A single-cell massively parallel reporter assay detects cell-type-specific gene regulation

Nat Genet. 2023 Feb;55(2):346-354. doi: 10.1038/s41588-022-01278-7. Epub 2023 Jan 12.

Abstract

Massively parallel reporter gene assays are key tools in regulatory genomics but cannot be used to identify cell-type-specific regulatory elements without performing assays serially across different cell types. To address this problem, we developed a single-cell massively parallel reporter assay (scMPRA) to measure the activity of libraries of cis-regulatory sequences (CRSs) across multiple cell types simultaneously. We assayed a library of core promoters in a mixture of HEK293 and K562 cells and showed that scMPRA is a reproducible, highly parallel, single-cell reporter gene assay that detects cell-type-specific cis-regulatory activity. We then measured a library of promoter variants across multiple cell types in live mouse retinas and showed that subtle genetic variants can produce cell-type-specific effects on cis-regulatory activity. We anticipate that scMPRA will be widely applicable for studying the role of CRSs across diverse cell types.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Gene Library
  • Genes, Reporter* / genetics
  • HEK293 Cells*
  • Humans
  • Mice
  • Promoter Regions, Genetic
  • Retina / metabolism