The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast

Nature Genetics - Tập 39 Số 4 - Trang 486-495 - 2007
Tobias Menne1, Beatriz Goyenechea2,3, Nuria Sánchez‐Puig2,3, Chi Chun Wong2,3, Louise M. Tonkin2,3, Philip Ancliff4, Renée L. Brost5, Michael Costanzo5, Charles Boone5, Alan J. Warren2,3
1Medical Research Council (MRC) Laboratory of Molecular Biology, Hills Road, Cambridge CB2 0QH, UK.
2Medical Research Council (MRC) Laboratory of Molecular Biology, Cambridge, UK
3The Department of Hematology, University of Cambridge, Cambridge, UK
4Camelia Botnar Laboratories, London, UK
5Banting and Best Department of Medical Research and Department of Molecular Genetics and Microbiology, Terrence Donnelly Center for Cellular and Biomolecular Research, University of Toronto, Toronto, UK

Tóm tắt

Từ khóa


Tài liệu tham khảo

Hall, G.W., Dale, P. & Dodge, J.A. Shwachman-Diamond syndrome: UK perspective. Arch. Dis. Child. 91, 521–524 (2006).

Donadieu, J. et al. Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry. Bone Marrow Transplant. 36, 787–792 (2005).

Boocock, G.R. et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat. Genet. 33, 97–101 (2003).

Koonin, E.V., Wolf, Y.I. & Aravind, L. Prediction of the archaeal exosome and its connections with the proteasome and the translation and transcription machineries by a comparative-genomic approach. Genome Res. 11, 240–252 (2001).

Wu, L.F. et al. Large-scale prediction of Saccharomyces cerevisiae gene function using overlapping transcriptional clusters. Nat. Genet. 31, 255–265 (2002).

Peng, W.T. et al. A panoramic view of yeast noncoding RNA processing. Cell 113, 919–933 (2003).

Krogan, N.J. et al. Global landscape of protein complexes in the yeast Saccharomyces cerevisiae. Nature 440, 637–643 (2006).

Shammas, C. et al. Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome. J. Biol. Chem. 280, 19221–19229 (2005).

Savchenko, A. et al. The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism. J. Biol. Chem. 280, 19213–19220 (2005).

Ho, Y. et al. Systematic identification of protein complexes in Saccharomyces cerevisiae by mass spectrometry. Nature 415, 180–183 (2002).

Andersen, J.S. et al. Nucleolar proteome dynamics. Nature 433, 77–83 (2005).

Austin, K.M., Leary, R.J. & Shimamura, A. The Shwachman-Diamond SBDS protein localizes to the nucleolus. Blood 106, 1253–1258 (2005).

Zhang, S., Shi, M., Hui, C.C. & Rommens, J.M. Loss of the mouse ortholog of the Shwachman-Diamond syndrome gene (Sbds) results in early embryonic lethality. Mol. Cell. Biol. 26, 6656–6663 (2006).

Winzeler, E.A. et al. Functional characterization of the S. cerevisiae genome by gene deletion and parallel analysis. Science 285, 901–906 (1999).

Jorgensen, P. et al. High-resolution genetic mapping with ordered arrays of Saccharomyces cerevisiae deletion mutants. Genetics 162, 1091–1099 (2002).

Becam, A.M., Nasr, F., Racki, W.J., Zagulski, M. & Herbert, C.J. Ria1p (Ynl163c), a protein similar to elongation factors 2, is involved in the biogenesis of the 60S subunit of the ribosome in Saccharomyces cerevisiae. Mol. Genet. Genomics 266, 454–462 (2001).

Senger, B. et al. The nucle(ol)ar Tif6p and Efl1p are required for a late cytoplasmic step of ribosome synthesis. Mol. Cell 8, 1363–1373 (2001).

Basu, U., Si, K., Warner, J.R. & Maitra, U. The Saccharomyces cerevisiae TIF6 gene encoding translation initiation factor 6 is required for 60S ribosomal subunit biogenesis. Mol. Cell. Biol. 21, 1453–1462 (2001).

Ceci, M. et al. Release of eIF6 (p27BBP) from the 60S subunit allows 80S ribosome assembly. Nature 426, 579–584 (2003).

Groft, C.M., Beckmann, R., Sali, A. & Burley, S.K. Crystal structures of ribosome anti-association factor IF6. Nat. Struct. Biol. 7, 1156–1164 (2000).

Schroeder, R., Waldsich, C. & Wank, H. Modulation of RNA function by aminoglycoside antibiotics. EMBO J. 19, 1–9 (2000).

Kressler, D., de la Cruz, J., Rojo, M. & Linder, P. Fal1p is an essential DEAD-box protein involved in 40S-ribosomal-subunit biogenesis in Saccharomyces cerevisiae. Mol. Cell. Biol. 17, 7283–7294 (1997).

