Nested epistasis enhancer networks for robust genome regulation

Science. 2022 Sep 2;377(6610):1077-1085. doi: 10.1126/science.abk3512. Epub 2022 Aug 11.

Abstract

Mammalian genomes have multiple enhancers spanning an ultralong distance (>megabases) to modulate important genes, but it is unclear how these enhancers coordinate to achieve this task. We combine multiplexed CRISPRi screening with machine learning to define quantitative enhancer-enhancer interactions. We find that the ultralong distance enhancer network has a nested multilayer architecture that confers functional robustness of gene expression. Experimental characterization reveals that enhancer epistasis is maintained by three-dimensional chromosomal interactions and BRD4 condensation. Machine learning prediction of synergistic enhancers provides an effective strategy to identify noncoding variant pairs associated with pathogenic genes in diseases beyond genome-wide association studies analysis. Our work unveils nested epistasis enhancer networks, which can better explain enhancer functions within cells and in diseases.

MeSH terms

  • Cell Cycle Proteins
  • Disease* / genetics
  • Enhancer Elements, Genetic*
  • Epistasis, Genetic*
  • Genome-Wide Association Study
  • Humans
  • K562 Cells
  • Machine Learning*
  • Nuclear Proteins / genetics
  • Transcription Factors / genetics

Substances

  • BRD4 protein, human
  • Cell Cycle Proteins
  • Nuclear Proteins
  • Transcription Factors