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Lookup NU author(s): Catherine Stothard, Dr Silvia Mazzotta, Professor Deborah HendersonORCiD, Dr Helen PhillipsORCiD, Dr Simon BamforthORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
The correct formation of the aortic arch arteries depends on a coordinated and regulated gene expression profile within the tissues of the pharyngeal arches. Perturbation of the gene regulatory networks in these tissues results in congenital heart defects affecting the arch arteries and the outflow tract of the heart. Aberrant development of these structures leads to interruption of the aortic arch and double outlet right ventricle, abnormalities that are a leading cause of morbidity in 22q11 Deletion Syndrome (DS) patients. We have recently shown that Pax9 functionally interacts with the 22q11DS gene Tbx1 in the pharyngeal endoderm for 4th pharyngeal arch artery morphogenesis, with double heterozygous mice dying at birth with interrupted aortic arch. Mice lacking Pax9 die perinatally with complex cardiovascular defects and in this study we sought to validate further potential genetic interacting partners of Pax9, focussing on Gbx2 which is down-regulated in the pharyngeal endoderm of Pax9-null embryos. Here, we describe the Gbx2-null cardiovascular phenotype and demonstrate a genetic interaction between Gbx2 and Pax9 in the pharyngeal endoderm during cardiovascular development.
Author(s): Stothard CA, Mazzotta S, Vyas A, Schneider JE, Mohun TJ, Henderson DJ, Phillips HM, Bamforth SD
Publication type: Article
Publication status: Published
Journal: Journal of Cardiovascular Development and Disease
Year: 2020
Volume: 7
Issue: 2
Print publication date: 25/05/2020
Online publication date: 25/05/2020
Acceptance date: 19/05/2020
Date deposited: 08/06/2020
ISSN (electronic): 2308-3425
Publisher: MDPI AG
URL: https://doi.org/10.3390/jcdd7020020
DOI: 10.3390/jcdd7020020
PubMed id: 32466118
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