eprintid: 20551
rev_number: 11
eprint_status: archive
userid: 1589
dir: disk0/00/02/05/51
datestamp: 2016-04-25 12:52:27
lastmod: 2024-05-03 13:06:43
status_changed: 2016-04-25 12:52:27
type: article
metadata_visibility: show
creators_name: Jensen, Lars R.
creators_name: Bartenschlager, Heinz
creators_name: Rujirabanjerd, Sinitdhorn
creators_name: Tzschach, Andreas
creators_name: Nümann, Astrid
creators_name: Janecke, Andreas R.
creators_name: Spörle, Ralf
creators_name: Stricker, Sigmar
creators_name: Raynaud, Martine
creators_name: Nelson, John
creators_name: Hackett, Anna
creators_name: Fryns, Jean-Pierre
creators_name: Chelly, Jamel
creators_name: de Brouwer, Arjan PM
creators_name: Hamel, Ben
creators_name: Gecz, Jozef
creators_name: Ropers, Hans-Hilger
creators_name: Kuss, Andreas W.
title: A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
subjects: ddc-610
divisions: i-911500
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.
date: 2010
publisher: BioMed Central
id_scheme: DOI
ppn_swb: 1656489376
own_urn: urn:nbn:de:bsz:16-heidok-205519
language: eng
bibsort: JENSENLARSADISTINCTI2010
full_text_status: public
publication: PathoGenetics
volume: 3
number: 2
place_of_pub: London
pagerange: 1-9
issn: 1755-8417
citation:   Jensen, Lars R. ; Bartenschlager, Heinz ; Rujirabanjerd, Sinitdhorn ; Tzschach, Andreas ; Nümann, Astrid ; Janecke, Andreas R. ; Spörle, Ralf ; Stricker, Sigmar ; Raynaud, Martine ; Nelson, John ; Hackett, Anna ; Fryns, Jean-Pierre ; Chelly, Jamel ; de Brouwer, Arjan PM ; Hamel, Ben ; Gecz, Jozef ; Ropers, Hans-Hilger ; Kuss, Andreas W.  (2010) A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.  PathoGenetics, 3 (2).  pp. 1-9.  ISSN 1755-8417     
document_url: https://archiv.ub.uni-heidelberg.de/volltextserver/20551/1/13070_2009_Article_1.pdf