The DOI matches its Crossref record; 37 of the 37 references it cites were found in a registry or an index.
Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome
Open accessAbstract
Removal of the assembly factor eukaryotic initiation factor 6 (eIF6) is critical for late cytoplasmic maturation of 60S ribosomal subunits. In mammalian cells, the current model posits that eIF6 release is triggered following phosphorylation of Ser 235 by activated protein kinase C. In contrast, genetic studies in yeast indicate a requirement for the ortholog of the SBDS (Shwachman-Bodian-Diamond syndrome) gene that is mutated in the inherited leukemia predisposition disorder Shwachman-Diamond syndrome (SDS). Here, by isolating late cytoplasmic 60S ribosomal subunits from Sbds -deleted mice, we show that SBDS and the GTPase elongation factor-like 1 (EFL1) directly catalyze eIF6 removal in mammalian cells by a mechanism that requires GTP binding and hydrolysis by EFL1 but not phosphorylation of eIF6 Ser 235. Functional analysis of disease-associated missense variants reveals that the essential role of SBDS is to tightly couple GTP hydrolysis by EFL1 on the ribosome to eIF6 release. Furthermore, complementary NMR spectroscopic studies suggest unanticipated mechanistic parallels between this late step in 60S maturation and aspects of bacterial ribosome disassembly. Our findings establish a direct role for SBDS and EFL1 in catalyzing the translational activation of ribosomes in all eukaryotes, and define SDS as a ribosomopathy caused by uncoupling GTP hydrolysis from eIF6 release.
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Cites
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Mutations in SBDS are associated with Shwachman–Diamond syndrome
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Self-citationRelease of eIF6 (p27BBP) from the 60S subunit allows 80S ribosome assembly
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The Mechanism for Activation of GTP Hydrolysis on the Ribosome
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Cited by
Ribosome Biogenesis in the Yeast Saccharomyces cerevisiae
Woolford, J. L., & Baserga, S. J. (2013) · Genetics · doi:10.1534/genetics.113.153197 · Cited by 757
Translational Control in Cancer Etiology
Ruggero, D. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a012336 · Cited by 367
Zambetti, N. A., Ping, Z., Chen, S., Kenswil, K. J. G., Mylona, M. A., Sanders, M. A., Hoogenboezem, R. M., Bindels, E. M. J., Adisty, M. N., Van Strien, P. M. H., et al. (2016) · Cell stem cell · doi:10.1016/j.stem.2016.08.021 · Cited by 342
Eukaryotic ribosome biogenesis at a glance
Thomson, E., Ferreira-Cerca, S., & Hurt, E. (2013) · Journal of Cell Science · doi:10.1242/jcs.111948 · Cited by 324
On-chip recapitulation of clinical bone marrow toxicities and patient-specific pathophysiology
Chou, D. B., Frismantas, V., Milton, Y., David, R., Pop-Damkov, P., Ferguson, D., MacDonald, A., Vargel Bölükbaşı, Ö., Joyce, C. E., Moreira Teixeira, L. S., et al. (2020) · Nature Biomedical Engineering · doi:10.1038/s41551-019-0495-z · Cited by 294
Metadata
- Authors
- Finch, A. J., Hilcenko, C., Basse, N., Drynan, L. F., Goyenechea, B., Menne, T. F., González Fernández, Á., Simpson, P., D'Santos, C. S., Arends, M. J., Donadieu, J., Bellanné-Chantelot, C., Costanzo, M., Boone, C., McKenzie, A. N., Freund, S. M. V., & Warren, A. J.
- Venue
- Genes & Development
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2011-05-01
- Volume
- 25
- Issue
- 9
- Pages
- 917-929
- ISSN
- 0890-9369 (ISSN-L)
- 1549-5477
- OpenAlex
- W2106627064
- Cited by
- 295
- References
- 37
- Type
- posted content
- Language
- en
- Open access
- diamond
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- Finch, A. J., Hilcenko, C., Basse, N., Drynan, L. F., Goyenechea, B., Menne, T. F., González Fernández, Á., Simpson, P., D'Santos, C. S., Arends, M. J., Donadieu, J., Bellanné-Chantelot, C., Costanzo, M., Boone, C., McKenzie, A. N., Freund, S. M. V., & Warren, A. J. (2011). Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes & Development. https://doi.org/10.1101/gad.623011
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