pharyngeal arch artery
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Development ◽  
2019 ◽  
Vol 146 (18) ◽  
pp. dev177618 ◽  
Author(s):  
Helen M. Phillips ◽  
Catherine A. Stothard ◽  
Wasay M. Shaikh Qureshi ◽  
Anastasia I. Kousa ◽  
J. Alberto Briones-Leon ◽  
...  

2019 ◽  
Author(s):  
Helen M. Phillips ◽  
Catherine A. Stothard ◽  
Wasay Mohiuddin Shaikh Qureshi ◽  
Anastasia I. Kousa ◽  
J. Alberto Briones-Leon ◽  
...  

AbstractDevelopmental defects affecting the heart and aortic arch arteries are a key phenotype observed in DiGeorge syndrome patients and are caused by a microdeletion on chromosome 22q11. Heterozygosity of TBX1, one of the deleted genes, is expressed throughout the pharyngeal arches and is considered a key component for the arch artery defects. Pax9 is expressed in the pharyngeal endoderm and is downregulated in Tbx1 mutant mice. We show here that Pax9 deficient mice are born with complex cardiovascular malformations affecting the outflow tract and aortic arch arteries with failure of the 3rd and 4th pharyngeal arch arteries to form correctly. Transcriptome analysis indicated that Pax9 and Tbx1 may function together, and mice double heterozygous for Tbx1/Pax9 presented with a significantly increased incidence of interrupted aortic arch when compared to Tbx1 heterozygous mice. Using a novel Pax9Cre allele we demonstrated that the site of this Tbx1-Pax9 genetic interaction is in the pharyngeal endoderm, therefore revealing that a Tbx1/Pax9-controlled signalling mechanism emanating from the pharyngeal endoderm is required for critical tissue interactions during normal morphogenesis of the pharyngeal arch artery system.Summary statementPax9 is required for outflow tract and aortic arch development, and functions together with Tbx1 in the pharyngeal endoderm for 4th arch artery formation.


Cell Reports ◽  
2017 ◽  
Vol 20 (4) ◽  
pp. 973-983 ◽  
Author(s):  
Maryline Abrial ◽  
Noëlle Paffett-Lugassy ◽  
Spencer Jeffrey ◽  
Daniel Jordan ◽  
Evan O’Loughlin ◽  
...  

2017 ◽  
Vol 143 ◽  
pp. 1-8 ◽  
Author(s):  
Marine Roux ◽  
Brigitte Laforest ◽  
Nathalie Eudes ◽  
Nicolas Bertrand ◽  
Sonia Stefanovic ◽  
...  

2016 ◽  
Vol 139 ◽  
pp. 65-73 ◽  
Author(s):  
Masahide Fujita ◽  
Masahide Sakabe ◽  
Tomoko Ioka ◽  
Yusuke Watanabe ◽  
Yumi Kinugasa-Katayama ◽  
...  

2012 ◽  
Vol 26 (2) ◽  
pp. 173-182 ◽  
Author(s):  
Simon D. Bamforth ◽  
Bill Chaudhry ◽  
Michael Bennett ◽  
Robert Wilson ◽  
Timothy J. Mohun ◽  
...  

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