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| 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
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| 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.
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| Overall design |
ChIP-seq profiles of p63 in primary human keratinocytes established from two different normal individuals.
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| 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 |
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| Submission date |
Aug 12, 2009 |
| Last update date |
May 15, 2019 |
| Contact name |
Jo Huiqing Zhou |
| Organization name |
NCMLS
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| Department |
Human Genetics
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| Street address |
Geert Grooteplein 26-28
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| City |
Nijmegen |
| ZIP/Postal code |
6525 GA |
| Country |
Netherlands |
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| Platforms (1) |
| GPL9052 |
Illumina Genome Analyzer (Homo sapiens) |
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| Samples (3) |
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| Relations |
| SRA |
SRP002281 |
| BioProject |
PRJNA118565 |
| 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 Selector |
| Processed data provided as supplementary file |
| Raw data are available in SRA |
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