Department of Animal Sciences, The Ohio State University, Columbus, OH 43210, USA.
The Ohio State University Interdisciplinary Human Nutrition Program, The Ohio State University, Columbus, OH 43210, USA.
Int J Mol Sci. 2020 Feb 22;21(4):1504. doi: 10.3390/ijms21041504.
Mutation in myostatin (), a negative regulator of muscle growth in skeletal muscle, resulted in increased muscle mass in mammals and fishes. However, mutation in avian species has not been reported. The objective of this study was to generate mutation in quail and investigate the effect of mutation in avian muscle growth. Recently, a new targeted gene knockout approach for the avian species has been developed using an adenoviral CRISPR/Cas9 system. By injecting the recombinant adenovirus containing CRISPR/Cas9 into the quail blastoderm, potential germline chimeras were generated and offspring with three base-pair deletion in the targeted region of the gene was identified. This non-frameshift mutation in resulted in deletion of cysteine 42 in the MSTN propeptide region and homozygous mutant quail showed significantly increased body weight and muscle mass with muscle hyperplasia compared to heterozygous mutant and wild-type quail. In addition, decreased fat pad weight and increased heart weight were observed in mutant quail in an age- and sex-dependent manner, respectively. Taken together, these data indicate anti-myogenic function of in the avian species and the importance of cysteine 42 in regulating function.
肌生成抑制素（）基因突变是一种负调控骨骼肌生长的机制，导致哺乳动物和鱼类的肌肉质量增加。然而，禽类物种中的 基因突变尚未见报道。本研究的目的是在鹌鹑中产生 基因突变，并研究 基因突变对禽类肌肉生长的影响。最近，一种新的针对禽类物种的靶向基因敲除方法已经使用腺病毒 CRISPR/Cas9 系统开发出来。通过将含有 CRISPR/Cas9 的重组腺病毒注射到鹌鹑的胚盘，产生了潜在的种系嵌合体，并鉴定出在 基因的靶向区域有三个碱基对缺失的后代。 基因突变导致 MSTN 前肽区的半胱氨酸 42 缺失，纯合突变鹌鹑的体重和肌肉质量显著增加，与杂合突变和野生型鹌鹑相比，肌肉增生。此外，在年龄和性别依赖性方式中，观察到 突变鹌鹑的脂肪垫重量降低和心脏重量增加。总之，这些数据表明 在禽类物种中具有抗肌生成功能，并且半胱氨酸 42 对调节 功能很重要。
