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Home / Equine Research Bank / Anim Genet / Haplotype diversity in the equine myostatin gene with focus ...
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

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 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

        References

        This article includes 33 references
        1. Allen DL, Unterman TG. Regulation of myostatin expression and myoblast differentiation by FoxO and SMAD transcription factors.. Am J Physiol Cell Physiol 2007 Jan;292(1):C188-99.
          pubmed: 16885393doi: 10.1152/ajpcell.00542.2005google scholar: lookup
        2. Bechtel PJ, Kline KH. Muscle fiber type changes in the middle gluteal of Quarter and Standardbred Horses from birth through one year of age. In: Gillespie JR, Robinson NE, editors. Equine Exercise Physiology. ICEEP Publications; Davis: 1987. pp. 265–70.
        3. Binns MM, Boehler DA, Lambert DH. Identification of the myostatin locus (MSTN) as having a major effect on optimum racing distance in the Thoroughbred horse in the USA.. Anim Genet 2010 Dec;41 Suppl 2:154-8.
          pubmed: 21070290doi: 10.1111/j.1365-2052.2010.02126.xgoogle scholar: lookup
        4. Bottinelli R. Functional heterogeneity of mammalian single muscle fibres: do myosin isoforms tell the whole story?. Pflugers Arch 2001 Oct;443(1):6-17.
          pubmed: 11692261doi: 10.1007/s004240100700google scholar: lookup
        5. Bower MA, Campana MG, Whitten M, Edwards CJ, Jones H, Barrett E, Cassidy R, Nisbet RE, Hill EW, Howe CJ, Binns M. The cosmopolitan maternal heritage of the Thoroughbred racehorse breed shows a significant contribution from British and Irish native mares.. Biol Lett 2011 Apr 23;7(2):316-20.
          pmc: PMC3061175pubmed: 20926431doi: 10.1098/rsbl.2010.0800google scholar: lookup
        6. Bower MA, McGivney BA, Campana MG, Gu J, Andersson LS, Barrett E, Davis CR, Mikko S, Stock F, Voronkova V, Bradley DG, Fahey AG, Lindgren G, MacHugh DE, Sulimova G, Hill EW. The genetic origin and history of speed in the Thoroughbred racehorse.. Nat Commun 2012 Jan 24;3:643.
          pubmed: 22273681doi: 10.1038/ncomms1644google scholar: lookup
        7. Curry JW, Hohl R, Noakes TD, Kohn TA. High oxidative capacity and type IIx fibre content in springbok and fallow deer skeletal muscle suggest fast sprinters with a resistance to fatigue.. J Exp Biol 2012 Nov 15;215(Pt 22):3997-4005.
          pmc: PMC3597281pubmed: 22899533doi: 10.1242/jeb.073684google scholar: lookup
        8. Galisteo AM, Aguera E, Monterde JG, Miro F. Gluteus-medius muscle-fiber type composition in young Andalusian and Arabian horses. Journal of Equine Veterinary Science 1992;12:254–8.
        9. Guimaraes SEF, Stahl CH, Lonergan SM, Geiger B, Rothschild MF. Myostatin promoter analysis and expression pattern in pigs. Livestock Science 2007;112:143–50.
        10. Hendricks B. International Encyclopedia of Horse Breeds. University of Oklahoma Press; Norman: 2007.
        11. Hill EW, Fonseca RG, McGivney BA, Gu J, MacHugh DE, Katz LM. MSTN genotype (g.66493737C/T) association with speed indices in Thoroughbred racehorses.. J Appl Physiol (1985) 2012 Jan;112(1):86-90.
          pubmed: 22016373doi: 10.1152/japplphysiol.00793.2011google scholar: lookup
