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

**Authors:** Yufen Chen, Zhen Wang, Xiaolu Qu, Bangmin Song, Yueting Tang, Bugao Li, Guoqing Cao, Guoqiang Yi

PMC · DOI: 10.3389/fvets.2024.1396766 · Frontiers in Veterinary Science · 2024-06-12

## TL;DR

A genetic variant in the TP63 gene influences skeletal muscle cell growth in pigs, offering insights for improving meat production.

## Contribution

The study identifies a specific SNP that regulates TP63 expression and affects muscle cell proliferation in pigs.

## Key findings

- TP63 overexpression is positively correlated with skeletal muscle cell proliferation.
- A candidate enhancer SNP influences MEF2A binding and regulates TP63 expression.
- The SNP's effect on TP63 provides a mechanism for improving meat production traits.

## Abstract

Porcine 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.

The 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).

The 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.

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.

## Linked entities

- **Genes:** TP63 (tumor protein p63) [NCBI Gene 8626], MEF2A (myocyte enhancer factor 2A) [NCBI Gene 4205]
- **Chemicals:** 5-ethynyl-2’-deoxyuridine (PubChem CID 472172), EDU (PubChem CID 472172)
- **Species:** Mus musculus (taxon 10090)

## Full-text entities

- **Genes:** Mef2a (myocyte enhancer factor 2A) [NCBI Gene 17258] {aka A430079H05Rik}, TP63 (tumor protein p63) [NCBI Gene 100625258], Trp63 (transformation related protein 63) [NCBI Gene 22061] {aka Ket, P51/P63, P63, P73l, Tp63, Trp53rp1}
- **Species:** Sus scrofa (pig, species) [taxon 9823], Mus musculus (house mouse, species) [taxon 10090]

## Full text

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## Figures

5 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11199888/full.md

## References

45 references — full list in the complete paper: https://tomesphere.com/paper/PMC11199888/full.md

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Source: https://tomesphere.com/paper/PMC11199888