메뉴 건너뛰기




Volumn 106, Issue 4, 2011, Pages 693-704

Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells

Author keywords

Cell migration; Inherited thrombocytopenia; MYH9 mutations; MYH9 related disease; Non muscle myosin IIA

Indexed keywords

ADENOSINE TRIPHOSPHATASE; COLLAGEN TYPE 1; FIBRINOGEN; MYOSIN IIA; MYOSIN IIA ATPASE; NONMUSCLE MYOSIN HEAVY CHAIN IIA; STROMAL CELL DERIVED FACTOR 1; UNCLASSIFIED DRUG;

EID: 80053205810     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH11-02-0126     Document Type: Article
Times cited : (26)

References (46)
  • 1
    • 0033812573 scopus 로고    scopus 로고
    • The May- Heggllin/Fechtner Syndrome Consortium
    • The May-Hegglin/Fechtner Syndrome Consortium. Mutations in MYH9 result in the May Hegglin anomaly, and Fechtner and Sebastian syndromes
    • The May-Hegglin/Fechtner Syndrome Consortium. Mutations in MYH9 result in the May Hegglin anomaly, and Fechtner and Sebastian syndromes. The May- Heggllin/Fechtner Syndrome Consortium. Nat Genet 2000; 26: 103-105.
    • (2000) Nat Genet , vol.26 , pp. 103-105
  • 2
    • 0034755959 scopus 로고    scopus 로고
    • Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein and Alport-like syndromes
    • Heath KE, Campos-Barros A, Toren A, et al. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein and Alport-like syndromes. Am J Hum Genet 2001; 69: 1033-1045.
    • (2001) Am J Hum Genet , vol.69 , pp. 1033-1045
    • Heath, K.E.1    Campos-Barros, A.2    Toren, A.3
  • 3
    • 0037910378 scopus 로고    scopus 로고
    • MYH9-related disease: May Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness
    • Seri M, Pecci A, Di Bari F, et al. MYH9-related disease: May Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) 2003; 82: 203-215.
    • (2003) Medicine (Baltimore) , vol.82 , pp. 203-215
    • Seri, M.1    Pecci, A.2    di Bari, F.3
  • 4
    • 40549091624 scopus 로고    scopus 로고
    • Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease
    • Pecci A, Panza E, Pujol-Moix N, et al. Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat 2008; 29: 409-417.
    • (2008) Hum Mutat , vol.29 , pp. 409-417
    • Pecci, A.1    Panza, E.2    Pujol-Moix, N.3
  • 5
    • 0034677906 scopus 로고    scopus 로고
    • Myosins: A diverse superfamily
    • Sellers JR. Myosins: a diverse superfamily. Biochim Biophys Acta 2000; 1496: 3-22.
    • (2000) Biochim Biophys Acta , vol.1496 , pp. 3-22
    • Sellers, J.R.1
  • 6
    • 77955918106 scopus 로고    scopus 로고
    • Advances in understanding of the MYH9 disorders
    • Kunishima S, Saito H. Advances in understanding of the MYH9 disorders. Curr Opin Hematol 2010; 17: 405-410.
    • (2010) Curr Opin Hematol , vol.17 , pp. 405-410
    • Kunishima, S.1    Saito, H.2
  • 7
    • 79959848995 scopus 로고    scopus 로고
    • Recent Advances In the Understanding and Management of MYH9-related Inherited Thrombocytopenias
    • Epub ahead of print
    • Balduini CL, Pecci A, Savoia A. Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol 2011; Epub ahead of print.
    • (2011) Br J Haematol
    • Balduini, C.L.1    Pecci, A.2    Savoia, A.3
  • 8
    • 11144356721 scopus 로고    scopus 로고
    • Chemokine-mediated interaction of hematopoietic progenitors with the bone marrow vascular niche is required for thrombopoiesis
    • Avecilla ST, Hattori K, Heissig B, et al. Chemokine-mediated interaction of hematopoietic progenitors with the bone marrow vascular niche is required for thrombopoiesis. Nat Med 2004; 10: 64-71.
