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Anim Genet. 2017 Oct;48(5):551-559. doi: 10.1111/age.12580. Epub 2017 Jul 25.

The evolutionary history of the DMRT3 'Gait keeper' haplotype.

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Department of Medical Biochemistry and Microbiology, Uppsala University, SE-75123, Uppsala, Sweden.
Department of Animal Science, University of Florida, Gainesville, FL, 32611-0910, USA.
Department of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX, 77843-4458, USA.
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, SE-75007, Uppsala, Sweden.
Department of Animal Science, University of Tehran, 54500, Tehran, Iran.
Laboratorio de Investigación Aplicada, Cría Caballar de las Fuerzas Armadas, 14080, Cordoba, Spain.
Genetic Analysis Department, Laboratory of Racing Chemistry, Tochigi 320-0851, Utsunomiya, Japan.


A previous study revealed a strong association between the DMRT3:Ser301STOP mutation in horses and alternate gaits as well as performance in harness racing. Several follow-up studies have confirmed a high frequency of the mutation in gaited horse breeds and an effect on gait quality. The aim of this study was to determine when and where the mutation arose, to identify additional potential causal mutations and to determine the coalescence time for contemporary haplotypes carrying the stop mutation. We utilized sequences from 89 horses representing 26 breeds to identify 102 SNPs encompassing the DMRT3 gene that are in strong linkage disequilibrium with the stop mutation. These 102 SNPs were genotyped in an additional 382 horses representing 72 breeds, and we identified 14 unique haplotypes. The results provided conclusive evidence that DMRT3:Ser301STOP is causal, as no other sequence polymorphisms showed an equally strong association to locomotion traits. The low sequence diversity among mutant chromosomes demonstrated that they must have diverged from a common ancestral sequence within the last 10 000 years. Thus, the mutation occurred either just before domestication or more likely some time after domestication and then spread across the world as a result of selection on locomotion traits.


Przewalski's horse; domestication; donkey; horse; locomotion

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