        12. Hill EW, Gu J, Eivers SS, Fonseca RG, McGivney BA, Govindarajan P, Orr N, Katz LM, MacHugh DE. A sequence polymorphism in MSTN predicts sprinting ability and racing stamina in thoroughbred horses.. PLoS One 2010 Jan 20;5(1):e8645.
          pmc: PMC2808334pubmed: 20098749doi: 10.1371/journal.pone.0008645google scholar: lookup
        13. Hill EW, McGivney BA, Gu J, Whiston R, Machugh DE. A genome-wide SNP-association study confirms a sequence variant (g.66493737C>T) in the equine myostatin (MSTN) gene as the most powerful predictor of optimum racing distance for Thoroughbred racehorses.. BMC Genomics 2010 Oct 11;11:552.
          pmc: PMC3091701pubmed: 20932346doi: 10.1186/1471-2164-11-552google scholar: lookup
        14. Jansen T, Forster P, Levine MA, Oelke H, Hurles M, Renfrew C, Weber J, Olek K. Mitochondrial DNA and the origins of the domestic horse.. Proc Natl Acad Sci U S A 2002 Aug 6;99(16):10905-10.
          pmc: PMC125071pubmed: 12130666doi: 10.1073/pnas.152330099google scholar: lookup
        15. Librado P, Rozas J. DnaSP v5: a software for comprehensive analysis of DNA polymorphism data.. Bioinformatics 2009 Jun 1;25(11):1451-2.
          pubmed: 19346325doi: 10.1093/bioinformatics/btp187google scholar: lookup
        16. Lindholm A, Piehl K. Fibre composition, enzyme activity and concentrations of metabolites and electrolytes in muscles of standardbred horses.. Acta Vet Scand 1974;15(3):287-309.
          pmc: PMC8407315pubmed: 4137664doi: 10.1186/bf03547460google scholar: lookup
        17. Linnane L, Serrano AL, Rivero JL. Distribution of fast myosin heavy chain-based muscle fibres in the gluteus medius of untrained horses: mismatch between antigenic and ATPase determinants.. J Anat 1999 Apr;194 ( Pt 3)(Pt 3):363-72.
          pmc: PMC1467936pubmed: 10386774doi: 10.1046/j.1469-7580.1999.19430363.xgoogle scholar: lookup
        18. Nei M. Molecular Evolutionary Genetics. Columbia Press; New York: 1987.
        19. Petersen JL, Mickelson JR, Cleary KD, McCue ME. The American Quarter Horse: population structure and relationship to the thoroughbred.. J Hered 2014 Mar-Apr;105(2):148-62.
          pmc: PMC3920813pubmed: 24293614doi: 10.1093/jhered/est079google scholar: lookup
        20. Petersen JL, Mickelson JR, Cothran EG, Andersson LS, Axelsson J, Bailey E, Bannasch D, Binns MM, Borges AS, Brama P, da Câmara Machado A, Distl O, Felicetti M, Fox-Clipsham L, Graves KT, Guérin G, Haase B, Hasegawa T, Hemmann K, Hill EW, Leeb T, Lindgren G, Lohi H, Lopes MS, McGivney BA, Mikko S, Orr N, Penedo MC, Piercy RJ, Raekallio M, Rieder S, Røed KH, Silvestrelli M, Swinburne J, Tozaki T, Vaudin M, M Wade C, McCue ME. Genetic diversity in the modern horse illustrated from genome-wide SNP data.. PLoS One 2013;8(1):e54997.
          pmc: PMC3559798pubmed: 23383025doi: 10.1371/journal.pone.0054997google scholar: lookup
        21. Petersen JL, Mickelson JR, Rendahl AK, Valberg SJ, Andersson LS, Axelsson J, Bailey E, Bannasch D, Binns MM, Borges AS, Brama P, da Câmara Machado A, Capomaccio S, Cappelli K, Cothran EG, Distl O, Fox-Clipsham L, Graves KT, Guérin G, Haase B, Hasegawa T, Hemmann K, Hill EW, Leeb T, Lindgren G, Lohi H, Lopes MS, McGivney BA, Mikko S, Orr N, Penedo MC, Piercy RJ, Raekallio M, Rieder S, Røed KH, Swinburne J, Tozaki T, Vaudin M, Wade CM, McCue ME. Genome-wide analysis reveals selection for important traits in domestic horse breeds.. PLoS Genet 2013;9(1):e1003211.
          pmc: PMC3547851pubmed: 23349635doi: 10.1371/journal.pgen.1003211google scholar: lookup
