{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T22:44:32Z","timestamp":1790635472420,"version":"4.1.0"},"reference-count":99,"publisher":"Tohoku University Medical Press","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Tohoku J. Exp. Med."],"published-print":{"date-parts":[[2017]]},"DOI":"10.1620\/tjem.242.83","type":"journal-article","created":{"date-parts":[[2017,5,30]],"date-time":"2017-05-30T18:16:02Z","timestamp":1496168162000},"page":"83-91","source":"Crossref","is-referenced-by-count":80,"title":["GATA Transcription Factors: Basic Principles and Related Human Disorders"],"prefix":"10.1620","volume":"242","author":[{"given":"Tohru","family":"Fujiwara","sequence":"first","affiliation":[{"name":"Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"622","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"Amann, J.M., Nip, J., Strom, D.K., Lutterbach, B., Harada, H., Lenny, N., Downing, J.R., Meyers, S. &amp; Hiebert, S.W. (2001) ETO, a target of t(8;21) in acute leukemia, makes distinct contacts with multiple histone deacetylases and binds mSin3A through its oligomerization domain. <i>Mol. Cell. Biol.<\/i>, 21, 6470-6483.","DOI":"10.1128\/MCB.21.19.6470-6483.2001"},{"key":"2","doi-asserted-by":"crossref","unstructured":"Antonchuk, J., Sauvageau, G. &amp; Humphries, R.K. (2002) HOXB4-induced expansion of adult hematopoietic stem cells ex vivo. <i>Cell<\/i>, 109, 39-45.","DOI":"10.1016\/S0092-8674(02)00697-9"},{"key":"3","doi-asserted-by":"crossref","unstructured":"Bacigalupo, A., Bruno, B., Saracco, P., Di Bona, E., Locasciulli, A., Locatelli, F., Gabbas, A., Dufour, C., Arcese, W., Testi, G., Broccia, G., Carotenuto, M., Coser, P., Barbui, T., Leoni, P. &amp; Ferster, A. (2000) Antilymphocyte globulin, cyclosporine, prednisolone, and granulocyte colony-stimulating factor for severe aplastic anemia: an update of the GITMO\/EBMT study on 100 patients. <i>Blood<\/i>, 95, 1931-1934.","DOI":"10.1182\/blood.V95.6.1931"},{"key":"4","unstructured":"Balduini, C.L., Pecci, A., Loffredo, G., Izzo, P., Noris, P., Grosso, M., Bergamaschi, G., Rosti, V., Magrini, U., Ceresa, I.F., Conti, V., Poggi, V. &amp; Savoia, A. (2004) Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis. <i>Thromb. Haemost.<\/i>, 91, 129-140."},{"key":"5","doi-asserted-by":"crossref","unstructured":"B\u00f6d\u00f6r, C., Renneville, A., Smith, M., Charazac, A., Iqbal, S., Etancelin, P., Cavenagh, J., Barnett, M.J., Kramarzov\u00e1, K., Krishnan, B., Matolcsy, A., Preudhomme, C., Fitzgibbon, J. &amp; Owen, C. (2012) Germ-line <i>GATA2<\/i> p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and <i>ASXL1<\/i> mutation demonstrating rapid onset and poor survival. <i>Haematologica<\/i>, 97, 890-894.","DOI":"10.3324\/haematol.2011.054361"},{"key":"6","unstructured":"Bresnick, E.H., Lee, H.Y., Fujiwara, T., Johnson, K.D. &amp; Keles, S. (2010) GATA switches as developmental drivers. <i>J. Biol. Chem.<\/i>, 285, 31087-31093."