Association of low race performance with mtDNA haplogroup L3b of Australian thoroughbred horses

Mitochondrial DNA (mtDNA) encodes the genes for respiratory chain sub-units that determine the efficiency of oxidative phosphorylation in mitochondria. The aim of this study was to determine if there were any haplogroups and variants in mtDNA that could be associated with athletic performance of Thoroughbred horses. The whole mitochondrial genomes of 53 maternally unrelated Australian Thoroughbred horses were sequenced and an association study was performed with the competition histories of 1123 horses within their maternal lineages. A horse mtDNA phylogenetic tree was constructed based on a total of 195 sequences (including 142 from previous reports). The association analysis showed that the sample groups with poor racing performance history were enriched in haplogroup L3b (<i>p</i> = .0003) and its sub-haplogroup L3b1a (<i>p</i> = .0007), while those that had elite performance appeared to be not significantly associated with haplogroups G2 and L3a1a1a (<i>p</i> &gt; .05). Haplogroup L3b and L3b1a bear two and five specific variants of which variant T1458C (site 345 in 16s rRNA) is the only potential functional variant. Furthermore, secondary reconstruction of 16s RNA showed considerable differences between two types of 16s RNA molecules (with and without T1458C), indicating a potential functional effect. The results suggested that haplogroup L3b, could have a negative association with elite performance. The T1458C mutation harboured in haplogroup L3b could have a functional effect that is related to poor athletic performance.

线粒体DNA（mitochondrial DNA，mtDNA）编码呼吸链亚基基因，这些基因决定线粒体氧化磷酸化的效率。本研究旨在探究线粒体DNA中是否存在与纯血马运动性能相关的单倍群及变异位点。本研究对53只母系无关的澳大利亚纯血马的完整线粒体基因组进行了测序，并针对1123只纯血马的母系谱系竞赛记录开展了关联分析。基于共计195条序列（其中142条来自既往研究报道）构建了马线粒体DNA系统发育树。关联分析结果显示，竞赛表现不佳的样本组在单倍群L3b（p = 0.0003）及其亚单倍群L3b1a（p = 0.0007）中富集；而具备顶级竞赛表现的样本组则与单倍群G2及L3a1a1a无显著关联（p > 0.05）。单倍群L3b与L3b1a分别携带2个和5个特异性变异位点，其中T1458C变异（对应16S rRNA的345位位点）是唯一具有潜在功能的变异位点。此外，对16S rRNA的二级结构重构结果显示，携带与不携带T1458C的两类16S rRNA分子存在显著差异，提示其具有潜在功能效应。本研究结果表明，单倍群L3b与顶级运动表现呈负相关。单倍群L3b所携带的T1458C突变可能产生与较差运动性能相关的功能效应。