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

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.

• Authors: Félix-Antoine Bérubé-Simard, Nicolas Pilon
• Journal: Transcription (Transcription) Vol. 10 Issue 1 Pg. 21-28 (02 2019) ISSN: 2154-1272 [Electronic] United States
• PMID: 30205741 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Topics

• Alternative Splicing
• CHARGE Syndrome (genetics)
• Humans
• Models, Genetic
• Neural Crest (growth & development, metabolism, pathology)
• Transcription, Genetic