An international team of researchers has made significant progress in understanding how gene expression is regulated across the human genome. In a recent study, they conducted a comprehensive analysis of cis-regulatory elements (CREs)—DNA sequences that control gene transcription. This research provides valuable insights into how CREs drive cell-specific gene expression and how mutations in these regions can impact health and contribute to disease.

CREs, such as enhancers and promoters, play a critical role in determining when and where genes are activated or silenced. Although their importance is well known, analyzing their activity on a large scale has been a longstanding challenge.

“The human genome contains a myriad of CREs, and mutations in these regions are thought to play a major role in human diseases and evolution,” explained Dr. Fumitaka Inoue, one of the co-first authors of the study. “However, it has been very difficult to comprehensively quantify their activity across the genome.”