An RNA interference model of RPS19 deficiency in Diamond-Blackfan anemia recapitulates defective hematopoiesis and rescue by dexamethasone: Identification of dexamethasone-responsive genes by microarray

Blood

Volumn 105, Issue 12, 2005, Pages 4620-4626

  Ebert, Benjamin L ^b   Lee, Michele M ^b   Pretz, Jennifer L ^b   Subramanian, Aravind ^b   Mak, Raymond ^b   Golub, Todd R ^a   Sieff, Colin A ^a  

^a DANA FARBER CANCER INSTITUTE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

DEXAMETHASONE; ERYTHROPOIETIN; INTERLEUKIN 3; RIBOSOME PROTEIN; SHORT HAIRPIN RNA; STEM CELL FACTOR;

ARTICLE; BLACKFAN DIAMOND ANEMIA; CELL CULTURE; CELL DIFFERENTIATION; CELL PROLIFERATION; CONTROLLED STUDY; DNA MICROARRAY; DRUG EFFECT; DRUG MECHANISM; ERYTHROID CELL; ERYTHROID PRECURSOR CELL; ERYTHROPOIESIS; GENE EXPRESSION; HEMATOPOIESIS; HUMAN; HUMAN CELL; PRIORITY JOURNAL; PROTEIN DEGRADATION; REGULATOR GENE; REGULATORY MECHANISM; RNA INTERFERENCE;

EID: 20444402200     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2004-08-3313     Document Type: Article

References (41)

1. Josephs HW. Anaemia of infancy and early childhood. Medicine. 1936;15:307-451.
2. Diamond LK, Blackfan KD. Hypoplastic anemia. Am J Dis Child. 1938;56:464-467.
3. Alter BP, Young NS. The bone marrow failure syndromes. In: Orkin SH, ed. Hematology of Infancy and Childhood. 5th ed. Philadelphia, PA: W. B. Saunders Company; 1998:237-335.
4. Draptchinskaia N, Gustavsson P, Andersson B, et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet. 1999;21:169-175.
5. Gazda H, Lipton JM, Niemeyer CM, et al. Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.2-23.1 and for non-19q non-8p disease. Blood. 2001;97:2145-2150.
6. Campagnoli MF, Garelli E, Quarello P, et al. Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature. Haematologica. 2004;89:480-489.
7. Gustavsson P, Garelli E, Draptchinskaia N, et al. Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity. Am J Hum Genet. 1998;63:1388-1395.
8. Hamaguchi I, Ooka A, Brun A, Richter J, Dahl N, Karlsson S. Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia. Blood. 2002;100:2724-2731.
9. Gazda HT, Zhong R, Long L, et al. RNA and protein evidence for haploinsufficiency in Diamond-Blackfan anemia patients with RPS19 mutations. Brit J Haematol. 2004;127:105-113.
10. Willig T-N, Draptchinskaia N, Dianzani I, et al. Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression. Blood. 1999;94:4294-4306.
11. Orfali KA, Ohene-Abuakwa Y, Ball SE. Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity. Br J Haematol. 2004;125:243-252.
12. Matsson H, Davey EJ, Draptchinskaia N, et al. Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation. Mol Cell Biol. 2004;24:4032-4037.
13. Singer JW, Samuels AI, Adamson JW. Steroids and hematopoiesis, I: the effects of steroids on in vitro erythroid colony growth: structure/activity relationships. J Cell Physiol. 1976;88:127-134.
14. Ohene-Abuakwa Y, Orfali KA, Marius C, Ball SE. Two-phase culture in Diamond Blackfan anemia: localization of erythroid defect. Blood. 2005;105:838-846.
15. Brummelkamp T, Bernards R, Agami R. A system for stable expression of short interfering RNAs in mammalian cells. Science. 2002;296:550-553.
16. Elbashir SM, Harborth J, Lendeckel W, Yalcin A, Weber K, Tuschl T. Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells. Nature. 2001;411:494-498.
17. von Lindern M, Zauner W, Mellitzer G, et al. The glucocorticoid receptor cooperates with the erythropoietin receptor and c-Kit to enhance and sustain proliferation of erythroid progenitors in vitro. Blood. 1999;94:550-559.
18. Gabbianelli M, Testa U, Massa A, et al. HbF reactivation in sibling BFU-E colonies: synergistic interaction of kit ligand with low-dose dexamethasone. Blood. 2003;101:2826-2832.
19. Baugh LR, Hill AA, Brown EL, Hunter CP. Quantitative analysis of mRNA amplification by in vitro transcription. Nucleic Acids Res. 2001;29:E29.
20. Reich M, Ohm K, Angelo M, Tamayo P, Mesirov JP. GeneCluster 2.0: an advanced toolset for bioarray analysis. Bioinformatics. 2004;20:1797-1798.
21. Golub TR, Slonim D, Tamayo P, et al. Molecular classification of cancer: class discovery and class prediction by gene expression monitoring. Science. 1999;286:531-537.
22. Olivieri NF, Berriman AM, Davis S, et al. Response to the hematopoietic growth factor IL-3 in patients with Diamond-Blackfan anemia [abstract]. Blood. 1991;78:153a. Abstract 604.
23. Gillio AP, Faulkner LB, Alter BP, et al. Treatment of Diamond-Blackfan anemia with recombinant human interleukin-3. Blood. 1993;82:744-751.
24. Ball SE, Tchernia G, Wranne L, et al. Is there a role for interleukin-3 in Diamond-Blackfan anaemia? Results of a European multicentre study. Br J Haematol. 1995;91:313-318.
25. Olivieri NF, Grunberger T, Ben-David Y, et al. Diamond-Blackfan anemia: heterogenous response of hematopoietic progenitor cells in vitro to the protein product of the Steel locus. Blood. 1991;78:2211-2215.
26. Abkowitz JL, Sabo KM, Nakamoto B, et al. Diamond-Blackfan anemia: in vitro response of erythroid progenitors to the ligand for c-kit. Blood. 1991;78:2198-2202.
27. Sieff CA, Yokoyama CT, Zsebo KM, Nathan DG, Williams DA. The enhancement of erythropoiesis by Steel factor (SF) and the production of SF mRNA is normal in Diamond Blackfan anemia (DBA) [abstract]. Blood. 1991;78:95a. Abstract 369.
28. Da Costa L, Narla G, Willig TN, et al. Ribosomal protein S19 expression during erythroid differentiation. Blood. 2003;101:318-324.
29. Cantor A, Orkin S. Transcriptional regulation of erythropoiesis: an affair involving multiple partners. Oncogene. 2002;21:3368-3376.
30. McKenna HJ, de Vries P, Brasel K, Lyman SD, Williams DE. Effect of fits ligand on the ex vivo expansion of human CD34+ hematopoietic progenitor cells. Blood. 1995;86:3413-3420.
31. Lin RJ, Sternsdorf T, Tini M, Evans RM. Transcriptional regulation in acute promyelocytic leukemia. Oncogene. 2001;20:7204-7215.
32. Sowden J, Edwards M, Morrison K, Butterworth PH, Edwards YH. Erythroid expression and DNAasel-hypersensitive sites of the carbonic anhydrase 1 gene. Biochem J. 1992;288(pt 2):545-551.
33. Hinssen H, Vandekerckhove J, Lazarides E. Gelsolin is expressed in early erythroid progenitor cells and negatively regulated during erythropoiesis. J Cell Biol. 1987;105:1425-1433.
34. Graham GJ, Wright EG, Hewick R, et al. Identification and characterization of an inhibitor of haemopoietic stem cell proliferation, Nature. 1990;344:442-444.
35. Fahnenstich J, Nandy A, Milde-Langosch K, Schneider-Merck T, Walther N, Gellersen B. Promyelocytic leukaemia zinc finger protein (PLZF) is a glucocorticoid- and progesterone-induced transcription factor in human endometrial stromal cells and myometrial smooth muscle cells. Mol Hum Reprod. 2003;9:611-623.
36. Flygare J, Kiefer T, Miyake K, et al. Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia. Prepublished on December 30, 2004, as DOI 10.1182/blood-2004-08-3115.
37. Santucci MA, Bagnara GP, Strippoli P, et al. Long-term bone marrow cultures in Diamond-Blackfan anemia reveal a defect of both granulomacrophage and erythroid progenitors. Exp Hematol. 1999;27:9-18.
38. Casadevall N, Croisille L, Auffray I, Tchernia G, Coulombel L. Age-related alterations in erythroid and granulopoietic progenitors in Diamond-Blackfan anaemia. Br J Haematol. 1994;87:369-375.
39. McGuckin CP, Ball SE, Gordon-Smith EC. Diamond-Blackfan anaemia: three patterns of in vitro response to haemopoietic growth factors. Br J Haematol. 1995;89:457-464.
40. Giri N, Kang E, Tisdale JF, et al. Clinical and laboratory evidence for a trilineage haematopoietic defect in patients with refractory Diamond-Blackfan anaemia. Br J Haematol. 2000;108:167-175.
41. Schofield KP, Evans DI. Diamond-Blackfan syndrome and neutropenia. J Clin Pathol. 1991;44:742-744.