    • (2004) Nat Med , vol.10 , pp. 64-71
    • Avecilla, S.T.1    Hattori, K.2    Heissig, B.3
  • 9
    • 31044443970 scopus 로고    scopus 로고
    • The biogenesis of platelets from megakaryocyte proplatelets
    • Patel SR, Hartwig JH, Italiano JE Jr. The biogenesis of platelets from megakaryocyte proplatelets. J Clin Invest 2005; 115:3348-3354.
    • (2005) J Clin Invest , vol.115 , pp. 3348-3354
    • Patel, S.R.1    Hartwig, J.H.2    Italiano Jr., J.E.3
  • 10
    • 33750510895 scopus 로고    scopus 로고
    • A product of their environment: Do megakaryocytes rely on extracellular cues for proplatelet formation?
    • Larson MK, Watson SP. A product of their environment: do megakaryocytes rely on extracellular cues for proplatelet formation? Platelets 2006; 17: 435-440.
    • (2006) Platelets , vol.17 , pp. 435-440
    • Larson, M.K.1    Watson, S.P.2
  • 11
    • 34648826777 scopus 로고    scopus 로고
    • Dynamic visualization of thrombopoiesis within bone marrow
    • Junt T, Schulze H, Chen Z, et al. Dynamic visualization of thrombopoiesis within bone marrow. Science 2007; 317: 1767-1770.
    • (2007) Science , vol.317 , pp. 1767-1770
    • Junt, T.1    Schulze, H.2    Chen, Z.3
  • 12
    • 8744252579 scopus 로고    scopus 로고
    • Differential regulation of actin stress fiber assembly and proplatelet formation by 21 integrin and GPVI in human megakaryocytes
    • Sabri S, Jadrot-Perrus M, Bertoglio J, et al. Differential regulation of actin stress fiber assembly and proplatelet formation by 21 integrin and GPVI in human megakaryocytes. Blood 2004; 104: 3117-3125.
    • (2004) Blood , vol.104 , pp. 3117-3125
    • Sabri, S.1    Jadrot-Perrus, M.2    Bertoglio, J.3
  • 13
    • 33745609531 scopus 로고    scopus 로고
    • Deficiency in the Wiskott-Aldrich protein induces premature proplatelet formation and platelet production in the bone marrow compartment
    • Sabri S, Foudi A, Boukour S, et al. Deficiency in the Wiskott-Aldrich protein induces premature proplatelet formation and platelet production in the bone marrow compartment. Blood 2006; 108: 134-140.
    • (2006) Blood , vol.108 , pp. 134-140
    • Sabri, S.1    Foudi, A.2    Boukour, S.3
  • 14
    • 54149113333 scopus 로고    scopus 로고
    • Adhesive receptors, extracellular proteins, and myosin IIA orchestrate proplatelet formation by human megakaryocytes
    • Balduini A, Pallotta I, Malara A, et al. Adhesive receptors, extracellular proteins, and myosin IIA orchestrate proplatelet formation by human megakaryocytes. J Thromb Haemost 2008; 6: 1900-1907.
    • (2008) J Thromb Haemost , vol.6 , pp. 1900-1907
    • Balduini, A.1    Pallotta, I.2    Malara, A.3
  • 15
    • 77949534952 scopus 로고    scopus 로고
    • Bone marrow osteoblastic niche: A new model to study physiological regulation of megakaryopoiesis
    • Pallotta I, Lovett M, Rice W, Kaplan DL, Balduini A. Bone marrow osteoblastic niche: a new model to study physiological regulation of megakaryopoiesis. PLoS One 2009; 4: e8359.
    • (2009) PLoS One , vol.4
    • Pallotta, I.1    Lovett, M.2    Rice, W.3    Kaplan, D.L.4    Balduini, A.5
  • 16
    • 34248329215 scopus 로고    scopus 로고
    • Proplatelet formation is regulated by the Rho/ ROCK pathway
    • Chang Y, Auradé F, Larbret F, et al. Proplatelet formation is regulated by the Rho/ ROCK pathway. Blood 2007; 109: 4229-4236.
    • (2007) Blood , vol.109 , pp. 4229-4236
    • Chang, Y.1    Auradé, F.2    Larbret, F.3
  • 17
    • 34347390082 scopus 로고    scopus 로고
    • The May-Hegglin anomaly gene Myh9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway
    • Chen Z, Naveiras O, Balduini A, et al. The May-Hegglin anomaly gene Myh9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway. Blood 2007; 100: 171-179.
