Interferon-γ signaling in human iPSC-derived neurons recapitulates neurodevelopmental disorder phenotypes

Sci Adv. 2020 Aug 19;6(34):eaay9506. doi: 10.1126/sciadv.aay9506. eCollection 2020 Aug.

Abstract

Maternal immune activation increases the risk of neurodevelopmental disorders. Elevated cytokines, such as interferon-γ (IFN-γ), in offspring's brains play a central role. IFN-γ activates an antiviral cellular state, limiting viral entry and replication. Moreover, IFN-γ is implicated in brain development. We tested the hypothesis that IFN-γ signaling contributes to molecular and cellular phenotypes associated with neurodevelopmental disorders. Transient IFN-γ treatment of neural progenitors derived from human induced pluripotent stem cells increased neurite outgrowth. RNA sequencing analysis revealed that major histocompatibility complex class I (MHCI) genes were persistently up-regulated through neuronal differentiation-an effect that was mediated by IFN-γ-induced promyelocytic leukemia protein (PML) nuclear bodies. Critically, IFN-γ-induced neurite outgrowth required both PML and MHCI. We also found evidence that IFN-γ disproportionately altered the expression of genes associated with schizophrenia and autism, suggesting convergence between genetic and environmental risk factors. Together, these data implicate IFN-γ signaling in neurodevelopmental disorder etiology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Interferon-gamma / metabolism
  • Interferon-gamma / pharmacology
  • Neurodevelopmental Disorders* / genetics
  • Neurodevelopmental Disorders* / metabolism
  • Neurons / metabolism
  • Phenotype

Substances

  • IFNG protein, human
  • Interferon-gamma