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Series GSE17611 Query DataSets for GSE17611
Status Public on Aug 15, 2010
Title Genome-wide profiling of p63 binding sites identifies genes and regulatory elements for p63-related disorders
Organism Homo sapiens
Experiment type Genome binding/occupancy profiling by high throughput sequencing
Summary We identified p63 target genes and binding sites responsible for ectodermal defects by genome-wide profiling of p63 binding using ChIP-seq and expression analysis in human primary keratinocytes from patients with p63 mutations. As proof of principle, we identified a novel de novo microdeletion causing limb defects (SHFM1) that includes a p63 binding site functioning as a cis-regulatory element to control expression of the distally located DLX5/DLX6 genes essential for limb development. Our data demonstrate that target genes and regulatory elements detected in this study can serve as powerful tools to identify causative mutations of unresolved ectodermal disorders.
 
Overall design ChIP-seq profiles of p63 in primary human keratinocytes established from two different normal individuals.
 
Contributor(s) Rinne T, Kouwenhoven EN, van Heeringen SJ, Oti M, Tena JJ, Alonso ME, de la Calle-Mustienes E, Parsaulian L, Smeenk L, Bolat E, Dutilh BE, Huynen MA, Gilissen C, Hoischen A, Veltman JA, Tjabringa S, Schalkwijk J, Hamel B, Brunner HG, Roscioli T, Oates E, Wilson M, Manzanares M, Gómez-Skarmeta JL, Stunnenberg HG, Lohrum M, van Bokhoven H, Zhou H
Citation(s) 20808887
Submission date Aug 12, 2009
Last update date May 15, 2019
Contact name Jo Huiqing Zhou
Organization name NCMLS
Department Human Genetics
Street address Geert Grooteplein 26-28
City Nijmegen
ZIP/Postal code 6525 GA
Country Netherlands
 
Platforms (1)
GPL9052 Illumina Genome Analyzer (Homo sapiens)
Samples (3)
GSM439776 p63_1_ChIPSeq
GSM439777 p63_2_ChIPSeq
GSM538930 p63_3_ChIPSeq
Relations
SRA SRP002281
BioProject PRJNA118565

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
GSE17611_RAW.tar 190.3 Mb (http)(custom) TAR (of BED)
GSE17611_README.txt 550 b (ftp)(http) TXT
SRA Run SelectorHelp
Processed data provided as supplementary file
Raw data are available in SRA

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