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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., Felker, A., Zimmerli, D., Prummel, K.D., Cabello, E.M., Chiavacci, E., Méndez-Acevedo, K.M., Kirchgeorg, L., Burger, S., Ripoll, J., Valenta, T., Hausmann, G., Vilain, N., Aguet, M., Burger, A., Panáková, D., 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 |
| ISSN: | 0890-9369 |
| Publisher: | Cold Spring Harbor Laboratory Press |
| Volume: | 32 |
| Number: | 21-22 |
| 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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