Regulatory non-coding somatic mutations as drivers of neuroblastoma.

ABSTRACT:

Background

Emerging evidence suggests that non-coding somatic single nucleotide variants (SNVs) in cis-regulatory elements (CREs) contribute to cancer by disrupting gene expression networks. However, the role of non-coding SNVs in cancer, particularly neuroblastoma, remains largely unclear.

Methods

SNVs effect on CREs activity was evaluated by luciferase assays. Motif analysis and ChIP-qPCR experiments were employed to reveal the transcription factors (TFs) involved in these processes. We exploited CRISPR-Cas9 experiments to elucidate the role of these SNVs on the CREs target genes expression. Cell proliferation and invasion assays were performed to assess their role in neuroblastoma tumorigenesis.

Results

Our findings demonstrate that non-coding SNVs modify the trans

SUBMITTER: Montella A 

PROVIDER: S-EPMC11876587 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature