論文

国際誌
2020年12月18日

AUTS2 Governs Cerebellar Development, Purkinje Cell Maturation, Motor Function and Social Communication.

iScience
  • Kunihiko Yamashiro
  • Kei Hori
  • Esther S K Lai
  • Ryo Aoki
  • Kazumi Shimaoka
  • Nariko Arimura
  • Saki F Egusa
  • Asami Sakamoto
  • Manabu Abe
  • Kenji Sakimura
  • Takaki Watanabe
  • Naofumi Uesaka
  • Masanobu Kano
  • Mikio Hoshino
  • 全て表示

23
12
開始ページ
101820
終了ページ
101820
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1016/j.isci.2020.101820

Autism susceptibility candidate 2 (AUTS2), a risk gene for autism spectrum disorders (ASDs), is implicated in telencephalon development. Because AUTS2 is also expressed in the cerebellum where defects have been linked to ASDs, we investigated AUTS2 functions in the cerebellum. AUTS2 is specifically localized in Purkinje cells (PCs) and Golgi cells during postnatal development. Auts2 conditional knockout (cKO) mice exhibited smaller and deformed cerebella containing immature-shaped PCs with reduced expression of Cacna1a. Auts2 cKO and knock-down experiments implicated AUTS2 participation in elimination and translocation of climbing fiber synapses and restriction of parallel fiber synapse numbers. Auts2 cKO mice exhibited behavioral impairments in motor learning and vocal communications. Because Cacna1a is known to regulate synapse development in PCs, it suggests that AUTS2 is required for PC maturation to elicit normal development of PC synapses and thus the impairment of AUTS2 may cause cerebellar dysfunction related to psychiatric illnesses such as ASDs.

リンク情報
DOI
https://doi.org/10.1016/j.isci.2020.101820
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/33305180
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7708818
ID情報
  • DOI : 10.1016/j.isci.2020.101820
  • PubMed ID : 33305180
  • PubMed Central 記事ID : PMC7708818

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