A human isogenic iPSC-derived cell line panel identifies major regulators of aberrant astrocyte proliferation in Down syndrome

Commun Biol. 2021 Jun 14;4(1):730. doi: 10.1038/s42003-021-02242-7.

Abstract

Astrocytes exert adverse effects on the brains of individuals with Down syndrome (DS). Although a neurogenic-to-gliogenic shift in the fate-specification step has been reported, the mechanisms and key regulators underlying the accelerated proliferation of astrocyte precursor cells (APCs) in DS remain elusive. Here, we established a human isogenic cell line panel based on DS-specific induced pluripotent stem cells, the XIST-mediated transcriptional silencing system in trisomic chromosome 21, and genome/chromosome-editing technologies to eliminate phenotypic fluctuations caused by genetic variation. The transcriptional responses of genes observed upon XIST induction and/or downregulation are not uniform, and only a small subset of genes show a characteristic expression pattern, which is consistent with the proliferative phenotypes of DS APCs. Comparative analysis and experimental verification using gene modification reveal dose-dependent proliferation-promoting activity of DYRK1A and PIGP on DS APCs. Our collection of human isogenic cell lines provides a comprehensive set of cellular models for further DS investigations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Astrocytes / physiology*
  • Blotting, Western
  • Cell Line
  • Cell Proliferation*
  • Down Syndrome / etiology*
  • Gene Dosage
  • Gene Editing
  • Gene Silencing
  • Humans
  • In Situ Hybridization, Fluorescence
  • Induced Pluripotent Stem Cells / physiology*
  • Infant, Newborn
  • Male