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
- Joret C, Capeyrou R, Belhabich-Baumas K, Plisson-Chastang C, Ghandour R, Humbert O, Fribourg S, Leulliot N, Lebaron S, Henras AK, Henry Y.
The Npa1p complex chaperones the assembly of the earliest eukaryotic large ribosomal subunit precursor.
PLoS Genet. 14:e1007597
2018 Aug OPEN ACCESS. doi: 10.1371/journal.pgen.1007597
- Ulirsch, J., Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G et al..
The Genetic Landscape of Diamond-Blackfan Anemia
BioRxiv 365890; doi: https://doi.org/10.1101/365890
2018 Jul OPEN ACCESS / PREPRINT (NOT REVIEWED)
- Bennett AH, O'Donohue MF, Gundry SR, Chan AT, Widrick J, Draper I, Chakraborty A, Zhou Y, Zon LI, Gleizes PE, Beggs AH, Gupta VA.
RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes
PLoS Genet. 14(3):e1007226
2018 Mar OPEN ACCESS. doi: 10.1371/journal.pgen.1007226
- Wlodarski MW, Da Costa L, O'Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainman I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, LeBlanc T, Niemeyer C, Gleizes PE, MacInnes AW.
Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia
2018 Mar OPEN ACCESS. doi: 10.3324/haematol.2017.177980
- Chakraborty A, Uechi T, Nakajima Y, Gazda HT, O'Donohue MF, Gleizes PE, Kenmochi N.
Cross talk between TP53 and c-Myc in the pathophysiology of Diamond-Blackfan anemia: Evidence from RPL11-deficient in vivo and in vitro models
Biochem Biophys Res Commun, 495, 1839-1845
2018 Jan doi: 10.1016/j.bbrc.2017.12.019
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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