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Series GSE228566 Query DataSets for GSE228566
Status Public on Jun 09, 2023
Title Nr2f1 shapes mitochondria in the mouse brain unraveling novel insights into the neurodevelopmental disorder BBSOAS
Organism Mus musculus
Experiment type Expression profiling by high throughput sequencing
Summary The nuclear receptor Nr2f1 acts as a strong transcriptional regulator in embryonic and postnatal neural cells. In humans, its mutations cause the Bosch-Boonstra-Schaaf optic atrophy-intellectual syndrome (BBSOAS), a rare neurodevelopmental disorder characterized by multiple clinical features including optic nerve atrophy, intellectual disability, and autistic traits. In this study, by genome-wide and in silico analyses we identified a wide set of nuclear-encoded mitochondrial genes as potential genomic targets under direct Nr2f1 transcriptional control in neurons. By combining mouse genetics, neuroanatomical and imaging approaches we demonstrated that conditional Nr2f1 loss-of-function within the adult mouse hippocampal neurogenic niche results in a reduced mitochondrial mass associated with mitochondrial fragmentation and downregulation of key mitochondrial proteins in newborn neurons, whose functional integration and survival are impaired. Importantly, we also found dysregulation of several mitochondrial genes and downregulation in levels of key mitochondrial proteins in the brain of mice heterozygous for Nr2f1, a validated BBSOAS model. Our data point to an active role of Nr2f1 in the mitochondrial gene expression regulatory network in neurons and support the involvement of mitochondrial dysfunction in BBSOAS pathogenesis.
 
Overall design 3 samples
 
Contributor(s) Bonzano S, Dallorto E, Molineris I, Michelon F, Crisci I, Gambarotta G, Neri F, Oliviero S, Beckervordersandforth R, Lie DC, Peretto P, Bovetti S, Studer M, De Marchis S
Citation(s) 37260288
Submission date Mar 30, 2023
Last update date Sep 11, 2023
Contact name Ivan Molineris
Organization name University of Turin
Department Life Science and System Biology
Lab Epigenetics Labs
Street address Via Nizza 52
City Torino
State/province TO
ZIP/Postal code 10126
Country Italy
 
Platforms (1)
GPL19057 Illumina NextSeq 500 (Mus musculus)
Samples (3)
GSM7124207 Coup-TF1_Cortex
GSM7124208 IgG_r_Cortex
GSM7124209 K4me3_Cortex_nogel
Relations
BioProject PRJNA950374

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
GSE228566_RAW.tar 1020.0 Kb (http)(custom) TAR (of BED)
SRA Run SelectorHelp
Raw data are available in SRA
Processed data provided as supplementary file

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