OMIA:001538-9796 : Racing distance in Equus caballus (horse)

Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 614160 (trait) , 601788 (gene)

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2015

Inheritance: Not surprisingly, this trait (Racing distance) is actually a quantitative trait, variation in which is determined by the combined effect of an unknown number of loci (the MSTN gene being one of these) plus an unknown number of non-genetic factors (Hill et al., 2019).

Molecular basis: Following a GWAS, Hill et al. (2010) reported "a sequence variant (g.66493737C>T) in the equine myostatin (MSTN) gene as the most powerful predictor of optimum racing distance for Thoroughbred racehorses." Santagostino et al. (2015) reported a SINE insertion upstream of the MSTN gene that is in strong linkage disequilibrium with the g.66493737C>T SNP. Rooney et al. (2018) reported that "In a large cohort of Thoroughbreds, we observed a complete concordance between the SNP and the SINE insertion. By means of in vitro assays in C2C12 myoblasts, we isolated the SNP variant from the SINE polymorphism and showed the latter is exclusively responsible for adversely affecting transcription initiation and gene expression thereby limiting myostatin protein production. Mapping the MSTN transcription start site in horse skeletal muscle likewise revealed anomalous transcription initiation in the presence of the SINE insertion. Our data provides mechanistic evidence that the SINE insertion uniquely accounts for the MSTN “speed gene” effect on race distance aptitude in the Thoroughbred horse." Consequently, the SNP has been removed from the OMIA table of likely causal variants below. Moro et al. (2020) knocked out the myostatin gene (MSTN) using CRISPR/Cas9 and generated edited equine embryos. (This study involves genetically modified organisms (GMO)). Use of gene-editing technologies in this context may be considered as 'gene-doping' (Wilkin et al., 2017; Tozaki et al., 2020).

Clinical features: Kis et al. (2023) investigated "whether myostatin genotypes [OMIAvariantID:443] are associated with muscular development and cardiac variables of Thoroughbreds. Echocardiography and muscular ultrasonography were performed on three groups having C/C, C/T, and T/T genotypes, respectively. Each group consisted of 22 animals. ... Fascicle length of anconeus and thickness of triceps brachii muscles showed significant differences between C/C and T/T genotypes ... . According to the primary outcome, there are associations between myostatin genotypes and cardiac variables."

Breeds: Quarter Horse (Horse) (VBO_0001057), Thoroughbred (Horse) (VBO_0001083).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MSTN myostatin Equus caballus 18 NC_009161.3 (66610122..66605150) MSTN Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
443 Racing distance, association with MSTN insertion, gross (>20) Naturally occurring variant 18 A "227 bp SINE insertion positioned upstream of exon 1" 2015 26503543

