Nature Communications (Mar 2023)
Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish
- 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
Affiliations
- Gaëlle Odelin
- Aix Marseille Univ, INSERM, MMG, U1251
- Adèle Faucherre
- Institute of Functional Genomics, University of Montpellier, CNRS, INSERM
- Damien Marchese
- Animal Molecular and Cellular Biology group, Louvain Institute of Biomolecular Science and Technology, Université catholique de Louvain
- Amélie Pinard
- Aix Marseille Univ, INSERM, MMG, U1251
- Hager Jaouadi
- Aix Marseille Univ, INSERM, MMG, U1251
- Solena Le Scouarnec
- l’institut du thorax, INSERM, CNRS, UNIV Nantes
- FranceGenRef Consortium
- Raphaël Chiarelli
- Animal Molecular and Cellular Biology group, Louvain Institute of Biomolecular Science and Technology, Université catholique de Louvain
- Younes Achouri
- Transgenesis Platform, de Duve Institute, Université Catholique de Louvain
- Emilie Faure
- Aix Marseille Univ, INSERM, MMG, U1251
- Marine Herbane
- Aix Marseille Univ, INSERM, MMG, U1251
- Alexis Théron
- Aix Marseille Univ, INSERM, MMG, U1251
- Jean-François Avierinos
- Aix Marseille Univ, INSERM, MMG, U1251
- Chris Jopling
- Institute of Functional Genomics, University of Montpellier, CNRS, INSERM
- Gwenaëlle Collod-Béroud
- Aix Marseille Univ, INSERM, MMG, U1251
- René Rezsohazy
- Animal Molecular and Cellular Biology group, Louvain Institute of Biomolecular Science and Technology, Université catholique de Louvain
- Stéphane Zaffran
- Aix Marseille Univ, INSERM, MMG, U1251
- DOI
- https://doi.org/10.1038/s41467-023-37110-x
- Journal volume & issue
-
Vol. 14,
no. 1
pp. 1 – 17
Abstract
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.