    • (2007) Blood , vol.100 , pp. 171-179
    • Chen, Z.1    Naveiras, O.2    Balduini, A.3
  • 19
    • 0017636511 scopus 로고
    • Transitions in collagen types during matrix-induced cartilage, bone, and bone marrow formation
    • Reddi AH, Gay R Gay S, Miller EJ. Transitions in collagen types during matrix-induced cartilage, bone, and bone marrow formation. Proc Natl Acad Sci USA 1977; 74: 5589-5592.
    • (1977) Proc Natl Acad Sci USA , vol.74 , pp. 5589-5592
    • Reddi, A.H.1    Gay, R.2    Gay, S.3    Miller, E.J.4
  • 20
    • 67749093040 scopus 로고    scopus 로고
    • Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation
    • Pecci A, Malara A, Badalucco S, et al. Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation. Thromb Haemost 2009; 102: 90-96.
    • (2009) Thromb Haemost , vol.102 , pp. 90-96
    • Pecci, A.1    Malara, A.2    Badalucco, S.3
  • 21
    • 34248341412 scopus 로고    scopus 로고
    • A novel role for PECAM-1 in megakaryocytokinesis and recovery of platelet counts in thrombocytopenic mice
    • Dhanjal TS, Pendaries C, Ross EA, et al. A novel role for PECAM-1 in megakaryocytokinesis and recovery of platelet counts in thrombocytopenic mice. Blood 2007; 109: 4237-4244.
    • (2007) Blood , vol.109 , pp. 4237-4244
    • Dhanjal, T.S.1    Pendaries, C.2    Ross, E.A.3
  • 22
    • 0035124054 scopus 로고    scopus 로고
    • Megakaryocytic differentiation is accompanied by a reduction in cell migratory potential
    • Mathur A, Hong Y, Martin J, Erusalimsky J. Megakaryocytic differentiation is accompanied by a reduction in cell migratory potential. Br J Haematol 2001; 112: 459-465.
    • (2001) Br J Haematol , vol.112 , pp. 459-465
    • Mathur, A.1    Hong, Y.2    Martin, J.3    Erusalimsky, J.4
  • 23
    • 0345040163 scopus 로고    scopus 로고
    • Phenotypic and functional evidence for the expression of CXCR4 receptor during megakaryocytopoiesis
    • Rivière C, Subra F, Cohen-Solal K, et al. Phenotypic and functional evidence for the expression of CXCR4 receptor during megakaryocytopoiesis. Blood 1999; 93: 1511-1523.
    • (1999) Blood , vol.93 , pp. 1511-1523
    • Rivière, C.1    Subra, F.2    Cohen-Solal, K.3
  • 24
    • 2342643498 scopus 로고    scopus 로고
    • A single class II myosin modulates T cell motility and stopping, but not synapse formation
    • Jacobelli J, Chmura SA, Buxton DB, Davis MM, Kummel MF. A single class II myosin modulates T cell motility and stopping, but not synapse formation. Nat Immunol 2004; 5: 531-538.
    • (2004) Nat Immunol , vol.5 , pp. 531-538
    • Jacobelli, J.1    Chmura, S.A.2    Buxton, D.B.3    Davis, M.M.4    Kummel, M.F.5
  • 25
    • 67649969512 scopus 로고    scopus 로고
    • The collagen receptor DDR1 regulates cell spreading and motility by associating with myosin IIA
    • Huang Y, Arora P, McCulloch CA, Vogel WF. The collagen receptor DDR1 regulates cell spreading and motility by associating with myosin IIA. J Cell Sci 2009; 122: 1637-1646.
    • (2009) J Cell Sci , vol.122 , pp. 1637-1646
    • Huang, Y.1    Arora, P.2    McCulloch, C.A.3    Vogel, W.F.4
  • 27
    • 33845993635 scopus 로고    scopus 로고
    • Rho kinase differentially regulates phophorilation of nonmuscle myosin isoforms A and B during cell rounding and migration
    • Sandquist JC, Swenson KI, Demali KA, Burridge K, Means AR. Rho kinase differentially regulates phophorilation of nonmuscle myosin isoforms A and B during cell rounding and migration. J Biol Chem 2006; 281: 35873-35883.
