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| Status |
Public on Nov 14, 2015 |
| Title |
Comparative Analysis of the hippocampal transcriptome of WT and NONO KO mice |
| Organism |
Mus musculus |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
Identifying causes of sporadic intellectual disability remains a considerable medical challenge. Here, we demonstrate that null mutations in the NONO gene, a member of the Drosophila Behavior Human Splicing (DBHS) protein family, are a novel cause of X-linked syndromic intellectual disability. Comparing humans to Nono-deficient mice revealed related behavioral and craniofacial anomalies, as well as global transcriptional dysregulation. Nono-deficient mice also showed deregulation of a large number of synaptic transcripts, causing a disorganization of inhibitory synapses, with impaired postsynaptic scaffolding of gephyrin. Alteration of gephyrin clustering could be rescued by over-expression of Gabra2 in NONO-compromised neurons. These findings link NONO to intellectual disability and first highlight the key role of DBHS proteins in functional organization of GABAergic synapses.
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| |
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| Overall design |
Hippocampal mRNA profiles of adult wild type (WT) and NONO KO mice were generated by deep sequencing, in six replicates using Illumina
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| |
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| Contributor(s) |
Mircsof D, Brown SA |
| Citation(s) |
26571461 |
| |
| Submission date |
Oct 22, 2014 |
| Last update date |
May 15, 2019 |
| Contact name |
Steven A. Brown |
| E-mail(s) |
steven.brown@pharma.uzh.ch
|
| Organization name |
University Zurich
|
| Street address |
Winterthurerstrasse 190
|
| City |
Zurich |
| ZIP/Postal code |
8057 |
| Country |
Switzerland |
| |
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| Platforms (1) |
| GPL13112 |
Illumina HiSeq 2000 (Mus musculus) |
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| Samples (12)
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| This SubSeries is part of SuperSeries: |
| GSE62575 |
NONO mutations are a novel cause of syndromic intellectual disability and inhibitory synaptic defects |
|
| Relations |
| BioProject |
PRJNA264457 |
| SRA |
SRP049139 |
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