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: M Albert Basson, Conny van Ravenswaaij-Arts
• Journal: Trends in genetics : TIG (Trends Genet) Vol. 31 Issue 10 Pg. 600-611 (Oct 2015) ISSN: 0168-9525 [Print] England
• PMID: 26411921 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: Copyright © 2015 Elsevier Ltd. All rights reserved.

Chemical References

• Chromatin
• DNA-Binding Proteins
• DNA Helicases
• CHD7 protein, human

Topics

• CHARGE Syndrome (genetics, pathology)
• Chromatin (genetics)
• Chromatin Assembly and Disassembly (genetics)
• DNA Helicases (biosynthesis, genetics)
• DNA-Binding Proteins (biosynthesis, genetics)
• Gene Expression Regulation, Developmental
• Humans
• Mutation