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