Worldwide frequency distribution of the 'Gait keeper' mutation in the DMRT3 gene
Worldwide frequency distribution of the 'Gait keeper' mutation in the DMRT3 gene
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DOI：
10.1111/age.12120
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发表时间：
2014-04-01
期刊：
影响因子：
2.4
通讯作者：
Andersson, L.
中科院分区：
文献类型：
--
作者：
Promerova, M.;Andersson, L. S.;Andersson, L.
几个世纪以来，家马一直是重要的运输工具，也是工作动物和伴侣动物。尽管如今它们在运输中的作用不再那么重要，但许多马品种仍然根据其运动模式受到严格的选择。这种选定特征的一个显着例子是马能够执行除常见步行、小跑和疾驰之外的其他步态。这些可能是四节拍的缓步步态，对于骑手来说特别平稳和舒适，或者是主要用于赛车的步态。步态马品种遍布全球，这表明步态是一种古老的特征，在许多品种中都有选择。最近的一项研究发现，DMRT3 中的无义突变对马的步态有重大影响，并且在步态品种和赛马比赛中频繁出现。在这里，我们报告了对该突变的全球分布的研究。我们对代表 141 个马品种的 4396 匹马进行了 DMRT3 终止突变的基因分型。这些马中超过一半 (2749) 还对位于 DMRT3 无义突变上游 32kb 的 SNP 进行了基因分型，因为这两个 SNP 处于非常强的连锁不平衡状态。我们发现 DMRT3 突变存在于 141 个基因型马品种中的 68 个中，频率范围为 1% 至 100%。我们还表明，这种突变并不局限于某个地理区域，而是在全世界范围内都有发现。具有高频率停止突变（> 50％）的品种被分类为步态或为挽具比赛而培育。
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.