Defining the regulatory logic of breast cancer using single-cell epigenetic and transcriptome profiling.

ABSTRACT: Annotation of cis-regulatory elements that drive transcriptional dysregulation in cancer cells is critical to understanding tumor biology. Herein, we present matched chromatin accessibility (single-cell assay for transposase-accessible chromatin by sequencing [scATAC-seq]) and transcriptome (single-cell RNA sequencing [scRNA-seq]) profiles at single-cell resolution from human breast tumors and healthy mammary tissues processed immediately following surgical resection. We identify the most likely cell of origin for subtype-specific breast tumors and implement linear mixed-effects modeling to quantify associations between regulatory elements and gene expression in malignant versus normal cells. These data unveil cancer-specific regulatory elements and putative silencer-to-enhancer switching

SUBMITTER: Regner MJ 

PROVIDER: S-EPMC11872555 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature