OMIA 001715-9796 : Gaitedness in Equus caballus

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2012

Cross-species summary: All horses have three naturally occurring gaits, namely (in order of increasing speed) walk (four-beat, lateral), trot (two-beat, diagonal) and gallop (four-beat). Some breeds of horse exhibit more than one form of a particular gait, particularly at intermediate speeds. The alternate forms of intermediate-speed gait are classified as pace (a two-beat gait) or ambling (a four-beat gait), which can be regular (including the Tölt gait of Icelandic horses), lateral or diagonal. Some breeds are four-gaited (e.g. walk, tölt, trot and gallop) and others are five-gaited (e.g. walk, tölt, trot, gallop and pace). "Gaitedness" is the ability to exhibit alternate forms of gait. Gaited breeds included Icelandic horses, Kentucky mountain saddle horse, Missouri fox trotter, Paso fino, Peruvian paso, and Rocky mountain horse, Tennessee walking horse. Non-gaited breeds include Arabian horse, Gotland pony, North-Swedish draft horse, Przewalski’s horse, Shetland pony, Swedish ardennes, Swedish warmblood, and Thoroughbred. (Information taken from Andersson et al., 2012)

Molecular basis: From a genome scan of 70 Icelandic horses (40 that can pace and 30 that can't pace), Andersson et al. (2012) identified a 684kb region of chromosome ECA23 showing a very strong association with ability to pace. Resequencing within this region eventually identified the causative mutation as a nonsense mutation (Ser301STOP) in DMRT3 (currently listed as LOC100147177 in NCBI), which encodes a transcription factor with a DM domain. Detailed analysis of wild-type and DMRT3-null mice revealed that Dmrt3 has "a pivotal role for configuring the spinal circuits controlling stride in vertebrates". In horses, "The [DMRT3] mutation is permissive for the ability to perform alternate gaits and has a favourable effect on harness racing performance". In Icelandic horses, "homozygosity for the DMRT3 nonsense mutation is required for the ability to pace in this breed".

Prevalence: Promerová et al. (2014) "genotyped 4396 horses representing 141 horse breeds for the DMRT3 stop mutation. More than half (2749) of these horses also were genotyped for a SNP situated 32 kb upstream of the DMRT3 nonsense mutation because these two SNPs are in very strong linkage disequilibrium. We show that the DMRT3 mutation is present in 68 of the 141 genotyped horse breeds at a frequency ranging from 1% to 100%. We also show that the mutation is not limited to a geographical area, but is found worldwide. The breeds with a high frequency of the stop mutation (>50%) are either classified as gaited or bred for harness racing."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LOC100147177 doublesex and mab-3 related transcription factor 3 Equus caballus 23 NC_009166.3 (22378399..22392510) LOC100147177 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Numerous breeds Gaitedness LOC100147177 nonsense (stop-gain) 23 g.22999655C>A p.S301* 2012 22932389

