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Series GSE227579 Query DataSets for GSE227579
Status Public on Feb 28, 2024
Title The complex etiology of autism spectrum disorder due to missense mutations of CHD8
Organism Mus musculus
Experiment type Expression profiling by high throughput sequencing
Genome binding/occupancy profiling by high throughput sequencing
Summary CHD8 is an ATP-dependent chromatin-remodeling factor encoded by the most frequently mutated gene in individuals with autism spectrum disorder (ASD). Although many studies have examined the consequences of CHD8 haploinsufficiency in cells and mice, few have focused on missense mutations, the most common type of CHD8 alteration in ASD patients. We here characterized CHD8 missense mutations in ASD patients according to six prediction scores and experimentally examined the effects of such mutations on the biochemical activities of CHD8, neural differentiation of embryonic stem cells, and mouse behavior. Only mutations with high prediction scores gave rise to ASD-like phenotypes in mice, suggesting that not all CHD8 missense mutations detected in ASD patients are directly responsible for the development of ASD. Furthermore, we found that mutations with high scores cause ASD by mechanisms either dependent on or independent of loss of chromatin-remodeling function. Our results thus provide insight into the molecular underpinnings of ASD pathogenesis caused by missense mutations of CHD8.
Overall design RNA-seq and ChIP-seq
Contributor(s) Shiraishi T, Katayama Y, Nishiyama M, Shoji H, Miyakawa T, Mizoo T, Matsumoto A, Hijikata A, Shirai T, Mayanagi K, Nakayama KI
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Submission date Mar 17, 2023
Last update date Feb 28, 2024
Contact name Taichi Shiraishi
Phone 092-642-6820
Organization name Kyushu university
Department Medical institute of bioregulation
Lab Molecular and cellular biology
Street address 1-1-3 Maidashi Higashiku Fukuoka
City Fukuoka
ZIP/Postal code 812-8582
Country Japan
Platforms (1)
GPL24247 Illumina NovaSeq 6000 (Mus musculus)
Samples (70)
GSM7103345 WT ES RNA-seq replicate 1
GSM7103346 WT ES RNA-seq replicate 2
GSM7103347 WT ES RNA-seq replicate 3
BioProject PRJNA945861

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
GSE227579_RAW.tar 4.4 Gb (http)(custom) TAR (of BIGWIG)
GSE227579_RNA_Seq_TPM.txt.gz 13.2 Mb (ftp)(http) TXT
SRA Run SelectorHelp
Processed data are available on Series record
Processed data provided as supplementary file
Raw data are available in SRA

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