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PMID:21048139

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Citation

Giza, J, Urbanski, MJ, Prestori, F, Bandyopadhyay, B, Yam, A, Friedrich, V, Kelley, K, D'Angelo, E and Goldfarb, M (2010) Behavioral and cerebellar transmission deficits in mice lacking the autism-linked gene islet brain-2. J. Neurosci. 30:14805-16

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.

Links

PubMed PMC3200367 Online version:10.1523/JNEUROSCI.1161-10.2010

Keywords

Adaptor Proteins, Signal Transducing/deficiency; Adaptor Proteins, Signal Transducing/genetics; Animals; Cerebellar Diseases/genetics; Cerebellar Diseases/metabolism; Cerebellar Diseases/physiopathology; Child Development Disorders, Pervasive/genetics; Child Development Disorders, Pervasive/metabolism; Child Development Disorders, Pervasive/physiopathology; Chromosomes, Human, Pair 22/genetics; Cognition Disorders/genetics; Cognition Disorders/metabolism; Cognition Disorders/physiopathology; Disease Models, Animal; Female; Genetic Predisposition to Disease/genetics; Humans; Infant, Newborn; Male; Mental Disorders/genetics; Mental Disorders/metabolism; Mental Disorders/physiopathology; Mice; Mice, Knockout; Mice, Transgenic; Receptors, AMPA/metabolism; Receptors, N-Methyl-D-Aspartate/metabolism; Synaptic Transmission/genetics

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:JIP2

involved_in

GO:0001662: behavioral fear response

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:JIP2

involved_in

GO:0007617: mating behavior

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:JIP2

involved_in

GO:0010469: regulation of signaling receptor activity

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:JIP2

located_in

GO:0014069: postsynaptic density

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:JIP2

involved_in

GO:2000311: regulation of AMPA receptor activity

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:JIP2

involved_in

GO:2000310: regulation of NMDA receptor activity

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:JIP2

involved_in

GO:0051966: regulation of synaptic transmission, glutamatergic

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:JIP2

involved_in

GO:0048813: dendrite morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:JIP2

involved_in

GO:0060079: excitatory postsynaptic potential

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:JIP2

involved_in

GO:0046958: nonassociative learning

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:JIP2

involved_in

GO:0035176: social behavior

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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