Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome

M. Albert Basson*, Conny van Ravenswaaij-Arts

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

35 Citations (Scopus)

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.

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

Keywords

  • CHD7 GENE
  • DEVELOPMENTAL DISORDERS
  • EARLY EMBRYOGENESIS
  • MOUSE MODELS
  • AUTISM RISK
  • INNER-EAR
  • MUTATIONS
  • DNA
  • SPECTRUM
  • ENZYME

Cite this