AUTHOR=Chen Yufen , Wang Zhen , Qu Xiaolu , Song Bangmin , Tang Yueting , Li Bugao , Cao Guoqing , Yi Guoqiang 

TITLE=An intronic SNP affects skeletal muscle development by regulating the expression of TP63

JOURNAL=Frontiers in Veterinary Science

VOLUME=11

YEAR=2024

URL=https://www.frontiersin.org/journals/veterinary-science/articles/10.3389/fvets.2024.1396766

DOI=10.3389/fvets.2024.1396766

ISSN=2297-1769

ABSTRACT=<sec id="sec1001"><title>Background</title><p>Porcine skeletal muscle development is pivotal for improving meat production. <italic>TP63</italic>, a transcription factor, regulates vital cellular processes, yet its role in skeletal muscle proliferation is unclear.</p></sec><sec id="sec2001"><title>Methods</title><p>The effects of <italic>TP63</italic> on skeletal muscle cell viability and proliferation were investigated using both mouse and porcine skeletal muscle myoblasts. Selective sweep analysis in Western pigs identified <italic>TP63</italic> 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).</p></sec><sec id="sec3001"><title>Results</title><p>The study revealed a positive correlation between <italic>TP63</italic> overexpression and skeletal muscle cell proliferation. Bioinformatics analysis predicted an interaction between MEF2A, another transcription factor, and the mutation site of <italic>TP63</italic>. Experimental validation through dual-luciferase assays confirmed that a candidate enhancer SNP could influence MEF2A binding, subsequently regulating <italic>TP63</italic> expression and promoting skeletal muscle cell proliferation.</p></sec><sec id="sec4001"><title>Conclusion</title><p>These 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.</p></sec>