Behavioral and cerebellar transmission deficits in mice lacking the autism-linked gene islet brain-2

Joanna Giza, Michael J. Urbanski, Francesca Prestori, Bhaswati Bandyopadhyay, Annie Yam, Victor Friedrich, Kevin Kelley, Egidio D'Angelo, Mitchell Goldfarb

Research output: Contribution to journalArticlepeer-review

Abstract

Deletion of the human SHANK3 gene near the terminus of chromosome 22q is associated with Phelan-McDermid syndrome and autism spectrum disorders. Nearly all such deletions also span the tightly linked IB2 gene. We show here that IB2 protein is broadly expressed in the brain and is highly enriched within postsynaptic densities. Experimental disruption of the IB2 gene in mice reduces AMPA and enhances NMDA receptor-mediated glutamatergic transmission in cerebellum, changes the morphology of Purkinje cell dendritic arbors, and induces motor and cognitive deficits suggesting an autism phenotype. These findings support a role for human IB2 mutation as a contributing genetic factor in Chr22qter-associated cognitive disorders.

Original languageEnglish
Pages (from-to)14805-14816
Number of pages12
JournalJournal of Neuroscience
Volume30
Issue number44
DOIs
Publication statusPublished - Nov 3 2010

ASJC Scopus subject areas

  • Neuroscience(all)

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