Stefaniuk Monika, Kaczor Urszula, Augustyn Romana, Gurgul Artur, Kulisa Maria, Podstawski Zenon
Folia Biol (Krakow). 2014;62(3):219-22. doi: 10.3409/fb62_3.219.
Myostatin (GDF-8) encoded by the MSTN gene is a negative regulator of muscle growth and development and belongs to the TGF-β superfamily of secreted growth and differentiation factors. In Thoroughbred horses, an MSTN sequence polymorphism (g.66493737C>T) is associated with optimum race distance. In the present study, a genetic polymorphism of a predicted promoter of the MSTN gene was investigated in 451 horses belonging to five different breeds: Arabian, Thoroughbred, Polish Konik, Hucul and Polish Heavy Draft. Two SNPs located at g.66495826T>C and g.66495696T>C (chr;18 EquCab 2.0) showed three haplotypes previously described: [g.66495826:T, g.66495696:T], [g.66495826:T, g.66495696:C], [g.66495826:C, g.66495696:T] with frequencies 0.877; 0.101; 0.005; respectively. Analysis performed on Polish Heavy Draft indicated the occurrence of a new haplotype [g.6649582626:C, g.66495696:C] with frequency 0.016.
由MSTN基因编码的肌肉生长抑制素（GDF - 8）是肌肉生长和发育的负调节因子，属于分泌型生长和分化因子的TGF -β超家族。在纯种马中，MSTN序列多态性（g.66493737C>T）与最佳比赛距离相关。在本研究中，对属于五个不同品种的451匹马进行了MSTN基因预测启动子的遗传多态性研究，这五个品种分别为阿拉伯马、纯种马、波兰柯尼克马、胡库尔马和波兰重挽马。位于g.66495826T>C和g.66495696T>C（chr;18 EquCab 2.0）的两个单核苷酸多态性显示出先前描述的三种单倍型：[g.66495826:T, g.66495696:T]、[g.66495826:T, g.66495696:C]、[g.66495826:C, g.66495696:T]，频率分别为0.877、0.101、0.005。对波兰重挽马进行的分析表明出现了一种新的单倍型[g.6649582626:C, g.66495696:C]，频率为0.016。
