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Mutations in Bcl9 and Pygo genes cause congenital heart defects by tissue-specific perturbation of Wnt/β-catenin signaling

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Item Type:Article
Title:Mutations in Bcl9 and Pygo genes cause congenital heart defects by tissue-specific perturbation of Wnt/β-catenin signaling
Creators Name:Cantù, C. and Felker, A. and Zimmerli, D. and Prummel, K.D. and Cabello, E.M. and Chiavacci, E. and Méndez-Acevedo, K.M. and Kirchgeorg, L. and Burger, S. and Ripoll, J. and Valenta, T. and Hausmann, G. and Vilain, N. and Aguet, M. and Burger, A. and Panáková, D. and Basler, K. and Mosimann, C.
Abstract:Bcl9 and Pygopus (Pygo) are obligate Wnt/β-catenin cofactors in Drosophila, yet their contribution to Wnt signaling during vertebrate development remains unresolved. Combining zebrafish and mouse genetics, we document a conserved, β-catenin-associated function for BCL9 and Pygo proteins during vertebrate heart development. Disrupting the β-catenin–BCL9–Pygo complex results in a broadly maintained canonical Wnt response yet perturbs heart development and proper expression of key cardiac regulators. Our work highlights BCL9 and Pygo as selective β-catenin cofactors in a subset of canonical Wnt responses during vertebrate development. Moreover, our results implicate alterations in BCL9 and BCL9L in human congenital heart defects.
Keywords:CRISPR-Cas9, Cardiovascular Development, Congenital Heart Disease, Heart, Transcription, Wnt Signaling, Animals, Mice, Zebrafish
Source:Genes & Development
Publisher:Cold Spring Harbor Laboratory Press
Page Range:1443-1458
Date:1 November 2018
Additional Information:Copyright © 2018, Cantù et al. This article is distributed exclusively by Cold Spring Harbor Laboratory Press for the first six months after the full-issue publication date (see http://genesdev.cshlp.org/site/misc/terms.xhtml). After six months, it is available under a Creative Commons Attribution-NonCommercial 4.0 International licence.
Official Publication:https://doi.org/10.1101/gad.315531.118
PubMed:View item in PubMed

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