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Series GSE61169 Query DataSets for GSE61169
Status Public on Oct 30, 2015
Title Selective loss of 5hmC links to A-T Purkinje cell vulnerability
Organism Homo sapiens
Experiment type Expression profiling by array
Methylation profiling by high throughput sequencing
Summary This SuperSeries is composed of the SubSeries listed below.

The neurodegenerative disease known as ataxia-telangiectasia (A-T) is caused by the absence of the ATM (A-T mutated) protein. A long-standing mystery surrounding A-T is why cerebellar Purkinje cells (PCs) appear uniquely vulnerable to ATM-deficiency. Here, we present that 5-hydroxymethylcytosine (5hmC), a newly recognized epigenetic marker found at high levels in neurons, is substantially reduced in human A-T and Atm-/- mouse cerebellar PCs. TET1, an enzyme that converts 5mC to 5hmC, responds to DNA damage. Manipulation of TET1 activity directly affects neuronal cell cycle reentry and cell death after the induction of DNA damage. Quantitative, genome-wide analysis of 5hmC of samples from human cerebellum showed that in ATM-deficiency there is a remarkable genome-wide reduction of 5hmC enrichment at both proximal and distal regulatory elements. These results reveal a role of TET1-mediated 5hmC in DNA damage response, and provide insights into the basis of a PC-specific DNA demethylation alteration in ATM-deficiency.
Overall design Refer to individual Series
Citation(s) 26510954, 27538496
Submission date Sep 05, 2014
Last update date Mar 30, 2020
Contact name Ronald P. Hart
Phone 848-445-1783
Organization name Rutgers University
Department Cell Biology & Neuroscience
Street address 604 Allison Rd Rm B430
City Piscataway
State/province NJ
ZIP/Postal code 08854
Country USA
Platforms (2)
GPL10558 Illumina HumanHT-12 V4.0 expression beadchip
GPL16791 Illumina HiSeq 2500 (Homo sapiens)
Samples (19)
GSM1495583 Normal control, rep 1
GSM1495584 Normal control, rep 2
GSM1495585 Normal control, rep 3
This SuperSeries is composed of the following SubSeries:
GSE61019 Ataxia-telangiectasia cerebellar cortex expression
GSE61133 MeDIP analysis of 5mC and 5hmC marks in human ataxia-telangiectasia cerebellum
BioProject PRJNA260387

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
GSE61169_RAW.tar 1.3 Gb (http)(custom) TAR (of TAGALIGN)
SRA Run SelectorHelp

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