The regulatory landscape of nascent transcription in human health and disease.

ABSTRACT: Transcriptional regulatory elements (TREs) orchestrate gene expression programs fundamental to cellular identity and transitions between physiological and pathological states. Decoding the regulatory logic of human biology requires resolving where, when, and how these elements are transcriptionally engaged. Here, we profiled the active transcriptional regulatory landscape across all major organ systems and a broad spectrum of developmental and disease states using PRO-cap, a high-resolution method that captures nascent transcription start sites with unprecedented sensitivity and specificity. This atlas of active TREs highlights elements shaped by their cellular contexts and evolutionary constraints, sheds light on the genetic architecture of human traits and diseases, and reveals how patte

SUBMITTER: Shah SR 

PROVIDER: S-EPMC12485982 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature