Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS

Pediatric Blood and Cancer

Volumn 60, Issue 2, 2013, Pages 281-286

  Sezgin, Gulay ^a,b   Henson, Adrianna L ^c   Nihrane, Abdallah ^a,b   Singh, Sharon ^a,b   Wattenberg, Max ^c   Alard, Pascale ^d   Ellis, Steven R ^c   Liu, Johnson M ^a,b  

^a FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH   (United States)

^b Northwell Health   (United States)

^c UNIVERSITY OF LOUISVILLE   (United States)

^d University of Louisville School of Medicine   (United States)

Author keywords

Bone marrow failure; Hematopoiesis; Molecular biology

Indexed keywords

GREEN FLUORESCENT PROTEIN; HYBRID PROTEIN; SHWACHMAN BODIAN DIAMOND SYNDROME PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CANCER CELL CULTURE; CELL GROWTH; CELL NUCLEUS; CONTROLLED STUDY; ERYTHROLEUKEMIA CELL; EXPRESSION VECTOR; GENETIC TRANSFECTION; GROWTH INHIBITION; HEMATOPOIESIS; HEMATOPOIETIC CELL; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; LUNG CARCINOMA; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN SUBUNIT; RIBOSOME; RIBOSOME SUBUNIT; RNA INTERFERENCE; SHWACHMAN SYNDROME;

BLOTTING, WESTERN; CELL LINE, TUMOR; CELL PROLIFERATION; GENE KNOCKDOWN TECHNIQUES; HEMATOPOIESIS; HUMANS; PROTEINS; RIBOSOMES; RNA, SMALL INTERFERING; TRANSFECTION;

EID: 84871136391     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.24300     Document Type: Article

References (25)

1. Burroughs L, Woolfrey A, Shimamura A. Shwachman-Diamond syndrome: A review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. Hematol Oncol Clin North Am 2009;23:233-248.
2. Boocock GR, Morrison JA, Popovic M, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet 2003;33:97-101.
3. Zhang S, Shi M, Hui CC, et al. Loss of the mouse ortholog of the Shwachman-Diamond-Syndrome gene (SBDS) results in early embryonic. Mol Cell Biol 2006;26:6656-6663.
4. Rawls AS, Gregory AD, Woloszynek JR, et al. Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential. Blood 2007;110:2414-2422.
5. Raaijmakers MH, Mukherjee S, Guo S, et al. Bone progenitor dysfunction myelodysplasia and secondary leukaemia. Nature 2010;464:852-857.
6. Burwick N, Shimamura A, Liu JM. Non-diamond Blackfan anemia disorders of ribosome function: Shwachman diamond syndrome and 5q-syndrome. Semin Hematol 2011;48:136-143.
7. Menne TF, Goyenechea B, Sanchez-Puig N, et al. The Shwachman-Bodian-Diamond protein mediates translational activation of ribosomes in yeast. Nat Genet 2007;39:486-495.
8. Moore JB, Farrar JE, Arceci RJ, et al. Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome. Haematologica 2010;95:57-64.
9. Finch AJ, Hilcenko C, Basse N, et al. Uncoupling of hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev 2011;25:917-929.
10. Austin KM, Leary RJ, Shimamura A. The Shwachman-Diamond SBDS protein localizes to the nucleolus. Blood 2005;106:1253-1258.
11. Leung R, Cuddy K, Wang Y, et al. SBDS is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis. Blood 2011;117:2044-2053.
12. Wessels D, Srikantha T, Yi S, et al. The Shwachman-Bodian-Diamond syndrome gene encodes an RNA-binding protein that localizes to the pseudopod of Dictyostelium amoebae during chemotaxis. J Cell Sci 2006;119:370-379.
13. Ambekar C, Das B, Yeger H, et al. SBDS-deficiency results in deregulation of reactive oxygen species leading to increased cell death and decreased cell growth. Pediatr Blood Cancer 2010;55:1138-1144.
14. Austin KM, Gupta ML, Coats SA, et al. Mitotic destabilization and genomic instability in Shwachman-Diamond syndrome. J Clin Invest 2008;118:1511-1518.
15. Jaako P, Flygare J, Olsson K, et al. Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia. Blood 2011;118:6087-6096.
16. Miyake K, Flygare J, Kiefer T, et al. Development of cellular models for ribosomal protein S19 (RPS19)-deficient Diamond-Blackfan anemia using inducible expression of siRNA against RPS19. Mol Ther 2005;11:627-637.
17. Thomas F, Kutay U. Biogenesis and nuclear export of ribosomal subunits in higher eukaryotes depend on the CRM1 export pathway. J Cell Sci 2003;116:2409-2419.
18. Senger B, Lafontaine DL, Graindorge JS, et al. The nucle(ol)ar Tif6p and Efl1p are required for a late cytoplasmic step of ribosome synthesis. Mol Cell 2001;8:1363-1373.
19. Nihrane A, Sezgin G, Dsilva S, et al. Depletion of Shwachman-Diamond syndrome gene product, SBDS, leads to growth inhibition and increased expression of OPG and VEGF-A. Blood Cells Mol Dis 2009;42:85-91.
20. Yamaguchi M, Fujimura K, Toga H, et al. Shwachman-Diamond syndrome is not necessary for the terminal maturation of neutrophils but is important for maintaining viability of granulocyte precursors. Exp Hematol 2007;35:579-586.
21. Rujkijyanont P, Watanabe K, Ambekar C, et al. SBDS-deficient cells undergo accelerated through the Fas-pathway. Haematologica 2008;93:363-371.
22. Sen S, Wang H, Nghiem CL, et al. The related protein, SBDS, is critical for normal erythropoiesis. Blood 2011;118:6407-6417.
23. Breen L, Heenan M, Amberger-Murphy V, et al. Investigation of the role of p53 in chemotherapy resistance of lung cancer cell lines. Anticancer Res 2007;27:1361-1364.
24. Russell DW, Spremulli LL. Purification and characterization of a ribosome dissociation factor (eukaryotic initiation factor 6) from wheat germ. J Biol Chem 1979;254:8796-8800.
25. Wong CC, Traynor D, Basse N, et al. Defective ribosome assembly in Shwachman-Diamond syndrome. Blood 2011;118:4305-4312.