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001538-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 Azcona, F., Karlau, A., Trigo, P., Molina, A., Demyda-Peyrás, S. :
The use of genomic assisted selection could allow early selection among Thoroughbreds and Polo Argentino horses for practicing polo. J Equine Vet Sci 138:105098, 2024. Pubmed reference: 38763367. DOI: 10.1016/j.jevs.2024.105098.
Berglund, P., Andonov, S., Strandberg, E., Eriksson, S. :
Should performance at different race lengths be treated as genetically distinct traits in Coldblooded trotters? J Anim Breed Genet 141:220-234, 2024. Pubmed reference: 38009381. DOI: 10.1111/jbg.12837.
Durward-Akhurst, S.A., Marlowe, J.L., Schaefer, R.J., Springer, K., Grantham, B., Carey, W.K., Bellone, R.R., Mickelson, J.R., McCue, M.E. :
Predicted genetic burden and frequency of phenotype-associated variants in the horse. Sci Rep 14:8396, 2024. Pubmed reference: 38600096. DOI: 10.1038/s41598-024-57872-8.
2023 Haughan, J., Ortved, K.F., Robinson, M.A. :
Administration and detection of gene therapy in horses: A systematic review. Drug Test Anal 15:143-162, 2023. Pubmed reference: 36269665. DOI: 10.1002/dta.3394.
Kis, J., Rózsa, L., Husvéth, F., Mezőszentgyörgyi, D., Kovács, S., Bakos, Z., Zsolnai, A., Anton, I. :
Association of myostatin gene polymorphism with echocardiographic and muscular ultrasonographic measurements in Hungarian thoroughbreds horses. Res Vet Sci 160:45-49, 2023. Pubmed reference: 37267767. DOI: 10.1016/j.rvsc.2023.05.009.
Maniego, J., Giles, O., Hincks, P., Stewart, G., Proudman, C., Ryder, E. :
Long-read sequencing assays designed to detect potential gene editing events in the myostatin gene revealed distinct haplotype signatures in the Thoroughbred horse population. Anim Genet 54:470-482, 2023. Pubmed reference: 37288798. DOI: 10.1111/age.13332.
Saito, I., Nakamura, K., Tozaki, T., Hano, K., Takasu, M. :
Genetic characterization of Japanese native horse breeds by genotyping variants that are associated with phenotypic traits. J Equine Sci 34:115-120, 2023. Pubmed reference: 38274555. DOI: 10.1294/jes.34.115.
Sharman, P., Wilson, A.J. :
Genetic improvement of speed across distance categories in thoroughbred racehorses in Great Britain. Heredity (Edinb) 131:79-85, 2023. Pubmed reference: 37244934. DOI: 10.1038/s41437-023-00623-8.
2021 O'Hara, V., Cowan, A., Riddell, D., Massey, C., Martin, J., Piercy, R.J. :
A highly prevalent SINE mutation in the myostatin (MSTN) gene promoter is associated with low circulating myostatin concentration in Thoroughbred racehorses. Sci Rep 11:7916, 2021. Pubmed reference: 33846367. DOI: 10.1038/s41598-021-86783-1.
2020 Moro, L.N., Viale, D.L., Bastón, J.I., Arnold, V., Suvá, M., Wiedenmann, E., Olguín, M., Miriuka, S., Vichera, G. :
Generation of myostatin edited horse embryos using CRISPR/Cas9 technology and somatic cell nuclear transfer. Sci Rep 10:15587, 2020. Pubmed reference: 32973188. DOI: 10.1038/s41598-020-72040-4.
Nguyen, T.B., Paul, R.C., Okuda, Y., LE, T.N.A., Pham, P.T.K., Kaissar, K.J., Kazhmurat, A., Bibigul, S., Bakhtin, M., Kazymbet, P., Maratbek, S.Z., Meldebekov, A., Nishibori, M., Ibi, T., Tsuji, T., Kunieda, T. :
Genetic characterization of Kushum horses in Kazakhstan based on haplotypes of mtDNA and Y chromosome, and genes associated with important traits of the horses. J Equine Sci 31:35-43, 2020. Pubmed reference: 33061782. DOI: 10.1294/jes.31.35.
Tozaki, T., Ohnuma, A., Kikuchi, M., Ishige, T., Kakoi, H., Hirota, K.I., Hamilton, N.A., Kusano, K., Nagata, S.I. :
