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Series GSE122434 Query DataSets for GSE122434
Status Public on Oct 01, 2019
Title Systemic effects of the long noncoding RNA COSMOC in autism spectrum disorders
Organism Homo sapiens
Experiment type Expression profiling by array
Summary Autism Spectrum Disorders are complex neurodevelopmental disorders often attributed to specific mutated genes that collectively affect less than 10% of autists. We recently identified MOCOS, a molybdenum cofactor sulfurase-coding gene that was downregulated in stem cells of most autists of a cohort, disturbing redox homeostasis and synaptogenesis. We now report that, upstream of MOCOS, a divergent transcription generates an antisense long noncoding RNA called COSMOC. Remarkably, COSMOC expression is very low in all patients of this cohort. Knockdown studies indicates that loss of COSMOC reduces MOCOS expression, destabilizes lipid metabolism and affects energy metabolism of stem cells. Moreover, COSMOC deficiency is associated with defective neuronal maturation through the splicing regulator PTBP2 and the postsynaptic scaffold protein PSD95 involved in synaptic transmission. This dysregulation of COSMOC/MOCOS bidirectional unit might explain the origin of the disease for most autists
 
Overall design Transcriptome analysis of two different primary cultures of human olfactory stem cells (OSC) isolated from two healthy individuals (C1 and C2) by microarray. Stem cells (used at a low passage number) were treated for 48 hours with siRNA against the lncRNA COSMOC and compared to controls. Samples include 8 OSC samples representing 4 groups with two replicates each.
 
Contributor(s) Rontani P, Perche O, Greetham L, Jullien N, Erard F, Quesniaux V, Ryffel B, Nivet E, Erard-Garcia M
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Submission date Nov 13, 2018
Last update date Oct 02, 2019
Contact name Madeleine Erard-Garcia
E-mail(s) madeleine.erard@cnrs-orleans.fr
Organization name 1UMR 7051, INP, CNRS and Aix-Marseille University
Street address 51 Blvd Pierre Dramard
City Marseille
ZIP/Postal code 13344
Country France
 
Platforms (1)
GPL5175 [HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [transcript (gene) version]
Samples (8)
GSM3466483 OSC Ctrl Individual 1 (C1) replica 1
GSM3466484 OSC Ctrl Individual 1 (C1) replica 2
GSM3466485 OSC Ctrl Individual 2 (C2) replica 1
Relations
BioProject PRJNA505250

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE122434_RAW.tar 176.7 Mb (http)(custom) TAR (of CEL, CHP)
Processed data included within Sample table
Processed data provided as supplementary file

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