},{"key":"7","unstructured":"Campagna, D.R., de Bie, C.I., Schmitz-Abe, K., Sweeney, M., Sendamarai, A.K., Schmidt, P.J., Heeney, M.M., Yntema, H.G., Kannengiesser, C., Grandchamp, B., Niemeyer, C.M., Knoers, N.V., Swart, S., Marron, G., van Wijk, R., et al. (2014) X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. <i>Am. J. Hematol.<\/i>, 89, 315-319."},{"key":"8","doi-asserted-by":"crossref","unstructured":"Churpek, J.E., Pyrtel, K., Kanchi, K.L., Shao, J., Koboldt, D., Miller, C.A., Shen, D., Fulton, R., O\u2019Laughlin, M., Fronick, C. &amp; Pusic, I. (2015) Genomic analysis of germ line and somatic variants in familial myelodysplasia\/acute myeloid leukemia. <i>Blood<\/i>, 126, 2484-2490.","DOI":"10.1182\/blood-2015-04-641100"},{"key":"9","unstructured":"Collin, M., Dickinson, R. &amp; Bigley, V. (2015) Haematopoietic and immune defects associated with GATA2 mutation. <i>Br. J. Haematol.<\/i>, 169, 173-187."},{"key":"10","doi-asserted-by":"crossref","unstructured":"Crispino, J.D. &amp; Horwitz, M.S. (2017) GATA factor mutations in hematologic disease. <i>Blood<\/i>, 129, 2103-2110.","DOI":"10.1182\/blood-2016-09-687889"},{"key":"11","unstructured":"Di Pierro, E., Russo, R., Karakas, Z., Brancaleoni, V., Gambale, A., Kurt, I., Winter, S.S., Granata, F., Czuchlewski, D.R., Langella, C., Lolascon, A. &amp; Cappellini, M.D. (2015) Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis. <i>Eur. J. Haematol.<\/i>, 94, 491-497."},{"key":"12","doi-asserted-by":"crossref","unstructured":"Dickinson, R.E., Griffin, H., Bigley, V., Reynard, L.N., Hussain, R., Haniffa, M., Lakey, J.H., Rahman, T., Wang, X.N., McGovern, N., Pagan, S., Cookson, S., McDonald, D., Chua, I., Wallis, J., et al. (2011) Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. <i>Blood<\/i>, 118, 2656-2658.","DOI":"10.1182\/blood-2011-06-360313"},{"key":"13","doi-asserted-by":"crossref","unstructured":"Dumitriu, B., Feng, X., Townsley, D.M., Ueda, Y., Yoshizato, T., Calado, R.T., Yang, Y., Wakabayashi, Y., Kajigaya, S., Ogawa, S., Zhu, J. &amp; Young, N.S. (2015) Telomere attrition and candidate gene mutations preceding monosomy 7 in aplastic anemia. <i>Blood<\/i>, 125, 706-709.","DOI":"10.1182\/blood-2014-10-607572"},{"key":"14","doi-asserted-by":"crossref","unstructured":"Evans, T., Reitman, M. &amp; Felsenfeld, G. (1988) An erythrocyte-specific DNA-binding factor recognizes a regulatory sequence common to all chicken globin genes. <i>Proc. Natl. Acad. Sci. USA<\/i>, 85, 5976-5980.","DOI":"10.1073\/pnas.85.16.5976"},{"key":"15","doi-asserted-by":"crossref","unstructured":"Ezoe, S., Matsumura, I., Nakata, S., Gale, K., Ishihara, K., Minegishi, N., Machii, T., Kitamura, T., Yamamoto, M., Enver, T. &amp; Kanakura, Y. (2002) GATA-2\/estrogen receptor chimera regulates cytokine-dependent growth of hematopoietic cells through accumulation of p21<sup>WAF1<\/sup> and p27<sup>Kip1<\/sup> proteins. <i>Blood<\/i>, 100, 3512-3520.","DOI":"10.1182\/blood-2002-04-1177"},{"key":"16","unstructured":"Frenette, P.S., Pinho, S., Lucas, D. &amp; Scheiermann, C. (2013) Mesenchymal stem cell: keystone of the hematopoietic stem cell niche and a stepping-stone for regenerative medicine. <i>Annu. Rev. Immunol.