Whole-genome resequencing using genomic DNA extracted from horsehair roots for gene-doping control in horse sports. J Equine Sci 31:75-83, 2020. Pubmed reference: 33376443. DOI: 10.1294/jes.31.75.
2019 Fages, A., Hanghøj, K., Khan, N., Gaunitz, C., Seguin-Orlando, A., Leonardi, M., McCrory Constantz, C., Gamba, C., Al-Rasheid, K.A.S., Albizuri, S., Alfarhan, A.H., Allentoft, M., Alquraishi, S., Anthony, D., Baimukhanov, N., Barrett, J.H., Bayarsaikhan, J., Benecke, N., Bernáldez-Sánchez, E., Berrocal-Rangel, L., Biglari, F., Boessenkool, S., Boldgiv, B., Brem, G., Brown, D., Burger, J., Crubézy, E., Daugnora, L., Davoudi, H., de Barros Damgaard, P., de Los Ángeles de Chorro Y de Villa-Ceballos, M., Deschler-Erb, S., Detry, C., Dill, N., do Mar Oom, M., Dohr, A., Ellingvåg, S., Erdenebaatar, D., Fathi, H., Felkel, S., Fernández-Rodríguez, C., García-Viñas, E., Germonpré, M., Granado, J.D., Hallsson, J.H., Hemmer, H., Hofreiter, M., Kasparov, A., Khasanov, M., Khazaeli, R., Kosintsev, P., Kristiansen, K., Kubatbek, T., Kuderna, L., Kuznetsov, P., Laleh, H., Leonard, J.A., Lhuillier, J., Liesau von Lettow-Vorbeck, C., Logvin, A., Lõugas, L., Ludwig, A., Luis, C., Arruda, A.M., Marques-Bonet, T., Matoso Silva, R., Merz, V., Mijiddorj, E., Miller, B.K., Mochlov, O., Mohaseb, F.A., Morales, A., Nieto-Espinet, A., Nistelberger, H., Onar, V., Pálsdóttir, A.H., Pitulko, V., Pitskhelauri, K., Pruvost, M., Rajic Sikanjic, P., Rapan Papeša, A., Roslyakova, N., Sardari, A., Sauer, E., Schafberg, R., Scheu, A., Schibler, J., Schlumbaum, A., Serrand, N., Serres-Armero, A., Shapiro, B., Sheikhi Seno, S., Shevnina, I., Shidrang, S., Southon, J., Star, B., Sykes, N., Taheri, K., Taylor, W., Teegen, W.R., Trbojević Vukičević, T., Trixl, S., Tumen, D., Undrakhbold, S., Usmanova, E., Vahdati, A., Valenzuela-Lamas, S., Viegas, C., Wallner, B., Weinstock, J., Zaibert, V., Clavel, B., Lepetz, S., Mashkour, M., Helgason, A., Stefánsson, K., Barrey, E., Willerslev, E., Outram, A.K., Librado, P., Orlando, L. :
Tracking five millennia of horse management with extensive ancient genome time series. Cell 177:1419-1435, 2019. Pubmed reference: 31056281. DOI: 10.1016/j.cell.2019.03.049.
Hill, E.W., McGivney, B.A., Rooney, M., Katz, L.M., Parnell, A., MacHugh, D.E. :
The contribution of myostatin (MSTN) and additional modifying genetic loci to race distance aptitude in Thoroughbred horses racing in different geographic regions. Equine Vet J 51:625-633, 2019. Pubmed reference: 30604488. DOI: 10.1111/evj.13058.
2018 Farries, G., McGettigan, P.A., Gough, K.F., McGivney, B.A., MacHugh, D.E., Katz, L.M., Hill, E.W. :
Genetic contributions to precocity traits in racing Thoroughbreds. Anim Genet 49:193-204, 2018. Pubmed reference: 29230835. DOI: 10.1111/age.12622.
Padilha, F.G.F., El-Jaick, K.B., de Castro, L., Moreira, A.D.S., Ferreira, A.M.R. :
MSTN gene in Brazilian sport horses. J Equine Sci 29:21-24, 2018. Pubmed reference: 29593445. DOI: 10.1294/jes.29.21.
Rooney, M.F., Hill, E.W., Kelly, V.P., Porter, R.K. :
The "speed gene" effect of myostatin arises in Thoroughbred horses due to a promoter proximal SINE insertion. PLoS One 13:e0205664, 2018. Pubmed reference: 30379863. DOI: 10.1371/journal.pone.0205664.
2017 Okuda, Y., Moe, H.H., Moe, K.K., Shimizu, Y., Nishioka, K., Shimogiri, T., Mannen, H., Kanemaki, M., Kunieda, T. :
