在波兰五个最常见马种中，鉴定肌肉生长抑制素（MSTN）基因启动子区域内的一种新单倍型。

Identification of a new haplotype within the promoter region of the MSTN gene in horses from five of the most common breeds in Poland.

作者信息

Stefaniuk Monika, Kaczor Urszula, Augustyn Romana, Gurgul Artur, Kulisa Maria, Podstawski Zenon

出版信息

Folia Biol (Krakow). 2014;62(3):219-22. doi: 10.3409/fb62_3.219.

Abstract

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.

摘要

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。