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  A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylose KDM5C.

Jensen, L. R., Bartenschlager, H., Rujirabanjerd, S., Tzschach, A., Nümann, A., Janecke, A. R., et al. (2010). A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylose KDM5C. Pathogenetics, 2(3), 2-2. doi:10.1186/1755-8417-3-2.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7BF4-3 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-002C-5128-5
Genre: Journal Article
Alternative Title : Pathogenetics

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Jensen, Lars R.1, Author              
Bartenschlager, Heinz, Author
Rujirabanjerd, Sinitdhorn, Author
Tzschach, Andreas2, Author              
Nümann, Astrid, Author
Janecke, Andreas R., Author
Spörle, Ralf3, Author              
Stricker, Sigmar3, Author              
Raynaud, Martine, Author
Nelson, John, Author
Hackett, Anna, Author
Fryns, Jean-Pierre, Author
Chelly, Jamel, Author
de Brouwer, Arjan P. M., Author
Hamel, Ben, Author
Gecz, Jozef, Author
Ropers, Hans-Hilger2, Author              
Kuss, Andreas W.4, Author              
Affiliations:
1Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, Ihnestraße 63-73, 14195 Berlin, DE, ou_1433547              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
4Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              

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 Abstract: Background: Mental retardation is a genetically heterogeneous disorder, as more than 90 genes for this disorder has been found on the X chromosome alone. In addition the majority of patients are non-syndromic in that they do not present with clinically recognisable features. This makes it difficult to determine the molecular cause of this disorder on the basis of the phenotype alone. Mutations in KDM5C (previously named SMCX or JARID1C), a gene that encodes a transcriptional regulator with histone demethylase activity specific for dimethylated and trimethylated 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. Results: By whole-mount in situ hybridisation we showed that the mouse homologue of KDM5C is expressed in multiple tissues during mouse development. 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 quantitative reverse transcriptase polymerase chain reaction (QRT-PCR) experiments, we identified several genes, including CMKOR1, KDM5B and KIAA0469 that were consistently deregulated in both tissues. Conclusions: Our findings shed light on the pathological mechanisms underlying mental retardation and have implications for future diagnostics of this heterogeneous disorder.

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Language(s): eng - English
 Dates: 2010-02-01
 Publication Status: Published in print
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Title: Pathogenetics
  Alternative Title : Pathogenetics
Source Genre: Journal
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Pages: - Volume / Issue: 2 (3) Sequence Number: - Start / End Page: 2 - 2 Identifier: ISSN: 1755-8417