Presentation
In every living organism, the production of ribosomes, the protein factories of the cell, is central to gene expression and cell metabolism. Tackling the high complexity of ribosome synthesis in human cells has been made more urgent by the recent linkage of congenital diseases and cancer predisposition to ribosome production defects. Our group focuses on the mechanisms of ribosome synthesis in human cells under several angles: pre-ribosomal RNA processing, nuclear export of pre-ribosomal particles, structure of the pre-ribosomes. This mechanistic framework allows us to characterize the functional impact of mutations affecting ribosome biogenesis in rare diseases (ribosomopathies), especially Diamond-Blackfan anemia.
Projets
Cell cycle control and ribosome synthesis
Ribosome biogenesis disorders and ribosomopathies
Visualizing the translocation of pre-ribosomal particles through the nuclear pore complex
Determination of the 3D structure of human pre-40S particles by electron microscopy
Specific mechanisms of pre-ribosomal RNA processing in human cells
Publications
- Shayan R, Rinaldi D, Larburu N, Plassart L, Balor S, Bouyssié D, Lebaron S, Marcoux J, Gleizes PE, Plisson-Chastang C.
Good Vibrations: Structural Remodeling of Maturing Yeast Pre-40S Ribosomal Particles Followed by Cryo-Electron Microscopy
Molecules, 25. pii: E1125
2020 Mar OPEN ACCESS - Benyelles M, O'Donohue MF, Kermasson L, Lainey E, Borie R, Lagresle-Peyrou C, Nunes H, Cazelles C, Fourrage C, Ollivier E, Marcais A, Gamez AS, Morice-Picard F, Caillaud D, Pottier N, Ménard C, Ba I, Fernandes A, Crestani B, de Villartay JP, Gleizes PE, Callebaut I, Kannengiesser C, Revy P.
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome
Hum Mol Genet, pii: ddaa011
2020 Jan - Lezzerini M, Penzo M, O'Donohue MF, Marques Dos Santos Vieira C, Saby M, Elfrink HL, Diets IJ, Hesse AM, Couté Y, Gastou M, Nin-Velez A, Nikkels PGJ, Olson AN, Zonneveld-Huijssoon E, Jongmans MCJ, Zhang G, van Weeghel M, Houtkooper RH, Wlodarski MW, Kuiper RP, Bierings MB, van der Werff Ten Bosch J, Leblanc T, Montanaro L, Dinman JD, Da Costa L, Gleizes PE, MacInnes AW.
Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism
Nucleic Acids Res, pii: gkz1042
2019 Dec OPEN ACCESS - Pinto R, Vågbø CB, Jakobsson ME, Kim Y, Baltissen MP, O'Donohue MF, Guzmán UH, Małecki JM, Wu J, Kirpekar F, Olsen JV, Gleizes PE, Vermeulen M, Leidel SA, Slupphaug G, Falnes PØ.
The human methyltransferase ZCCHC4 catalyses N6-methyladenosine modification of 28S ribosomal RNA
Nucleic Acids Res, pii: gkz1147
2019 Dec OPEN ACCESS - Le Caignec C, Ory B, Lamoureux F, O'Donohue MF, Orgebin E, Lindenbaum P, Téletchéa S, Saby M, Hurst A, Nelson K, Gilbert SR, Wilnai Y, Zeitlin L, Segev E, Tesfaye R, Nizon M, Cogne B, Bezieau S, Geoffroy L, Hamel A, Mayrargue E, de Courtivron B, Decock-Giraudaud A, Charrier C, Pichon O, Retière C, Redon R, Pepler A, McWalter K, Da Costa L, Toutain A, Gleizes PE, Baud'huin M, Isidor B..
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature
Am J Hum Genet, pii: S0002-9297(19)30364-7
2019 Oct
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Funding
Alumni
PhDs: Jacques Rouquette, Almass-Houd Aguissa-Touré, Coralie Carron, Natacha Larburu, Ramtin Shayan
Post-docs: Daniel Bacqueville, Milena Preti, Anirban Chakraborty
Researchers: Nicole Gas, Isabelle Léger, Jacqueline Depeyre, Guillaume Stahl
Technical staff: Valérie Choesmel-Cadamuro, Marc Delubac, Marlene Faubladier
