Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome

M. Albert Basson; Conny van Ravenswaaij-Arts

doi:10.1016/j.tig.2015.05.009

Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome

M. Albert Basson^*, Conny van Ravenswaaij-Arts

^*Corresponding author for this work

Centre for Craniofacial & Regenerative Biology

Research output: Contribution to journal › Review article › peer-review

70 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 language	English
Pages (from-to)	600-611
Number of pages	12
Journal	Trends in Genetics
Volume	31
Issue number	10
DOIs	https://doi.org/10.1016/j.tig.2015.05.009
Publication status	Published - Oct 2015

Keywords

CHARGE syndrome
CHD7
Chromatin remodelling
Congenital disease
Epigenetic mechanisms

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10.1016/j.tig.2015.05.009

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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.",

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AU - van Ravenswaaij-Arts, Conny

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N2 - 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.

AB - 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.

KW - CHARGE syndrome

KW - CHD7

KW - Chromatin remodelling

KW - Congenital disease

KW - Epigenetic mechanisms

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JO - Trends in Genetics

JF - Trends in Genetics

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Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome

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