<\/i>, 31, 285-316."},{"key":"17","doi-asserted-by":"crossref","unstructured":"Freson, K., Devriendt, K., Matthijs, G., Van Hoof, A., De Vos, R., Thys, C., Minner, K., Hoylaerts, M.F., Vermylen, J. &amp; Van Geet, C. (2001) Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel <i>GATA1<\/i> mutation. <i>Blood<\/i>, 98, 85-92.","DOI":"10.1182\/blood.V98.1.85"},{"key":"18","unstructured":"Fujimaki, S., Harigae, H., Sugawara, T., Takasawa, N., Sasaki, T. &amp; Kaku, M. (2001) Decreased expression of transcription factor GATA-2 in haematopoietic stem cells in patients with aplastic anaemia. <i>Br. J. Haematol.<\/i>, 113, 52-57."},{"key":"19","unstructured":"Fujiwara, T., Alqadi, Y.W., Okitsu, Y., Fukuhara, N., Onishi, Y., Ishizawa, K. &amp; Harigae, H. (2013) Role of transcriptional corepressor ETO2 in erythroid cells. <i>Exp. Hematol.<\/i>, 41, 303-315."},{"key":"20","unstructured":"Fujiwara, T., Fukuhara, N., Funayama, R., Nariai, N., Kamata, M., Nagashima, T., Kojima, K., Onishi, Y., Sasahara, Y., Ishizawa, K., Nagasaki, M., Nakayama, K. &amp; Harigae, H. (2014) Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia. <i>Ann. Hematol.<\/i>, 93, 1515-1522."},{"key":"21","unstructured":"Fujiwara, T. &amp; Harigae, H. (2013) Pathophysiology and genetic mutations in congenital sideroblastic anemia. <i>Pediatr. Int.<\/i>, 55, 675-679."},{"key":"22","doi-asserted-by":"crossref","unstructured":"Fujiwara, T., Lee, H.Y., Sanalkumar, R. &amp; Bresnick, E.H. (2010) Building multifunctionality into a complex containing master regulators of hematopoiesis. <i>Proc. Natl. Acad. Sci. USA<\/i>, 107, 20429-20434.","DOI":"10.1073\/pnas.1007804107"},{"key":"23","unstructured":"Fujiwara, T., O\u2019Geen, H., Keles, S., Blahnik, K., Linnemann, A.K., Kang, Y.A., Choi, K., Farnham, P.J. &amp; Bresnick, E.H. (2009) Discovering hematopoietic mechanisms through genome-wide analysis of GATA factor chromatin occupancy. <i>Mol. Cell<\/i>, 36, 667-681."},{"key":"24","unstructured":"Fujiwara, T., Sasaki, K., Saito, K., Hatta, S., Ichikawa, S., Kobayashi, M., Okitsu, Y., Fukuhara, N., Onishi, Y. &amp; Harigae, H. (2017) Forced FOG1 expression in erythroleukemia cells: Induction of erythroid genes and repression of myelo-lymphoid transcription factor PU. 1. <i>Biochem. Biophys. Res. Commun.<\/i>, 485, 380-387."},{"key":"25","doi-asserted-by":"crossref","unstructured":"Fujiwara, T., Yokoyama, H., Okitsu, Y., Kamata, M., Fukuhara, N., Onishi, Y., Fujimaki, S., Takahashi, S., Ishizawa, K., Bresnick, E.H. &amp; Harigae, H. (2012) Gene expression profiling identifies HOXB4 as a direct downstream target of GATA-2 in human CD34+ hematopoietic cells. <i>PLoS One<\/i>, 