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Your search keyword '"Lefèvre, P."' showing total 17 results
Start Over Author "Lefèvre, P." Journal nature communications
17 results on '"Lefèvre, P."'

1. Accelerated DNA replication fork speed due to loss of R-loops in myelodysplastic syndromes with SF3B1 mutation

Author

Rombaut, David, Lefèvre, Carine, Rached, Tony, Bondu, Sabrina, Letessier, Anne, Mangione, Raphael M., Farhat, Batoul, Lesieur-Pasquier, Auriane, Castillo-Guzman, Daisy, Boussaid, Ismael, Friedrich, Chloé, Tourville, Aurore, De Carvalho, Magali, Levavasseur, Françoise, Leduc, Marjorie, Le Gall, Morgane, Battault, Sarah, Temple, Marie, Houy, Alexandre, Bouscary, Didier, Willems, Lise, Park, Sophie, Raynaud, Sophie, Cluzeau, Thomas, Clappier, Emmanuelle, Fenaux, Pierre, Adès, Lionel, Margueron, Raphael, Wassef, Michel, Alsafadi, Samar, Chapuis, Nicolas, Kosmider, Olivier, Solary, Eric, Constantinou, Angelos, Stern, Marc-Henri, Droin, Nathalie, Palancade, Benoit, Miotto, Benoit, Chédin, Frédéric, and Fontenay, Michaela

Published
2024
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2. Accelerated DNA replication fork speed due to loss of R-loops in myelodysplastic syndromes with SF3B1 mutation

Author

David Rombaut, Carine Lefèvre, Tony Rached, Sabrina Bondu, Anne Letessier, Raphael M. Mangione, Batoul Farhat, Auriane Lesieur-Pasquier, Daisy Castillo-Guzman, Ismael Boussaid, Chloé Friedrich, Aurore Tourville, Magali De Carvalho, Françoise Levavasseur, Marjorie Leduc, Morgane Le Gall, Sarah Battault, Marie Temple, Alexandre Houy, Didier Bouscary, Lise Willems, Sophie Park, Sophie Raynaud, Thomas Cluzeau, Emmanuelle Clappier, Pierre Fenaux, Lionel Adès, Raphael Margueron, Michel Wassef, Samar Alsafadi, Nicolas Chapuis, Olivier Kosmider, Eric Solary, Angelos Constantinou, Marc-Henri Stern, Nathalie Droin, Benoit Palancade, Benoit Miotto, Frédéric Chédin, and Michaela Fontenay

Subjects
Science
Abstract

Abstract Myelodysplastic syndromes (MDS) with mutated SF3B1 gene present features including a favourable outcome distinct from MDS with mutations in other splicing factor genes SRSF2 or U2AF1. Molecular bases of these divergences are poorly understood. Here we find that SF3B1-mutated MDS show reduced R-loop formation predominating in gene bodies associated with intron retention reduction, not found in U2AF1- or SRSF2-mutated MDS. Compared to erythroblasts from SRSF2- or U2AF1-mutated patients, SF3B1-mutated erythroblasts exhibit augmented DNA synthesis, accelerated replication forks, and single-stranded DNA exposure upon differentiation. Importantly, histone deacetylase inhibition using vorinostat restores R-loop formation, slows down DNA replication forks and improves SF3B1-mutated erythroblast differentiation. In conclusion, loss of R-loops with associated DNA replication stress represents a hallmark of SF3B1-mutated MDS ineffective erythropoiesis, which could be used as a therapeutic target.

Published
2024
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3. The bacterial replication origin BUS promotes nucleobase capture

Author

Simone Pelliciari, Salomé Bodet-Lefèvre, Stepan Fenyk, Daniel Stevens, Charles Winterhalter, Frederic D. Schramm, Sara Pintar, Daniel R. Burnham, George Merces, Tomas T. Richardson, Yumiko Tashiro, Julia Hubbard, Hasan Yardimci, Aravindan Ilangovan, and Heath Murray

Subjects
Science
Abstract

Abstract Genome duplication is essential for the proliferation of cellular life and this process is generally initiated by dedicated replication proteins at chromosome origins. In bacteria, DNA replication is initiated by the ubiquitous DnaA protein, which assembles into an oligomeric complex at the chromosome origin (oriC) that engages both double-stranded DNA (dsDNA) and single-stranded DNA (ssDNA) to promote DNA duplex opening. However, the mechanism of DnaA specifically opening a replication origin was unknown. Here we show that Bacillus subtilis DnaAATP assembles into a continuous oligomer at the site of DNA melting, extending from a dsDNA anchor to engage a single DNA strand. Within this complex, two nucleobases of each ssDNA binding motif (DnaA-trio) are captured within a dinucleotide binding pocket created by adjacent DnaA proteins. These results provide a molecular basis for DnaA specifically engaging the conserved sequence elements within the bacterial chromosome origin basal unwinding system (BUS).

Published
2023
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6. Author Correction: The evolution and international spread of extensively drug resistant Shigella sonnei

Author

Mason, Lewis C. E., Greig, David R., Cowley, Lauren A., Partridge, Sally R., Martinez, Elena, Blackwell, Grace A., Chong, Charlotte E., De Silva, P. Malaka, Bengtsson, Rebecca J., Draper, Jenny L., Ginn, Andrew N., Sandaradura, Indy, Sim, Eby M., Iredell, Jonathan R., Sintchenko, Vitali, Ingle, Danielle J., Howden, Benjamin P., Lefèvre, Sophie, Njamkepo, Elisabeth, Weill, François-Xavier, Ceyssens, Pieter-Jan, Jenkins, Claire, and Baker, Kate S.

Published
2023
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7. The evolution and international spread of extensively drug resistant Shigella sonnei

Author

Mason, Lewis C. E., Greig, David R., Cowley, Lauren A., Partridge, Sally R., Martinez, Elena, Blackwell, Grace A., Chong, Charlotte E., De Silva, P. Malaka, Bengtsson, Rebecca J., Draper, Jenny L., Ginn, Andrew N., Sandaradura, Indy, Sim, Eby M., Iredell, Jonathan R., Sintchenko, Vitali, Ingle, Danielle J., Howden, Benjamin P., Lefèvre, Sophie, Njamkepo, Elisabeth, Weill, François-Xavier, Ceyssens, Pieter-Jan, Jenkins, Claire, and Baker, Kate S.

Published
2023
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8. The evolution and international spread of extensively drug resistant Shigella sonnei

Author

Lewis C. E. Mason, David R. Greig, Lauren A. Cowley, Sally R. Partridge, Elena Martinez, Grace A. Blackwell, Charlotte E. Chong, P. Malaka De Silva, Rebecca J. Bengtsson, Jenny L. Draper, Andrew N. Ginn, Indy Sandaradura, Eby M. Sim, Jonathan R. Iredell, Vitali Sintchenko, Danielle J. Ingle, Benjamin P. Howden, Sophie Lefèvre, Elisabeth Njamkepo, François-Xavier Weill, Pieter-Jan Ceyssens, Claire Jenkins, and Kate S. Baker

Subjects
Science
Abstract

Abstract Shigella sonnei causes shigellosis, a severe gastrointestinal illness that is sexually transmissible among men who have sex with men (MSM). Multidrug resistance in S. sonnei is common including against World Health Organisation recommended treatment options, azithromycin, and ciprofloxacin. Recently, an MSM-associated outbreak of extended-spectrum β-lactamase producing, extensively drug resistant S. sonnei was reported in the United Kingdom. Here, we aimed to identify the genetic basis, evolutionary history, and international dissemination of the outbreak strain. Our genomic epidemiological analyses of 3,304 isolates from the United Kingdom, Australia, Belgium, France, and the United States of America revealed an internationally connected outbreak with a most recent common ancestor in 2018 carrying a low-fitness cost resistance plasmid, previously observed in travel associated sublineages of S. flexneri. Our results highlight the persistent threat of horizontally transmitted antimicrobial resistance and the value of continuing to work towards early and open international sharing of genomic surveillance data.

Published
2023
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9. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Author

Hengel, Holger, Bosso-Lefèvre, Célia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Élise, Tan, Thong-Teck, Eio, Michelle Y, Narayanan, Gunaseelan, Utami, Kagistia Hana, Yau, Monica, Handal, Nader, Deigendesch, Werner, Keimer, Reinhard, Marzouqa, Hiyam M, Gunay-Aygun, Meral, Muriello, Michael J, Verhelst, Helene, Weckhuysen, Sarah, Mahida, Sonal, Naidu, Sakkubai, Thomas, Terrence G, Lim, Jiin Ying, Tan, Ee Shien, Haye, Damien, Willemsen, Michèl AAP, Oegema, Renske, Mitchell, Wendy G, Pierson, Tyler Mark, Andrews, Marisa V, Willing, Marcia C, Rodan, Lance H, Barakat, Tahsin Stefan, van Slegtenhorst, Marjon, Gavrilova, Ralitza H, Martinelli, Diego, Gilboa, Tal, Tamim, Abdullah M, Hashem, Mais O, AlSayed, Moeenaldeen D, Abdulrahim, Maha M, Al-Owain, Mohammed, Awaji, Ali, Mahmoud, Adel AH, Faqeih, Eissa A, Asmari, Ali Al, Algain, Sulwan M, Jad, Lamyaa A, Aldhalaan, Hesham M, Helbig, Ingo, Koolen, David A, Riess, Angelika, Kraegeloh-Mann, Ingeborg, Bauer, Peter, Gulsuner, Suleyman, Stamberger, Hannah, Ng, Alvin Yu Jin, Tang, Sha, Tohari, Sumanty, Keren, Boris, Schultz-Rogers, Laura E, Klee, Eric W, Barresi, Sabina, Tartaglia, Marco, Mor-Shaked, Hagar, Maddirevula, Sateesh, Begtrup, Amber, Telegrafi, Aida, Pfundt, Rolph, Schüle, Rebecca, Ciruna, Brian, Bonnard, Carine, Pouladi, Mahmoud A, Stewart, James C, Claridge-Chang, Adam, Lefeber, Dirk J, Alkuraya, Fowzan S, Mathuru, Ajay S, Venkatesh, Byrappa, Barycki, Joseph J, Simpson, Melanie A, Jamuar, Saumya S, Schöls, Ludger, and Reversade, Bruno

Subjects
Organoids, Animals, Zebrafish, Humans, Epilepsy, Syndrome, Oxidoreductases, Pedigree, Kinetics, Genes, Recessive, Alleles, Adolescent, Child, Child, Preschool, Infant, Female, Male, Protein Domains, Loss of Function Mutation, Preschool, Genes, Recessive
Abstract

Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGDH in 36 cases from 25 families presenting with epileptic encephalopathy with developmental delay and hypotonia. UGDH encodes an oxidoreductase that converts UDP-glucose to UDP-glucuronic acid, a key component of specific proteoglycans and glycolipids. Consistent with being loss-of-function alleles, we show using patients' primary fibroblasts and biochemical assays, that these mutations either impair UGDH stability, oligomerization, or enzymatic activity. In vitro, patient-derived cerebral organoids are smaller with a reduced number of proliferating neuronal progenitors while mutant ugdh zebrafish do not phenocopy the human disease. Our study defines UGDH as a key player for the production of extracellular matrix components that are essential for human brain development. Based on the incidence of variants observed, UGDH mutations are likely to be a frequent cause of recessive epileptic encephalopathy.

Published
2020

10. Rapid emergence of extensively drug-resistant Shigella sonnei in France

Author

Sophie Lefèvre, Elisabeth Njamkepo, Sarah Feldman, Corinne Ruckly, Isabelle Carle, Monique Lejay-Collin, Laëtitia Fabre, Iman Yassine, Lise Frézal, Maria Pardos de la Gandara, Arnaud Fontanet, and François-Xavier Weill

Subjects
Science
Abstract

There have been increasing reports of extensively drug-resistant (XDR) Shigella sonnei infections in recent years. In this laboratory surveillance study from France, the authors document the rise of XDR isolates from 2005 to 2021 and perform whole genome sequencing to investigate their genomic diversity and evolutionary history.

Published
2023
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12. Population structure analysis and laboratory monitoring of Shigella by core-genome multilocus sequence typing

Author

Iman Yassine, Sophie Lefèvre, Elisabeth E. Hansen, Corinne Ruckly, Isabelle Carle, Monique Lejay-Collin, Laëtitia Fabre, Rayane Rafei, Dominique Clermont, Maria Pardos de la Gandara, Fouad Dabboussi, Nicholas R. Thomson, and François-Xavier Weill

Subjects
Science
Abstract

Lab-based surveillance of Shigella has traditionally been based on serotyping but increasing availability of whole genome sequencing could enable higher resolution typing. Here, the authors apply a core genome multilocus sequence typing scheme to Shigella sequence data and describe its population structure.

Published
2022
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13. Predicting the public health impact of a malaria transmission-blocking vaccine

Author

Joseph D. Challenger, Daniela Olivera Mesa, Dari F. Da, R. Serge Yerbanga, Thierry Lefèvre, Anna Cohuet, and Thomas S. Churcher

Subjects
Science
Abstract

Malaria transmission-blocking vaccines are in development, but roll-out strategies have not been assessed. Here, the authors show that transmission-blocking activity is likely to be higher in the field than in laboratory conditions, and that school-aged children are an important group to target.

Published
2021
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14. Author Correction: The evolution and international spread of extensively drug resistant Shigella sonnei

Author

Lewis C. E. Mason, David R. Greig, Lauren A. Cowley, Sally R. Partridge, Elena Martinez, Grace A. Blackwell, Charlotte E. Chong, P. Malaka De Silva, Rebecca J. Bengtsson, Jenny L. Draper, Andrew N. Ginn, Indy Sandaradura, Eby M. Sim, Jonathan R. Iredell, Vitali Sintchenko, Danielle J. Ingle, Benjamin P. Howden, Sophie Lefèvre, Elisabeth Njamkepo, François-Xavier Weill, Pieter-Jan Ceyssens, Claire Jenkins, and Kate S. Baker

Subjects
Science
Published
2023
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15. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Author

Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y. Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, Meral Gunay-Aygun, Michael J. Muriello, Helene Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence G. Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A. A. P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia C. Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah M. Tamim, Mais O. Hashem, Moeenaldeen D. AlSayed, Maha M. Abdulrahim, Mohammed Al-Owain, Ali Awaji, Adel A. H. Mahmoud, Eissa A. Faqeih, Ali Al Asmari, Sulwan M. Algain, Lamyaa A. Jad, Hesham M. Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Riess, Ingeborg Kraegeloh-Mann, Peter Bauer, Suleyman Gulsuner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura E. Schultz-Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor-Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James C. Stewart, Adam Claridge-Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls, and Bruno Reversade

Subjects
Science
Abstract

UDP-glucuronic acid is a component of the extracellular matrix. Here, the authors report biallelic variants in the gene encoding UDP-Glucose 6-Dehydrogenase (UGDH) in individuals affected by developmental epileptic encephalopathies that impair UGDH stability, oligomerization, or enzymatic activity in vitro.

Published
2020
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17. Horizontal antimicrobial resistance transfer drives epidemics of multiple Shigella species

Author

Kate S. Baker, Timothy J. Dallman, Nigel Field, Tristan Childs, Holly Mitchell, Martin Day, François-Xavier Weill, Sophie Lefèvre, Mathieu Tourdjman, Gwenda Hughes, Claire Jenkins, and Nicholas Thomson

Subjects
Science
Abstract

Antimicrobial resistance (AMR) in Shigella species is a public health concern. Here, Baker et al. show how horizontal transfer of an AMR plasmid among Shigella species contributes to epidemics in men who have sex with men in England.

Published
2018
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