Enhancers predominantly regulate gene expression during differentiation via transcription initiation

Mol Cell. 2021 Mar 4;81(5):983-997.e7. doi: 10.1016/j.molcel.2021.01.002. Epub 2021 Feb 3.

Abstract

Gene transcription occurs via a cycle of linked events, including initiation, promoter-proximal pausing, and elongation of RNA polymerase II (Pol II). A key question is how transcriptional enhancers influence these events to control gene expression. Here, we present an approach that evaluates the level and change in promoter-proximal transcription (initiation and pausing) in the context of differential gene expression, genome-wide. This combinatorial approach shows that in primary cells, control of gene expression during differentiation is achieved predominantly via changes in transcription initiation rather than via release of Pol II pausing. Using genetically engineered mouse models, deleted for functionally validated enhancers of the α- and β-globin loci, we confirm that these elements regulate Pol II recruitment and/or initiation to modulate gene expression. Together, our data show that gene expression during differentiation is regulated predominantly at the level of initiation and that enhancers are key effectors of this process.

Keywords: Poll II recruitment; enhancers; gene regulation; promoter proximal pausing; transcription.

Publication types

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

MeSH terms

  • Animals
  • Cell Differentiation
  • Enhancer Elements, Genetic*
  • Exons
  • Fetus
  • Gene Expression Regulation
  • Gene Library
  • HSP70 Heat-Shock Proteins / genetics
  • HSP70 Heat-Shock Proteins / metabolism
  • Humans
  • Introns
  • K562 Cells
  • Liver / cytology
  • Liver / metabolism
  • Mice
  • Mice, Knockout
  • Promoter Regions, Genetic*
  • Proto-Oncogene Proteins c-myc / genetics
  • Proto-Oncogene Proteins c-myc / metabolism
  • RNA Polymerase II / genetics*
  • RNA Polymerase II / metabolism
  • Signal Transduction
  • Transcription Initiation, Genetic*
  • alpha-Globins / deficiency
  • alpha-Globins / genetics*
  • beta-Globins / deficiency
  • beta-Globins / genetics*

Substances

  • HSP70 Heat-Shock Proteins
  • HSPA1A protein, human
  • MYC protein, human
  • Proto-Oncogene Proteins c-myc
  • alpha-Globins
  • beta-Globins
  • RNA Polymerase II