Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome. Issue 10 (October 2015)

• Record Type: Journal Article
• Authors: Basson, M. Albert; van Ravenswaaij-Arts, Conny
• Is Part Of: Trends in genetics. Volume 31:Issue 10(2015)
• Page Start: 600
• Page End: 611
• Publication Date: 2015-10
• Subjects: Genetics -- Periodicals; 576.5
• DOI: 10.1016/j.tig.2015.05.009
• Languages: English
• ISSNs: 0168-9525

Abstract

<abstract abstract-type="author" id="abs0005"> <title> <x xml:space="preserve">Abstract</x> </title> <sec> <p id="spar0005">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 (<italic>CHD7</italic>), 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 <italic>in vivo</italic> 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.</p> </sec> </abstract>