    • (2006) J Biol Chem , vol.281 , pp. 35873-35883
    • Sandquist, J.C.1    Swenson, K.I.2    Demali, K.A.3    Burridge, K.4    Means, A.R.5
  • 28
  • 29
    • 33749503375 scopus 로고    scopus 로고
    • The role of myosin II motor activity in distributing myosin asymmetrically and coupling protrusive activity to cell translocation
    • Kolega J. The role of myosin II motor activity in distributing myosin asymmetrically and coupling protrusive activity to cell translocation. Mol Biol Cell 2006; 17: 4435-4445.
    • (2006) Mol Biol Cell , vol.17 , pp. 4435-4445
    • Kolega, J.1
  • 30
    • 33745859346 scopus 로고    scopus 로고
    • Self-aggregation of fibrillar collagens I and II involves lysine side chains
    • Tenni R, Sonaggere M, Viola M, et al. Self-aggregation of fibrillar collagens I and II involves lysine side chains. Micron 2006; 37: 640-647.
    • (2006) Micron , vol.37 , pp. 640-647
    • Tenni, R.1    Sonaggere, M.2    Viola, M.3
  • 32
    • 0028972041 scopus 로고
    • Regulation of alpha 2 integrin gene expression in cells with megakaryocytic features: A common theme of three necessary elements
    • Zutter MM, Painter AA, Staatz WD, Tsung YL. Regulation of alpha 2 integrin gene expression in cells with megakaryocytic features: a common theme of three necessary elements. Blood 1995; 86: 3006-3014.
    • (1995) Blood , vol.86 , pp. 3006-3014
    • Zutter, M.M.1    Painter, A.A.2    Staatz, W.D.3    Tsung, Y.L.4
  • 33
    • 0032147012 scopus 로고    scopus 로고
    • The alpha-chemokine receptor CXCR4 is expressed on the megakaryocytic lineage from progenitor to platelets and modulates migration and adhesion
    • Wang JF, Liu ZY, Groopman JE. The alpha-chemokine receptor CXCR4 is expressed on the megakaryocytic lineage from progenitor to platelets and modulates migration and adhesion. Blood 1998; 92: 756-764.
    • (1998) Blood , vol.92 , pp. 756-764
    • Wang, J.F.1    Liu, Z.Y.2    Groopman, J.E.3
  • 34
    • 13244262627 scopus 로고    scopus 로고
    • Targeting platelet GPIbalpha transgene expression to human megakaryocytes and forming a complete complex with endogenous GPIbbeta and GPIX
    • Shi Q, Wilcox DA, Morateck PA, et al. Targeting platelet GPIbalpha transgene expression to human megakaryocytes and forming a complete complex with endogenous GPIbbeta and GPIX. J Thromb Haemost 2004; 2: 1989-1997.
    • (2004) J Thromb Haemost , vol.2 , pp. 1989-1997
    • Shi, Q.1    Wilcox, D.A.2    Morateck, P.A.3
  • 35
    • 78651490892 scopus 로고    scopus 로고
    • Production of functional platelet-like particles by the megakaryoblastic DAMI cell line provides a model for platelet biogenesis
    • Lev PR, Goette NP, Glembotsky AC, et al. Production of functional platelet-like particles by the megakaryoblastic DAMI cell line provides a model for platelet biogenesis. Platelets 2011; 22: 26-36.
    • (2011) Platelets , vol.22 , pp. 26-36
    • Lev, P.R.1    Goette, N.P.2    Glembotsky, A.C.3
  • 36
    • 78650879044 scopus 로고    scopus 로고
    • Mutations in the 5' UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2
    • Pippucci T, Savoia A, Perrotta S, et al. Mutations in the 5' UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2. Am J Hum Genet 2011; 88: 115-120.
    • (2011) Am J Hum Genet , vol.88 , pp. 115-120
    • Pippucci, T.1    Savoia, A.2    Perrotta, S.3
  • 37
    • 0031451136 scopus 로고    scopus 로고
    • Identity of original and late passage Dami megakaryocytes with HEL erythroleukemia cells shown by combined cytogenetics and DNA fingerprinting
    • MacLeod RA, Dirks WG, Reid YA, et al. Identity of original and late passage Dami megakaryocytes with HEL erythroleukemia cells shown by combined cytogenetics and DNA fingerprinting. Leukemia 1997; 11: 2032-2038.
    • (1997) Leukemia , vol.11 , pp. 2032-2038
    • Macleod, R.A.1    Dirks, W.G.2    Reid, Y.A.3
  • 38
    • 77955926007 scopus 로고    scopus 로고
    • Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines
    • Panza E, Marini M, Pecci A, et al. Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines. Pathogenetics 2008; 1: 5.
    • (2008) Pathogenetics , vol.1 , pp. 5
    • Panza, E.1    Marini, M.2    Pecci, A.3
  • 39
    • 27744521855 scopus 로고    scopus 로고
    • Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations
    • Pecci A, Canobbio I, Balduini A, et al. Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. Hum Mol Genet 2005; 14: 3169-3178.
    • (2005) Hum Mol Genet , vol.14 , pp. 3169-3178
    • Pecci, A.1    Canobbio, I.2    Balduini, A.3
  • 40
    • 33748189345 scopus 로고    scopus 로고
    • Regulation of proplatelet formation and platelet release by integrin alpha IIb beta3
    • Larson MK, Watson SP. Regulation of proplatelet formation and platelet release by integrin alpha IIb beta3. Blood 2006; 108: 1509-1514.
    • (2006) Blood , vol.108 , pp. 1509-1514
    • Larson, M.K.1    Watson, S.P.2
  • 41
    • 0027999246 scopus 로고
    • Differential localization of myosin- II isozymes in human cultured cells and blood cells
    • Maupin P, Phillips CL, Adelstein RS, Pollard TD. Differential localization of myosin- II isozymes in human cultured cells and blood cells. J Cell Sci 1994; 107: 3077-3090.
    • (1994) J Cell Sci , vol.107 , pp. 3077-3090
    • Maupin, P.1    Phillips, C.L.2    Adelstein, R.S.3    Pollard, T.D.4
  • 42
    • 0037436506 scopus 로고    scopus 로고
    • Dissecting temporal and spatial control of cytokinesis with a myosin II Inhibitor
    • Straight AF, Cheung A, Limouze J, et al. Dissecting temporal and spatial control of cytokinesis with a myosin II Inhibitor. Science 2003; 299: 1743-1747.
    • (2003) Science , vol.299 , pp. 1743-1747
    • Straight, A.F.1    Cheung, A.2    Limouze, J.3
  • 43
    • 65349139574 scopus 로고    scopus 로고
    • Abnormal megakaryocyte morphology and proplatelet formation in mice with megakaryocyte-restricted MYH9 inactivation
    • Eckly A, Strassel C, Freund M, et al. Abnormal megakaryocyte morphology and proplatelet formation in mice with megakaryocyte-restricted MYH9 inactivation. Blood 2009; 113: 3182-3189.
    • (2009) Blood , vol.113 , pp. 3182-3189
    • Eckly, A.1    Strassel, C.2    Freund, M.3
  • 44
    • 42449140234 scopus 로고    scopus 로고
    • Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders
    • Kunishima S, Hamaguchi M, Saito H. Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders. Blood 2008; 111: 3015-3023.
    • (2008) Blood , vol.111 , pp. 3015-3023
    • Kunishima, S.1    Hamaguchi, M.2    Saito, H.3
  • 45
    • 38749134480 scopus 로고    scopus 로고
    • Nonmuscle myosin heavy chain IIA mediates integrin LFA-1 de-adhesion during T lymphocyte migration
    • Morin NA, Oakes PW, Hyun YM, et al. Nonmuscle myosin heavy chain IIA mediates integrin LFA-1 de-adhesion during T lymphocyte migration. J Exp Med 2008; 205: 195-205.
    • (2008) J Exp Med , vol.205 , pp. 195-205
    • Morin, N.A.1    Oakes, P.W.2    Hyun, Y.M.3
  • 46
    • 11144225866 scopus 로고    scopus 로고
    • Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly
    • Franke JD, Dong F, Rickoll WL, et al. Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly. Blood 2005; 105: 161-169.
    • (2005) Blood , vol.105 , pp. 161-169
    • Franke, J.D.1    Dong, F.2    Rickoll, W.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.