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Autism risk genes converge on PBX1 to govern neural cell growth

Shuai Fu1,2, Anthony Wynshaw-Boris1

  • 1Department of Genetics and Genome Sciences, Case Western Reserve University; Cleveland, OH, USA.

Biorxiv : the Preprint Server for Biology
|March 31, 2025
PubMed

Insights

PBX1 is a key target for autism spectrum disorders (ASD). Targeting PBX1 can rescue neural progenitor cell proliferation issues seen in ASD, offering a potential therapeutic avenue.

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Genetics

Background:

  • Neural progenitor cell (NPC) proliferation is altered in autism spectrum disorders (ASD).
  • Identifying convergent downstream targets for ASD-related genetic mutations is crucial for therapeutic development.

Purpose of the Study:

  • To investigate if targeting convergent downstream targets can rescue NPC proliferation alterations in ASD.
  • To identify a specific gene as a convergent target for multiple ASD risk genes.

Main Methods:

  • Utilized isogenic induced pluripotent stem cell (iPSC)-derived 2D NPCs.
  • Identified PBX1 as a convergent target for CTNNB1, PTEN, and DVL3 autism risk genes.
  • Overexpressed the PBX1a isoform in ASD-related NPC variants.

Main Results:

  • Overexpression of PBX1a rescued increased NPC proliferation in all three isogenic ASD variants.
  • PBX1 dysregulation in NPCs was confirmed in public ASD model datasets.
  • PBX1 was identified as a convergent downstream target for CTNNB1, PTEN, and DVL3.

Conclusions:

  • PBX1 is a key downstream target influencing NPC proliferation in ASD.
  • Targeting PBX1 offers a potential strategy for treating neurodevelopmental syndromes like ASD.
  • PBX1's role in neurogenesis and cancer highlights its significance in cellular regulation.

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