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Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome

Research output: Contribution to journalReview article

M. Albert Basson, Conny van Ravenswaaij-Arts

Original languageEnglish
Pages (from-to)600-611
Number of pages12
JournalTrends in Genetics
Volume31
Issue number10
DOIs
Publication statusPublished - Oct 2015

King's Authors

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.

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