Activity-by-contact model of enhancer-promoter regulation from thousands of CRISPR perturbations

Nat Genet. 2019 Dec;51(12):1664-1669. doi: 10.1038/s41588-019-0538-0. Epub 2019 Nov 29.

Abstract

Enhancer elements in the human genome control how genes are expressed in specific cell types and harbor thousands of genetic variants that influence risk for common diseases1-4. Yet, we still do not know how enhancers regulate specific genes, and we lack general rules to predict enhancer-gene connections across cell types5,6. We developed an experimental approach, CRISPRi-FlowFISH, to perturb enhancers in the genome, and we applied it to test >3,500 potential enhancer-gene connections for 30 genes. We found that a simple activity-by-contact model substantially outperformed previous methods at predicting the complex connections in our CRISPR dataset. This activity-by-contact model allows us to construct genome-wide maps of enhancer-gene connections in a given cell type, on the basis of chromatin state measurements. Together, CRISPRi-FlowFISH and the activity-by-contact model provide a systematic approach to map and predict which enhancers regulate which genes, and will help to interpret the functions of the thousands of disease risk variants in the noncoding genome.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animals
  • Clustered Regularly Interspaced Short Palindromic Repeats*
  • Enhancer Elements, Genetic*
  • GATA1 Transcription Factor / genetics
  • Gene Expression Regulation
  • Histone Deacetylase 6 / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • K562 Cells
  • Mice
  • Models, Genetic
  • Promoter Regions, Genetic*
  • RNA, Guide, CRISPR-Cas Systems

Substances

  • GATA1 Transcription Factor
  • GATA1 protein, human
  • RNA, Guide, CRISPR-Cas Systems
  • HDAC6 protein, human
  • Histone Deacetylase 6