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Worldwide frequency distribution of the ‘Gait keeper’ mutation in the DMRT3 gene
Authors:R Juras  M C T Penedo  M Reissmann  T Tozaki  R Bellone  S Dunner  P Ho?ín  F Imsland  P Imsland  S Mikko  D Modrý  K H Roed  D Schwochow  J L Vega‐Pla  H Mehrabani‐Yeganeh  N Yousefi‐Mashouf  E G Cothran  G Lindgren  L Andersson
Institution:1. Department of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, , College Station, TX 77843‐4458, USA;2. Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, , Davis, CA 95616, USA;3. Breeding Biology and Molecular Genetics, Faculty of Agriculture and Horticulture, Humboldt University, , 10115, Berlin, Germany;4. Genetic Analysis Department, Laboratory of Racing Chemistry, , Utsunomiya, Tochigi 320‐0851, Japan;5. Department of Biology, University of Tampa, , Tampa, 33606, USA;6. Veterinary Faculty, Universidad Complutense de Madrid, , 28040, Madrid, Spain;7. Institute of Animal Genetics, CEITEC, University of Veterinary and Pharmaceutical sciences, , 612 42, Brno, Czech Republic;8. Department of Medical Biochemistry and Microbiology, Uppsala University, , SE‐75123, Uppsala, Sweden;9. Menntaskolinn vid Hamrahlid, , Hamrahlid 10, Iceland;10. Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, , SE‐75007, Uppsala, Sweden;11. Department of Pathology and Parasitology, Faculty of Veterinary Medicine, CEITEC, University of Veterinary and Pharmaceutical sciences, , 612 42, Brno, Czech Republic;12. Institute of Parasitology, Biology Centre of Academy of Sciences of the Czech Republic, v.v.i., , 612 42, ?eské Budějovice, Czech Republic;13. Department of Basic Sciences & Aquatic Medicine, Norwegian School of Veterinary Science, , N‐0033, Oslo, Norway;14. Laboratorio de Investigación Aplicada, Cría Caballar de las Fuerzas Armadas, , 14080, Cordoba, Spain;15. Department of Animal Science, University of Tehran, , 54500, Tehran, Iran
Abstract:For centuries, domestic horses have represented an important means of transport and served as working and companion animals. Although their role in transportation is less important today, many horse breeds are still subject to intense selection based on their pattern of locomotion. A striking example of such a selected trait is the ability of a horse to perform additional gaits other than the common walk, trot and gallop. Those could be four‐beat ambling gaits, which are particularly smooth and comfortable for the rider, or pace, used mainly in racing. Gaited horse breeds occur around the globe, suggesting that gaitedness is an old trait, selected for in many breeds. A recent study discovered that a nonsense mutation in DMRT3 has a major impact on gaitedness in horses and is present at a high frequency in gaited breeds and in horses bred for harness racing. Here, we report a study of the worldwide distribution of this mutation. We 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.
Keywords:ambling  domestication  horse  locomotion  pace  running walk
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