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
- Lebaron S, O'Donohue MF, Smith SC, Engleman KL, Juusola J, Safina NP, Thiffault I, Saunders CJ, Gleizes PE.
Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype
Human Mutation, 43, 389-402
2022 Mar - O'Donohue MF, Da Costa LM, Lezzerini M, Unal S, Joret C, Bartels M, Brilstra E, Scheijde-Vermeulen M, Wacheul L, De Keersmaecker K, Vereecke S, Labarque V, Saby MJ, LeFevre SD, Platon J, Montel-Lehry N, Laugero N, Lacazette E, van Gassen K, Houtkooper RH, Simsek-Kiper PO, Leblanc TM, Yarali N, Cetinkaya A, Akarsu NA, Gleizes PE, Lafontaine DLJ, MacInnes AW.
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia
Blood, doi: 10.1182/blood.2021011846.
2022 Feb OPEN ACCESS - Plassart L, Shayan R, Montellese C, Rinaldi D, Larburu N, Pichereaux C, Lebaron S, O’Donohue M-F, Kutay U, Marcoux J, Gleizes P-E, Plisson-Chastang C.
The final step of 40S ribosomal subunit maturation is controlled by a dual key lock
Elife, 10:e61254
2021 Apr OPEN ACCESS. doi: 10.7554/eLife.61254. - Małecki JM, Odonohue MF, Kim Y, Jakobsson ME, Gessa L, Pinto R, Wu J, Davydova E, Moen A, Olsen JV, Thiede B, Gleizes PE, Leidel SA, Falnes PØ.
Human METTL18 is a histidine-specific methyltransferase that targets RPL3 and affects ribosome biogenesis and function
Nucleic Acids Res, 49, 3185-3203
2021 Apr OPEN ACCESS - Le Goff S, Boussaid I, Floquet C, Raimbault A, Hatin I, Andrieu-Soler C, Salma M, Leduc M, Gautier EF, Guyot B, d'Allard D, Montel-Lehry N, Ducamp S, Houvert A, Guillonneau F, Giraudier S, Cramer-Bordé E, Morlé F, Diaz JJ, Hermine O, Taylor N, Kinet S, Verdier F, Padua RA, Mohandas N, Gleizes PE, Soler E, Mayeux P, Fontenay M.
p53 activation during ribosome biogenesis regulates normal erythroid differentiation
Blood, 137:89-102
2021 Jan
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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
