title: Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome.
abstract: CHARGE syndrome is a rare genetic syndrome characterised by a unique combination of multiple organ anomalies. Dominant loss-of-function mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7), which is an ATP-dependent chromatin remodeller, have been identified as the cause of CHARGE syndrome. Here, we review recent work aimed at understanding the mechanism of CHD7 function in normal and pathological states, highlighting results from biochemical and in vivo studies. The emerging picture from this work suggests that the mechanisms by which CHD7 fine-tunes gene expression are context specific, consistent with the pleiotropic nature of CHARGE syndrome.
authors.affiliation: King's College London, Department of Craniofacial Development and Stem Cell Biology and MRC Centre for Developmental Neurobiology, Floor 27, Guy's Hospital Tower Wing, London, SE1 9RT, UK. Electronic address: albert.basson@kcl.ac.uk.
authors.forename: M Albert
authors.initials: MA
authors.lastname: Basson
authors.affiliation: University of Groningen, University Medical Center Groningen, Department of Genetics, PO Box 30.001, 9700RB Groningen, The Netherlands.
authors.forename: Conny
authors.initials: C
authors.lastname: van Ravenswaaij-Arts
mesh_terms: D058747:CHARGE Syndrome / Q000235:genetics* / Q000473:pathology; D002843:Chromatin / Q000235:genetics; D042002:Chromatin Assembly and Disassembly / Q000235:genetics*; D004265:DNA Helicases / Q000096:biosynthesis / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000096:biosynthesis / Q000235:genetics*; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D009154:Mutation
chemical_list: D002843:Chromatin; D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human
keywords: CHARGE syndrome; CHD7; chromatin remodelling; congenital disease; epigenetic mechanisms