7, e40959.","DOI":"10.1371\/journal.pone.0040959"},{"key":"26","doi-asserted-by":"crossref","unstructured":"Fujiwara, Y., Browne, C.P., Cunniff, K., Goff, S.C. &amp; Orkin, S.H. (1996) Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1. <i>Proc. Natl. Acad. Sci. USA<\/i>, 93, 12355-12358.","DOI":"10.1073\/pnas.93.22.12355"},{"key":"27","doi-asserted-by":"crossref","unstructured":"Fujiwara, Y., Chang, A.N., Williams, A.M. &amp; Orkin, S.H. (2004) Functional overlap of GATA-1 and GATA-2 in primitive hematopoietic development. <i>Blood<\/i>, 103, 583-585.","DOI":"10.1182\/blood-2003-08-2870"},{"key":"28","unstructured":"Gao, J., Chen, Y.H. &amp; Peterson, L.C. (2015) GATA family transcriptional factors: emerging suspects in hematologic disorders. <i>Exp. Hematol. Oncol.<\/i>, 4, 28."},{"key":"29","unstructured":"Gilles, L., Arslan, A.D., Marinaccio, C., Wen, Q.J., Arya, P., McNulty, M., Yang, Q., Zhao, J.C., Konstantinoff, K., Lasho, T., Pardanani, A., Stein, B., Plo, I., Sundaravel, S., Wickrema, A., et al. (2017) Downregulation of GATA1 drives impaired hematopoiesis in primary myelofibrosis. <i>J. Clin. Invest.<\/i>, 127, 1316-1320."},{"key":"30","doi-asserted-by":"crossref","unstructured":"Groet, J., McElwaine, S., Spinelli, M., Rinaldi, A., Burtscher, I., Mulligan, C., Mensah, A., Cavani, S., Dagna-Bricarelli, F., Basso, G., Cotter, F.E. &amp; Nizetic, D. (2003) Acquired mutations in <i>GATA1<\/i> in neonates with Down\u2019s syndrome with transient myeloid disorder. <i>Lancet<\/i>, 361, 1617-1620.","DOI":"10.1016\/S0140-6736(03)13266-7"},{"key":"31","doi-asserted-by":"crossref","unstructured":"Gr\u00f6schel, S., Sanders, M.A., Hoogenboezem, R., de Wit, E., Bouwman, B.A., Erpelinck, C., van der Velden, V.H., Havermans, M., Avellino, R., van Lom, K., Rombouts, E.J., van Duin, M., D\u00f6hner, K., Beverloo, H.B., Bradner, J.E., et al. (2014) A single oncogenic enhancer rearrangement causes concomitant <i>EVI1<\/i> and <i>GATA2<\/i> deregulation in leukemia. <i>Cell<\/i>, 157, 369-381.","DOI":"10.1016\/j.cell.2014.02.019"},{"key":"32","unstructured":"Grossman, J., Cuellar-Rodriguez, J., Gea-Banacloche, J., Zerbe, C., Calvo, K., Hughes, T., Hakim, F., Cole, K., Parta, M., Freeman, A., Holland, S.M. &amp; Hickstein, D.D. (2014) Nonmyeloablative allogeneic hematopoietic stem cell transplantation for GATA2 deficiency. <i>Biol. Blood Marrow Transplant.<\/i>, 20, 1940-1948."},{"key":"33","unstructured":"Hahn, C.N., Chong, C.E., Carmichael, C.L., Wilkins, E.J., Brautigan, P.J., Li, X.C., Babic, M., Lin, M., Carmagnac, A., Lee, Y.K., Kok, C.H., Gagliardi, L., Friend, K.L., Ekert, P.G., Butcher, C.M. et al. (2011) Heritable <i>GATA2<\/i> mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. <i>Nat. Genet.<\/i>, 43, 1012-1017."},{"key":"34","doi-asserted-by":"crossref","unstructured":"Harigae, H., Xu, G., Sugawara, T., Ishikawa, I., Toki, T. &amp; Ito, E. (2004) The <i>GATA1<\/i> mutation in an adult patient with acute megakaryoblastic leukemia not accompanying Down syndrome. <i>Blood<\/i>, 103, 3242-3243.","DOI":"10.1182\/blood-2004-01-0016"},{"key":"35","unstructured":"Hasegawa, A., Kaneko, H., Ishihara, D., Nakamura, M., Watanabe, A., Yamamoto, M., Trainor, C.D. &amp; Shimizu, R. (2016) GATA1 Binding Kinetics on Conformation-Specific Binding Sites Elicit Differential Transcriptional Regulation. <i>Mol. Cell. Biol.