메뉴 건너뛰기




Volumn 24, Issue 9, 2006, Pages 2034-2044

Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia

Author keywords

Apoptosis; Bone marrow failure; Cancer; Diamond Blackfan anemia; Global gene expression; Ribosomal protein genes

Indexed keywords

FAS ANTIGEN; PROTEIN MYB; PROTEIN RIBOSOMAL PROTEIN S19; RIBOSOME PROTEIN; UNCLASSIFIED DRUG;

EID: 33748744175     PISSN: 10665099     EISSN: None     Source Type: Journal    
DOI: 10.1634/stemcells.2005-0554     Document Type: Article
Times cited : (78)

References (46)
  • 1
    • 0001652428 scopus 로고    scopus 로고
    • The bone marrow failure syndromes
    • Nathan DG, Orkin HS, eds. Philadelphia, PA: Saunders
    • Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Orkin HS, eds. Hematology of Infancy and Childhood. Vol 1. Philadelphia, PA: Saunders, 1998:237-335.
    • (1998) Hematology of Infancy and Childhood , vol.1 , pp. 237-335
    • Alter, B.P.1    Young, N.S.2
  • 2
    • 0032723176 scopus 로고    scopus 로고
    • Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients
    • DBA group of Societe d'Hematologie et d'Immunologie pediatrique (SHIP), Gesellshaft fur Padiatrische Onkologie und Hamatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI)
    • Willig TN, Niemeyer CM, Leblanc T et al. Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Societe d'Hematologie et d'Immunologie pediatrique (SHIP), Gesellshaft fur Padiatrische Onkologie und Hamatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI). Pediatr Res 1999;46:553-561.
    • (1999) Pediatr Res , vol.46 , pp. 553-561
    • Willig, T.N.1    Niemeyer, C.M.2    Leblanc, T.3
  • 3
    • 0029737830 scopus 로고    scopus 로고
    • Diamond-Blackfan anaemia in the U.K.: Analysis of 80 cases from a 20-year birth cohort
    • Ball SE, McGuckin CP, Jenkins G et al. Diamond-Blackfan anaemia in the U.K.: Analysis of 80 cases from a 20-year birth cohort. Br J Haematol 1996;94:645-653.
    • (1996) Br J Haematol , vol.94 , pp. 645-653
    • Ball, S.E.1    McGuckin, C.P.2    Jenkins, G.3
  • 4
    • 0029940791 scopus 로고    scopus 로고
    • Diamond-Blackfan anemia. Natural history and sequelae of treatment
    • (Baltimore)
    • Janov AJ, Leong T, Nathan DG et al. Diamond-Blackfan anemia. Natural history and sequelae of treatment. Medicine (Baltimore) 1996;75:77-78.
    • (1996) Medicine , vol.75 , pp. 77-78
    • Janov, A.J.1    Leong, T.2    Nathan, D.G.3
  • 5
    • 0029086302 scopus 로고
    • Diamond-Blackfan anemia and malignancy. A case report and a review of the literature
    • van Dijken PJ, Verwijs W. Diamond-Blackfan anemia and malignancy. A case report and a review of the literature. Cancer 1995;76:517-520.
    • (1995) Cancer , vol.76 , pp. 517-520
    • Van Dijken, P.J.1    Verwijs, W.2
  • 6
    • 0035129306 scopus 로고    scopus 로고
    • Osteogenic sarcoma associated with Diamond-Blackfan anemia: A report from the Diamond-Blackfan Anemia Registry
    • Lipton JM, Federman N, Khabbaze Y et al. Osteogenic sarcoma associated with Diamond-Blackfan anemia: A report from the Diamond-Blackfan Anemia Registry. J Pediatr Hematol Oncol 2001;23:39-44.
    • (2001) J Pediatr Hematol Oncol , vol.23 , pp. 39-44
    • Lipton, J.M.1    Federman, N.2    Khabbaze, Y.3
  • 7
    • 0032907438 scopus 로고    scopus 로고
    • The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
    • 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.
    • (1999) Nat Genet , vol.21 , pp. 169-175
    • Draptchinskaia, N.1    Gustavsson, P.2    Andersson, B.3
  • 8
    • 13044266374 scopus 로고    scopus 로고
    • Mutations in ribosomal protein S19 gene and diamond blackfan anemia: Wide variations in phenotypic expression
    • Willig TN, 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.
    • (1999) Blood , vol.94 , pp. 4294-4306
    • Willig, T.N.1    Draptchinskaia, N.2    Dianzani, I.3
  • 9
    • 2042437071 scopus 로고    scopus 로고
    • Diamond Blackfan anaemia in the UK: Clinical and genetic heterogeneity
    • Orfali KA, Ohene-Abuakwa Y, Ball SE. Diamond Blackfan anaemia in the UK: Clinical and genetic heterogeneity. Br J Haematol 2004;125:243-252.
    • (2004) Br J Haematol , vol.125 , pp. 243-252
    • Orfali, K.A.1    Ohene-Abuakwa, Y.2    Ball, S.E.3
  • 10
    • 4944266230 scopus 로고    scopus 로고
    • RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations
    • Gazda HT, Zhong R, Long L et al. RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. Br J Haematol 2004;127:105-113.
    • (2004) Br J Haematol , vol.127 , pp. 105-113
    • Gazda, H.T.1    Zhong, R.2    Long, L.3
  • 11
    • 0037222691 scopus 로고    scopus 로고
    • Ribosomal protein S19 expression during erythroid differentiation
    • Da Costa L, Narla G, Willig TN et al. Ribosomal protein S19 expression during erythroid differentiation. Blood 2003;101:318-324.
    • (2003) Blood , vol.101 , pp. 318-324
    • Da Costa, L.1    Narla, G.2    Willig, T.N.3
  • 12
    • 33644690901 scopus 로고    scopus 로고
    • Specific role for yeast homologs of the diamond blackfan anemia associated Rps19 protein in ribosome synthesis
    • Leger-Silvestre I, Caffrey JM, Dawaliby R et al. Specific role for yeast homologs of the diamond blackfan anemia associated Rps19 protein in ribosome synthesis. J Biol Chem 12 2005.
    • (2005) J Biol Chem , pp. 12
    • Leger-Silvestre, I.1    Caffrey, J.M.2    Dawaliby, R.3
  • 13
    • 11244326224 scopus 로고    scopus 로고
    • Two-phase culture in Diamond Blackfan anemia: Localization of erythroid defect
    • Ohene-Abuakwa Y, Orfali KA, Marius C et al. Two-phase culture in Diamond Blackfan anemia: Localization of erythroid defect Blood 2005;105:838-846.
    • (2005) Blood , vol.105 , pp. 838-846
    • Ohene-Abuakwa, Y.1    Orfali, K.A.2    Marius, C.3
  • 14
    • 0026505736 scopus 로고
    • Long-term erythropoiesis from constant numbers of CD34+ cells in serum-free cultures initiated with highly purified progenitor cells from human bone marrow
    • Lansdorp PM, Dragowska W. Long-term erythropoiesis from constant numbers of CD34+ cells in serum-free cultures initiated with highly purified progenitor cells from human bone marrow. J Exp Med 1992;175:1501-1509.
    • (1992) J Exp Med , vol.175 , pp. 1501-1509
    • Lansdorp, P.M.1    Dragowska, W.2
  • 15
    • 0037069368 scopus 로고    scopus 로고
    • Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle
    • Haslett JN, Sanoudou D, Kho AT et al. Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle. Proc Natl Acad Sci U S A 2002;99:15000-15005.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 15000-15005
    • Haslett, J.N.1    Sanoudou, D.2    Kho, A.T.3
  • 16
    • 0034807713 scopus 로고    scopus 로고
    • Analysing gene expression data from DNA microarrays to identify candidate genes
    • Wu TD. Analysing gene expression data from DNA microarrays to identify candidate genes. J Pathol 2001;195:53-65.
    • (2001) J Pathol , vol.195 , pp. 53-65
    • Wu, T.D.1
  • 17
    • 1842831283 scopus 로고    scopus 로고
    • Conserved mechanisms across development and tumorigenesis revealed by a mouse development perspective of human cancers
    • Kho AT, Zhao Q, Cai Z et al. Conserved mechanisms across development and tumorigenesis revealed by a mouse development perspective of human cancers. Genes Dev 2004;18:629-640.
    • (2004) Genes Dev , vol.18 , pp. 629-640
    • Kho, A.T.1    Zhao, Q.2    Cai, Z.3
  • 18
    • 0036069214 scopus 로고    scopus 로고
    • Interactive exploration of microarray gene expression patterns in a reduced dimensional space
    • Misra J, Schmitt W, Hwang D et al. Interactive exploration of microarray gene expression patterns in a reduced dimensional space. Genome Res 2002;12:1112-1120.
    • (2002) Genome Res , vol.12 , pp. 1112-1120
    • Misra, J.1    Schmitt, W.2    Hwang, D.3
  • 19
    • 0032441150 scopus 로고    scopus 로고
    • Cluster analysis and display of genome-wide expression patterns
    • Eisen MB, Spellman PT, Brown PO et al. Cluster analysis and display of genome-wide expression patterns. Proc Natl Acad Sci U S A 1998;95:14863-14868.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 14863-14868
    • Eisen, M.B.1    Spellman, P.T.2    Brown, P.O.3
  • 20
    • 0037117589 scopus 로고    scopus 로고
    • Identification of genes expressed with temporal-spatial restriction to developing cerebellar neuron precursors by a functional genomic approach
    • Zhao Q, Kho A, Kenney AM et al. Identification of genes expressed with temporal-spatial restriction to developing cerebellar neuron precursors by a functional genomic approach. Proc Natl Acad Sci U S A 2002;99:5704-5709.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 5704-5709
    • Zhao, Q.1    Kho, A.2    Kenney, A.M.3
  • 21
    • 0035942271 scopus 로고    scopus 로고
    • Significance analysis of microarrays applied to the ionizing radiation response
    • Tusher VG, Tibshirani R, Chu G. Significance analysis of microarrays applied to the ionizing radiation response. Proc Natl Acad Sci U S A 2001;98:5116-5121.
    • (2001) Proc Natl Acad Sci U S A , vol.98 , pp. 5116-5121
    • Tusher, V.G.1    Tibshirani, R.2    Chu, G.3
  • 22
    • 0029007314 scopus 로고
    • RSK3 encodes a novel pp90rsk isoform with a unique N-terminal sequence: Growth factor-stimulated kinase function and nuclear translocation
    • Zhao Y, Bjorbaek C, Weremowicz S et al. RSK3 encodes a novel pp90rsk isoform with a unique N-terminal sequence: Growth factor-stimulated kinase function and nuclear translocation. Mol Cell Biol 1995;15:4353-4363.
    • (1995) Mol Cell Biol , vol.15 , pp. 4353-4363
    • Zhao, Y.1    Bjorbaek, C.2    Weremowicz, S.3
  • 23
    • 0035933115 scopus 로고    scopus 로고
    • T cell-specific FADD-deficient mice: FADD is required for early T cell development
    • Kabra NH, Kang C, Hsing LC et al. T cell-specific FADD-deficient mice: FADD is required for early T cell development. Proc Natl Acad Sci U S A 2001;98:6307-6312.
    • (2001) Proc Natl Acad Sci U S A , vol.98 , pp. 6307-6312
    • Kabra, N.H.1    Kang, C.2    Hsing, L.C.3
  • 24
    • 0037012845 scopus 로고    scopus 로고
    • Genomic instability in mice lacking histone H2AX
    • Celeste A, Petersen S, Romanienko PJ et al. Genomic instability in mice lacking histone H2AX. Science 2002;296:922-927.
    • (2002) Science , vol.296 , pp. 922-927
    • Celeste, A.1    Petersen, S.2    Romanienko, P.J.3
  • 25
    • 0027442869 scopus 로고
    • Characterization of a human DNA damage binding protein implicated in xeroderma pigmentosum E
    • Keeney S, Chang GJ, Linn S. Characterization of a human DNA damage binding protein implicated in xeroderma pigmentosum E. J Biol Chem 1993;268:21293-21300.
    • (1993) J Biol Chem , vol.268 , pp. 21293-21300
    • Keeney, S.1    Chang, G.J.2    Linn, S.3
  • 26
    • 1942502372 scopus 로고    scopus 로고
    • Loss of RhoB expression in human lung cancer progression
    • Mazieres J, Antonia T, Daste G et al. Loss of RhoB expression in human lung cancer progression. Clin Cancer Res 2004;10:2742-2750.
    • (2004) Clin Cancer Res , vol.10 , pp. 2742-2750
    • Mazieres, J.1    Antonia, T.2    Daste, G.3
  • 27
    • 0035932960 scopus 로고    scopus 로고
    • RhoB is required to mediate apoptosis in neoplastically transformed cells after DNA damage
    • Liu A, Cerniglia GJ, Bernhard EJ et al. RhoB is required to mediate apoptosis in neoplastically transformed cells after DNA damage. Proc Natl Acad Sci U S A 2001;98:6192-6197.
