, Nick ; M. Katz, Lisa ; MacHugh, David (2010)

<div><p>Variants of the <em>MSTN</em> gene encoding myostatin are associated with muscle hypertrophy phenotypes in a range of mammalian species, most notably cattle, dogs, mice, and humans. Using a sample of registered Thoroughbred horses (<em>n</em> = 148), we have identified a novel <em>MSTN</em> sequence polymorphism that is strongly associated (g.66493737C>T, <em>P</em> = 4.85×10<sup>−8</sup>) with best race distance among elite racehorses (<em>n</em> = 79). This observation was independently validated (<em>P</em> = 1.91×10<sup>−6</sup>) in a resampled group of Thoroughbreds (<em>n</em> = 62) and in a cohort of Thoroughbreds (<em>n</em> = 37, <em>P</em> = 0.0047) produced by the same trainer. We observed that C/C horses are suited to fast, short-distance races; C/T horses compete favorably in middle-distance races; and T/T horses have greater stamina. Evaluation of retrospective racecourse performance (<em>n</em> = 142) and stallion progeny performance predict that C/C and C/T horses are more likely to be successful two-year-old racehorses than T/T animals. Here we describe for the first time the identification of a gene variant in Thoroughbred racehorses that is predictive of genetic potential for an athletic phenotype.</p></div>
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