Impaired ribosomal subunit association in Shwachman-Diamond syndrome

Blood

Volumn 120, Issue 26, 2012, Pages 5143-5152

  Burwick, Nicholas ^a,b   Coats, Scott A ^a   Nakamura, Tomoka ^a   Shimamura, Akiko ^a,c,d  

^a Fred Hutchinson Cancer Research Center   (United States)

^b UNIVERSITY OF WASHINGTON MEDICAL CENTER   (United States)

^c SEATTLE CHILDREN S HOSPITAL   (United States)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; EIF6 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; GENE SILENCING; HUMAN; HUMAN CELL; POINT MUTATION; PRIORITY JOURNAL; RIBOSOME SUBUNIT; RIBOSOME SUBUNIT 40S; RIBOSOME SUBUNIT 60S; RIBOSOME SUBUNIT IMPAIRMENT; SHWACHMAN SYNDROME; WILD TYPE;

EID: 84871485196     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2012-04-420166     Document Type: Article

References (50)

1. Smith OP, Hann IM, Chessells JM, Reeves BR, Milla P. Haematological abnormalities in Shwachman-Diamond syndrome. Br J Haematol. 1996;94(2):279-284. (Pubitemid 26247985)
2. Dror Y, Freedman MH. Shwachman-Diamond syndrome: an inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment. Blood. 1999;94(9):3048-3054. (Pubitemid 29512709)
3. 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(2):233-248.
4. Dror Y, Donadieu J, Koglmeier J, et al. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann N Y Acad Sci. 2011;1242(1):40-55.
5. Boocock GR, Morrison JA, Popovic M, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet. 2003;33(1):97-101. (Pubitemid 36068690)
6. Austin KM, Leary RJ, Shimamura A. The Shwachman-Diamond SBDS protein localizes to the nucleolus. Blood. 2005;106(4):1253-1258. (Pubitemid 41129587)
7. Woloszynek JR, Rothbaum RJ, Rawls AS, et al. Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. Blood. 2004;104(12):3588-3590. (Pubitemid 39564431)
8. Zhang S, Shi M, Hui CC, Rommens JM. Loss of the mouse ortholog of the Shwachman-Diamond syndrome gene (sbds) results in early embryonic lethality. Mol Cell Biol. 2006;26(17):6656-6663. (Pubitemid 44277900)
9. Rawls AS, Gregory AD, Woloszynek JR, Liu F, Link DC. Lentiviral-mediated RNAi inhibition of sbds in murine hematopoietic progenitors impairs their hematopoietic potential. Blood. 2007;110(7):2414-2422. (Pubitemid 47523162)
10. Sen S, Wang H, Nghiem CL, et al. The ribosome-related protein, SBDS, is critical for normal erythropoiesis. Blood. 2011;118(24):6407-6417.
11. Dror Y, Ginzberg H, Dalal I, et al. Immune function in patients with Shwachman-Diamond syndrome. Br J Haematol. 2001;114(3):712-717. (Pubitemid 32953656)
12. Raaijmakers MH, Mukherjee S, Guo S, et al. Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia. Nature. 2010;464(7290):852-857.
13. Johnson AW, Ellis SR. Of blood, bones and ribosomes: is Shwachman-Diamond syndrome a ribosomopathy? Genes Dev. 2011;25(9):898-900.
14. Burwick N, Shimamura A, Liu JM. Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome. Semin Hematol. 2011;48(2):136-143.
15. Ganapathi KA, Austin KM, Lee CS, et al. The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. Blood. 2007;110(5):1458-1465. (Pubitemid 47443960)
16. Menne TF, Goyenechea B, Sanchez-Puig N, et al. The Shwachman-Bodian- Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nat Genet. 2007;39(4):486-495. (Pubitemid 46514776)
17. Finch AJ, Hilcenko C, Basse N, et al. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev. 2011;25(9):917-929.
18. Wong CC, Traynor D, Basse N, Kay RR, Warren AJ. Defective ribosome assembly in Shwachman-Diamond syndrome. Blood. 2011;118(16):4305-4312.
19. Austin KM, Gupta ML, Coats SA, et al. Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. J Clin Invest. 2008;118(4):1511-1518. (Pubitemid 351500444)
20. Ball HL, Zhang B, Riches JJ, et al. Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses. Hum Mol Genet. 2009;18(19):3684-3695.
21. Wessels D, Srikantha T, Yi S, Kuhl S, Aravind L, Soll DR. 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(Pt 2):370-379. (Pubitemid 43210705)
22. Orelio C, Kuijpers TW. Shwachman-Diamond syndrome neutrophils have altered chemoattractant-induced F-actin polymerization and polarization characteristics. Haematologica. 2009;94(3):409-413.
23. Delaney C, Varnum-Finney B, Aoyama K, Brashem-Stein C, Bernstein ID. Dose-dependent effects of the notch ligand Delta1 on ex vivo differentiation and in vivo marrow repopulating ability of cord blood cells. Blood. 2005;106(8):2693-2699. (Pubitemid 41510742)
24. Tulpule A, Lensch MW, Miller JD, et al. Knockdown of Fanconi anemia genes in human embryonic stem cells reveals early developmental defects in the hematopoietic lineage. Blood. 2010;115(17):3453-3462.
