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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. 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.

ORGANISM(S): Homo sapiens

SUBMITTER: Lars Jensen

PROVIDER: E-GEOD-17369 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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

Project description: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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NO001: Kdm5c controls promoter and enhancer activities

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Homo sapiens

Project description:Mental Retardation Patients

| PRJNA120323 | ENA