Pathogenetics

Autor: Jensen, Lars, Bartenschlager, Heinz, Rujirabanjerd, Sinitdhorn, Tzschach, Andreas, Nümann, Astrid, Janecke, Andreas, Spörle, Ralf, Stricker, Sigmar, Raynaud, Martine, Nelson, John, Hackett, Anna, Fryns, Jean-Pierre, Chelly, Jamel, de Brouwer, Arjan, Hamel, Ben, Gecz, Jozef, Ropers, Hans-Hilger, Kuss, Andreas
Přispěvatelé: Department Human Molecular Genetics [MPIMG Berlin], Max Planck Institute for Molecular Genetics (MPIMG), Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, Department of Animal Breeding and Biotechnology, University of Hohenheim, Department of Molecular Pathology, SA Pathology and Women's and Children's Hospital, Genetische Poliklinik, Klinikum der Universität Heidelberg, Division of Clinical Genetics, Innsbruck Medical University [Austria] (IMU), Department of Developmental Genetics [Berlin], Development and Disease Group [Berlin], Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Genetic Services of Western Australia, King Edward Memorial Hospital for Women, The GOLD Service, Hunter Genetics, Centre for Human Genetics, University Hospital Leuven, Institut Cochin (UMR_S567 / UMR 8104), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Human Genetics [Nijmegen], Radboud University Medical Center [Nijmegen], Adelaide Medical School [Australia], University of Adelaide, The project was funded by The Nationale Genomforschungsnetz (NGFN2), Systematisch-Methodische Plattformen (SMP) RNA project (RS), The Sonderforschungsbereich 577 (SFB577), 5th European Union Framework, ZonMw., Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Innsbruck Medical University [Austria] ( IMU ), Max Planck Institute for Molecular Genetics ( MPIMG ), Development and Disease Group, Imagerie et cerveau, Université de Tours-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Institut Cochin ( UMR_S567 / UMR 8104 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Department of Paediatrics, Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), BMC, Ed., Innsbruck Medical University = Medizinische Universität Innsbruck (IMU)
Jazyk: angličtina
Rok vydání: 2010
Předmět:
Zdroj: Pathogenetics
PathoGenetics
PathoGenetics, 2010, 3 (1), pp.2. ⟨10.1186/1755-8417-3-2⟩
Pathogenetics, 3, 2-2
PathoGenetics, 2010, 3 (1), pp.2. 〈10.1186/1755-8417-3-2〉
Pathogenetics, 3, 1, pp. 2-2
ISSN: 1755-8417
DOI: 10.1186/1755-8417-3-2⟩
Popis: Contains fulltext : 89231.pdf (Publisher’s version ) (Open Access) 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.
Databáze: OpenAIRE
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