<\/i>, 36, 2151-2167."},{"key":"36","doi-asserted-by":"crossref","unstructured":"Hitzler, J.K., Cheung, J., Li, Y., Scherer, S.W. &amp; Zipursky, A. (2003) GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome. <i>Blood<\/i>, 101, 4301-4304.","DOI":"10.1182\/blood-2003-01-0013"},{"key":"37","doi-asserted-by":"crossref","unstructured":"Hollanda, L.M., Lima, C.S., Cunha, A.F., Albuquerque, D.M., Vassallo, J., Ozelo, M.C., Joazeiro, P.P., Saad, S.T. &amp; Costa, F.F. (2006) An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis. <i>Nat. Genet.<\/i>, 38, 807-812.","DOI":"10.1038\/ng1825"},{"key":"38","unstructured":"Hopfer, O., Nolte, F., Mossner, M., Komor, M., Kmetsch, A., Benslasfer, O., Reissmann, M., Nowak, D., Hoelzer, D., Thiel, E. &amp; Hofmann, W.K. (2012) Epigenetic dysregulation of GATA1 is involved in myelodysplastic syndromes dyserythropoiesis. <i>Eur. J. Haematol.<\/i>, 88, 144-153."},{"key":"39","doi-asserted-by":"crossref","unstructured":"Hsu, A.P., Sampaio, E.P., Khan, J., Calvo, K.R., Lemieux, J.E., Patel, S.Y., Frucht, D.M., Vinh, D.C., Auth, R.D., Freeman, A.F., Olivier, K.N., Uzel, G., Zerbe, C.S., Spalding, C., Pittaluga, S., et al. (2011) Mutations in <i>GATA2<\/i> are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. <i>Blood<\/i>, 118, 2653-2655.","DOI":"10.1182\/blood-2011-05-356352"},{"key":"40","unstructured":"Inoue, A., Fujiwara, T., Okitsu, Y., Katsuoka, Y., Fukuhara, N., Onishi, Y., Ishizawa, K. &amp; Harigae, H. (2013) Elucidation of the role of LMO2 in human erythroid cells. <i>Exp. Hematol.<\/i>, 41, 1062-1076."},{"key":"41","unstructured":"Johnson, K.D., Hsu, A.P., Ryu, M.J., Wang, J., Gao, X., Boyer, M.E., Liu, Y., Calvo, K.R., Keles, S., Zhang, J., Holland, S.M. &amp; Bresnick, E.H. (2012) Cis-element mutated in <i>GATA2<\/i>-dependent immunodeficiency governs hematopoiesis and vascular integrity. <i>J. Clin. Invest.<\/i>, 122, 3692-3704."},{"key":"42","doi-asserted-by":"crossref","unstructured":"Johnson, K.D., Kim, S.I. &amp; Bresnick, E.H. (2006) Differential sensitivities of transcription factor target genes underlie cell type-specific gene expression profiles. <i>Proc. Natl. Acad. Sci. USA<\/i>, 103, 15939-15944.","DOI":"10.1073\/pnas.0604041103"},{"key":"43","doi-asserted-by":"crossref","unstructured":"Kamata, M., Okitsu, Y., Fujiwara, T., Kanehira, M., Nakajima, S., Takahashi, T., Inoue, A., Fukuhara, N., Onishi, Y., Ishizawa, K., Shimizu, R., Yamamoto, M. &amp; Harigae, H. (2014) GATA2 regulates differentiation of bone marrow-derived mesenchymal stem cells. <i>Haematologica<\/i>, 99, 1686-1696.","DOI":"10.3324\/haematol.2014.105692"},{"key":"44","doi-asserted-by":"crossref","unstructured":"Kaneko, K., Furuyama, K., Fujiwara, T., Kobayashi, R., Ishida, H., Harigae, H. &amp; Shibahara, S. (2014) Identification