Transcriptomics

Dataset Information

0

A gene expression fingerprint in mental retardation reflects disease causing defects in the histone demethylase KDM5


ABSTRACT: 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.

ORGANISM(S): Homo sapiens

PROVIDER: GSE17369 | GEO | 2009/07/29

SECONDARY ACCESSION(S): PRJNA119097

REPOSITORIES: GEO

Dataset's files

Source:
Action DRS
Other
Items per page:
1 - 1 of 1

Similar Datasets

2010-08-19 | E-GEOD-17369 | biostudies-arrayexpress
2009-12-16 | GSE19457 | GEO
2010-05-18 | E-GEOD-19457 | biostudies-arrayexpress
2021-08-05 | GSE23557 | GEO
2009-04-01 | GSE13117 | GEO
2007-03-12 | GSE7226 | GEO
2005-09-16 | GSE3191 | GEO
2010-05-28 | E-GEOD-20533 | biostudies-arrayexpress
2011-12-22 | E-GEOD-30191 | biostudies-arrayexpress
2008-06-21 | E-GEOD-7226 | biostudies-arrayexpress