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
- O'Connell AE, Gerashchenko MV, O'Donohue MF, Rosen SM, Huntzinger E, Gleeson D, Galli A, Ryder E, Cao S, Murphy Q, Kazerounian S, Morton SU, Schmitz-Abe K, Gladyshev VN, Gleizes PE, Séraphin B, Agrawal PB.
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation
PLoS Genet, 15:e1007917
2019 Feb OPEN ACCESS
- Gabel M, Delavoie F, Royer C, Tahouly T, Gasman S, Bader MF, Vitale N, Chasserot-Golaz S.
Phosphorylation cycling of Annexin A2 Tyr23 is critical for calcium-regulated exocytosis in neuroendocrine cells
Biochim Biophys Acta Mol Cell Res, pii: S0167-4889(18)30542-1
- Delavoie F, Soldan V, Rinaldi D, Dauxois JY, Gleizes PE.
The path of pre-ribosomes through the nuclear pore complex revealed by electron tomography
Nature Communications, 10:497
2019 Jan OPEN ACCESS
- Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT.
The Genetic Landscape of Diamond-Blackfan Anemia
Am J Hum Genet. pii: S0002-9297(18)30403-8
2018 Nov doi: 10.1016/j.ajhg.2018.10.027
- Aubert M, O'Donohue MF, Lebaron S, Gleizes PE.
Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases
Biomolecules, 8, 123
2018 Oct OPEN ACCESS
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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