Dataset Information

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.

ABSTRACT: The NONO protein has been characterized as an important transcriptional regulator in diverse cellular contexts. Here we show that loss of NONO function is a likely cause of human intellectual disability and that NONO-deficient mice have cognitive and affective deficits. Correspondingly, we find specific defects at inhibitory synapses, where NONO regulates synaptic transcription and gephyrin scaffold structure. Our data identify NONO as a possible neurodevelopmental disease gene and highlight the key role of the DBHS protein family in functional organization of GABAergic synapses.

SUBMITTER: Mircsof D

PROVIDER: S-EPMC5392243 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature

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Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.

Mircsof Dennis D Langouët Maéva M Rio Marlène M Moutton Sébastien S Siquier-Pernet Karine K Bole-Feysot Christine C Cagnard Nicolas N Nitschke Patrick P Gaspar Ludmila L Žnidarič Matej M Alibeu Olivier O Fritz Ann-Kristina AK Wolfer David P DP Schröter Aileen A Bosshard Giovanna G Rudin Markus M Koester Christina C Crestani Florence F Seebeck Petra P Boddaert Nathalie N Prescott Katrina K Hines Rochelle R Moss Steven J SJ Fritschy Jean-Marc JM Munnich Arnold A Amiel Jeanne J Brown Steven A SA Tyagarajan Shiva K SK Colleaux Laurence L

Nature neuroscience 20151116 12

The NONO protein has been characterized as an important transcriptional regulator in diverse cellular contexts. Here we show that loss of NONO function is a likely cause of human intellectual disability and that NONO-deficient mice have cognitive and affective deficits. Correspondingly, we find specific defects at inhibitory synapses, where NONO regulates synaptic transcription and gephyrin scaffold structure. Our data identify NONO as a possible neurodevelopmental disease gene and highlight the ...[more]

PMID: 26571461

Dataset Information

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.

Publications

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.

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