References


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.
2018 Novoa-Bravo, M., Jäderkvist Fegraeus, K., Rhodin, M., Strand, E., García, L.F., Lindgren, G. :
Selection on the Colombian paso horse's gaits has produced kinematic differences partly explained by the DMRT3 gene. PLoS One 13:e0202584, 2018. Pubmed reference: 30118522. DOI: 10.1371/journal.pone.0202584.
2017 Jäderkvist Fegraeus, K., Hirschberg, I., Árnason, T., Andersson, L., Velie, B.D., Andersson, L.S., Lindgren, G. :
To pace or not to pace: a pilot study of four- and five-gaited Icelandic horses homozygous for the DMRT3 'Gait Keeper' mutation. Anim Genet 48:694-697, 2017. Pubmed reference: 29023800. DOI: 10.1111/age.12610.
Jäderkvist Fegraeus, K., Lawrence, C., Petäjistö, K., Johansson, M.K., Wiklund, M., Olsson, C., Andersson, L., Andersson, L.S., Røed, K.H., Ihler, C.F., Strand, E., Lindgren, G., Velie, B.D. :
Lack of significant associations with early career performance suggest no link between the DMRT3 "Gait Keeper" mutation and precocity in Coldblooded trotters. PLoS One 12:e0177351, 2017. Pubmed reference: 28489879. DOI: 10.1371/journal.pone.0177351.
Staiger, E.A., Almén, M.S., Promerová, M., Brooks, S., Cothran, E.G., Imsland, F., Jäderkvist Fegraeus, K., Lindgren, G., Mehrabani Yeganeh, H., Mikko, S., Vega-Pla, J.L., Tozaki, T., Rubin, C.J., Andersson, L. :
The evolutionary history of the DMRT3 'Gait keeper' haplotype. Anim Genet 48:551-559, 2017. Pubmed reference: 28741731. DOI: 10.1111/age.12580.
2016 Leroy, G., Besbes, B., Boettcher, P., Hoffmann, I., Capitan, A., Baumung, R. :
Rare phenotypes in domestic animals: unique resources for multiple applications. Anim Genet 47:141-53, 2016. Pubmed reference: 26662214. DOI: 10.1111/age.12393.
Regatieri, I.C., Eberth, J.E., Sarver, F., Lear, T.L., Bailey, E. :
Comparison of DMRT3 genotypes among American Saddlebred horses with reference to gait. Anim Genet 47:603-5, 2016. Pubmed reference: 27295976. DOI: 10.1111/age.12458.
Wutke, S., Andersson, L., Benecke, N., Sandoval-Castellanos, E., Gonzalez, J., Hallsson, J.H., Lõugas, L., Magnell, O., Morales-Muniz, A., Orlando, L., Pálsdóttir, A.H., Reissmann, M., Muñoz-Rodríguez, M.B., Ruttkay, M., Trinks, A., Hofreiter, M., Ludwig, A. :
The origin of ambling horses. Curr Biol 26:R697-9, 2016. Pubmed reference: 27505236. DOI: 10.1016/j.cub.2016.07.001.
2015 Han, H., Zeng, L., Dang, R., Lan, X., Chen, H., Lei, C. :
The DMRT3 gene mutation in Chinese horse breeds. Anim Genet 46:341-2, 2015. Pubmed reference: 25917306. DOI: 10.1111/age.12292.
Jäderkvist Fegraeus, K., Johansson, L., Mäenpää, M., Mykkänen, A., Andersson, L.S., Velie, B.D., Andersson, L., Árnason, T., Lindgren, G. :
Different DMRT3 Genotypes Are Best Adapted for Harness Racing and Riding in Finnhorses. J Hered 106:734-40, 2015. Pubmed reference: 26285915. DOI: 10.1093/jhered/esv062.
Patterson, L., Staiger, E.A., Brooks, S.A. :
DMRT3 is associated with gait type in Mangalarga Marchador horses, but does not control gait ability. Anim Genet 46:213-5, 2015. Pubmed reference: 25690906. DOI: 10.1111/age.12273.
2014 Jäderkvist, K., Andersson, L.S., Johansson, A.M., Árnason, T., Mikko, S., Eriksson, S., Andersson, L., Lindgren, G. :
The DMRT3 'Gait keeper' mutation affects performance of Nordic and Standardbred trotters. J Anim Sci 92:4279-86, 2014. Pubmed reference: 25085403. DOI: 10.2527/jas.2014-7803.
Promerová, M., Andersson, L.S., Juras, R., Penedo, M.C., Reissmann, M., Tozaki, T., Bellone, R., Dunner, S., Hořín, P., Imsland, F., Imsland, P., Mikko, S., Modrý, D., Roed, K.H., Schwochow, D., Vega-Pla, J.L., Mehrabani-Yeganeh, H., Yousefi-Mashouf, N., G Cothran, E., Lindgren, G., Andersson, L. :
Worldwide frequency distribution of the 'Gait keeper' mutation in the DMRT3 gene. Anim Genet 45:274-82, 2014. Pubmed reference: 24444049. DOI: 10.1111/age.12120.
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 Andersson, L.S., Larhammar, M., Memic, F., Wootz, H., Schwochow, D., Rubin, C.J., Patra, K., Arnason, T., Wellbring, L., Hjälm, G., Imsland, F., Petersen, J.L., McCue, M.E., Mickelson, J.R., Cothran, G., Ahituv, N., Roepstorff, L., Mikko, S., Vallstedt, A., Lindgren, G., Andersson, L., Kullander, K. :
Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice. Nature 488:642-6, 2012. Pubmed reference: 22932389. DOI: 10.1038/nature11399.
1987 Cothran, E.G., MacCluer, J.W., Weitkamp, L.R., Bailey, E. :
Genetic differentiation associated with gait within American standardbred horses. Anim Genet 18:285-96, 1987. Pubmed reference: 3481678.
1907 Bateson, W. :
Trotting and pacing: dominant and recessive? Science 26:908, 1907.

Edit History


  • Created by Frank Nicholas on 30 Aug 2012
  • Changed by Frank Nicholas on 30 Aug 2012
  • Changed by Frank Nicholas on 31 Aug 2012
  • Changed by Frank Nicholas on 01 Feb 2014
  • Changed by Frank Nicholas on 21 Aug 2018