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Pax9 and Gbx2 Interact in the Pharyngeal Endoderm to Control Cardiovascular Development

Catherine A Stothard1, Silvia Mazzotta1, Arjun Vyas1

  • 1Newcastle University Biosciences Institute, Centre for Life, Newcastle-upon-Tyne NE1 3BZ, UK.

Journal of Cardiovascular Development and Disease
|May 30, 2020
PubMed

Insights

Pax9 and Gbx2 genes are crucial for proper aortic arch artery formation. Genetic interaction between Pax9 and Gbx2 in pharyngeal endoderm development is essential for cardiovascular development, impacting congenital heart defects.

Area of Science:

  • Developmental biology
  • Genetics
  • Cardiovascular science

Background:

  • Aortic arch artery formation relies on precise gene regulation in pharyngeal arches.
  • Gene regulatory network disruptions cause congenital heart defects, including interrupted aortic arch and double outlet right ventricle.
  • These defects are prevalent in 22q11 Deletion Syndrome (DS) patients.

Purpose of the Study:

  • To investigate the role of Gbx2 in cardiovascular development.
  • To validate Gbx2 as a potential genetic interacting partner of Pax9.
  • To understand the genetic interaction between Gbx2 and Pax9 in pharyngeal endoderm development.

Main Methods:

  • Analysis of the cardiovascular phenotype in Gbx2-null mice.
  • Investigating the expression of Gbx2 in Pax9-null embryos.
  • Demonstrating genetic interaction between Gbx2 and Pax9 in vivo.

Main Results:

  • Gbx2-null mice exhibit cardiovascular defects.
  • Gbx2 is down-regulated in the pharyngeal endoderm of Pax9-null embryos.
  • A significant genetic interaction between Gbx2 and Pax9 was identified in the pharyngeal endoderm during cardiovascular development.

Conclusions:

  • Gbx2 plays a critical role in cardiovascular development.
  • Pax9 and Gbx2 genetically interact in the pharyngeal endoderm.
  • This interaction is essential for normal aortic arch artery and outflow tract development, offering insights into congenital heart defects.

Keywords:
Gbx2Pax9Tbx1arch arteriespharyngeal endoderm

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