Nature Communications (Nov 2021)

Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders

  • Luca Pagliaroli,
  • Patrizia Porazzi,
  • Alyxandra T. Curtis,
  • Chiara Scopa,
  • Harald M. M. Mikkers,
  • Christian Freund,
  • Lucia Daxinger,
  • Sandra Deliard,
  • Sarah A. Welsh,
  • Sarah Offley,
  • Connor A. Ott,
  • Bruno Calabretta,
  • Samantha A. Brugmann,
  • Gijs W. E. Santen,
  • Marco Trizzino

DOI
https://doi.org/10.1038/s41467-021-26810-x
Journal volume & issue
Vol. 12, no. 1
pp. 1 – 16

Abstract

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Mutations in the ARID1B subunit of the BAF chromatin remodeling complex are associated with the neurodevelopmental Coffin-Siris syndrome. Here the authors reveal that there is a transition from ARID1A-containing complexes to ARID1B during cranial neural crest cell differentiation that is impaired in Coffin-Siris patient-derived cells, which is important for exit from pluripotency.