Coordinated changes in gene expression kinetics underlie both mouse and human erythroid maturation

Genome Biol. 2021 Jul 5;22(1):197. doi: 10.1186/s13059-021-02414-y.

Abstract

Background: Single-cell technologies are transforming biomedical research, including the recent demonstration that unspliced pre-mRNA present in single-cell RNA-Seq permits prediction of future expression states. Here we apply this RNA velocity concept to an extended timecourse dataset covering mouse gastrulation and early organogenesis.

Results: Intriguingly, RNA velocity correctly identifies epiblast cells as the starting point, but several trajectory predictions at later stages are inconsistent with both real-time ordering and existing knowledge. The most striking discrepancy concerns red blood cell maturation, with velocity-inferred trajectories opposing the true differentiation path. Investigating the underlying causes reveals a group of genes with a coordinated step-change in transcription, thus violating the assumptions behind current velocity analysis suites, which do not accommodate time-dependent changes in expression dynamics. Using scRNA-Seq analysis of chimeric mouse embryos lacking the major erythroid regulator Gata1, we show that genes with the step-changes in expression dynamics during erythroid differentiation fail to be upregulated in the mutant cells, thus underscoring the coordination of modulating transcription rate along a differentiation trajectory. In addition to the expected block in erythroid maturation, the Gata1-chimera dataset reveals induction of PU.1 and expansion of megakaryocyte progenitors. Finally, we show that erythropoiesis in human fetal liver is similarly characterized by a coordinated step-change in gene expression.

Conclusions: By identifying a limitation of the current velocity framework coupled with in vivo analysis of mutant cells, we reveal a coordinated step-change in gene expression kinetics during erythropoiesis, with likely implications for many other differentiation processes.

Keywords: Erythropoiesis; Gastrulation; Gata1; RNA velocity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Differentiation
  • Datasets as Topic
  • Embryo, Mammalian
  • Erythroid Cells / cytology
  • Erythroid Cells / metabolism*
  • Erythropoiesis / genetics*
  • Fetus
  • GATA1 Transcription Factor / deficiency
  • GATA1 Transcription Factor / genetics*
  • Gastrula / growth & development
  • Gastrula / metabolism
  • Gene Expression Regulation, Developmental*
  • Humans
  • Kinetics
  • Liver / cytology
  • Liver / growth & development
  • Liver / metabolism
  • Mice
  • Organogenesis / genetics*
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins / metabolism
  • Single-Cell Analysis
  • Trans-Activators / genetics
  • Trans-Activators / metabolism
  • Transcriptional Activation

Substances

  • GATA1 Transcription Factor
  • Gata1 protein, mouse
  • Proto-Oncogene Proteins
  • Trans-Activators
  • proto-oncogene protein Spi-1