    • (2001) Proc Natl Acad Sci U S A , vol.98 , pp. 6192-6197
    • Liu, A.1    Cerniglia, G.J.2    Bernhard, E.J.3
  • 28
    • 3042817487 scopus 로고    scopus 로고
    • Enhanced expression of leptin and leptin receptor (OB-R) in human breast cancer
    • Ishikawa M, Kitayama J, Nagawa H. Enhanced expression of leptin and leptin receptor (OB-R) in human breast cancer. Clin Cancer Res 2004;10:4325-4331.
    • (2004) Clin Cancer Res , vol.10 , pp. 4325-4331
    • Ishikawa, M.1    Kitayama, J.2    Nagawa, H.3
  • 29
    • 1242341511 scopus 로고    scopus 로고
    • Aberrant expression and possible involvement of the leptin receptor in bladder cancer
    • Yuan SS, Chung YF, Chen HW et al. Aberrant expression and possible involvement of the leptin receptor in bladder cancer. Urology 2004;63:408-413.
    • (2004) Urology , vol.63 , pp. 408-413
    • Yuan, S.S.1    Chung, Y.F.2    Chen, H.W.3
  • 30
    • 0037130961 scopus 로고    scopus 로고
    • A stem cell molecular signature
    • Ivanova NB, Dimos JT, Schaniel C et al. A stem cell molecular signature. Science 2002;298:601-604.
    • (2002) Science , vol.298 , pp. 601-604
    • Ivanova, N.B.1    Dimos, J.T.2    Schaniel, C.3
  • 31
    • 0037968549 scopus 로고    scopus 로고
    • Gene expression analysis of purified hematopoietic stem cells and committed progenitors
    • Terskikh AV, Miyamoto T, Chang C et al. Gene expression analysis of purified hematopoietic stem cells and committed progenitors. Blood 2003;102:94-101.
    • (2003) Blood , vol.102 , pp. 94-101
    • Terskikh, A.V.1    Miyamoto, T.2    Chang, C.3
  • 32
    • 9144226389 scopus 로고    scopus 로고
    • Molecular signatures of self-renewal, differentiation, and lineage choice in multipotential hemopoietic progenitor cells in vitro
    • Bruno L, Hoffmann R, McBlane F et al. Molecular signatures of self-renewal, differentiation, and lineage choice in multipotential hemopoietic progenitor cells in vitro. Mol Cell Biol 2004;24:741-756.
    • (2004) Mol Cell Biol , vol.24 , pp. 741-756
    • Bruno, L.1    Hoffmann, R.2    McBlane, F.3
  • 33
    • 25444476461 scopus 로고    scopus 로고
    • Transcriptional profiling of human hematopoiesis during in vitro lineage-specific differentiation
    • Komor M, Guller S, Baldus CD et al. Transcriptional profiling of human hematopoiesis during in vitro lineage-specific differentiation. STEM CELLS 2005;23:1154-1169.
    • (2005) Stem Cells , vol.23 , pp. 1154-1169
    • Komor, M.1    Guller, S.2    Baldus, C.D.3
  • 34
    • 0346966820 scopus 로고    scopus 로고
    • Gene expression profiling in CD34 cells to identify differences between aplastic anemia patients and healthy volunteers
    • Zeng W, Chen G, Kajigaya S et al. Gene expression profiling in CD34 cells to identify differences between aplastic anemia patients and healthy volunteers. Blood 2004;103:325-332.
    • (2004) Blood , vol.103 , pp. 325-332
    • Zeng, W.1    Chen, G.2    Kajigaya, S.3
  • 35
    • 0017863247 scopus 로고
    • Erythroid precursors in congenital hypoplastic (Diamond-Blackfan) anemia
    • Nathan DG, Clarke BJ, Hillman DG et al. Erythroid precursors in congenital hypoplastic (Diamond-Blackfan) anemia. J Clin Invest 1978;61:489-498.
    • (1978) J Clin Invest , vol.61 , pp. 489-498
    • Nathan, D.G.1    Clarke, B.J.2    Hillman, D.G.3
  • 36
    • 0022647619 scopus 로고
    • Defective erythroid progenitor differentiation system in congenital hypoplastic (Diamond-Blackfan) anemia
    • Lipton JM, Kudisch M, Gross R et al. Defective erythroid progenitor differentiation system in congenital hypoplastic (Diamond-Blackfan) anemia. Blood 1986;67:962-968.
