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.
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
- Montellese C, Montel-Lehry N, Henras AK, Kutay U, Gleizes PE, O'Donohue MF.
Poly(A)-specific ribonuclease is a nuclear ribosome biogenesis factor involved in human 18S rRNA maturation
Nucleic Acids Res, 45, 6822-6836
2017 Apr OPEN ACCESS doi: 10.1093/nar/gkx253
- Paolini NA, Attwood M, Sondalle SB, Vieira CM, van Adrichem AM, di Summa FM, O'Donohue MF, Gleizes PE, Rachuri S, Briggs JW, Fischer R, Ratcliffe PJ, Wlodarski MW, Houtkooper RH, von Lindern M, Kuijpers TW, Dinman JD, Baserga SJ, Cockman ME, MacInnes AW.
A ribosomopathy reveals decoding defective ribosomes driving human dysmorphism
Am J Hum Genet, 100, 506-522
2017 Mar doi: 10.1016/j.ajhg.2017.01.034
- Larburu N, Montellese C, O'Donohue MF, Kutay U, Gleizes PE, Plisson-Chastang C.
Structure of a human pre-40S particle points to a role for RACK1 in the final steps of 18S rRNA processing
Nucleic Acids Res, 44, 8465-8478
2016 Sep OPEN ACCESS DOI: 10.1093/nar/gkw714
- Sloan KE, Gleizes PE, Bohnsack MT.
Nucleocytoplasmic transport of RNAs and RNA-protein complexes
J Mol Biol, 28, 2040-2059
2016 May OPEN ACCESS
- Bailly A, Perrin A, Bou Malhab LJ, Pion E, Larance M, Nagala M, Smith P, O'Donohue MF, Gleizes PE, Zomerdijk J, Lamond AI, Xirodimas DP.
The NEDD8 inhibitor MLN4924 increases the size of the nucleolus and activates p53 through the ribosomal-Mdm2 pathway
Oncogene, 35, 415-426
View all publications
PhDs: Jacques Rouquette, Almass-Houd Aguissa-Touré, Coralie Carron, Natacha Larburu
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