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Volumn 124, Issue 2, 2014, Pages 580-591

Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation

Author keywords

[No Author keywords available]

Indexed keywords

5' UNTRANSLATED REGIONS; ADOLESCENT; ADULT; BASE SEQUENCE; BINDING SITES; CELL DIFFERENTIATION; CHROMOSOME BREAKAGE; CHROMOSOME DISORDERS; CORE BINDING FACTOR ALPHA 2 SUBUNIT; ENZYME ACTIVATION; FEMALE; GENE EXPRESSION REGULATION; GENE SILENCING; HUMANS; INFANT; MALE; MAP KINASE SIGNALING SYSTEM; MEGAKARYOCYTES; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PROTO-ONCOGENE PROTEIN C-FLI-1; RECEPTORS, THROMBOPOIETIN; SIGNAL TRANSDUCTION; THROMBOCYTOPENIA; YOUNG ADULT;

EID: 84893875673     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI71861     Document Type: Article
Times cited : (148)

References (39)
  • 1
    • 79959279291 scopus 로고    scopus 로고
    • Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: Analysis of 78 patients from 21 families
    • Noris P, et al. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood. 2011;117(24):6673-6680.
    • (2011) Blood , vol.117 , Issue.24 , pp. 6673-6680
    • Noris, P.1
  • 2
    • 84887332514 scopus 로고    scopus 로고
    • ANKRD26-related thrombocytopenia myeloid malignancies
    • Noris P, et al. ANKRD26-related thrombocytopenia myeloid malignancies. Blood. 2013; 122(11):1987-1989.
    • (2013) Blood , vol.122 , Issue.11 , pp. 1987-1989
    • Noris, P.1
  • 3
    • 0033361888 scopus 로고    scopus 로고
    • An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p
    • Savoia A, et al. An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p. Am J Hum Genet. 1999;65(5):1401-1405.
    • (1999) Am J Hum Genet. , vol.65 , Issue.5 , pp. 1401-1405
    • Savoia, A.1
  • 4
    • 0034234637 scopus 로고    scopus 로고
    • Autosomal dominant thrombocytopenia: Incomplete megakaryocyte differentiation linkage to human chromosome 10
    • Drachman JG, Jarvik GP, Mehaffey MG. Autosomal dominant thrombocytopenia: incomplete megakaryocyte differentiation linkage to human chromosome 10. Blood. 2000;96(1):118-125.
    • (2000) Blood , vol.96 , Issue.1 , pp. 118-125
    • Drachman, J.G.1    Jarvik, G.P.2    Mehaffey, M.G.3
  • 5
    • 78650879044 scopus 로고    scopus 로고
    • Mutations in the 5βUTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2
    • Pippucci T, et al. Mutations in the 5βUTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet. 2011; 88(1):115-120.
    • (2011) Am J Hum Genet. , vol.88 , Issue.1 , pp. 115-120
    • Pippucci, T.1
  • 6
    • 84873287311 scopus 로고    scopus 로고
    • Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombocytopenia
    • Necchi V, et al. Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombocytopenia. Thromb Haemost. 2013;109(2):263-271.
    • (2013) Thromb Haemost. , vol.109 , Issue.2 , pp. 263-271
    • Necchi, V.1
  • 7
    • 32444442787 scopus 로고    scopus 로고
    • Duplication and extensive remodeling shaped POTE family genes encoding proteins containing ankyrin repeat and coiled coil domains
    • Hahn Y, Bera TK, Pastan IH, Lee B. Duplication and extensive remodeling shaped POTE family genes encoding proteins containing ankyrin repeat and coiled coil domains. Gene. 2006;366(2):238-245.
    • (2006) Gene. , vol.366 , Issue.2 , pp. 238-245
    • Hahn, Y.1    Bera, T.K.2    Pastan, I.H.3    Lee, B.4
  • 8
    • 80054695640 scopus 로고    scopus 로고
    • Partial inactivation of Ankrd26 causes diabetes with enhanced insulin responsiveness of adipose tissue in mice
    • Raciti GA, Bera TK, Gavrilova O, Pastan I. Partial inactivation of Ankrd26 causes diabetes with enhanced insulin responsiveness of adipose tissue in mice. Diabetologia. 2011;54(11):2911-2922.
