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).
Aurélie finalist of the MT180 competition
Congratulations to Aurélie Richard, a PhD student in the team, for her participation in the Sorbonne Paris Cité Alliance final of "My thesis in 180 secondes". Aurélie Richard © Youtube Université Paris Cité We’re proud of you, Aurélie!À lire...
New collaborative paper accepted in Scientific Reports for the Defossez group
Congratulations to Laure and Pierre-Antoine for their collaborative paper accepted in Scientific Reports: "Unchanged PCNA and DNMT1 dynamics during replication in DNA ligase I-deficient cells but abnormal chromatin levels of non-replicative histone H1” Bhandari SK,...
Marta Radman-Livaja seminar- March 8, 2023
Wednesday March 8th, 2023, at 11:00 am Marta Radman-Livaja IGMM, MontpellierInvited by Pierre-Antoine Defossez “The hidden lives of nuclear proteins or: how nuclear proteome dynamics influence cellular processes” The seminar will take place in the Institut Jacques...
Sagi Shapira seminar – March 1, 2023
Wednesday March 1st, 2023, at 11:00 am Sagi Shapira Systems Biology Laboratory, INEM, Université Paris CitéInvited by Jonathan Weitzman “Dissecting Viruses: From Cell Circuits to First Drafts” The seminar will take place in the Institut Jacques Monod seminar room...
Congratulations to Aris and Angélique !
The graduation of the 2021 and 2022 classes of the European Master of Genetics took place last Saturday during the G.E.N.E symposium 2023.Among the graduates, we are proud to count two members of the team: Aristeidis, PhD and Angélique, AI & Lab manager ! From...
Article : Species-specific regulation of XIST by the JPX/FTX orthologs
Congratulations to the team members for this new article about "Species-specific regulation of XIST by the JPX/FTX orthologs" published in Nucleic Acids Research (Feb 2023). Graphical abstract In contrast to the mouse, human JPX regulates XIST through mechanisms that...
Welcome to Gabrielle
Gabrielle is our new M2 student.She will work on immune-related host genes dowregulated by Theileria parasites. Welcome in the team Gabrielle ! Read more
Welcome Romina !
Romina Facchinello is joining the lab for her Master’s internship (Magistère Européen de Génétique). Welcome Romina!Read more
Brain organoids, new advances in research
"CNRS Le Journal" and "Le Monde" published a video article describing the new technical advances in the field of neurobiology, the preparation of human brain organoïds. They visited the Mezger laboratory to have a look at their experimental set up using cerebral...
Celebrating the 10 years of the Polo group
Jan 13th 2023: We had a wonderful time celebrating the 10-year anniversary of the lab, time flies! It was great to see past and current lab members together and to share warm memories. Great things can only be achieved when sourrounded by great people. Warm thanks to...
Daniele Fachinetti seminar – January 11, 2023
Wednesday January 11th, 2023, at 11:00 am Daniele Fachinetti Institut CurieInvited by Pierre-Antoine Defossez “Centromere instability: causes and consequences” The seminar will take place in the Institut Jacques Monod seminar room (RB-18B). Bâtiment Buffon, 15 rue...
Welcome to Eliane
January 3, 2023: Eliane Petit joined the group as a second year Master student to work on a proteomics project to map the chromatin landscape at sites of UV damage repair in human cells. Read more
Welcome to Sara
Sara is our new M2 student.She will work on the Methylation of ESCRT-III proteins by SMYD3 and its funtion in cell division. Welcome in the team Sara ! Read more
Congratulations to Aurélie De Thonel and the Mezger Lab for their paper in Nature Communications
Aurélie De Thonel and the V Mezger lab released a paper in Nature Communications elucidating the relationship between CBP and HSF2 in a neurodevelopmental disorder, CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder....
Claire Rougeulle receives the Janine Beisson 2022 medal
The French Society of Genetics (SFG) 2022 medal, Janine BEISSON prize, was awarded to Claire ROUGEULLE by her Professor of genetics Bernard DUJON (former president of the SFG) in the presence of the current vice-presidents of the SFG Clément Carré and Frédéric Bernard...
Team retreat on Tinos island
The team took advantage of a few days on Tinos island to present and discuss its results with the research teams of Edith Heard (EMBL) and Joost Gribnau (Erasmus MC). Nice moments of scientific exchanges between the...
Antoine Zalc seminar – November 23, 2022
Wednesday November 23th, 2022, at 11:00 am Antoine Zalc Cell fate plasticity and reprogramming, Institut Cochin, Université Paris CitéInvited by Jonathan Weitzman “Reactivation of cranial neural crest cells pluripotency programs: a crucial path in development and...
Elena Brivio seminar – November 17, 2022
Thursday November 17th, 2022, at 10:45 am Elena Brivio Weizmann Institute of Science, IsraelInvited by Valérie Mezger “Sex shapes cell-type-specific transcriptional signatures of stress exposure in the mouse hypothalamus” The seminar will take place in the Institut...
Jonathan Weitzman receives the Roy-Vaucouloux Prize
On October 18 and 22, the Académie des Sciences honoured 78 research actors for their talent and remarkable contributions to science. Jonathan Weitzman is one of them. © Académie des sciences The Academy of Sciences awards nearly 80 prizes each year, covering all...
Scientific symposium “Methylation signaling: Beyond histones and chromatin”
Protein methylation is emerging as a critical post-translational modification in signaling and cellular processes. New experimental approaches reveal that a large number of proteins are methylated and there is an emerging interest in the role of methylation of lysine...