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Volumn 20, Issue 7, 2014, Pages 748-753

Altered translation of GATA1 in Diamond-Blackfan anemia

(13)  Ludwig, Leif S a,b,c,d,e,f   Gazda, Hanna T a,d,g   Eng, Jennifer C c,d   Eichhorn, Stephen W c,h   Thiru, Prathapan c   Ghazvinian, Roxanne a   George, Tracy I i   Gotlib, Jason R i   Beggs, Alan H a,g   Sieff, Colin A a,b,g   Lodish, Harvey F c,d,h   Lander, Eric S d,g,h   Sankaran, Vijay G a,b,c,d,g  


Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROPOIETIN RECEPTOR; INITIATION FACTOR 4E; INITIATION FACTOR 4G; JANUS KINASE 2; MESSENGER RNA; STAT5A PROTEIN; TRANSCRIPTION FACTOR GATA 1; TRANSCRIPTION FACTOR TAL1; TRANSFERRIN RECEPTOR;

EID: 84904021040     PISSN: 10788956     EISSN: 1546170X     Source Type: Journal    
DOI: 10.1038/nm.3557     Document Type: Article
Times cited : (244)

References (43)
  • 1
    • 84861892842 scopus 로고    scopus 로고
    • Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia
    • Gazda, H.T. et al. Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. Hum. Mutat. 33, 1037-1044 (2012).
    • (2012) Hum. Mutat , vol.33 , pp. 1037-1044
    • Gazda, H.T.1
  • 2
    • 62949245936 scopus 로고    scopus 로고
    • Diamond-Blackfan anemia: Diagnosis, treatment, and molecular pathogenesis
    • Lipton, J.M. & Ellis, S.R. Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis. Hematol. Oncol. Clin. North Am. 23, 261-282 (2009).
    • (2009) Hematol. Oncol. Clin. North Am , vol.23 , pp. 261-282
    • Lipton, J.M.1    Ellis, S.R.2
  • 3
    • 84878013555 scopus 로고    scopus 로고
    • Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia
    • Bolze, A. et al. Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science 340, 976-978 (2013).
    • (2013) Science , vol.340 , pp. 976-978
    • Bolze, A.1
  • 4
    • 84873084751 scopus 로고    scopus 로고
    • Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia
    • De Keersmaecker, K. et al. Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia. Nat. Genet. 45, 186-190 (2013).
    • (2013) Nat. Genet , vol.45 , pp. 186-190
    • De Keersmaecker, K.1
  • 5
    • 84861418314 scopus 로고    scopus 로고
    • Specialized ribosomes: A new frontier in gene regulation and organismal biology
    • Xue, S. & Barna, M. Specialized ribosomes: a new frontier in gene regulation and organismal biology. Nat. Rev. Mol. Cell Biol. 13, 355-369 (2012).
    • (2012) Nat. Rev. Mol. Cell Biol , vol.13 , pp. 355-369
    • Xue, S.1    Barna, M.2
  • 8
    • 84855594206 scopus 로고    scopus 로고
    • Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts
    • Horos, R. et al. Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts. Blood 119, 262-272 (2012).
    • (2012) Blood , vol.119 , pp. 262-272
    • Horos, R.1
  • 9
    • 79951527307 scopus 로고    scopus 로고
    • Erythropoiesis failure due to RPS19 deficiency is independent of an activated Tp53 response in a zebrafish model of Diamond-Blackfan anaemia
    • Torihara, H. et al. Erythropoiesis failure due to RPS19 deficiency is independent of an activated Tp53 response in a zebrafish model of Diamond-Blackfan anaemia. Br. J. Haematol. 152, 648-654 (2011).
    • (2011) Br. J. Haematol , vol.152 , pp. 648-654
    • Torihara, H.1
  • 10
    • 82955222912 scopus 로고    scopus 로고
    • Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia
    • Jaako, P. et al. Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia. Blood 118, 6087-6096 (2011).
    • (2011) Blood , vol.118 , pp. 6087-6096
    • Jaako, P.1
  • 11
    • 84863554398 scopus 로고    scopus 로고
    • Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia
    • Sankaran, V.G. et al. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J. Clin. Invest. 122, 2439-2443 (2012).
    • (2012) J. Clin. Invest , vol.122 , pp. 2439-2443
    • Sankaran, V.G.1
  • 12
    • 39349096526 scopus 로고    scopus 로고
    • Hematopoiesis: An evolving paradigm for stem cell biology
    • Orkin, S.H. & Zon, L.I. Hematopoiesis: an evolving paradigm for stem cell biology. Cell 132, 631-644 (2008).
    • (2008) Cell , vol.132 , pp. 631-644
    • Orkin, S.H.1    Zon, L.I.2
  • 13
    • 0036727413 scopus 로고    scopus 로고
    • Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome
    • Wechsler, J. et al. Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nat. Genet. 32, 148-152 (2002).
    • (2002) Nat. Genet , vol.32 , pp. 148-152
    • Wechsler, J.1
  • 14
    • 0023664886 scopus 로고
    • Translation initiation at an ACG triplet in mammalian cells
    • Peabody, D.S. Translation initiation at an ACG triplet in mammalian cells. J. Biol. Chem. 262, 11847-11851 (1987).
    • (1987) J. Biol. Chem , vol.262 , pp. 11847-11851
    • Peabody, D.S.1
  • 15
    • 79953117045 scopus 로고    scopus 로고
    • Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells
    • Dutt, S. et al. Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells. Blood 117, 2567-2576 (2011).
    • (2011) Blood , vol.117 , pp. 2567-2576
    • Dutt, S.1
  • 16
    • 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. 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 105, 4627-4634 (2005).
    • (2005) Blood , vol.105 , pp. 4627-4634
    • Flygare, J.1
  • 17
    • 79952169016 scopus 로고    scopus 로고
    • Micro RNA-15a and -16-1 act via MYB to elevate fetal hemoglobin expression in human trisomy 13
    • Sankaran, V.G. et al. Micro RNA-15a and -16-1 act via MYB to elevate fetal hemoglobin expression in human trisomy 13. Proc. Natl. Acad. Sci. USA 108, 1519-1524 (2011).
    • (2011) Proc. Natl. Acad. Sci. USA , vol.108 , pp. 1519-1524
    • Sankaran, V.G.1
  • 18
    • 0030041884 scopus 로고    scopus 로고
    • Translation initiation of ornithine decarboxylase and nucleocytoplasmic transport of cyclin D1 mRNA are increased in cells overexpressing eukaryotic initiation factor 4E
    • Rousseau, D., Kaspar, R., Rosenwald, I., Gehrke, L. & Sonenberg, N. Translation initiation of ornithine decarboxylase and nucleocytoplasmic transport of cyclin D1 mRNA are increased in cells overexpressing eukaryotic initiation factor 4E. Proc. Natl. Acad. Sci. USA 93, 1065-1070 (1996).
    • (1996) Proc. Natl. Acad. Sci. USA , vol.93 , pp. 1065-1070
    • Rousseau, D.1    Kaspar, R.2    Rosenwald, I.3    Gehrke, L.4    Sonenberg, N.5
  • 19
    • 79955537355 scopus 로고    scopus 로고
    • Ribosome-mediated specificity in Hox mRNA translation and vertebrate tissue patterning
    • Kondrashov, N. et al. Ribosome-mediated specificity in Hox mRNA translation and vertebrate tissue patterning. Cell 145, 383-397 (2011).
    • (2011) Cell , vol.145 , pp. 383-397
    • Kondrashov, N.1
  • 20
    • 33745464039 scopus 로고    scopus 로고
    • Selective identification of newly synthesized proteins in mammalian cells using bioorthogonal noncanonical amino acid tagging (BONCAT)
    • Dieterich, D.C., Link, A.J., Graumann, J., Tirrell, D.A. & Schuman, E.M. Selective identification of newly synthesized proteins in mammalian cells using bioorthogonal noncanonical amino acid tagging (BONCAT). Proc. Natl. Acad. Sci. USA 103, 9482-9487 (2006).
    • (2006) Proc. Natl. Acad. Sci. USA , vol.103 , pp. 9482-9487
    • Dieterich, D.C.1    Link, A.J.2    Graumann, J.3    Tirrell, D.A.4    Schuman, E.M.5
  • 21
    • 33750939777 scopus 로고    scopus 로고
    • Translational efficiency in patients with Diamond-Blackfan anemia
    • Cmejlova, J. et al. Translational efficiency in patients with Diamond-Blackfan anemia. Haematologica 91, 1456-1464 (2006).
    • (2006) Haematologica , vol.91 , pp. 1456-1464
    • Cmejlova, J.1
  • 22
    • 84886746010 scopus 로고    scopus 로고
    • Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients
    • Garçon, L. et al. Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients. Blood 122, 912-921 (2013).
    • (2013) Blood , vol.122 , pp. 912-921
    • Garçon, L.1
  • 23
    • 84879345901 scopus 로고    scopus 로고
    • Rate-limiting steps in yeast protein translation
    • Shah, P., Ding, Y., Niemczyk, M., Kudla, G. & Plotkin, J.B. Rate-limiting steps in yeast protein translation. Cell 153, 1589-1601 (2013).
    • (2013) Cell , vol.153 , pp. 1589-1601
    • Shah, P.1    Ding, Y.2    Niemczyk, M.3    Kudla, G.4    Plotkin, J.B.5
  • 25
    • 33846449110 scopus 로고    scopus 로고
    • Small-molecule inhibition of the interaction between the translation initiation factors eIF4E and eIF4G
    • Moerke, N.J. et al. Small-molecule inhibition of the interaction between the translation initiation factors eIF4E and eIF4G. Cell 128, 257-267 (2007).
    • (2007) Cell , vol.128 , pp. 257-267
    • Moerke, N.J.1
  • 26
    • 84872617263 scopus 로고    scopus 로고
    • Exaggerated translation causes synaptic and behavioural aberrations associated with autism
    • Santini, E. et al. Exaggerated translation causes synaptic and behavioural aberrations associated with autism. Nature 493, 411-415 (2013).
    • (2013) Nature , vol.493 , pp. 411-415
    • Santini, E.1
  • 27
    • 84872595085 scopus 로고    scopus 로고
    • Autism-related deficits via dysregulated eIF4E-dependent translational control
    • Gkogkas, C.G. et al. Autism-related deficits via dysregulated eIF4E-dependent translational control. Nature 493, 371-377 (2013).
    • (2013) Nature , vol.493 , pp. 371-377
    • Gkogkas, C.G.1
  • 28
    • 5044229348 scopus 로고    scopus 로고
    • Molecular mechanisms of translational control
    • Gebauer, F. & Hentze, M.W. Molecular mechanisms of translational control. Nat. Rev. Mol. Cell Biol. 5, 827-835 (2004).
    • (2004) Nat. Rev. Mol. Cell Biol , vol.5 , pp. 827-835
    • Gebauer, F.1    Hentze, M.W.2
  • 29
    • 33646193306 scopus 로고    scopus 로고
    • Control of mammalian translation by mRNA structure near caps
    • Babendure, J.R., Babendure, J.L., Ding, J.H. & Tsien, R.Y. Control of mammalian translation by mRNA structure near caps. RNA 12, 851-861 (2006).
    • (2006) RNA , vol.12 , pp. 851-861
    • Babendure, J.R.1    Babendure, J.L.2    Ding, J.H.3    Tsien, R.Y.4
  • 30
    • 0026342613 scopus 로고
    • An analysis of vertebrate mRNA sequences: Intimations of translational control
    • Kozak, M. An analysis of vertebrate mRNA sequences: intimations of translational control. J. Cell Biol. 115, 887-903 (1991).
    • (1991) J. Cell Biol , vol.115 , pp. 887-903
    • Kozak, M.1
  • 31
    • 73649102398 scopus 로고    scopus 로고
    • Loss of the Gata1 gene IE exon leads to variant transcript expression and the production of a GATA1 protein lacking the N-terminal domain
    • Kobayashi, E., Shimizu, R., Kikuchi, Y., Takahashi, S. & Yamamoto, M. Loss of the Gata1 gene IE exon leads to variant transcript expression and the production of a GATA1 protein lacking the N-terminal domain. J. Biol. Chem. 285, 773-783 (2010).