25. Valenzuela DM, Chaudhuri A, Maitra U. Eukaryotic ribosomal subunit anti-association activity of calf liver is contained in a single polypeptide chain protein of mr = 25,500 (eukaryotic initiation factor 6). J Biol Chem. 1982;257(13):7712-7719.
26. Ceci M, Gaviraghi C, Gorrini C, et al. Release of eIF6 (p27BBP) from the 60S subunit allows 80S ribosome assembly. Nature. 2003;426(6966):579-584. (Pubitemid 37522646)
27. Wong TE, Calicchio ML, Fleming MD, Shimamura A, Harris MH. SBDS protein expression patterns in the bone marrow. Pediatr Blood Cancer. 2010;55(3):546-549.
28. Moore JB 4th, Farrar JE, Arceci RJ, Liu JM, Ellis SR. Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome. Haematologica. 2010;95(1):57-64.
29. Gorenstein C, Warner JR. Synthesis and turnover of ribosomal proteins in the absence of 60S subunit assembly in Saccharomyces cerevisiae. Mol Gen Genet. 1977;157(3):327-332.
30. Kraft C, Deplazes A, Sohrmann M, Peter M. Mature ribosomes are selectively degraded upon starvation by an autophagy pathway requiring the Ubp3p/Bre5p ubiquitin protease. Nat Cell Biol. 2008;10(5):602-610. (Pubitemid 351627380)
31. Luzzatto L, Banks J, Marks PA. Protein synthesis in erythroid cells. 3. Monoribosome and polyribosome function in the cell-free system. Biochim Biophys Acta. 1965;108(3):434-446.
32. de Oliveira JF, Sforca ML, Blumenschein TM, et al. Structure, dynamics, and RNA interaction analysis of the human SBDS protein. J Mol Biol. 2010;396(4):1053-1069.
33. Shammas C, Menne TF, Hilcenko C, et al. Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome. J Biol Chem. 2005;280(19):19221-19229. (Pubitemid 41379629)
34. Savchenko A, Krogan N, Cort JR, et al. The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism. J Biol Chem. 2005;280(19):19213-19220. (Pubitemid 41379628)
35. Sanvito F, Piatti S, Villa A, et al. The beta4 integrin interactor p27(BBP/eIF6) is an essential nuclear matrix protein involved in 60S ribosomal subunit assembly. J Cell Biol. 1999;144(5):823-837. (Pubitemid 29238961)
36. Basu U, Si K, Warner JR, Maitra U. The Saccharomyces cerevisiae TIF6 gene encoding translation initiation factor 6 is required for 60S ribosomal subunit biogenesis. Mol Cell Biol. 2001;21(5):1453-1462. (Pubitemid 32156365)
37. Kressler D, Hurt E, Bassler J. Driving ribosome assembly. Biochim Biophys Acta. 2010;1803(6):673-683.
38. Panse VG, Johnson AW. Maturation of eukaryotic ribosomes: acquisition of functionality. Trends Biochem Sci. 2010;35(5):260-266.
39. Acker MG, Lorsch JR. Mechanism of ribosomal subunit joining during eukaryotic translation initiation. Biochem Soc Trans. 2008;(Pt4):653-657.
40. Jackson RJ, Hellen CU, Pestova TV. The mechanism of eukaryotic translation initiation and principles of its regulation. Nat Rev Mol Cell Biol. 2010;11(2):113-127.
41. Sezgin G, Henson AL, Nihrane A, et al. Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS [published online ahead of print September 19, 2012]. Pediatr Blood Cancer. doi:10.1002/pbc.24300.
42. Elghetany MT, Alter BP. p53 protein overexpression in bone marrow biopsies of patients with Shwachman-Diamond syndrome has a prevalence similar to that of patients with refractory anemia. Arch Pathol Lab Med. 2002;126(4):452-455. (Pubitemid 34286811)
43. Dror Y. P53 protein overexpression in Shwachman-Diamond syndrome. Arch Pathol Lab Med. 2002;126(10):1157-1158. (Pubitemid 36236602)
44. Rujkijyanont P, Watanabe K, Ambekar C, et al. SBDS-deficient cells undergo accelerated apoptosis through the fas-pathway. Haematologica. 2008;93(3):363-371. (Pubitemid 351398637)
45. Ambekar C, Das B, Yeger H, Dror Y. SBDS-deficiency results in deregulation of reactive oxygen species leading to increased cell death and decreased cell growth. Pediatr Blood Cancer. 2010;55(6):1138-1144.
46. Shimamura A, Alter BP. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev. 2010;24(3):101-122.
47. Luzzatto L, Karadimitris A. Dyskeratosis and ribosomal rebellion. Nat Genet. 1998;19(1):6-7. (Pubitemid 28242013)
48. Martin-Marcos P, Hinnebusch AG, Tamame M. Ribosomal protein L33 is required for ribosome biogenesis, subunit joining, and repression of GCN4 translation. Mol Cell Biol. 2007;27(17):5968-5985. (Pubitemid 47326688)
49. Foiani M, Cigan AM, Paddon CJ, Harashima S, Hinnebusch AG. GCD2, a translational repressor of the GCN4 gene, has a general function in the initiation of protein synthesis in Saccharomyces cerevisiae. Mol Cell Biol. 1991;11(6):3203-3216. (Pubitemid 21895708)
50. Steffen KK, MacKay VL, Kerr EO, et al. Yeast life span extension by depletion of 60S ribosomal subunits is mediated by Gcn4. Cell. 2008;133(2):292-302. (Pubitemid 351508304)