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Series GSE46832 Query DataSets for GSE46832
Status Public on Jun 01, 2013
Title De novo mutations in the genome organizer CTCF cause Intellectual Disability (ChIP-Seq)
Organism Homo sapiens
Experiment type Genome binding/occupancy profiling by high throughput sequencing
Summary An increasing number of genes involved in chromatin structure and epigenetic regulation has been implicated in a variety of developmental disorders, often including intellectual disability. By trio exome sequencing and subsequent mutational screening we now identified two de novo frameshift mutations and one de novo missense mutation in the CTCF gene in individuals with intellectual disability, microcephaly and growth retardation. Furthermore, a patient with a larger deletion including CTCF was identified. CTCF (CCCTC-binding factor) is one of the most important chromatin organizers in vertebrates and is involved in various chromatin regulation processes such as higher order of chromatin organization, enhancer function, and maintenance of three-dimensional chromatin structure. Transcriptome analyses in all three patients with point mutations revealed deregulation of genes involved in signal transduction and emphasized the role of CTCF in enhancer-driven expression of genes. Our findings indicate that haploinsufficiency of CTCF affects genomic interaction of enhancers and their regulated gene promoters that drive developmental processes and cognition.
Overall design ChIP-seq analysis of CTCF genomic binding sites in lymphocytes of a control individual (no replicates).
Contributor(s) Zweier CA, Huiqing Zhou J
Citation(s) 23746550
Submission date May 10, 2013
Last update date May 15, 2019
Contact name Jo Huiqing Zhou
Phone +31-24-3616850
Organization name Radboud University Nijmegen
Department Molecular Developmental Biology
Street address Geert Grooteplein 25/26
City Nijmegen
ZIP/Postal code 6525GA
Country Netherlands
Platforms (1)
GPL11154 Illumina HiSeq 2000 (Homo sapiens)
Samples (1)
GSM1138985 C4 ChIP-Seq
This SubSeries is part of SuperSeries:
GSE46833 De novo mutations in the genome organizer CTCF cause Intellectual Disability
BioProject PRJNA202443
SRA SRP022330

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Supplementary file Size Download File type/resource
GSE46832_RAW.tar 890.0 Kb (http)(custom) TAR (of BED, XLS)
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Raw data are available in SRA
Processed data provided as supplementary file

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