Multiplex profiling of developmental cis-regulatory elements with quantitative single-cell expression reporters

Nat Methods. 2024 Jun;21(6):983-993. doi: 10.1038/s41592-024-02260-3. Epub 2024 May 9.

Abstract

The inability to scalably and precisely measure the activity of developmental cis-regulatory elements (CREs) in multicellular systems is a bottleneck in genomics. Here we develop a dual RNA cassette that decouples the detection and quantification tasks inherent to multiplex single-cell reporter assays. The resulting measurement of reporter expression is accurate over multiple orders of magnitude, with a precision approaching the limit set by Poisson counting noise. Together with RNA barcode stabilization via circularization, these scalable single-cell quantitative expression reporters provide high-contrast readouts, analogous to classic in situ assays but entirely from sequencing. Screening >200 regions of accessible chromatin in a multicellular in vitro model of early mammalian development, we identify 13 (8 previously uncharacterized) autonomous and cell-type-specific developmental CREs. We further demonstrate that chimeric CRE pairs generate cognate two-cell-type activity profiles and assess gain- and loss-of-function multicellular expression phenotypes from CRE variants with perturbed transcription factor binding sites. Single-cell quantitative expression reporters can be applied in developmental and multicellular systems to quantitatively characterize native, perturbed and synthetic CREs at scale, with high sensitivity and at single-cell resolution.

MeSH terms

  • Animals
  • Chromatin / genetics
  • Chromatin / metabolism
  • Gene Expression Profiling / methods
  • Gene Expression Regulation, Developmental*
  • Genes, Reporter
  • Humans
  • Mice
  • Regulatory Elements, Transcriptional
  • Regulatory Sequences, Nucleic Acid
  • Single-Cell Analysis* / methods
  • Transcription Factors / genetics
  • Transcription Factors / metabolism

Substances

  • Transcription Factors
  • Chromatin