    • (2010) J. Biol. Chem , vol.285 , pp. 773-783
    • Kobayashi, E.1    Shimizu, R.2    Kikuchi, Y.3    Takahashi, S.4    Yamamoto, M.5
  • 32
    • 33748744175 scopus 로고    scopus 로고
    • Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia
    • Gazda, H.T. et al. Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia. Stem Cells 24, 2034-2044 (2006).
    • (2006) Stem Cells , vol.24 , pp. 2034-2044
    • Gazda, H.T.1
  • 33
    • 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, P.M. & 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. 175, 1501-1509 (1992).
    • (1992) J. Exp. Med , vol.175 , pp. 1501-1509
    • Lansdorp, P.M.1    Dragowska, W.2
  • 34
    • 27344435774 scopus 로고    scopus 로고
    • Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles
    • Subramanian, A. et al. Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc. Natl. Acad. Sci. USA 102, 15545-15550 (2005).
    • (2005) Proc. Natl. Acad. Sci. USA , vol.102 , pp. 15545-15550
    • Subramanian, A.1
  • 35
    • 38349088899 scopus 로고    scopus 로고
    • Identification of RPS14 as a 5q- syndrome gene by RNA interference screen
    • Ebert, B.L. et al. Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. Nature 451, 335-339 (2008).
    • (2008) Nature , vol.451 , pp. 335-339
    • Ebert, B.L.1
  • 36
    • 84879142151 scopus 로고    scopus 로고
    • Isolation and functional characterization of human erythroblasts at distinct stages: Implications for understanding of normal and disordered erythropoiesis in vivo
    • Hu, J. et al. Isolation and functional characterization of human erythroblasts at distinct stages: implications for understanding of normal and disordered erythropoiesis in vivo. Blood 121, 3246-3253 (2013).
    • (2013) Blood , vol.121 , pp. 3246-3253
    • Hu, J.1
  • 37
    • 84864869261 scopus 로고    scopus 로고
    • Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro
    • Moniz, H. et al. Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro. Cell Death Dis. 3, e356 (2012).
    • (2012) Cell Death Dis , vol.3
    • Moniz, H.1
  • 39
    • 0033922952 scopus 로고    scopus 로고
    • P53-mediated differentiation of the erythroleukemia cell line K562
    • Chylicki, K. et al. p53-mediated differentiation of the erythroleukemia cell line K562. Cell Growth Differ. 11, 315-324 (2000).
    • (2000) Cell Growth Differ , vol.11 , pp. 315-324
    • Chylicki, K.1
  • 40
    • 0016180710 scopus 로고
    • Model for the regulation of mRNA translation applied to haemoglobin synthesis
    • Lodish, H.F. Model for the regulation of mRNA translation applied to haemoglobin synthesis. Nature 251, 385-388 (1974).
    • (1974) Nature , vol.251 , pp. 385-388
    • Lodish, H.F.1
  • 41
    • 57849083996 scopus 로고    scopus 로고
    • Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A
    • Sankaran, V.G. et al. Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science 322, 1839-1842 (2008).
    • (2008) Science , vol.322 , pp. 1839-1842
    • Sankaran, V.G.1
  • 42
    • 8644228649 scopus 로고    scopus 로고
    • Global regulation of erythroid gene expression by transcription factor GATA-1
    • Welch, J.J. et al. Global regulation of erythroid gene expression by transcription factor GATA-1. Blood 104, 3136-3147 (2004).
    • (2004) Blood , vol.104 , pp. 3136-3147
    • Welch, J.J.1
  • 43
    • 33644876958 scopus 로고    scopus 로고
    • TRANSFAC and its module TRANSCompel: Transcriptional gene regulation in eukaryotes
    • Matys, V. et al. TRANSFAC and its module TRANSCompel: transcriptional gene regulation in eukaryotes. Nucleic Acids Res. 34, D108-D110 (2006).
    • (2006) Nucleic Acids Res , vol.34
    • Matys, V.1


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