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18 results on '"Jaspard-Vinassa, Béatrice"'

8. A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codone

Author

Labrouche-Colomer, Sylvie, Soukarieh, Omar, Proust, Carole, Mouton, Christine, Huguenin, Yoann, Roux, Maguelonne, Besse, Céline, Boland, Anne, Olaso, Robert, Constans, Joël, Deleuze, Jean-François, Morange, Pierre-Emmanuel, Jaspard-Vinassa, Béatrice, Trégouët, David-Alexandre, Biologie des maladies cardiovasculaires = Biology of Cardiovascular Diseases, Université de Bordeaux (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'hématologie, Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux [Bordeaux], Génétique Evolutive Humaine - Human Evolutionary Genetics, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Centre National de Recherche en Génomique Humaine, Institut de Génomique, CEA, Evry, France, Centre d'Etude du Polymorphisme Humain (CEPH), Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Fondation Jean Dausset-Université Paris Cité (UPCité), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), This work was supported by the GENMED Laboratory of Excellence on Medical Genomics [grant number ANR-10-LABX-0013 (to O.S. and M.R.)], the «EPIDEMIOM-VTE» Senior Chair from the Initiative of Excellence of the University of Bordeaux [grant number ANR No.–10–IDEX-03-02 (to D.A.T.)], partially supported by the French Clinical Research Infrastructure Network on Venous Thrombo-Embolism (F-CRIN INNOVTE), and two research programs managed by the National Research Agency (ANR) as part of the French Investment for the Future., ANR-10-IDEX-0003,IDEX BORDEAUX,Initiative d'excellence de l'Université de Bordeaux(2010), ANR-10-LABX-0013,GENMED,Medical Genomics(2010), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Fondation Jean Dausset-Université de Paris (UP), Boullé, Christelle, Initiative d'excellence de l'Université de Bordeaux - - IDEX BORDEAUX2010 - ANR-10-IDEX-0003 - IDEX - VALID, and Medical Genomics - - GENMED2010 - ANR-10-LABX-0013 - LABX - VALID

Subjects
Male, Base Sequence, Codon, Initiator, Pedigree, Protein S, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, open reading frame, Protein S deficiency, Young Adult, genomic medicine, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, VINTAGE, Protein Biosynthesis, Humans, Female, Venos Thrombosis, mutation, 5' Untranslated Regions, HeLa Cells
Abstract

International audience; Autosomal dominant inherited Protein S deficiency (PSD) (MIM 612336) is a rare disorder caused by rare mutations, mainly located in the coding sequence of the structural PROS1 gene, and associated with an increased risk of venous thromboembolism. To identify the molecular defect underlying PSD observed in an extended French pedigree with seven PSD affected members in whom no candidate deleterious PROS1 mutation was detected by Sanger sequencing of PROS1 exons and their flanking intronic regions or via an multiplex ligation-dependent probe amplification (MLPA) approach, a whole genome sequencing strategy was adopted. This led to the identification of a never reported C to T substitution at c.-39 from the natural ATG codon of the PROS1 gene that completely segregates with PSD in the whole family. This substitution ACG→ATG creates a new start codon upstream of the main ATG. We experimentally demonstrated in HeLa cells that the variant generates a novel overlapping upstream open reading frame (uORF) and inhibits the translation of the wild-type PS. This work describes the first example of 5'UTR PROS1 mutation causing PSD through the creation of an uORF, a mutation that is not predicted to be deleterious by standard annotation softwares, and emphasizes the need for better exploration of such type of non-coding variations in clinical genomics.

Published
2020
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10. Repression ofPdzrn3is required for heart maturation and protects against heart failure

Author

Pernot, Mathieu, primary, Jaspard-vinassa, Béatrice, additional, Abelanet, Alice, additional, Rubin, Sebastien, additional, Forfar, Isabelle, additional, Jeanningros, Sylvie, additional, Cetran, Laura, additional, Yu, Murielle Han-Yee, additional, Balse, Elise, additional, Hatem, Stéphane, additional, Dufourcq, Pascale, additional, Couffinhal, Thierry, additional, and Duplàa, Cécile, additional

Published
2020
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11. Therapies targeting Frizzled‐7/β‐catenin pathway prevent the development of pathological angiogenesis in an ischemic retinopathy model

Author

Bats, Marie‐Lise, primary, Bougaran, Pauline, additional, Peghaire, Claire, additional, Gueniot, Florian, additional, Abelanet, Alice, additional, Chan, Hélène, additional, Séguy, Camille, additional, Jeanningros, Sylvie, additional, Jaspard‐Vinassa, Béatrice, additional, Couffinhal, Thierry, additional, Duplàa, Cécile, additional, and Dufourcq, Pascale, additional

