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April 19, 2026RNA1 citations

Cancer-associated synonymous mutations reveal stress signal-dependent mRNA folding that selectively modulates protein function.

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SGSivakumar Vadivel GnanasundramLWLixiao WangSCSa Chen

Key Points

  • This research investigates how cancer-associated synonymous mutations affect mRNA structures and protein function in response to DNA damage.
  • Used in-cell RNA structural probing (SHAPE-MaP) to study mRNA folding changes in response to signaling pathways.
  • Analyzed cancer-associated synonymous mutations at proline codon 34.
  • Conducted transcript and chromatin immunoprecipitation (ChIP) analysis to assess p53 binding and target gene induction.
  • Performed transcriptome analysis to evaluate global gene expression changes after DNA damage.
  • CASM34 mutations prevent proper folding of TP53 mRNA during DNA damage.
  • Reduced p53 binding to promoters and diminished expression of p53 target genes PUMA and 14-3-3-σ were observed.
  • CASM34 caused a global reduction in DNA damage-responsive gene expression.

Abstract

Recent technical advances have facilitated studies on changes in mRNA structures in response to signaling pathways. However, if mRNA structures can affect the function of the encoded protein remains poorly understood. In-cell RNA structural probing (SHAPE-MaP) demonstrates how two cancer-associated synonymous mutations (CASMs) at proline codon 34 (c.102 C>A and c.102 C>G) prevent DNA damage-induced TP53 mRNA folding, whereas the non-cancer-associated c.102 C>U mutation does not. Transcript and chromatin immunoprecipitation (ChIP) analysis reveal that p53 expressed from CASM34 has reduced promoter binding and reduced induction of p53 downstream target genes PUMA and 14-3-3-σ, but not p21CDKN1A. Transcriptome analysis reveals a CASM34-mediated global attenuation of DNA damage–responsive gene expression. Together, the results demonstrate that CASM34 interferes with signal-induced p53 mRNA folding during DNA damage, leading to selective modulation of p53 protein activity. More broadly, our findings highlight a general concept by which cancer-associated synonymous mutations target signal-induced mRNA structures that influence the encoded protein.

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Cite This Study

Gnanasundram et al. (2026) studied this question.

synapsesocial.com/papers/69e4739a010ef96374d8f535https://doi.org/10.1261/rna.080976.126
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