        22. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. PLINK: a tool set for whole-genome association and population-based linkage analyses.. Am J Hum Genet 2007 Sep;81(3):559-75.
          pmc: PMC1950838pubmed: 17701901doi: 10.1086/519795google scholar: lookup
        23. Rivero JL, Aguera E, Monterde JG, Rodriguez-Barbudo MV, Miro F. Comparative study of muscle fiber type composition in the middle gluteal muscle of Andalusian, Thoroughbred, and Arabian horses. Journal of Equine Veterinary Science 1989;9:337–40.
        24. Rivero JL, Ruz MC, Serrano AL, Diz AM. Effects of a 3 month endurance training programme on skeletal muscle histochemistry in Andalusian, Arabian and Anglo-Arabian horses.. Equine Vet J 1995 Jan;27(1):51-9.
          pubmed: 7774548doi: 10.1111/j.2042-3306.1995.tb03033.xgoogle scholar: lookup
        25. Ronéus M, Essén-Gustavsson B, Lindholm A, Persson SG. Skeletal muscle characteristics in young trained and untrained standardbred trotters.. Equine Vet J 1992 Jul;24(4):292-4.
          pubmed: 1499537doi: 10.1111/j.2042-3306.1992.tb02838.xgoogle scholar: lookup
        26. Royo LJ, Alvarez I, Beja-Pereira A, Molina A, Fernández I, Jordana J, Gómez E, Gutiérrez JP, Goyache F. The origins of Iberian horses assessed via mitochondrial DNA.. J Hered 2005 Nov-Dec;96(6):663-9.
          pubmed: 16251517doi: 10.1093/jhered/esi116google scholar: lookup
        27. Salerno MS, Thomas M, Forbes D, Watson T, Kambadur R, Sharma M. Molecular analysis of fiber type-specific expression of murine myostatin promoter.. Am J Physiol Cell Physiol 2004 Oct;287(4):C1031-40.
          pubmed: 15189813doi: 10.1152/ajpcell.00492.2003google scholar: lookup
        28. Scheet P, Stephens M. A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase.. Am J Hum Genet 2006 Apr;78(4):629-44.
          pmc: PMC1424677pubmed: 16532393doi: 10.1086/502802google scholar: lookup
        29. Spiller MP, Kambadur R, Jeanplong F, Thomas M, Martyn JK, Bass JJ, Sharma M. The myostatin gene is a downstream target gene of basic helix-loop-helix transcription factor MyoD.. Mol Cell Biol 2002 Oct;22(20):7066-82.
          pmc: PMC139803pubmed: 12242286doi: 10.1128/mcb.22.20.7066-7082.2002google scholar: lookup
        30. Stull CL, Albert WW. Comparison of muscle fiber types from 2-year-old fillies of the Belgian, Standardbred, Thoroughbred, Quarter horse and Welsh breeds.. J Anim Sci 1980 Aug;51(2):340-3.
          pubmed: 7440432doi: 10.2527/jas1980.512340xgoogle scholar: lookup
        31. Tozaki T, Hill EW, Hirota K, Kakoi H, Gawahara H, Miyake T, Sugita S, Hasegawa T, Ishida N, Nakano Y, Kurosawa M. A cohort study of racing performance in Japanese Thoroughbred racehorses using genome information on ECA18.. Anim Genet 2012 Feb;43(1):42-52.
          pubmed: 22221024doi: 10.1111/j.1365-2052.2011.02201.xgoogle scholar: lookup
        32. Tozaki T, Miyake T, Kakoi H, Gawahara H, Sugita S, Hasegawa T, Ishida N, Hirota K, Nakano Y. A genome-wide association study for racing performances in Thoroughbreds clarifies a candidate region near the MSTN gene.. Anim Genet 2010 Dec;41 Suppl 2:28-35.
          pubmed: 21070273doi: 10.1111/j.1365-2052.2010.02095.xgoogle scholar: lookup
        33. Willet P. An Introduction to the Thoroughbred. Stanley Paul Ltd; London: 1975.

        Citations

        This article has been cited 23 times.
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