    • (1986) Blood , vol.67 , pp. 962-968
    • Lipton, J.M.1    Kudisch, M.2    Gross, R.3
  • 37
    • 0028951418 scopus 로고
    • Diamond-Blackfan anaemia: Three patterns of in vitro response to haemopoietic growth factors
    • 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.
    • (1995) Br J Haematol , vol.89 , pp. 457-464
    • McGuckin, C.P.1    Ball, S.E.2    Gordon-Smith, E.C.3
  • 38
    • 0027053818 scopus 로고
    • The production of steel factor mRNA in Diamond-Blackfan anaemia long-term cultures and interactions of steel factor with erythropoietin and interleukin-3
    • Sieff CA, Yokoyama CT, Zsebo KM et al. The production of steel factor mRNA in Diamond-Blackfan anaemia long-term cultures and interactions of steel factor with erythropoietin and interleukin-3. Br J Haematol 1992;82:640-647.
    • (1992) Br J Haematol , vol.82 , pp. 640-647
    • Sieff, C.A.1    Yokoyama, C.T.2    Zsebo, K.M.3
  • 39
    • 0038190929 scopus 로고    scopus 로고
    • Proliferation deficiency of multipotent hematopoietic progenitors in ribosomal protein S19 (RPS19)-deficient diamond-Blackfan anemia improves following RPS19 gene transfer
    • Hamaguchi I, Flygare J, Nishiura H et al. Proliferation deficiency of multipotent hematopoietic progenitors in ribosomal protein S19 (RPS19)-deficient diamond-Blackfan anemia improves following RPS19 gene transfer. Mol Ther 2003;7:613-622.
    • (2003) Mol Ther , vol.7 , pp. 613-622
    • Hamaguchi, I.1    Flygare, J.2    Nishiura, H.3
  • 40
    • 20444402200 scopus 로고    scopus 로고
    • 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
    • Ebert BL, Lee MM, Pretz JL et al. 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 2005;105:4620-4626.
    • (2005) Blood , vol.105 , pp. 4620-4626
    • Ebert, B.L.1    Lee, M.M.2    Pretz, J.L.3
  • 41
    • 20444363463 scopus 로고    scopus 로고
    • Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia
    • 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. Blood 2005;105:4627-4634.
    • (2005) Blood , vol.105 , pp. 4627-4634
    • Flygare, J.1    Kiefer, T.2    Miyake, K.3
  • 42
    • 0025821494 scopus 로고
    • A functional c-myb gene is required for normal murine fetal hepatic hematopoiesis
    • Mucenski ML, McLain K, Kier AB et al. A functional c-myb gene is required for normal murine fetal hepatic hematopoiesis. Cell 1991;65:677-689.
    • (1991) Cell , vol.65 , pp. 677-689
    • Mucenski, M.L.1    McLain, K.2    Kier, A.B.3
  • 43
    • 0043239343 scopus 로고    scopus 로고
    • Progression through key stages of haemopoiesis is dependent on distinct threshold levels of c-Myb
    • Emambokus N, Vegiopoulos A, Harman B et al. Progression through key stages of haemopoiesis is dependent on distinct threshold levels of c-Myb. EMBO J 2003;22:4478-4488.
    • (2003) EMBO J , vol.22 , pp. 4478-4488
    • Emambokus, N.1    Vegiopoulos, A.2    Harman, B.3
  • 44
    • 0032950951 scopus 로고    scopus 로고
    • Apoptotic role of Fas/Fas ligand system in the regulation of erythropoiesis
    • De Maria R, Testa U, Luchetti L et al. Apoptotic role of Fas/Fas ligand system in the regulation of erythropoiesis. Blood 1999;93:796-803.
    • (1999) Blood , vol.93 , pp. 796-803
    • De Maria, R.1    Testa, U.2    Luchetti, L.3
  • 45
    • 0028118411 scopus 로고
    • Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis
    • Perdahl EB, Naprstek BL, Wallace WC et al. Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis. Blood 1994;83:645-650.
    • (1994) Blood , vol.83 , pp. 645-650
    • Perdahl, E.B.1    Naprstek, B.L.2    Wallace, W.C.3
  • 46
    • 19344366193 scopus 로고    scopus 로고
    • Many ribosomal protein genes are cancer genes in zebrafish
    • Amsterdam A, Sadler KC, Lai K et al. Many ribosomal protein genes are cancer genes in zebrafish. PLoS Biol 2004;2:E139.
    • (2004) PLoS Biol , vol.2
    • Amsterdam, A.1    Sadler, K.C.2    Lai, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.