Pax9 and Gbx2 Interact in the Pharyngeal Endoderm to Control Cardiovascular Development
| Autor: | Catherine A. Stothard, Deborah J. Henderson, Jürgen E. Schneider, Silvia Mazzotta, Helen M. Phillips, Simon D. Bamforth, Arjun Vyas, Timothy J. Mohun |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
TBX1 Aortic arch lcsh:Diseases of the circulatory (Cardiovascular) system Pathology medicine.medical_specialty arch arteries Pharyngeal arch artery morphogenesis Gbx2 Article 03 medical and health sciences Double outlet right ventricle medicine.artery Medicine Pharmacology (medical) General Pharmacology Toxicology and Pharmaceutics GBX2 030102 biochemistry & molecular biology business.industry Interrupted aortic arch Tbx1 medicine.disease Pax9 stomatognathic diseases 030104 developmental biology medicine.anatomical_structure lcsh:RC666-701 pharyngeal endoderm Endoderm business PAX9 |
| Zdroj: | Journal of Cardiovascular Development and Disease Volume 7 Issue 2 Journal of Cardiovascular Development and Disease, Vol 7, Iss 20, p 20 (2020) |
| ISSN: | 2308-3425 |
| DOI: | 10.3390/jcdd7020020 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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