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Worldwide frequency distribution of the 'Gait keeper' mutation in the DMRT3 gene
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
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2014 (English)In: Animal Genetics, ISSN 0268-9146, E-ISSN 1365-2052, Vol. 45, no 2, 274-282 p.Article in journal (Refereed) Published
Abstract [en]

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 32kb 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.

Place, publisher, year, edition, pages
2014. Vol. 45, no 2, 274-282 p.
Keyword [en]
ambling, domestication, horse, locomotion, pace, running walk
National Category
Medical and Health Sciences Natural Sciences
URN: urn:nbn:se:uu:diva-224333DOI: 10.1111/age.12120ISI: 000332140000014OAI: oai:DiVA.org:uu-224333DiVA: diva2:717069

De två första författarna delar första författarskapet.

Available from: 2014-05-14 Created: 2014-05-09 Last updated: 2015-06-08Bibliographically approved

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Imsland, FreyjaAndersson, Leif
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Department of Medical Biochemistry and Microbiology
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