Dawes Michelle, Moore-Harrison Trudy, Hamilton Alicia T, Ceaser Tyrone, Kochan Kelli J, Riggs Penny K, Lightfoot J Timothy
Department of Health and Kinesiology, Texas A&M University, College Station, TX 77843, USA ; Sydney and JL Huffines Institute for Sports Medicine and Human Performance, Texas A&M University, College Station, TX 77843, USA.
Department of Kinesiology, University of North Carolina Charlotte, Charlotte, NC 28223, USA.
Biomed Res Int. 2014;2014:361048. doi: 10.1155/2014/361048. Epub 2014 Jan 16.
Numerous candidate genes have been suggested in the recent literature with proposed roles in regulation of voluntary physical activity, with little evidence of these genes' functional roles. This study compared the haplotype structure and expression profile in skeletal muscle and brain of inherently high- (C57L/J) and low- (C3H/HeJ) active mice. Expression of nine candidate genes [Actn2, Actn3, Casq1, Drd2, Lepr, Mc4r, Mstn, Papss2, and Glut4 (a.k.a. Slc2a4)] was evaluated via RT-qPCR. SNPs were observed in regions of Actn2, Casq1, Drd2, Lepr, and Papss2; however, no SNPs were located in coding sequences or associated with any known regulatory sequences. In mice exposed to a running wheel, Casq1 (P = 0.0003) and Mstn (P = 0.002) transcript levels in the soleus were higher in the low-active mice. However, when these genes were evaluated in naïve animals, differential expression was not observed, demonstrating a training effect. Among naïve mice, no genes in either tissue exhibited differential expression between strains. Considering that no obvious SNP mechanisms were determined or differential expression was observed, our results indicate that genomic structural variation or gene expression data alone is not adequate to establish any of these genes' candidacy or causality in relation to regulation of physical activity.
近期文献中提出了许多候选基因,它们在调节自愿性身体活动中可能发挥作用,但几乎没有证据表明这些基因的功能作用。本研究比较了天生高活动量(C57L/J)和低活动量(C3H/HeJ)小鼠骨骼肌和大脑中的单倍型结构及表达谱。通过RT-qPCR评估了九个候选基因[肌动蛋白2(Actn2)、肌动蛋白3(Actn3)、肌钙蛋白1(Casq1)、多巴胺D2受体(Drd2)、瘦素受体(Lepr)、黑皮质素4受体(Mc4r)、肌肉生长抑制素(Mstn)、3'-磷酸腺苷-5'-磷酸硫酸合成酶2(Papss2)和葡萄糖转运蛋白4(Glut4,又称溶质载体家族2成员4,Slc2a4)]的表达。在Actn2、Casq1、Drd2、Lepr和Papss2区域观察到单核苷酸多态性(SNP);然而,编码序列中未发现SNP,也未发现与任何已知调控序列相关的SNP。在接触跑步轮的小鼠中,低活动量小鼠比目鱼肌中的Casq1(P = 0.0003)和Mstn(P = 0.002)转录水平更高。然而,在未接触跑步轮的动物中评估这些基因时,未观察到差异表达,表明存在训练效应。在未接触跑步轮的小鼠中,两个组织中的任何基因在品系间均未表现出差异表达。鉴于未确定明显具有机制的SNP,也未观察到差异表达,我们的结果表明,仅基因组结构变异或基因表达数据不足以确定这些基因中任何一个与身体活动调节相关的候选资格或因果关系。