    • (2011) Diabetologia. , vol.54 , Issue.11 , pp. 2911-2922
    • Raciti, G.A.1    Bera, T.K.2    Gavrilova, O.3    Pastan, I.4
  • 9
    • 79961000600 scopus 로고    scopus 로고
    • Ankrd26 gene disruption enhances adipogenesis of mouse embryonic fibroblasts
    • Fei Z, Bera TK, Liu X, Xiang L, Pastan I. Ankrd26 gene disruption enhances adipogenesis of mouse embryonic fibroblasts. J Biol Chem. 2011; 286(31):27761-27768.
    • (2011) J Biol Chem. , vol.286 , Issue.31 , pp. 27761-27768
    • Fei, Z.1    Bera, T.K.2    Liu, X.3    Xiang, L.4    Pastan, I.5
  • 10
    • 80955137934 scopus 로고    scopus 로고
    • Transcription factor binding predictions using TRAP for the analysis of ChIP-seq data and regulatory SNPs
    • Thomas-Chollier M, et al. Transcription factor binding predictions using TRAP for the analysis of ChIP-seq data and regulatory SNPs. Nat Protoc. 2011; 6(12):1860-1869.
    • (2011) Nat Protoc. , vol.6 , Issue.12 , pp. 1860-1869
    • Thomas-Chollier, M.1
  • 11
    • 25444517056 scopus 로고    scopus 로고
    • MAPPER: A search engine for the computational identification of putative transcription factor binding sites in multiple genomes
    • Marinescu VD, Kohane IS, Riva A. MAPPER: a search engine for the computational identification of putative transcription factor binding sites in multiple genomes. BMC Bioinformatics. 2005;6:79.
    • (2005) BMC Bioinformatics. , vol.6 , pp. 79
    • Marinescu, V.D.1    Kohane, I.S.2    Riva, A.3
  • 12
    • 67651207678 scopus 로고    scopus 로고
    • Differentiation-dependent interactions between RUNX-1 and FLI-1 during megakaryocyte development
    • Huang H, et al. Differentiation-dependent interactions between RUNX-1 and FLI-1 during megakaryocyte development. Mol Cell Biol. 2009; 29(15):4103-4115.
    • (2009) Mol Cell Biol. , vol.29 , Issue.15 , pp. 4103-4115
    • Huang, H.1
  • 13
    • 0032582678 scopus 로고    scopus 로고
    • Direct inhibition of cyclooxygenase-1 and -2 by the kinase inhibitors SB 203580 and PD 98059. SB 203580 also inhibits thromboxane synthase
    • Börsch-Haubold AG, Pasquet S, Watson SP. Direct inhibition of cyclooxygenase-1 and -2 by the kinase inhibitors SB 203580 and PD 98059. SB 203580 also inhibits thromboxane synthase. J Biol Chem. 1998;273(44):28766- 28772.
    • (1998) J Biol Chem. , vol.273 , Issue.44 , pp. 28766-28772
    • Börsch-Haubold, A.G.1    Pasquet, S.2    Watson, S.P.3
  • 14
    • 8744252579 scopus 로고    scopus 로고
    • Differential regulation of actin stress fiber assembly and proplatelet formation by α2β1 integrin and GPVI in human megakaryocytes
    • Sabri S, et al. Differential regulation of actin stress fiber assembly and proplatelet formation by α2β1 integrin and GPVI in human megakaryocytes. Blood. 2004;104(10):3117-3125.
    • (2004) Blood , vol.104 , Issue.10 , pp. 3117-3125
    • Sabri, S.1
  • 15
    • 77957896694 scopus 로고    scopus 로고
    • A senescence-like cell-cycle arrest occurs during megakaryocytic maturation: Implications for physiological and pathological megakaryocytic proliferation
    • pii:e1000476
    • Besancenot R, et al. A senescence-like cell-cycle arrest occurs during megakaryocytic maturation: implications for physiological and pathological megakaryocytic proliferation. PLoS Biol. 2010; 8(9).pii:e1000476.
