A missense mutation in ISPD contributes to maintain muscle fiber stability

文献类型： 外文期刊

第一作者： Guo, Lijin

作者： Guo, Lijin;Zhang, Siyu;Xu, Yibin;Huang, Yulin;Wen, Qi;Liu, Guanxuan;Huang, Weiling;Xu, Haiping;Nie, Qinghua;Guo, Lijin;Zhang, Siyu;Xu, Yibin;Huang, Yulin;Wen, Qi;Liu, Guanxuan;Huang, Weiling;Xu, Haiping;Nie, Qinghua;Chen, Biao;Luo, Wei

作者机构：

关键词： ISPD; missense mutation; myogenesis; atrophy antagonism; myofiber stability

期刊名称：POULTRY SCIENCE （ 影响因子：4.014； 五年影响因子：4.192 ）

ISSN： 0032-5791

年卷期： 2022 年 101 卷 11 期

页码：

收录情况： SCI

摘要： Background: Livestock and poultry skel-etal muscle development was regulated by a variety of genetic factors playing an essential role in this process. In our de novo sequencing, a missense mutation in ISPD exon 2 showed a selected signature for well-developed muscles. However, the relationship between this muta-tion and muscle phenotypes remains unclear.Results: Based on the genotype bias of this missense mutation in gamecock chickens, we compared the cross-section of muscle fibers among the individuals with dif-ferent genotypes with the results showing a genotype preference of this missense mutation in the chickens with hypertrophic muscle fibers. Comparing TT-and CC-genotype ISPD showed that TT-genotype was asso-ciated with heavier skeletal muscle and a better effect on myogenesis and myofiber stability. At cellular level, ISPD was identified to inhibit myoblast proliferation, differentiation and antagonize of muscular atrophy.Conclusion: It can be concluded that the missense muta-tion of Arg84Lys in ISPD was associated with well -developed muscles and demonstrated to improve chicken muscles' development.

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