Genomics

Dataset Information

24

NONO mutations are a novel cause of syndromic intellectual disability and inhibitory synaptic defects


ABSTRACT: This SuperSeries is composed of the SubSeries listed below. Overall design: Refer to individual Series

INSTRUMENT(S): Illumina HiSeq 2000 (Mus musculus)

SUBMITTER: Steven A. Brown  

PROVIDER: GSE62575 | GEO | 2015-11-14

SECONDARY ACCESSION(S): GSE62571PRJNA264458 GSE62573

REPOSITORIES: GEO

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Publications


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]

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