A genome-wide SNP-association study confirms a sequence variant (g.66493737C>T) in the equine myostatin (MSTN) gene as the most powerful predictor of optimum racing distance for Thoroughbred racehorses.
A genome-wide SNP-association study confirms a sequence variant (g.66493737C>T) in the equine myostatin (MSTN) gene as the most powerful predictor of optimum racing distance for Thoroughbred racehorses.
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一项全基因组SNP - 关联研究证实了马肌生抑素（MSTN）基因中的序列变体（G.66493737C> t）是纯种赛体的最佳赛车距离的最强大预测指标。
DOI：
10.1186/1471-2164-11-552
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发表时间：
2010-10-11
期刊：
影响因子：
4.4
通讯作者：
Machugh DE
中科院分区：
文献类型：
--
作者：
Hill EW;McGivney BA;Gu J;Whiston R;Machugh DE
几个世纪以来，纯种马一直被选为速度和耐力的特征。人们普遍认为，身体和生理特征的遗传变异是导致个体比赛距离能力变异的原因，肌肉表型尤其重要。使用马SNP 50珠芯片基因分型阵列在n = 118匹在比赛距离能力上不同的纯种赛马中进行全基因组SNP关联研究。在基于队列的关联检验中，我们评估了适合短距离（≤ 8 f）和中长距离（> 8 f）比赛的马之间40，977个SNP的基因型变异。最显著的SNP位于18号染色体上：BIEC 2 -417495 ~690 kb，来自编码肌肉生长抑制素（MSTs）的基因[Punadj. = 6.96 × 10-6]。考虑到最佳种族距离作为定量表型，观察到在染色体18（chr 18：65809482-67545806）上的关联峰，其包括包含1.7 Mb区域的8个SNP。再次，类似于基于群组的分析，最显著的SNP是BIEC 2 -417495（Punadj. = 1.61 × 10-9; PBonf. = 6.58 × 10-5）。在一项候选基因研究中，我们先前报道了与纯种马最佳比赛距离相关的MSNs SNP（g.66493737C>T）;然而，其功能和全基因组相关性尚不确定。在MSTK基因的侧翼区域中的另外的重新测序揭示了4个新的3' UTR SNP和在5' UTR启动子序列中的227 bp SINE插入多态性。连锁不平衡在g.66493737C>T和BIEC 2 -417495之间最高（r2 = 0.86）。比较关联检验一致地证明了g.66493737 C>T SNP在预测赛马的距离能力倾向中是上级变体（g.66493737 C>T，P = 1.02 × 10-10; BIEC 2 -417495，Punadj. = 1.61 × 10-9）。将需要进行功能研究，以确定这种多态性是否影响假定的转录因子结合，并引起基因和蛋白质表达的变化。尽管如此，这项研究表明，g.66493737C>T SNP提供了最强大的遗传标记预测的比赛距离的能力在纯种。
Thoroughbred horses have been selected for traits contributing to speed and stamina for centuries. It is widely recognized that inherited variation in physical and physiological characteristics is responsible for variation in individual aptitude for race distance, and that muscle phenotypes in particular are important. A genome-wide SNP-association study for optimum racing distance was performed using the EquineSNP50 Bead Chip genotyping array in a cohort of n = 118 elite Thoroughbred racehorses divergent for race distance aptitude. In a cohort-based association test we evaluated genotypic variation at 40,977 SNPs between horses suited to short distance (≤ 8 f) and middle-long distance (> 8 f) races. The most significant SNP was located on chromosome 18: BIEC2-417495 ~690 kb from the gene encoding myostatin (MSTN) [Punadj. = 6.96 × 10-6]. Considering best race distance as a quantitative phenotype, a peak of association on chromosome 18 (chr18:65809482-67545806) comprising eight SNPs encompassing a 1.7 Mb region was observed. Again, similar to the cohort-based analysis, the most significant SNP was BIEC2-417495 (Punadj. = 1.61 × 10-9; PBonf. = 6.58 × 10-5). In a candidate gene study we have previously reported a SNP (g.66493737C>T) in MSTN associated with best race distance in Thoroughbreds; however, its functional and genome-wide relevance were uncertain. Additional re-sequencing in the flanking regions of the MSTN gene revealed four novel 3' UTR SNPs and a 227 bp SINE insertion polymorphism in the 5' UTR promoter sequence. Linkage disequilibrium was highest between g.66493737C>T and BIEC2-417495 (r2 = 0.86). Comparative association tests consistently demonstrated the g.66493737C>T SNP as the superior variant in the prediction of distance aptitude in racehorses (g.66493737C>T, P = 1.02 × 10-10; BIEC2-417495, Punadj. = 1.61 × 10-9). Functional investigations will be required to determine whether this polymorphism affects putative transcription-factor binding and gives rise to variation in gene and protein expression. Nonetheless, this study demonstrates that the g.66493737C>T SNP provides the most powerful genetic marker for prediction of race distance aptitude in Thoroughbreds.
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影响因子：
5
作者：
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通讯作者：
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影响因子：
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