    • (2010) PLoS Biol. , vol.8 , Issue.9
    • Besancenot, R.1
  • 16
    • 0034772963 scopus 로고    scopus 로고
    • Simultaneous signalling through c-mpl, c-kit and CXCR4 enhances the proliferation and differentiation of human megakaryocyte progenitors: Possible roles of the PI3-K, PKC, and MAPK pathways
    • Minamiguchi H, et al. Simultaneous signalling through c-mpl, c-kit and CXCR4 enhances the proliferation and differentiation of human megakaryocyte progenitors: possible roles of the PI3-K, PKC, and MAPK pathways. Br J Haematol. 2001; 115(1):175-185.
    • (2001) Br J Haematol. , vol.115 , Issue.1 , pp. 175-185
    • Minamiguchi, H.1
  • 17
    • 0029832180 scopus 로고    scopus 로고
    • Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome
    • Ludlow LB, et al. Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. J Biol Chem. 1996;271(36):22076-22080.
    • (1996) J Biol Chem. , vol.271 , Issue.36 , pp. 22076-22080
    • Ludlow, L.B.1
  • 18
    • 84863393160 scopus 로고    scopus 로고
    • Compound inheritance of a lowfrequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
    • Albers CA, et al. Compound inheritance of a lowfrequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet. 2012;44(4):435-439.
    • (2012) Nat Genet. , vol.44 , Issue.4 , pp. 435-439
    • Albers, C.A.1
  • 19
    • 79955883317 scopus 로고    scopus 로고
    • Genome-wide analysis of simultaneous GATA1/2, RUNX1, FLI1, and SCL binding in megakaryocytes identifies hematopoietic regulators
    • Tijssen MR, et al. Genome-wide analysis of simultaneous GATA1/2, RUNX1, FLI1, and SCL binding in megakaryocytes identifies hematopoietic regulators. Dev Cell. 2011;20(5):597-609.
    • (2011) Dev Cell , vol.20 , Issue.5 , pp. 597-609
    • Tijssen, M.R.1
  • 20
    • 84859196315 scopus 로고    scopus 로고
    • RUNX1-induced silencing of non-muscle myosin heavy chain IIB contributes to megakaryocyte polyploidization
    • Lordier L, et al. RUNX1-induced silencing of non-muscle myosin heavy chain IIB contributes to megakaryocyte polyploidization. Nat Commun. 2012;3:717.
    • (2012) Nat Commun. , vol.3 , pp. 717
    • Lordier, L.1
  • 21
    • 84866878349 scopus 로고    scopus 로고
    • MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations
    • Antony-Debré I, et al. MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations. Blood. 2012;120(13):2719-2722.
    • (2012) Blood , vol.120 , Issue.13 , pp. 2719-2722
    • Antony-Debré, I.1
  • 22
    • 84863012512 scopus 로고    scopus 로고
    • Direct recruitment of polycomb repressive complex 1 to chromatin by core binding transcription factors
    • Yu M, et al. Direct recruitment of polycomb repressive complex 1 to chromatin by core binding transcription factors. Mol Cell. 2012;45(3):330-343.
    • (2012) Mol Cell , vol.45 , Issue.3 , pp. 330-343
    • Yu, M.1
  • 23
    • 0033199619 scopus 로고    scopus 로고
    • Megakaryocyte growth and development factor-induced proliferation and differentiation are regulated by the mitogen-activated protein kinase pathway in primitive cord blood hematopoietic progenitors
    • Fichelson S, et al. Megakaryocyte growth and development factor-induced proliferation and differentiation are regulated by the mitogen-activated protein kinase pathway in primitive cord blood hematopoietic progenitors. Blood. 1999; 94(5):1601-1613.
    • (1999) Blood , vol.94 , Issue.5 , pp. 1601-1613
    • Fichelson, S.1
  • 24
    • 0033566712 scopus 로고    scopus 로고
    • Thrombopoietin-induced activation of the mitogen-activated protein kinase (MAPK) pathway in normal megakaryocytes: Role in endomitosis
    • Rojnuckarin P, Drachman JG, Kaushansky K. Thrombopoietin-induced activation of the mitogen-activated protein kinase (MAPK) pathway in normal megakaryocytes: role in endomitosis. Blood. 1999;94(4):1273-1282.
