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Series GSE73747 Query DataSets for GSE73747
Status Public on Aug 03, 2016
Title Epigenetic Dysregulation in the Developing Down Syndrome Brain
Organism Homo sapiens
Experiment type Methylation profiling by array
Summary Using Illumina 450K arrays, 1.85% of analyzed CpG sites were hypermethylated and 0.31% hypomethylated in fetal Down syndrome (DS) cortex throughout the genome. The vast majority of differentially methylated promoters and genes was hypermethylated in DS and located outside chromosome 21, including the γ-protocadherin (PCDHG) cluster on chromosome 5q31, which is crucial for neural circuit formation in the developing brain. Bisulfite pyrosequencing and targeted RNA sequencing showed that several genes of PCDHG subfamilies A and B are hypermethylated and transcriptionally downregulated in fetal DS cortex. Decreased PCDHG expression is expected to reduce dendrite arborization and growth in cortical neurons. Dysregulation of CPT1B and NOX5 may be associated with mitochondrial dysfunction and increased cell damage in the developing DS brain. Since constitutive hypermethylation of PCDHG and other genes affects multiple tissues, including blood, it may provide useful biomarkers for DS brain development and pharmacologic targets for therapeutic interventions.
 
Overall design Bisulphite converted DNA from the 72 samples were hybridised to the Illumina HumanMethylation450 BeadChip
 
Contributor(s) Haaf T
Citation(s) 27245352
Submission date Oct 05, 2015
Last update date Mar 22, 2019
Contact name Marcus Dittrich
Organization name University of Würzburg
Department Biozentrum
Street address Biozentrum, Am Hubland
City Würzburg
ZIP/Postal code 97074
Country Germany
 
Platforms (1)
GPL13534 Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482)
Samples (72)
GSM1901999 Sample 1 Fetal Brain (Frontal) - Normal
GSM1902000 Sample 2 Fetal Brain (Frontal) - Normal
GSM1902001 Sample 3 Fetal Brain (Frontal) - Trisomy
Relations
BioProject PRJNA297812

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
GSE73747_RAW.tar 183.1 Mb (http)(custom) TAR
GSE73747_unmethylated_methylated.txt.gz 171.9 Mb (ftp)(http) TXT
Processed data included within Sample table
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