<i>Pax9</i> and <i>Gbx2</i> Interact in the Pharyngeal Endoderm to Control Cardiovascular Development
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...
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-05-01
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| Series: | Journal of Cardiovascular Development and Disease |
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| Online Access: | https://www.mdpi.com/2308-3425/7/2/20 |
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| author | Catherine A. Stothard Silvia Mazzotta Arjun Vyas Jurgen E. Schneider Timothy J. Mohun Deborah J. Henderson Helen M. Phillips Simon D. Bamforth |
| author_facet | Catherine A. Stothard Silvia Mazzotta Arjun Vyas Jurgen E. Schneider Timothy J. Mohun Deborah J. Henderson Helen M. Phillips Simon D. Bamforth |
| author_sort | Catherine A. Stothard |
| collection | DOAJ |
| description | 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 <i>Pax9</i> functionally interacts with the 22q11DS gene <i>Tbx1</i> in the pharyngeal endoderm for 4th pharyngeal arch artery morphogenesis, with double heterozygous mice dying at birth with interrupted aortic arch. Mice lacking <i>Pax9</i> die perinatally with complex cardiovascular defects and in this study we sought to validate further potential genetic interacting partners of <i>Pax9</i>, focussing on <i>Gbx2</i> which is down-regulated in the pharyngeal endoderm of <i>Pax9</i>-null embryos. Here, we describe the <i>Gbx2-</i>null cardiovascular phenotype and demonstrate a genetic interaction between <i>Gbx2</i> and <i>Pax9</i> in the pharyngeal endoderm during cardiovascular development. |
| first_indexed | 2024-03-10T19:36:20Z |
| format | Article |
| id | doaj.art-1d938e6cfc7d4163abd8fc99ebde10dd |
| institution | Directory Open Access Journal |
| issn | 2308-3425 |
| language | English |
| last_indexed | 2024-03-10T19:36:20Z |
| publishDate | 2020-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Cardiovascular Development and Disease |
| spelling | doaj.art-1d938e6cfc7d4163abd8fc99ebde10dd2023-11-20T01:36:37ZengMDPI AGJournal of Cardiovascular Development and Disease2308-34252020-05-01722010.3390/jcdd7020020<i>Pax9</i> and <i>Gbx2</i> Interact in the Pharyngeal Endoderm to Control Cardiovascular DevelopmentCatherine A. Stothard0Silvia Mazzotta1Arjun Vyas2Jurgen E. Schneider3Timothy J. Mohun4Deborah J. Henderson5Helen M. Phillips6Simon D. Bamforth7Newcastle University Biosciences Institute, Centre for Life, Newcastle-upon-Tyne NE1 3BZ, UKNewcastle University Biosciences Institute, Centre for Life, Newcastle-upon-Tyne NE1 3BZ, UKNewcastle University Biosciences Institute, Centre for Life, Newcastle-upon-Tyne NE1 3BZ, UKBiomedical Imaging, University of Leeds, Leeds LS2 9JT, UKThe Francis Crick Institute, London NW1 1AT, UKNewcastle University Biosciences Institute, Centre for Life, Newcastle-upon-Tyne NE1 3BZ, UKNewcastle University Biosciences Institute, Centre for Life, Newcastle-upon-Tyne NE1 3BZ, UKNewcastle University Biosciences Institute, Centre for Life, Newcastle-upon-Tyne NE1 3BZ, UKThe 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 <i>Pax9</i> functionally interacts with the 22q11DS gene <i>Tbx1</i> in the pharyngeal endoderm for 4th pharyngeal arch artery morphogenesis, with double heterozygous mice dying at birth with interrupted aortic arch. Mice lacking <i>Pax9</i> die perinatally with complex cardiovascular defects and in this study we sought to validate further potential genetic interacting partners of <i>Pax9</i>, focussing on <i>Gbx2</i> which is down-regulated in the pharyngeal endoderm of <i>Pax9</i>-null embryos. Here, we describe the <i>Gbx2-</i>null cardiovascular phenotype and demonstrate a genetic interaction between <i>Gbx2</i> and <i>Pax9</i> in the pharyngeal endoderm during cardiovascular development.https://www.mdpi.com/2308-3425/7/2/20<i>Pax9</i><i>Gbx2</i><i>Tbx1</i>pharyngeal endodermarch arteries |
| spellingShingle | Catherine A. Stothard Silvia Mazzotta Arjun Vyas Jurgen E. Schneider Timothy J. Mohun Deborah J. Henderson Helen M. Phillips Simon D. Bamforth <i>Pax9</i> and <i>Gbx2</i> Interact in the Pharyngeal Endoderm to Control Cardiovascular Development Journal of Cardiovascular Development and Disease <i>Pax9</i> <i>Gbx2</i> <i>Tbx1</i> pharyngeal endoderm arch arteries |
| title | <i>Pax9</i> and <i>Gbx2</i> Interact in the Pharyngeal Endoderm to Control Cardiovascular Development |
| title_full | <i>Pax9</i> and <i>Gbx2</i> Interact in the Pharyngeal Endoderm to Control Cardiovascular Development |
| title_fullStr | <i>Pax9</i> and <i>Gbx2</i> Interact in the Pharyngeal Endoderm to Control Cardiovascular Development |
| title_full_unstemmed | <i>Pax9</i> and <i>Gbx2</i> Interact in the Pharyngeal Endoderm to Control Cardiovascular Development |
| title_short | <i>Pax9</i> and <i>Gbx2</i> Interact in the Pharyngeal Endoderm to Control Cardiovascular Development |
| title_sort | i pax9 i and i gbx2 i interact in the pharyngeal endoderm to control cardiovascular development |
| topic | <i>Pax9</i> <i>Gbx2</i> <i>Tbx1</i> pharyngeal endoderm arch arteries |
| url | https://www.mdpi.com/2308-3425/7/2/20 |
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