Systematic identification of silencers in human cells

Nat Genet. 2020 Mar;52(3):254-263. doi: 10.1038/s41588-020-0578-5. Epub 2020 Feb 24.

Abstract

The majority of the human genome does not encode proteins. Many of these noncoding regions contain important regulatory sequences that control gene expression. To date, most studies have focused on activators such as enhancers, but regions that repress gene expression-silencers-have not been systematically studied. We have developed a system that identifies silencer regions in a genome-wide fashion on the basis of silencer-mediated transcriptional repression of caspase 9. We found that silencers are widely distributed and may function in a tissue-specific fashion. These silencers harbor unique epigenetic signatures and are associated with specific transcription factors. Silencers also act at multiple genes, and at the level of chromosomal domains and long-range interactions. Deletion of silencer regions linked to the drug transporter genes ABCC2 and ABCG2 caused chemo-resistance. Overall, our study demonstrates that tissue-specific silencing is widespread throughout the human genome and probably contributes substantially to the regulation of gene expression and human biology.

Publication types

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

MeSH terms

  • Gene Deletion
  • Gene Silencing*
  • Genetic Variation*
  • Genome, Human / genetics*
  • Humans
  • Multidrug Resistance-Associated Protein 2
  • Organ Specificity
  • Repressor Proteins / genetics*
  • Silencer Elements, Transcriptional / genetics*
  • Transcription, Genetic

Substances

  • ABCC2 protein, human
  • Multidrug Resistance-Associated Protein 2
  • Repressor Proteins