New review: Genetic diseases of epigenetic machinery
The development of sequencing technologies and their increased accessibility in clinical services and genetic laboratories have considerably accelerated the identification of genetic variants associated with rare diseases. Among these, Mendelian disorders of the epigenetic machinery (MDEM) are rare monogenic diseases characterized by the presence of mutations in genes encoding epigenetic regulators that play a key role in organismal development and cellular functions. Loss of function of these regulators is expected to lead to epigenetic modifications that profoundly affect genome expression and cellular identity. The current challenge is to determine whether and how these epigenomic alterations drive the mechanisms underlying the clinical manifestations in patients suffering from this class of diseases.
Cover photo: Causes leading to modifications in individuals’ epigenome: presence of a pathogenic variant, aging, environmental factors. From “Genetic diseases of the epigenetic machinery”, Maud de Dieuleveult, Guillaume Velasco (page 914 of this issue) (© Biorender.com).
Laetitia Aubry seminar – April 24, 2024
Wednesday, April 24, 2024, at 11:00 am. Laetitia Aubry Université d’Evry / I-StemInvited by Valérie Drouet “Harnessing pluripotent stem cells derivatives from patients with Wolfram syndrome to reveal pathological mechanisms and identify potential therapeutic chemical...
Moussa Benhamed seminar – April 17, 2024
Wednesday, April 17, 2024, at 11:00 am. Moussa Benhamed Institute of Plant Sciences, Paris SaclayInvited by Valérie Mezger “Exploring the chromatin-based regulation of enhancer-promoter contact and its impact on gene expression” The seminar will take place in the...
Professional afterwork – April 22, 2024
Do you know what else exists outside academia?Come to talk about it with our two guests on Monday, April 22, 2024, at 6.15 pm. Where? Epigenetics and Cell Fate Center (EDC)Université Paris Cité - 35 Rue Helene Brion 75013 Paris – Lamarck B building - Hall (Upper...
Manuel Muñoz seminar – March 6, 2024
Wednesday, March 6, 2024, at 11:00 am Manuel Muñoz University of Buenos Aires-CONICET, ArgentinaInvited by Sophie Polo “RNA polymerase II abundance is controlled by DNA repair” The seminar will take place in the Institut Jacques Monod seminar room (RB-18B). Buffon...
Jean-Christophe Andrau seminar – February 28, 2024
Wednesday, February 28, 2024, at 11:00 amJean-Christophe Andrau IGMM, MontpellierInvited by Pierre-Antoine Defossez “Secondary DNA structures contribute to promoter activity as nucleosome exclusion modules” The seminar will take place in the Institut Jacques Monod...
EMBO Workshop “Chromatin dynamics and nuclear organization in genome maintenance”
Sophie Polo is co-organizing the third edition of the EMBO Workshop "Chromatin dynamics and nuclear organization in genome maintenance". © https://meetings.embo.org/event/24-chromatin-dynamics The workshop will take place in Leiden, Netherlands, from June 17 to 20,...
New research article on the impact of histone oncomutations on genome maintenance
January 12th 2024: We have uncovered an altered DNA repair activity in H3.3 mutant pediatric high-grade glioma that fosters genome instability independently of previously described oncogenic pathways. Furthermore, we have identified a DNA repair enzyme that sustains...
Welcome to Emmanuelle !
Today, we welcome a new member to the team: Emmanuelle, a PhD student funded by the Ligue contre le Cancer.Emmanuelle will be working with Souhila to develop clinically applied tools based on our discovery of how methylation regulates cell division.Read more
Workshop on Epigenetics in Health
Slimane Ait-Si-Ali and Guillaume Velasco are joining forces with Frédérique Magdinier (Inserm U1251, Marseille) to organize the Inserm Workshop 278 "Epigenetics in health: a focus on rare diseases". © Ateliers Inserm - Réalisation : Audrey Peloni (DRH-SDevRH) - Crédit...
Congratulations Dr. Emmanuel Cazottes
Congratulations to Dr. Emmanuel Cazottes, who defended his PhD work on the “Evolution of X chromosome Inactivation and regulatory non-coding RNAs in primates” on December 6, 2023. © Rougeulle Team Read more
Congratulations Dr Pobega
December 7th 2023: Congratulations Enrico on a fantastic thesis defense! Enrico Pobega and Sophie Polo À lire aussi
Congratulations Dr. Aurélie Richard
Congratulations to Dr. Aurélie Richard, who spent four and a half years in the team during her second year of a master's degree and her PhD.Aurélie has worked very hard over all these years and deserves her new PhD title, earned after her thesis defense on November...
Workshop EMBO “Chromatin biology in cancer”
Pierre-Antoine Defossez is co-organizing the EMBO Workshop “Chromatin biology in cancer”. © https://meetings.embo.org/event/24-chromatin-bio The workshop will take place in Singapore, from April 23 to 26, 2024. Deadline for the registration: February 14, 2024. ...
Thomas Graf seminar – December 4, 2023
Monday, December 4, 2023, at 10:00 am Thomas Graf CRG, BarcelonaInvited by Pierre-Antoine Defossez “Mechanisms of cell fate conversions” The seminar will take place on Zoom only:https://u-paris.zoom.us/j/86114422072?pwd=VzJ0c2pxcHl4OWppekx3MldlM2Y4QT09 Contact:...
Yoichi Shinkai seminar – November 22, 2023
Wednesday, November 22, 2023, at 11:00 am Yoichi Shinkai RIKEN Saitama, JapanInvited by Pierre-Antoine Defossez “Lysine methyltransferase EHMT1/GLP (Ehmt1) heterozygous KO mice as a Kleefstra syndrome model: challenging the onset mechanism and developing therapeutic...
We celebrated Science in October
Every October, we celebrate science through the "Fête de la Science", a popular public event that celebrates science, technology and innovation. It is open to all and helps promote the sharing of knowledge. This year, our Centre was involved in two visits. Our...
Jacques Côté seminar – October 17, 2023
Tuesday, October 17th, 2023, at 11:00 am Jacques Côté CHU de Québec/Université Laval, CanadaInvited by Sophie Polo and Claire Rougeulle “MYST-family chromatin modifying complexes in genome expression/stability and disease” The seminar will take place in the Institut...
Welcome to the team !
Today we are welcoming three new members in the team. From left to right : Camille (PhD student), Marisol (PhD student) and Julia (engineer). Camille will work on the SMYD project while Marisol and Julia will work on the host-parasite interactions project. Read more
Welcoming Dr Yoichi Shinkai for 3 months
Pierre-Antoine Defossez extended an invitation to Dr Yoichi Shinkai, leader of the “Cellular Memory Laboratory” at the RIKEN Institute and associate professor at Saitama University, Japan. Thanks to Université Paris Cité and the Labex Who Am I? support, we welcome him...
New pre-print about ZBTB24
Congratulations on the new work "ZBTB24 is a conserved multifaceted transcription factor at genes and centromeres that governs the DNA methylation state and expression of satellite repeats" by Grillo et al. shared on bioRxiv. Read here:...