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Series GSE154700 Query DataSets for GSE154700
Status Public on Mar 31, 2022
Title BPTF is essential for murine neocortical development
Organism Mus musculus
Experiment type Expression profiling by high throughput sequencing
Summary Chromatin remodeling complexes modulate DNA accessibility permitting neuronal progenitor cells to proliferate and differentiate to form the mammalian neocortex. In the case of BPTF, the major subunit of a chromatin remodelling complex called NURF, mutations leading to its haploinsufficiency have been linked to cause a recently annotated human neurodevelopmental disorder called NEDDFL (Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies). Patients with this syndrome are mainly characterized with microcephaly and intellectual disability. We conditionally knockout (cKO) the Bptf gene during neocortical neurogenesis to analyze its role during embryonic and postnatal brain development. The Bptf cKO animals reveal significant forebrain hypoplasia. During cortical neurogenesis, the cKOs show a reduction in intermediate neuronal progenitor (INP) cells, an increase in apoptosis as well as a prolonged cell cycle of proliferating progenitors. Similarly, the cKOs have decreased proportions of pyramidal neurons expressing Ctip2 and Foxp1. Lastly, our RNA-seq analysis delineates gene pathways deregulated by Bptf’s removal, which are involved in neurogenesis and neuronal differentiation. Our results indicate that Bptf is critical for murine telencephalon neurogenesis. The hypoplasia demonstrated in the mouse model can resemble the microcephaly displayed by the human NEDFFL patients, highlighting the relevance of chromatin remodelling complexes during intricate neural developmental processes.
 
Overall design BPTF Emx1-Cre P0 forebrain mRNA stranded sequenced libraries
 
Contributor(s) Zapata G, Picketts DJ
Citation(s) 35604347
Submission date Jul 19, 2020
Last update date Jun 30, 2022
Contact name Dave Picketts
Phone 6137378899
Organization name OHRI
Department Regenerative Medicine
Lab Picketts
Street address 501 Smyth Road
City Ottawa
State/province Ontario
ZIP/Postal code K1H 8L6
Country Canada
 
Platforms (2)
GPL21103 Illumina HiSeq 4000 (Mus musculus)
GPL24247 Illumina NovaSeq 6000 (Mus musculus)
Samples (16)
GSM4677603 BPTF WT3
GSM4677604 BPTF WT4
GSM4677605 BPTF WT5
Relations
BioProject PRJNA647223
SRA SRP272499

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

Supplementary file Size Download File type/resource
GSE154700_RAW.tar 248.2 Mb (http)(custom) TAR (of H5, SF)
SRA Run SelectorHelp
Raw data are available in SRA
Processed data provided as supplementary file

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