of a novel erythroid-specific enhancer for the <i>ALAS2<\/i> gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia. <i>Haematologica<\/i>, 99, 252-261.","DOI":"10.3324\/haematol.2013.085449"},{"key":"45","doi-asserted-by":"crossref","unstructured":"Katagiri, T., Sato-Otsubo, A., Kashiwase, K., Morishima, S., Sato, Y., Mori, Y., Kato, M., Sanada, M., Morishima, Y., Hosokawa, K., Sasaki, Y., Ohtake, S., Ogawa, S. &amp; Nakao, S. (2011) Japan Marrow Donor Program. Frequent loss of HLA alleles associated with copy number-neutral 6pLOH in acquired aplastic anemia. <i>Blood<\/i>, 118, 6601-6609.","DOI":"10.1182\/blood-2011-07-365189"},{"key":"46","unstructured":"Kerenyi, M.A. &amp; Orkin, S.H. (2010) Networking erythropoiesis. <i>J. Exp. Med.<\/i>, 207, 2537-2541."},{"key":"47","unstructured":"Klar, J., Khalfallah, A., Arzoo, P.S., Gazda, H.T. &amp; Dahl, N. (2014) Recurrent <i>GATA1<\/i> mutations in Diamond-Blackfan anaemia. <i>Br. J. Haematol.<\/i>, 166, 949-951."},{"key":"48","doi-asserted-by":"crossref","unstructured":"Kumar, M.S., Hancock, D.C., Molina-Arcas, M., Steckel, M., East, P., Diefenbacher, M., Armenteros-Monterroso, E., Lassailly, F., Matthews, N., Nye, E., Stamp, G., Behrens, A. &amp; Downward, J. (2012) The GATA2 transcriptional network is requisite for RAS oncogene-driven non-small cell lung cancer. <i>Cell<\/i>, 149, 642-655.","DOI":"10.1016\/j.cell.2012.02.059"},{"key":"49","unstructured":"Lahlil, R., L\u00e9cuyer, E., Herblot, S. &amp; Hoang, T. (2004) SCL assembles a multifactorial complex that determines glycophorin A expression. <i>Mol. Cell. Biol.<\/i>, 24, 1439-1452."},{"key":"50","unstructured":"Lim, K.C., Lakshmanan, G., Crawford, S.E., Gu, Y., Grosveld, F. &amp; Engel, J.D. (2000) Gata3 loss leads to embryonic lethality due to noradrenaline deficiency of the sympathetic nervous system. <i>Nat. Genet.<\/i>, 25, 209-212."},{"key":"51","unstructured":"Lipton, J.M. &amp; Ellis, S.R. (2009) Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis. <i>Hematol. Oncol. Clin. North Am.<\/i>, 23, 261-282."},{"key":"52","unstructured":"Ludwig, L.S., Gazda, H.T., Eng, J.C., Eichhorn, S.W., Thiru, P., Ghazvinian, R., George, T.I., Gotlib, J.R., Beggs, A.H., Sieff, C.A., Lodish, H.F., Lander, E.S. &amp; Sankaran, V.G. (2014) Altered translation of GATA1 in Diamond-Blackfan anemia. <i>Nat. Med.<\/i>, 20, 748-753."},{"key":"53","unstructured":"Makishima, H., Yoshizato, T., Yoshida, K., Sekeres, M.A., Radivoyevitch, T., Suzuki, H., Przychodzen, B., Nagata, Y., Meggendorfer, M., Sanada, M., Okuno, Y., Hirsch, C., Kuzmanovic, T., Sato, Y., Sato-Otsubo, A., et al. (2017) Dynamics of clonal evolution in myelodysplastic syndromes. <i>Nat. Genet.<\/i>, 49, 204-212."