    • (1999) Blood , vol.94 , Issue.4 , pp. 1273-1282
    • Rojnuckarin, P.1    Drachman, J.G.2    Kaushansky, K.3
  • 25
    • 33645070791 scopus 로고    scopus 로고
    • Inhibition of TPO-induced MEK or mTOR activity induces opposite effects on the ploidy of human differentiating megakaryocytes
    • Guerriero R, et al. Inhibition of TPO-induced MEK or mTOR activity induces opposite effects on the ploidy of human differentiating megakaryocytes. J Cell Sci. 2006;119(pt 4):744-752.
    • (2006) J Cell Sci. , vol.119 , Issue.PART 4 , pp. 744-752
    • Guerriero, R.1
  • 26
    • 0031000626 scopus 로고    scopus 로고
    • Megakaryocytic differentiation induced by constitutive activation of mitogenactivated protein kinase kinase
    • Whalen AM, Galasinski SC, Shapiro PS, Nahreini TS, Ahn NG. Megakaryocytic differentiation induced by constitutive activation of mitogenactivated protein kinase kinase. Mol Cell Biol. 1997; 17(4):1947-1958.
    • (1997) Mol Cell Biol. , vol.17 , Issue.4 , pp. 1947-1958
    • Whalen, A.M.1    Galasinski, S.C.2    Shapiro, P.S.3    Nahreini, T.S.4    Ahn, N.G.5
  • 27
    • 0031825731 scopus 로고    scopus 로고
    • A role for the MEK/MAPK pathway in PMA-induced cell cycle arrest: Modulation of megakaryocytic differentiation of K562 cells
    • Herrera R, Hubbell S, Decker S, Petruzzelli L. A role for the MEK/MAPK pathway in PMA-induced cell cycle arrest: modulation of megakaryocytic differentiation of K562 cells. Exp Cell Res. 1998; 238(2):407-414.
    • (1998) Exp Cell Res. , vol.238 , Issue.2 , pp. 407-414
    • Herrera, R.1    Hubbell, S.2    Decker, S.3    Petruzzelli, L.4
  • 28
    • 0030866934 scopus 로고    scopus 로고
    • Sustained activation of the extracellular signal-regulated kinase/mitogen-activated protein kinase pathway is required for megakaryocytic differentiation of K562 cells
    • Racke FK, Lewandowska K, Goueli S, Goldfarb AN. Sustained activation of the extracellular signal-regulated kinase/mitogen-activated protein kinase pathway is required for megakaryocytic differentiation of K562 cells. J Biol Chem. 1997;272(37):23366-23370.
    • (1997) J Biol Chem. , vol.272 , Issue.37 , pp. 23366-23370
    • Racke, F.K.1    Lewandowska, K.2    Goueli, S.3    Goldfarb, A.N.4
  • 29
    • 0030871662 scopus 로고    scopus 로고
    • Control of thrombopoietininduced megakaryocytic differentiation by the mitogen-activated protein kinase pathway
    • Rouyez MC, Boucheron C, Gisselbrecht S, Dusanter-Fourt I, Porteu F. Control of thrombopoietininduced megakaryocytic differentiation by the mitogen-activated protein kinase pathway. Mol Cell Biol. 1997;17(9):4991-5000.
    • (1997) Mol Cell Biol. , vol.17 , Issue.9 , pp. 4991-5000
    • Rouyez, M.C.1    Boucheron, C.2    Gisselbrecht, S.3    Dusanter-Fourt, I.4    Porteu, F.5
  • 30
    • 70249121773 scopus 로고    scopus 로고
    • Critical role for ERK1/2 in bone marrow and fetal liverderived primary megakaryocyte differentiation, motility, and proplatelet formation
    • Mazharian A, Watson SP, Séverin S. Critical role for ERK1/2 in bone marrow and fetal liverderived primary megakaryocyte differentiation, motility, and proplatelet formation. Exp Hematol. 2009;37(10):1238-1249.
    • (2009) Exp Hematol. , vol.37 , Issue.10 , pp. 1238-1249
    • Mazharian, A.1    Watson, S.P.2    Séverin, S.3
  • 31
    • 84861600708 scopus 로고    scopus 로고
    • ANKRD26 and its interacting partners TRIO, GPS2, HMMR and DIPA regulate adipogenesis in 3T3-L1 cells
    • Liu XF, et al. ANKRD26 and its interacting partners TRIO, GPS2, HMMR and DIPA regulate adipogenesis in 3T3-L1 cells. PLoS One. 2012;7(5):e38130.