Genotype distribution and allele frequencies of the genes associated with body composition and locomotion traits in Myanmar native horses. Anim Sci J 88:1198-1203, 2017. Pubmed reference: 27925399. DOI: 10.1111/asj.12756.
Rooney, M.F., Porter, R.K., Katz, L.M., Hill, E.W. :
Skeletal muscle mitochondrial bioenergetics and associations with myostatin genotypes in the Thoroughbred horse. PLoS One 12:e0186247, 2017. Pubmed reference: 29190290. DOI: 10.1371/journal.pone.0186247.
Serpa, P.B., Garbade, P., Natalini, C.C., Pires, A.R., Tisotti, T.M. :
High-resolution melting analysis for detection of a single-nucleotide polymorphism and the genotype of the myostatin gene in warmblood horses. Am J Vet Res 78:63-68, 2017. Pubmed reference: 28029290. DOI: 10.2460/ajvr.78.1.63.
Tozaki, T., Kikuchi, M., Kakoi, H., Hirota, K.I., Nagata, S.I. :
A genome-wide association study for body weight in Japanese Thoroughbred racehorses clarifies candidate regions on chromosomes 3, 9, 15, and 18. J Equine Sci 28:127-134, 2017. Pubmed reference: 29270069. DOI: 10.1294/jes.28.127.
Wilkin, T., Baoutina, A., Hamilton, N. :
Equine performance genes and the future of doping in horseracing. Drug Test Anal 9:1456-1471, 2017. Pubmed reference: 28349656. DOI: 10.1002/dta.2198.
2016 François, L., Jäderkvist Fegraeus, K., Eriksson, S., Andersson, L.S., Tesfayonas, Y.G., Viluma, A., Imsland, F., Buys, N., Mikko, S., Lindgren, G., Velie, B.D. :
Conformation Traits and Gaits in the Icelandic Horse are Associated with Genetic Variants in Myostatin (MSTN). J Hered 107:431-7, 2016. Pubmed reference: 27208149. DOI: 10.1093/jhered/esw031.
Negro Rama, S., Valera, M., Membrillo, A., Gómez, M.D., Solé, M., Menendez-Buxadera, A., Anaya, G., Molina, A. :
Quantitative analysis of short- and long-distance racing performance in young and adult horses and association analysis with functional candidate genes in Spanish Trotter horses. J Anim Breed Genet 133:347-56, 2016. Pubmed reference: 26991374. DOI: 10.1111/jbg.12208.
2015 Santagostino, M., Khoriauli, L., Gamba, R., Bonuglia, M., Klipstein, O., Piras, F.M., Vella, F., Russo, A., Badiale, C., Mazzagatti, A., Raimondi, E., Nergadze, S.G., Giulotto, E. :
Genome-wide evolutionary and functional analysis of the Equine Repetitive Element 1: an insertion in the myostatin promoter affects gene expression. BMC Genet 16:126, 2015. Pubmed reference: 26503543. DOI: 10.1186/s12863-015-0281-1.
Shin, D.H., Lee, J.W., Park, J.E., Choi, I.Y., Oh, H.S., Kim, H.J., Kim, H. :
Multiple Genes Related to Muscle Identified through a Joint Analysis of a Two-stage Genome-wide Association Study for Racing Performance of 1,156 Thoroughbreds. Asian-Australas J Anim Sci 28:771-81, 2015. Pubmed reference: 25925054. DOI: 10.5713/ajas.14.0008.
van den Hoven, R., Gür, E., Schlamanig, M., Hofer, M., Onmaz, A.C., Steinborn, R. :
Putative regulation mechanism for the MSTN gene by a CpG island generated by the SINE marker Ins227bp. BMC Vet Res 11:138, 2015. Pubmed reference: 26100061. DOI: 10.1186/s12917-015-0428-3.
2014 Dall'Olio, S., Scotti, E., Fontanesi, L., Tassinari, M. :
Analysis of the 227 bp short interspersed nuclear element (SINE) insertion of the promoter of the myostatin (MSTN) gene in different horse breeds. Vet Ital 50:193-7, 2014. Pubmed reference: 25273961. DOI: 10.12834/VetIt.61.178.3.
Petersen, J.L., Valberg, S.J., Mickelson, J.R., McCue, M.E. :
Haplotype diversity in the equine myostatin gene with focus on variants associated with race distance propensity and muscle fiber type proportions. Anim Genet 45:827-35, 2014. Pubmed reference: 25160752. DOI: 10.1111/age.12205.
