A missense mutation in ISPD contributes to maintain muscle fiber stability

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

Source：Poultry Science, 2022, 101(11): 102143.

DOI：10.1016/j.psj.2022.102143

• ISPD
• missense mutation
• myogenesis
• atrophy antagonism
• myofiber stability

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.

• Institution
  广东省农业科学院; 江西农业大学; 华南农业大学