Towards a comprehensive catalogue of validated and target-linked human enhancers

Nat Rev Genet. 2020 May;21(5):292-310. doi: 10.1038/s41576-019-0209-0. Epub 2020 Jan 27.

Abstract

The human gene catalogue is essentially complete, but we lack an equivalently vetted inventory of bona fide human enhancers. Hundreds of thousands of candidate enhancers have been nominated via biochemical annotations; however, only a handful of these have been validated and confidently linked to their target genes. Here we review emerging technologies for discovering, characterizing and validating human enhancers at scale. We furthermore propose a new framework for operationally defining enhancers that accommodates the heterogeneous and complementary results that are emerging from reporter assays, biochemical measurements and CRISPR screens.

Publication types

  • Review

MeSH terms

  • Clustered Regularly Interspaced Short Palindromic Repeats
  • Enhancer Elements, Genetic*
  • Genome, Human
  • Humans