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Review
. 2019 Feb;10(1):21-28.
doi: 10.1080/21541264.2018.1521213. Epub 2018 Sep 20.

Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes

Félix-Antoine Bérubé-Simard  1   2 , Nicolas Pilon  1   2   3
Affiliations
Review

Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes

Félix-Antoine Bérubé-Simard et al. Transcription. 2019 Feb.

Abstract

CHARGE syndrome is characterized by co-occurrence of multiple malformations due to abnormal development of neural crest cells. Here, we review the phenotypic and molecular overlap between CHARGE syndrome and similar pathologies, and further discuss the observation that neural crest cells appear especially sensitive to malfunction of the chromatin-transcription-splicing molecular hub.

Keywords: Alternative splicing; CHARGE syndrome; Chromatin; Neural crest cells; Neurocristopathies; Spliceosomopathies.

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Figures

Figure 1.
Figure 1.
Potential mode of action of Fam172a in Ago2-mediated alternative splicing. Although the relationship between all players shown remains to be characterized in detail, current data suggest that the presence of Fam172a at the chromatin-spliceosome interface helps stabilizing protein-protein interactions between the small-RNA binding protein Ago2, chromatin remodelers such as Chd7 and histone modifiers such as Ehmt2. Model adapted from Refs [22,24].
See this image and copyright information in PMC

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