Table_1_An intronic SNP affects skeletal muscle development by regulating the expression of TP63.docx

BackgroundPorcine skeletal muscle development is pivotal for improving meat production. TP63, a transcription factor, regulates vital cellular processes, yet its role in skeletal muscle proliferation is unclear.MethodsThe effects of TP63 on skeletal muscle cell viability and proliferation were investigated using both mouse and porcine skeletal muscle myoblasts. Selective sweep analysis in Western pigs identified TP63 as a potential candidate gene for skeletal muscle development. The correlation between TP63 overexpression and cell proliferation was assessed using quantitative real-time PCR (RT-qPCR) and 5-ethynyl-2’-deoxyuridine (EDU).ResultsThe study revealed a positive correlation between TP63 overexpression and skeletal muscle cell proliferation. Bioinformatics analysis predicted an interaction between MEF2A, another transcription factor, and the mutation site of TP63. Experimental validation through dual-luciferase assays confirmed that a candidate enhancer SNP could influence MEF2A binding, subsequently regulating TP63 expression and promoting skeletal muscle cell proliferation.ConclusionThese findings offer experimental evidence for further exploration of skeletal muscle development mechanisms and the advancement of genetic breeding strategies aimed at improving meat production traits.

背景：猪骨骼肌的发育对于提升肉类产量至关重要。TP63作为一种转录因子，调控着关键的细胞过程，但其对骨骼肌增殖的作用尚不明确。方法：本研究采用小鼠和猪骨骼肌肌原细胞，探究了TP63对骨骼肌细胞存活和增殖的影响。通过西方猪的筛选分析，确定了TP63为骨骼肌发育的潜在候选基因。采用定量实时PCR（RT-qPCR）和5-乙炔-2'-脱氧尿苷（EDU）评估了TP63过表达与细胞增殖之间的相关性。结果：研究发现TP63过表达与骨骼肌细胞增殖呈正相关。生物信息学分析预测了另一个转录因子MEF2A与TP63突变位点的相互作用。通过双荧光素酶实验的实验验证，证实了一个候选增强子单核苷酸多态性（SNP）能够影响MEF2A的结合，从而调节TP63的表达并促进骨骼肌细胞的增殖。结论：这些发现为深入探究骨骼肌发育机制和推进旨在提升肉类生产性状的遗传育种策略提供了实验依据。