Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish
Bicuspid aortic valve (BAV) is the most common cardiac defect and although highly heritable, few causal mutations have been identified. Here, the authors identify variants in the poly-histidine repeat motif of HOXA1 and show that its disruption leads to BAV in mice.
| Main Authors: | , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2023-03-01
|
| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-023-37110-x |
| _version_ | 1797864191757910016 |
|---|---|
| author | Gaëlle Odelin Adèle Faucherre Damien Marchese Amélie Pinard Hager Jaouadi Solena Le Scouarnec FranceGenRef Consortium Raphaël Chiarelli Younes Achouri Emilie Faure Marine Herbane Alexis Théron Jean-François Avierinos Chris Jopling Gwenaëlle Collod-Béroud René Rezsohazy Stéphane Zaffran |
| author_facet | Gaëlle Odelin Adèle Faucherre Damien Marchese Amélie Pinard Hager Jaouadi Solena Le Scouarnec FranceGenRef Consortium Raphaël Chiarelli Younes Achouri Emilie Faure Marine Herbane Alexis Théron Jean-François Avierinos Chris Jopling Gwenaëlle Collod-Béroud René Rezsohazy Stéphane Zaffran |
| author_sort | Gaëlle Odelin |
| collection | DOAJ |
| description | Bicuspid aortic valve (BAV) is the most common cardiac defect and although highly heritable, few causal mutations have been identified. Here, the authors identify variants in the poly-histidine repeat motif of HOXA1 and show that its disruption leads to BAV in mice. |
| first_indexed | 2024-04-09T22:48:53Z |
| format | Article |
| id | doaj.art-f7e23b8b54634e9f9ca2535ee58a075d |
| institution | Directory Open Access Journal |
| issn | 2041-1723 |
| language | English |
| last_indexed | 2024-04-09T22:48:53Z |
| publishDate | 2023-03-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj.art-f7e23b8b54634e9f9ca2535ee58a075d2023-03-22T11:44:52ZengNature PortfolioNature Communications2041-17232023-03-0114111710.1038/s41467-023-37110-xVariations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafishGaëlle Odelin0Adèle Faucherre1Damien Marchese2Amélie Pinard3Hager Jaouadi4Solena Le Scouarnec5FranceGenRef ConsortiumRaphaël Chiarelli6Younes Achouri7Emilie Faure8Marine Herbane9Alexis Théron10Jean-François Avierinos11Chris Jopling12Gwenaëlle Collod-Béroud13René Rezsohazy14Stéphane Zaffran15Aix Marseille Univ, INSERM, MMG, U1251Institute of Functional Genomics, University of Montpellier, CNRS, INSERMAnimal Molecular and Cellular Biology group, Louvain Institute of Biomolecular Science and Technology, Université catholique de LouvainAix Marseille Univ, INSERM, MMG, U1251Aix Marseille Univ, INSERM, MMG, U1251l’institut du thorax, INSERM, CNRS, UNIV NantesAnimal Molecular and Cellular Biology group, Louvain Institute of Biomolecular Science and Technology, Université catholique de LouvainTransgenesis Platform, de Duve Institute, Université Catholique de LouvainAix Marseille Univ, INSERM, MMG, U1251Aix Marseille Univ, INSERM, MMG, U1251Aix Marseille Univ, INSERM, MMG, U1251Aix Marseille Univ, INSERM, MMG, U1251Institute of Functional Genomics, University of Montpellier, CNRS, INSERMAix Marseille Univ, INSERM, MMG, U1251Animal Molecular and Cellular Biology group, Louvain Institute of Biomolecular Science and Technology, Université catholique de LouvainAix Marseille Univ, INSERM, MMG, U1251Bicuspid aortic valve (BAV) is the most common cardiac defect and although highly heritable, few causal mutations have been identified. Here, the authors identify variants in the poly-histidine repeat motif of HOXA1 and show that its disruption leads to BAV in mice.https://doi.org/10.1038/s41467-023-37110-x |
| spellingShingle | Gaëlle Odelin Adèle Faucherre Damien Marchese Amélie Pinard Hager Jaouadi Solena Le Scouarnec FranceGenRef Consortium Raphaël Chiarelli Younes Achouri Emilie Faure Marine Herbane Alexis Théron Jean-François Avierinos Chris Jopling Gwenaëlle Collod-Béroud René Rezsohazy Stéphane Zaffran Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish Nature Communications |
| title | Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish |
| title_full | Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish |
| title_fullStr | Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish |
| title_full_unstemmed | Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish |
| title_short | Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish |
| title_sort | variations in the poly histidine repeat motif of hoxa1 contribute to bicuspid aortic valve in mouse and zebrafish |
| url | https://doi.org/10.1038/s41467-023-37110-x |
| work_keys_str_mv | AT gaelleodelin variationsinthepolyhistidinerepeatmotifofhoxa1contributetobicuspidaorticvalveinmouseandzebrafish AT adelefaucherre variationsinthepolyhistidinerepeatmotifofhoxa1contributetobicuspidaorticvalveinmouseandzebrafish AT damienmarchese variationsinthepolyhistidinerepeatmotifofhoxa1contributetobicuspidaorticvalveinmouseandzebrafish AT ameliepinard variationsinthepolyhistidinerepeatmotifofhoxa1contributetobicuspidaorticvalveinmouseandzebrafish AT hagerjaouadi variationsinthepolyhistidinerepeatmotifofhoxa1contributetobicuspidaorticvalveinmouseandzebrafish AT solenalescouarnec variationsinthepolyhistidinerepeatmotifofhoxa1contributetobicuspidaorticvalveinmouseandzebrafish AT francegenrefconsortium variationsinthepolyhistidinerepeatmotifofhoxa1contributetobicuspidaorticvalveinmouseandzebrafish AT raphaelchiarelli variationsinthepolyhistidinerepeatmotifofhoxa1contributetobicuspidaorticvalveinmouseandzebrafish AT younesachouri variationsinthepolyhistidinerepeatmotifofhoxa1contributetobicuspidaorticvalveinmouseandzebrafish AT emiliefaure variationsinthepolyhistidinerepeatmotifofhoxa1contributetobicuspidaorticvalveinmouseandzebrafish AT marineherbane variationsinthepolyhistidinerepeatmotifofhoxa1contributetobicuspidaorticvalveinmouseandzebrafish AT alexistheron variationsinthepolyhistidinerepeatmotifofhoxa1contributetobicuspidaorticvalveinmouseandzebrafish AT jeanfrancoisavierinos variationsinthepolyhistidinerepeatmotifofhoxa1contributetobicuspidaorticvalveinmouseandzebrafish AT chrisjopling variationsinthepolyhistidinerepeatmotifofhoxa1contributetobicuspidaorticvalveinmouseandzebrafish AT gwenaellecollodberoud variationsinthepolyhistidinerepeatmotifofhoxa1contributetobicuspidaorticvalveinmouseandzebrafish AT renerezsohazy variationsinthepolyhistidinerepeatmotifofhoxa1contributetobicuspidaorticvalveinmouseandzebrafish AT stephanezaffran variationsinthepolyhistidinerepeatmotifofhoxa1contributetobicuspidaorticvalveinmouseandzebrafish |