The emerging roles of TCF4 in disease and development.

Abstract

Genome-wide association studies have identified common variants in transcription factor 4 (TCF4) as susceptibility loci for schizophrenia, Fuchs' endothelial corneal dystrophy, and primary sclerosing cholangitis. By contrast, rare TCF4 mutations cause Pitt-Hopkins syndrome, a disorder characterized by intellectual disability and developmental delay, and have also been described in patients with other neurodevelopmental disorders. TCF4 therefore sits at the nexus between common and rare disorders. TCF4 interacts with other basic helix-loop-helix proteins, forming transcriptional networks that regulate the differentiation of several distinct cell types. Here, we review the role of TCF4 in these seemingly diverse disorders and discuss recent data implicating TCF4 as an important regulator of neurodevelopment and epithelial-mesenchymal transition.

• Authors: Marc P Forrest, Matthew J Hill, Andrew J Quantock, Enca Martin-Rendon, Derek J Blake
• Journal: Trends in molecular medicine (Trends Mol Med) Vol. 20 Issue 6 Pg. 322-31 (Jun 2014) ISSN: 1471-499X [Electronic] England
• PMID: 24594265 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: Copyright © 2014 Elsevier Ltd. All rights reserved.

Chemical References

• Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
• Basic Helix-Loop-Helix Transcription Factors
• TCF4 protein, human
• Transcription Factor 4
• Transcription Factors

Topics

• Basic Helix-Loop-Helix Leucine Zipper Transcription Factors (genetics, metabolism)
• Basic Helix-Loop-Helix Transcription Factors (genetics)
• Cognition (physiology)
• Epithelial-Mesenchymal Transition (genetics)
• Facies
• Gene Expression Regulation
• Humans
• Hyperventilation (genetics)
• Intellectual Disability (genetics)
• Iridocorneal Endothelial Syndrome (genetics)
• Liver Diseases (genetics)
• Mutation
• Schizophrenia (genetics)
• Transcription Factor 4
• Transcription Factors (genetics, metabolism)