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Behavioral and Cerebellar Transmission Deficits in Mice Lacking the Autism-Linked Gene Islet Brain-2

Year: 2010
Type: article
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.
DOI: 10.1523/jneurosci.1161-10.2010
Authors: Joanna Giza, Michael J. Urbanski, Francesca Prestori, Bhaswati Bandyopadhyay, Annie Yam, Victor Friedrich, Kevin Kelley, Egidio D'Angelo, Mitchell Goldfarb
Institutions: City University of New York, Hunter College, University of Pavia, Icahn School of Medicine at Mount Sinai, Fondazione Istituto Neurologico Nazionale Casimiro Mondino, Department of Biological Sciences
Language: English
Subfield: Genetics
Open Access status: hybrid
OpenAlex ID: W1968782484
FWCI: 1.971
Cites: 62
Cited by: 67
Related to: 10