Published
2019
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13. PDZRN3 destabilizes endothelial cell-cell junctions through a PKCζ-containing polarity complex to increase vascular permeability

Author

Sewduth, Raj N., primary, Kovacic, Héléna, additional, Jaspard-Vinassa, Béatrice, additional, Jecko, Vincent, additional, Wavasseur, Thomas, additional, Fritsch, Nicolas, additional, Pernot, Mathieu, additional, Jeaningros, Sylvie, additional, Roux, Etienne, additional, Dufourcq, Pascale, additional, Couffinhal, Thierry, additional, and Duplàa, Cécile, additional

Published
2017
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15. The ubiquitin ligase PDZRN3 is required for vascular morphogenesis through Wnt/planar cell polarity signalling

Author

Sewduth, Raj N., primary, Jaspard-Vinassa, Béatrice, additional, Peghaire, Claire, additional, Guillabert, Aude, additional, Franzl, Nathalie, additional, Larrieu-Lahargue, Frederic, additional, Moreau, Catherine, additional, Fruttiger, Marcus, additional, Dufourcq, Pascale, additional, Couffinhal, Thierry, additional, and Duplàa, Cécile, additional

Published
2014
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16. Gli3 Regulation of Myogenesis Is Necessary for Ischemia-Induced Angiogenesis

Author

Renault, Marie-Ange, primary, Vandierdonck, Soizic, additional, Chapouly, Candice, additional, Yu, Yang, additional, Qin, Gangjian, additional, Metras, Alexandre, additional, Couffinhal, Thierry, additional, Losordo, Douglas W., additional, Yao, Qinyu, additional, Reynaud, Annabel, additional, Jaspard-Vinassa, Béatrice, additional, Belloc, Isabelle, additional, Desgranges, Claude, additional, and Gadeau, Alain-Pierre, additional

Published
2013
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17. Desert Hedgehog Promotes Ischemia-Induced Angiogenesis by Ensuring Peripheral Nerve Survival

Author

Renault, Marie-Ange, primary, Chapouly, Candice, additional, Yao, Qinyu, additional, Larrieu-Lahargue, Frédéric, additional, Vandierdonck, Soizic, additional, Reynaud, Annabel, additional, Petit, Myriam, additional, Jaspard-Vinassa, Béatrice, additional, Belloc, Isabelle, additional, Traiffort, Elisabeth, additional, Ruat, Martial, additional, Duplàa, Cécile, additional, Couffinhal, Thierry, additional, Desgranges, Claude, additional, and Gadeau, Alain-Pierre, additional

Published
2013
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18. A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon.

Author

Labrouche-Colomer S, Soukarieh O, Proust C, Mouton C, Huguenin Y, Roux M, Besse C, Boland A, Olaso R, Constans J, Deleuze JF, Morange PE, Jaspard-Vinassa B, and Trégouët DA

Subjects
Base Sequence, Female, HeLa Cells, Humans, Male, Pedigree, Young Adult, 5' Untranslated Regions genetics, Codon, Initiator genetics, Mutation genetics, Protein Biosynthesis, Protein S genetics, Protein S Deficiency genetics
Abstract

Autosomal dominant inherited Protein S deficiency (PSD) (MIM 612336) is a rare disorder caused by rare mutations, mainly located in the coding sequence of the structural PROS1 gene, and associated with an increased risk of venous thromboembolism. To identify the molecular defect underlying PSD observed in an extended French pedigree with seven PSD affected members in whom no candidate deleterious PROS1 mutation was detected by Sanger sequencing of PROS1 exons and their flanking intronic regions or via an multiplex ligation-dependent probe amplification (MLPA) approach, a whole genome sequencing strategy was adopted. This led to the identification of a never reported C to T substitution at c.-39 from the natural ATG codon of the PROS1 gene that completely segregates with PSD in the whole family. This substitution ACG→ATG creates a new start codon upstream of the main ATG. We experimentally demonstrated in HeLa cells that the variant generates a novel overlapping upstream open reading frame (uORF) and inhibits the translation of the wild-type PS. This work describes the first example of 5'UTR PROS1 mutation causing PSD through the creation of an uORF, a mutation that is not predicted to be deleterious by standard annotation softwares, and emphasizes the need for better exploration of such type of non-coding variations in clinical genomics., (© 2020 The Author(s).)

Published
2020
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