Haplotype diversity in the equine myostatin gene with focus on variants associated with race distance propensity and muscle fiber type proportions.
Haplotype diversity in the equine myostatin gene with focus on variants associated with race distance propensity and muscle fiber type proportions.
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DOI：
10.1111/age.12205
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发表时间：
2014-12
期刊：
影响因子：
2.4
通讯作者：
McCue ME
中科院分区：
文献类型：
--
作者：
Petersen JL;Valberg SJ;Mickelson JR;McCue ME
马肌肉生长抑制素基因（MSTN）的两个变异，包括第一个内含子的T/C SNP替换和启动子中227 bp的SINE插入，与四分之一马（QH）的肌纤维类型比例和纯种马（TB）的赛跑距离倾向预测有关。来自这些位点的基因型，以及围绕MSTN的另外18个变体，在14个品种的301匹马中进行了检测，以评估单倍型关系和多样性。14个品种中有12个品种含有内含子1的C等位基因，频率为0.27；在5个品种中均有SINE，但在TB和QH中比较常见（分别为0.73和0.48）。单倍型数据表明，SINE插入与含有内含子1c等位基因的单倍型是同时代的，并且产生于包含内含子1c等位基因的单倍型上。臀肌活检显示，内含子1c等位基因和SINE与较高比例的2B型纤维和较低比例的1型纤维显著相关。然而，在不存在SINE的比利时马中，内含子1 SNP与纤维类型比例无关，并且对比利时、TB和QH品种的纤维类型比例的评估表明，在评估没有SINE变体的马时，品种对纤维类型比例的显着影响被否定。这些数据表明，是sin而不是内含子1 SNP驱动了观察到的肌纤维类型特征，并且是短距离比赛选择的目标变体。
Two variants in the equine myostatin gene (MSTN), including a T/C SNP substitution in the first intron and a 227-bp SINE insertion in the promoter, are associated with muscle fiber type proportions in the Quarter Horse (QH) and with the prediction of race distance propensity in the Thoroughbred (TB). Genotypes from these loci, along with 18 additional variants surrounding MSTN, were examined in 301 horses of 14 breeds to evaluate haplotype relationships and diversity. The C allele of intron 1 was found in 12 of 14 breeds at a frequency of 0.27; the SINE was observed in five breeds, but common in only the TB and QH (0.73 and 0.48 respectively). Haplotype data suggest the SINE insertion is contemporary to and arose upon a haplotype containing the intron 1 C allele. Gluteal muscle biopsies of TBs showed a significant association of the intron 1 C allele and SINE with a higher proportion of Type 2B and lower proportion of Type 1 fibers. However, in the Belgian horse, in which the SINE is not present, the intron 1 SNP was not associated with fiber type proportions, and evaluation of fiber type proportions across the Belgian, TB and QH breeds shows the significant effect of breed on fiber type proportions is negated when evaluating horses without the SINE variant. These data suggest the SINE, rather than the intron 1 SNP, is driving the observed muscle fiber type characteristics and is the variant targeted by selection for short-distance racing.
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影响因子：
1.8
作者：
Guimaraes, Simone E. F.;Stahl, Chad H.;Rothschild, Max F.
通讯作者：
Rothschild, Max F.
影响因子：
3.3
作者：
STULL, CL;ALBERT, WW
通讯作者：
ALBERT, WW
影响因子：
2.8
作者：
Curry, Jennifer Wendy;Hohl, Rodrigo;Kohn, Tertius Abraham
通讯作者：
Kohn, Tertius Abraham
影响因子：
2.4
作者：
Linnane, L;Serrano, AL;Rivero, JLL
通讯作者：
Rivero, JLL
DOI：
10.1073/pnas.152330099
发表时间：
2002-08-06
影响因子：
11.1
作者：
Jansen, T;Forster, P;Olek, K
通讯作者：
Olek, K