SBDS expression and localization at the mitotic spindle in human myeloid progenitors

PLoS ONE

Volumn 4, Issue 9, 2009, Pages

  Orelio, Claudia ^a   Verkuijlen, Paul ^a   Geissler, Judy ^a   van den Berg, Timo K ^a   Kuijpers, Taco W ^a,b  

^a SANQUIN RESEARCH   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; RNA; SHWACHMAN BODIAN DIAMOND SYNDROME PROTEIN; UNCLASSIFIED DRUG; CD34 ANTIGEN; PROTEIN; SBDS PROTEIN, HUMAN;

ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; BONE MARROW CELL; CD34 SELECTION; CELL DIFFERENTIATION; CELL DIVISION; CELL PROLIFERATION; CONTROLLED STUDY; DOWN REGULATION; GENE EXPRESSION; GENE INTERACTION; GENE LOCATION; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE TEST; IN VITRO STUDY; INTERPHASE; LEUKEMIA CELL LINE; MICROTUBULE ORGANIZING CENTER; MITOSIS SPINDLE; MYELOID PROGENITOR CELL; NONHUMAN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SHWACHMAN SYNDROME; WESTERN BLOTTING; ACUTE GRANULOCYTIC LEUKEMIA; BIOLOGICAL MODEL; BIOSYNTHESIS; CYTOLOGY; GENE EXPRESSION REGULATION; HEMATOLOGIC DISEASE; HEMATOPOIETIC STEM CELL; IMMUNOLOGY; METABOLISM; MICROTUBULE; MUTATION; NEUTROPHIL; PHYSIOLOGY; RIBOSOME; SYNDROME; TUMOR CELL LINE;

ANTIGENS, CD34; BONE MARROW CELLS; CELL LINE, TUMOR; GENE EXPRESSION REGULATION; HEMATOLOGIC DISEASES; HEMATOPOIETIC STEM CELLS; HUMANS; LEUKEMIA, MYELOID, ACUTE; MICROTUBULES; MITOTIC SPINDLE APPARATUS; MODELS, BIOLOGICAL; MUTATION; NEUTROPHILS; PROTEINS; RIBOSOMES; SYNDROME;

EID: 70349382867     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0007084     Document Type: Article

References (31)

1. Shwachman H, Diamond LK, Oski FA, Khaw KT (1964) The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr 65: 645-63.
2. Bodian M, Sheldon W, Lightwood R (1964) Congenital hypoplasia of the exocrine pancreas. Acta Paediatr 53: 282-93: 282-293.
3. Ginzberg H, Shin J, Ellis L, Morrison J, Ip W, et al. (1999) Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr 135: 81-88.
4. Kuijpers TW, Alders M, Tool AT, Mellink C, Roos D, et al. (2005) Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship. Blood 106: 356-361.
5. Shimamura A (2006) Shwachman-Diamond Syndrome. Semin Hematol 43: 178-188.
6. Donadieu J, Leblanc T, Bader MB, Barkaoui M, Fenneteau O, et al. (2005) Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group. Haematologica 90: 45-53.
7. Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, et al. (2003) Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet 33: 97-101.
8. Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, et al. (2001) Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am J Hum Genet 68: 1048-1054.
9. Kawakami T, Mitsui T, Kanai M, Shirahata E, Sendo D, et al. (2005) Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations. Tohoku J Exp Med 206: 253-259.
10. Nicolis E, Bonizzato A, Assael BM, Cipolli M (2005) Identification of novel mutations in patients with Shwachman-Diamond syndrome. Hum Mutat 25: 410.
11. Austin KM, Leary RJ, Shimamura A (2005) The Shwachman-Diamond SBDS protein localizes to the nucleolus. Blood 106: 1253-1258.
12. Austin KM, Gupta ML, Coats SA, Tulpule A, Mostoslavsky G, et al. (2008) Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. J Clin Invest 118: 1511-1518.
13. Woloszynek JR, Rothbaum RJ, Rawls AS, Minx PJ, Wilson RK, et al. (2004) Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. Blood 104: 3588-3590.
14. Zhang S, Shi M, Hui CC, Rommens JM (2006) Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality. Mol Cell Biol 26: 6656-6663.
15. Ganapathi KA, Austin KM, Lee CS, Dias A, Malsch MM, et al. (2007) The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. Blood 110: 1458-1465.
16. Menne TF, Goyenechea B, Sanchez-Puig N, Wong CC, Tonkin LM, et al. (2007) The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nat Genet 39: 486-495.
17. Savchenko A, Krogan N, Cort JR, Evdokimova E, Lew JM, et al. (2005) The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism. J Biol Chem 280: 19213-19220.
18. Shammas C, Menne TF, Hilcenko C, Michell SR, Goyenechea B, et al. (2005) Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome. J Biol Chem 280: 19221-19229.
19. Liu JM, Ellis SR (2006) Ribosomes and marrow failure: coincidental association or molecular paradigm? Blood.
20. Willig TN, Gazda H, Sieff CA (2000) Diamond-Blackfan anemia. Curr Opin Hematol 7: 85-94.
21. Grisendi S, Bernardi R, Rossi M, Cheng K, Khandker L, et al. (2005) Role of nucleophosmin in embryonic development and tumorigenesis. Nature 437: 147-153.
22. Rawls AS, Gregory AD, Woloszynek JR, Liu F, Link DC (2007) Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential. Blood 110: 2414-2422.
23. Yamaguchi M, Fujimura K, Toga H, Khwaja A, Okamura N, et al. (2007) Shwachman-Diamond Syndrome is not necessary for the terminal maturation of neutrophils but is important for maintaining viability of granulocyte precursors. Exp Hematol 35: 579-586.
24. Buitenhuis M, van Deutekom HW, Verhagen LP, Castor A, Jacobsen SE, et al. (2005) Differential regulation of granulopoiesis by the basic helix-loop-helix transcriptional inhibitors Id1 and Id2. Blood 105: 4272-4281.
25. Orelio C, Dzierzak E (2007) Expression analysis of the TAB2 protein in adult mouse tissues. Inflamm Res 56: 98-104.
26. van Mirre E, Breunis WB, Geissler J, Hack CE, De Boer M, et al. (2006) Neutrophil responsiveness to IgG, as determined by fixed ratios of mRNA levels for activating and inhibitory FcgammaRII (CD32), is stable over time and unaffected by cytokines. Blood 108: 584-590.
27. Elghetany MT (2002) Surface antigen changes during normal neutrophilic development: a critical review. Blood Cells Mol Dis 28: 260-274.
28. Dror Y, Freedman MH (1999) Shwachman-Diamond syndrome: An inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment. Blood 94: 3048-3054.
29. Badano JL, Teslovich TM, Katsanis N (2005) The centrosome in human genetic disease. Nat Rev Genet 6: 194-205.
30. Wiese C, Zheng Y (2006) Microtubule nucleation: gamma-tubulin and beyond. J Cell Sci 119: 4143-4153.
31. Blower MD, Nachury M, Heald R, Weis K (2005) A Rae1-containing ribonucleoprotein complex is required for mitotic spindle assembly. Cell 121: 223-234.