2013 Petersen, J.L., Mickelson, J.R., Rendahl, A.K., Valberg, S.J., Andersson, L.S., Axelsson, J., Bailey, E., Bannasch, D., Binns, M.M., Borges, A.S., Brama, P., da Câmara Machado, A., Capomaccio, S., Cappelli, K., Cothran, E.G., Distl, O., Fox-Clipsham, L., Graves, K.T., Guérin, G., Haase, B., Hasegawa, T., Hemmann, K., Hill, E.W., Leeb, T., Lindgren, G., Lohi, H., Lopes, M.S., McGivney, B.A., Mikko, S., Orr, N., Penedo, M.C., Piercy, R.J., Raekallio, M., Rieder, S., Røed, K.H., Swinburne, J., Tozaki, T., Vaudin, M., Wade, C.M., McCue, M.E. :
Genome-wide analysis reveals selection for important traits in domestic horse breeds. PLoS Genet 9:e1003211, 2013. Pubmed reference: 23349635. DOI: 10.1371/journal.pgen.1003211.
2012 Bower, M.A., McGivney, B.A., Campana, M.G., Gu, J., Andersson, L.S., Barrett, E., Davis, C.R., Mikko, S., Stock, F., Voronkova, V., Bradley, D.G., Fahey, A.G., Lindgren, G., MacHugh, D.E., Sulimova, G., Hill, E.W. :
The genetic origin and history of speed in the Thoroughbred racehorse. Nat Commun 3:643, 2012. Pubmed reference: 22273681. DOI: 10.1038/ncomms1644.
Hill, E.W., Ryan, D.P., MacHugh, D.E. :
Horses for courses: a DNA-based test for race distance aptitude in thoroughbred racehorses. Recent Pat DNA Gene Seq 6:203-8, 2012. Pubmed reference: 22845060. DOI: 10.2174/187221512802717277.
Hill, E.W., Fonseca, R.G., McGivney, B.A., Gu, J., MacHugh, D.E., Katz, L.M. :
MSTN genotype (g.66493737C/T) association with speed indices in Thoroughbred racehorses. J Appl Physiol 112:86-90, 2012. Pubmed reference: 22016373. DOI: 10.1152/japplphysiol.00793.2011.
McGivney, B.A., Browne, J.A., Fonseca, R.G., Katz, L.M., Machugh, D.E., Whiston, R., Hill, E.W. :
MSTN genotypes in Thoroughbred horses influence skeletal muscle gene expression and racetrack performance. Anim Genet 43:810-2, 2012. Pubmed reference: 22497477. DOI: 10.1111/j.1365-2052.2012.02329.x.
Tozaki, T., Hill, E.W., 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 43:42-52, 2012. Pubmed reference: 22221024. DOI: 10.1111/j.1365-2052.2011.02201.x.
2010 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 41 Suppl 2:154-8, 2010. Pubmed reference: 21070290. DOI: 10.1111/j.1365-2052.2010.02126.x.
Hill, E.W., McGivney, B.A., Gu, J., Whiston, R., Machugh, D.E. :
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 11:552, 2010. Pubmed reference: 20932346. DOI: 10.1186/1471-2164-11-552.
Hill, E.W., Gu, J., Eivers, S.S., Fonseca, R.G., McGivney, B.A., Govindarajan, P., Orr, N., Katz, L.M., MacHugh, D.E., MacHugh, D. :
A sequence polymorphism in MSTN predicts sprinting ability and racing stamina in thoroughbred horses. PLoS One 5:e8645, 2010. Pubmed reference: 20098749. DOI: 10.1371/journal.pone.0008645.
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 41 Suppl 2:28-35, 2010. Pubmed reference: 21070273. DOI: 10.1111/j.1365-2052.2010.02095.x.
2009 Gu, J., Orr, N., Park, S.D., Katz, L.M., Sulimova, G., MacHugh, D.E., Hill, E.W. :
A genome scan for positive selection in thoroughbred horses. PLoS One 4:e5767, 2009. Pubmed reference: 19503617. DOI: 10.1371/journal.pone.0005767.

Edit History

  • Created by Frank Nicholas on 01 Dec 2010
  • Changed by Frank Nicholas on 29 Sep 2015
  • Changed by Frank Nicholas on 05 Feb 2019
  • Changed by Frank Nicholas on 11 Feb 2019
  • Changed by Imke Tammen2 on 14 Aug 2021
  • Changed by Imke Tammen2 on 01 Sep 2021
  • Changed by Imke Tammen2 on 15 Feb 2023
  • Changed by Imke Tammen2 on 04 Jun 2023
  • Changed by Imke Tammen2 on 13 Jun 2024