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| Status |
Public on Jul 29, 2009 |
| Title |
A gene expression fingerprint in mental retardation reflects disease causing defects in the histone demethylase KDM5 |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
|
| Summary |
Mutations in KDM5C, (previously named SMCX or JARID1C) a gene that encodes a transcriptional regulator with histone-demethylase activity specific for di- and tri-methylated H3K4, are a comparatively frequent cause of non-syndromic X-linked mental retardation (NS-XLMR). Specific transcriptional targets of KDM5C, however, are still unknown and the effects of KDM5C deficiency on gene expression have not yet been investigated. Here we present the results of gene expression profiling performed on lymphoblastoid cell lines as well as blood from patients with mutations in KDM5C. Using whole genome expression arrays and QRT-PCR we identified several genes, including CMKOR1, JARID1B and KIAA0469 that were consistently deregulated in both tissues. These findings shed light on the patho-mechanisms underlying mental retardation and may have implications for future diagnostics of this heterogeneous disorder.
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| Overall design |
We compared the mRNA expression of a patient lymphoblastoid cell line deficient for KDM5C with that of three controls to identify genes that are deregulated in the patient cell line.
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| Contributor(s) |
Jensen LR, Kuss AW |
| Citation(s) |
20181063 |
| |
| Submission date |
Jul 28, 2009 |
| Last update date |
Jan 25, 2013 |
| Contact name |
Lars Riff Jensen |
| E-mail(s) |
[email protected]
|
| Phone |
(+49) 030 8413 1253
|
| Fax |
(+49) 030 8413 1394
|
| Organization name |
Max Planck Institute
|
| Department |
Human Molecular Genetics
|
| Lab |
Familial Cognitive Disorders
|
| Street address |
Ihnestrasse 73
|
| City |
Berlin |
| ZIP/Postal code |
14195 |
| Country |
Germany |
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| Platforms (1) |
| GPL6097 |
Illumina human-6 v1.0 expression beadchip |
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| Samples (4)
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| Relations |
| BioProject |
PRJNA119097 |
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