    • (2012) PLoS One , vol.7 , Issue.5
    • Liu, X.F.1
  • 32
    • 84863673204 scopus 로고    scopus 로고
    • Improved survival with MEK inhibition in BRAF-mutated melanoma
    • Flaherty KT, et al. Improved survival with MEK inhibition in BRAF-mutated melanoma. N Engl J Med. 2012;367(2):107-114.
    • (2012) N Engl J Med. , vol.367 , Issue.2 , pp. 107-114
    • Flaherty, K.T.1
  • 33
    • 0027241138 scopus 로고
    • Effects of the recombinant hematopoietic growth factors interleukin-3, interleukin-6, stem cell factor, and leukemia inhibitory factor on the megakaryocytic differentiation of CD34+ cells
    • Debili N, Massé JM, Katz A, Guichard J, Breton-Gorius J, Vainchenker W. Effects of the recombinant hematopoietic growth factors interleukin-3, interleukin-6, stem cell factor, and leukemia inhibitory factor on the megakaryocytic differentiation of CD34+ cells. Blood. 1993;82(1):84-95.
    • (1993) Blood , vol.82 , Issue.1 , pp. 84-95
    • Debili, N.1    Massé, J.M.2    Katz, A.3    Guichard, J.4    Breton-Gorius, J.5    Vainchenker, W.6
  • 34
    • 59849107667 scopus 로고    scopus 로고
    • Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano
    • Balduini A, et al. Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano. J Thromb Haemost. 2009;7(3):478-484.
    • (2009) J Thromb Haemost. , vol.7 , Issue.3 , pp. 478-484
    • Balduini, A.1
  • 35
    • 84866858939 scopus 로고    scopus 로고
    • Dysmegakaryopoiesis of FPD/ AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression
    • Bluteau D, et al. Dysmegakaryopoiesis of FPD/ AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression. Blood. 2012;120(13):2708-2718.
    • (2012) Blood , vol.120 , Issue.13 , pp. 2708-2718
    • Bluteau, D.1
  • 36
    • 43249121384 scopus 로고    scopus 로고
    • P19INK4D links endomitotic arrest and megakaryocyte maturation and is regulated by AML-1
    • Gilles L, et al. P19INK4D links endomitotic arrest and megakaryocyte maturation and is regulated by AML-1. Blood. 2008;111(8):4081-4091.
    • (2008) Blood , vol.111 , Issue.8 , pp. 4081-4091
    • Gilles, L.1
  • 37
    • 83455210382 scopus 로고    scopus 로고
    • Down-regulation of the RUNX1-target gene NR4A3 contributes to hematopoiesis deregulation in familial platelet disorder/acute myelogenous leukemia
    • Bluteau D, et al. Down-regulation of the RUNX1-target gene NR4A3 contributes to hematopoiesis deregulation in familial platelet disorder/acute myelogenous leukemia. Blood. 2011;118(24):6310-6320.
    • (2011) Blood , vol.118 , Issue.24 , pp. 6310-6320
    • Bluteau, D.1
  • 38
    • 10744224146 scopus 로고    scopus 로고
    • Spontaneous STAT5 activation induces growth factor independence in idiopathic myelofibrosis: Possible relationship with FKBP51 overexpression
    • Komura E, et al. Spontaneous STAT5 activation induces growth factor independence in idiopathic myelofibrosis: possible relationship with FKBP51 overexpression. Exp Hematol. 2003;31(7):622-630.
    • (2003) Exp Hematol. , vol.31 , Issue.7 , pp. 622-630
    • Komura, E.1
  • 39
    • 33750623252 scopus 로고    scopus 로고
    • Impaired megakaryocytopoiesis in type 2B von Willebrand disease with severe thrombocytopenia
    • Nurden P, et al. Impaired megakaryocytopoiesis in type 2B von Willebrand disease with severe thrombocytopenia. Blood. 2006;108(8):2587-2595.
    • (2006) Blood , vol.108 , Issue.8 , pp. 2587-2595
    • Nurden, P.1


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