Foiani, M., Cigan, A.M., Paddon, C.J., Harashima, S. & Hinnebusch, A.G. GCD2, a translational repressor of the GCN4 gene, has a general function in the initiation of protein synthesis in Saccharomyces cerevisiae. Mol. Cell. Biol. 11, 3203–3216 (1991).

Hurt, E. et al. A novel in vivo assay reveals inhibition of ribosomal nuclear export in ran-cycle and nucleoporin mutants. J. Cell Biol. 144, 389–401 (1999).

West, M., Hedges, J.B., Chen, A. & Johnson, A.W. Defining the order in which Nmd3p and Rpl10p load onto nascent 60S ribosomal subunits. Mol. Cell. Biol. 25, 3802–3813 (2005).

Dick, F.A., Karamanou, S. & Trumpower, B.L. QSR1, an essential yeast gene with a genetic relationship to a subunit of the mitochondrial cytochrome bc1 complex, codes for a 60 S ribosomal subunit protein. J. Biol. Chem. 272, 13372–13379 (1997).

Hazbun, T.R. et al. Assigning function to yeast proteins by integration of technologies. Mol. Cell 12, 1353–1365 (2003).

Ho, J.H., Kallstrom, G. & Johnson, A.W. Nmd3p is a Crm1p-dependent adapter protein for nuclear export of the large ribosomal subunit. J. Cell Biol. 151, 1057–1066 (2000).

Kudo, N. et al. Leptomycin B inhibition of signal-mediated nuclear export by direct binding to CRM1. Exp. Cell Res. 242, 540–547 (1998).

Hung, N.J. & Johnson, A.W. Nuclear recycling of the pre-60S ribosomal subunit-associated factor Arx1 depends on Rei1 in Saccharomyces cerevisiae. Mol. Cell. Biol. 26, 3718–3727 (2006).

Graindorge, J.S. et al. Deletion of EFL1 results in heterogeneity of the 60 S GTPase-associated rRNA conformation. J. Mol. Biol. 352, 355–369 (2005).

Spahn, C.M. et al. Domain movements of elongation factor eEF2 and the eukaryotic 80S ribosome facilitate tRNA translocation. EMBO J. 23, 1008–1019 (2004).

Rodnina, M.V., Savelsbergh, A. & Wintermeyer, W. Dynamics of translation on the ribosome: molecular mechanics of translocation. FEMS Microbiol. Rev. 23, 317–333 (1999).

Draptchinskaia, N. et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat. Genet. 21, 169–175 (1999).

Gazda, H.T. et al. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am. J. Hum. Genet. 79, 1110–1118 (2006).

Heiss, N.S. et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat. Genet. 19, 32–38 (1998).

Lafontaine, D.L., Bousquet-Antonelli, C., Henry, Y., Caizergues-Ferrer, M. & Tollervey, D. The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase. Genes Dev. 12, 527–537 (1998).

Ruggero, D. et al. Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification. Science 299, 259–262 (2003).

Yoon, A. et al. Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. Science 312, 902–906 (2006).

Wong, J.M. & Collins, K. Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita. Genes Dev. 20, 2848–2858 (2006).

Amsterdam, A. et al. Many ribosomal protein genes are cancer genes in zebrafish. PLoS Biol. 2, E139 (2004).

Watson, K.L., Konrad, K.D., Woods, D.F. & Bryant, P.J. Drosophila homolog of the human S6 ribosomal protein is required for tumor suppression in the hematopoietic system. Proc. Natl. Acad. Sci. USA 89, 11302–11306 (1992).

Boocock, G.R., Marit, M.R. & Rommens, J.M. Phylogeny, sequence conservation, and functional complementation of the SBDS protein family. Genomics (2006).

Tong, A.H. et al. Global mapping of the yeast genetic interaction network. Science 303, 808–813 (2004).

Tong, A.H. et al. Systematic genetic analysis with ordered arrays of yeast deletion mutants. Science 294, 2364–2368 (2001).

Davierwala, A.P. et al. The synthetic genetic interaction spectrum of essential genes. Nat. Genet. 37, 1147–1152 (2005).

Carr-Schmid, A. et al. Mutations in elongation factor 1beta, a guanine nucleotide exchange factor, enhance translational fidelity. Mol. Cell. Biol. 19, 5257–5266 (1999).

Schmitt, M.E., Brown, T.A. & Trumpower, B.L. A rapid and simple method for preparation of RNA from Saccharomyces cerevisiae. Nucleic Acids Res. 18, 3091–3092 (1990).

Ancliff, P.J. et al. Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. Blood 108, 2182–2189 (2006).

Sanvito, F. et al. The beta4 integrin interactor p27(BBP/eIF6) is an essential nuclear matrix protein involved in 60S ribosomal subunit assembly. J. Cell Biol. 144, 823–837 (1999).