Reciprocal changes in DNA methylation and hydroxymethylation and a broad repressive epigenetic switch characterize FMR1 transcriptional silencing in fragile X syndrome

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• 作者：Sarah Brasa ; Arne Mueller ; Sébastien Jacquemont ; Florian Hahne…
• 关键词：Fragile X syndrome (FXS) ; Chromatin profiling ; Epigenetic silencing ; FMR1 ; 5 ; hydroxymethylation (5hmC) ; Clinical biomarker
• 刊名：Clinical Epigenetics
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：8
• 期：1
• 全文大小：4,052 KB
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• 作者单位：Sarah Brasa (1)
  Arne Mueller (1)
  Sébastien Jacquemont (2)
  Florian Hahne (1)
  Izabela Rozenberg (3)
  Thomas Peters (4)
  Yunsheng He (4)
  Christine McCormack (5)
  Fabrizio Gasparini (6)
  Salah-Dine Chibout (1)
  Olivier Grenet (1)
  Jonathan Moggs (1)
  Baltazar Gomez-Mancilla (3)
  Rémi Terranova (1)
  
  1. Preclinical Safety, Translational Medicine, Novartis Institutes for Biomedical Research, Novartis Pharma AG, CH-4057, Basel, Switzerland
  2. Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois, CH-1011, Lausanne, Switzerland
  3. Neuroscience Translational Medicine, Novartis Institutes for Biomedical Research, Novartis Pharma AG, CH-4056, Basel, Switzerland
  4. BioMarker Development, Novartis Institutes for Biomedical Research, Novartis Pharma AG, Cambridge, MA, USA
  5. Clinical Diagnostics, Novartis Institutes for Biomedical Research, Novartis Pharma AG, Cambridge, MA, USA
  6. Neuroscience, Novartis Institutes for Biomedical Research, Novartis Pharma AG, CH-4057, Basel, Switzerland
  
• 刊物主题：Human Genetics; Gene Function;
• 出版者：BioMed Central
• ISSN：1868-7083

文摘

Background Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, resulting from the loss of function of the fragile X mental retardation 1 (FMR1) gene. The molecular pathways associated with FMR1 epigenetic silencing are still elusive, and their characterization may enhance the discovery of novel therapeutic targets as well as the development of novel clinical biomarkers for disease status.