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| Status |
Public on May 28, 2009 |
| Title |
Impaired Cohesin Loading in Cornelia de Lange Syndrome Results in a Highly Specific Pattern of Dysregulated Genes |
| Organism |
Homo sapiens |
| Experiment type |
Genome binding/occupancy profiling by genome tiling array
|
| Summary |
Heterozygous mutations in the cohesin regulator, NIPBL, or cohesin structural components SMC1A, and SMC3, result in Cornelia de Lange Syndrome (CdLS). Genome-wide transcription assessment has identified unique profiles of genes dysregulated in CdLS that correlate with different clinical presentations. Cohesin binding analysis demonstrates a preference for intergenic regions suggesting a cis-regulatory function mimicking that of an insulator. However, the binding sites are enriched within the promoter regions of the dysregulated genes and are significantly decreased in CdLS probands, indicating an alternative role of cohesin as a classic transcription factor.
Keywords: ChIP-chip
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| Overall design |
This series contains two sets of whole genome ChIP-chip data. The experiments were done for the cohesin subunit hScc1.
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| Contributor(s) |
Shirahige K, Bando M, Itoh T |
| Citation(s) |
19468298, 20448023 |
| |
| Submission date |
Aug 28, 2008 |
| Last update date |
Mar 20, 2012 |
| Contact name |
Katsuhiko Shirahige |
| E-mail(s) |
kshirahi@iam.u-tokyo.ac.jp
|
| Phone |
+81-3-5842-0756
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| Fax |
+81-3-5842-0757
|
| URL |
http://www.iam.u-tokyo.ac.jp/chromosomeinformatics/
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| Organization name |
The University of Tokyo
|
| Department |
Research Center for Epigenetic Disease
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| Lab |
Laboratory of Genome Structure and Function
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| Street address |
1-1-1 Yayoi
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| City |
Bunkyo-ku |
| State/province |
Tokyo |
| ZIP/Postal code |
113-0032 |
| Country |
Japan |
| |
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| Platforms (7)
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| GPL7222 |
Affymetrix GeneChip Human Tiling 2.0R Array Set_Array 1of7 (NCBI Build 36) |
| GPL7223 |
Affymetrix GeneChip Human Tiling 2.0R Array Set_Array 2of7 (NCBI Build 36) |
| GPL7224 |
Affymetrix GeneChip Human Tiling 2.0R Array Set_Array 3of7 (NCBI Build 36) |
| GPL7225 |
Affymetrix GeneChip Human Tiling 2.0R Array Set_Array 4of7 (NCBI Build 36) |
| GPL7226 |
Affymetrix GeneChip Human Tiling 2.0R Array Set_Array 5of7 (NCBI Build 36) |
| GPL7227 |
Affymetrix GeneChip Human Tiling 2.0R Array Set_Array 6of7 (NCBI Build 36) |
| GPL7228 |
Affymetrix GeneChip Human Tiling 2.0R Array Set_Array 7of7 (NCBI Build 36) |
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| Samples (14)
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| Relations |
| BioProject |
PRJNA112861 |
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