},{"key":"54","doi-asserted-by":"crossref","unstructured":"Martin, D.I., Tsai, S.F. &amp; Orkin, S.H. (1989) Increased <i>\u03b3<\/i>-globin expression in a nondeletion HPFH mediated by an erythroid-specific DNA-binding factor. <i>Nature<\/i>, 338, 435-438.","DOI":"10.1038\/338435a0"},{"key":"55","doi-asserted-by":"crossref","unstructured":"Massey, G.V., Zipursky, A., Chang, M.N., Doyle, J.J., Nasim, S., Taub, J.W., Ravindranath, Y., Dahl, G. &amp; Weinstein, H.J. (2006) A prospective study of the natural history of transient leukemia (TL) in neonates with Down syndrome (DS): Children\u2019s Oncology Group (COG) study POG-9481. <i>Blood<\/i>, 107, 4606-4613.","DOI":"10.1182\/blood-2005-06-2448"},{"key":"56","doi-asserted-by":"crossref","unstructured":"Mehaffey, M.G., Newton, A.L., Gandhi, M.J., Crossley, M. &amp; Drachman, J.G. (2001) X-linked thrombocytopenia caused by a novel mutation of <i>GATA-1<\/i>. <i>Blood<\/i>, 98, 2681-2688.","DOI":"10.1182\/blood.V98.9.2681"},{"key":"57","doi-asserted-by":"crossref","unstructured":"Minegishi, N., Ohta, J., Yamagiwa, H., Suzuki, N., Kawauchi, S., Zhou, Y., Takahashi, S., Hayashi, N., Engel, J.D. &amp; Yamamoto, M. (1999) The mouse GATA-2 gene is expressed in the para-aortic splanchnopleura and aorta-gonads and mesonephros region. <i>Blood<\/i>, 93, 4196-4207.","DOI":"10.1182\/blood.V93.12.4196"},{"key":"58","doi-asserted-by":"crossref","unstructured":"M\u00fcller, J., Hart, C.M., Francis, N.J., Vargas, M.L., Sengupta, A., Wild, B., Miller, E.L., O\u2019Connor, M.B., Kingston, R.E. &amp; Simon, J.A. (2002) Histone methyltransferase activity of a Drosophila Polycomb group repressor complex. <i>Cell<\/i>, 111, 197-208.","DOI":"10.1016\/S0092-8674(02)00976-5"},{"key":"59","doi-asserted-by":"crossref","unstructured":"Nei, Y., Obata-Ninomiya, K., Tsutsui, H., Ishiwata, K., Miyasaka, M., Matsumoto, K., Nakae. S., Kanuka, H., Inase, N. &amp; Karasuyama, H. (2013) GATA-1 regulates the generation and function of basophils. <i>Proc. Natl. Acad. Sci. USA<\/i>, 110, 18620-18625.","DOI":"10.1073\/pnas.1311668110"},{"key":"60","unstructured":"Nichols, K.E., Crispino, J.D., Poncz, M., White, J.G., Orkin, S.H., Maris, J.M. &amp; Weiss, M.J. (2002) Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in <i>GATA1<\/i>. <i>Nat. Genet.<\/i>, 24, 266-270."},{"key":"61","unstructured":"Okitsu, Y., Takahashi, S., Minegishi, N., Kameoka, J., Kaku, M., Yamamoto, M., Sasaki, T. &amp; Harigae, H. (2007) Regulation of adipocyte differentiation of bone marrow stromal cells by transcription factor GATA-2. <i>Biochem. Biophys. Res. Commun.<\/i>, 364, 383-387."},{"key":"62","doi-asserted-by":"crossref","unstructured":"Onodera, K., Fujiwara, T., Onishi, Y., Itoh-Nakadai, A., Okitsu, Y., Fukuhara, N., Ishizawa, K., Shimizu, R., Yamamoto, M. &amp; Harigae, H. (2016) GATA2 regulates dendritic cell differentiation. <i>Blood<\/i>, 128, 508-518.","DOI":"10.1182\/blood-2016-02-698118"},{"key":"63","doi-asserted-by":"crossref","unstructured":"Orkin, S.H. (1992) GATA-binding transcription factors in hematopoietic cells. <i>Blood<\/i>, 80, 575-581.","DOI":"10.1182\/blood.V80.3.575.575"},{"key":"64","unstructured":"Ostergaard, P., Simpson, M.A., