Nature Communications (Nov 2020)

Pogz deficiency leads to transcription dysregulation and impaired cerebellar activity underlying autism-like behavior in mice

  • Reut Suliman-Lavie,
  • Ben Title,
  • Yahel Cohen,
  • Nanako Hamada,
  • Maayan Tal,
  • Nitzan Tal,
  • Galya Monderer-Rothkoff,
  • Bjorg Gudmundsdottir,
  • Kristbjorn O. Gudmundsson,
  • Jonathan R. Keller,
  • Guo-Jen Huang,
  • Koh-ichi Nagata,
  • Yosef Yarom,
  • Sagiv Shifman

DOI
https://doi.org/10.1038/s41467-020-19577-0
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 15

Abstract

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POGZ is an autism spectrum disorder risk gene. How POGZ mutations result in ASD is unclear and animal models are lacking. Here, the authors generate a brain specific Pogz deficient mouse presenting ASD-like behaviour and show the effects of Pogz deficiency in the cerebellum.