摘要： 肌肉生长抑制素又称GDF-8,属TGF-β超家族,是骨骼肌生长的负调控因子。最早在小鼠中发现该基因的突变可导致骨骼肌肥大。随后的研究表明，肉牛的双肌现象也是该因子外显子3 11bp的碱基缺失或保守的单个碱基的突变所造成的。对人肌肉生长抑制素基因的研究表明，它包括3个外显子和2个内含子，在人的骨骼肌中特异性地表达，产物为成熟糖蛋白。目前，该基因已分别在人、牛和猪的染色体上定位。猪的肌肉生长抑制素基因的表达在仔猪出生时显著下降，而且其表达在生后仔猪的乳腺中也可检测到。
Abstract： Myostatin, a member of the transforming growth factor-βsuperfamily,is a genetic determinant of skeletal muscle growth.Mice and cattle with loss of function mutation of this gene have marked muscle hypertrophy.Myostatin is mapped to 2q33.2 in human,2q11or 2q14～15 in cattle and 15q2.3 in pig.The genomic structure of human myostatin gene contains 3 exons and 2 introns,with the whole length of about 7.7kb.Myostatin is expressed uniquely in the human skeletal muscle as a 26 kDa mature glycoprotein and secreted into the plasma. In Texel “double-muscle” sheep,no missense mutations were detected,but by linkage analysis a QTL flanking myostatin was associated with this trait.In porcine tissues,1.5 and 0.8kb transcripts were detected by Northern blot，myostatin peaks prenatally and it's higher expression is associated with low birth weight.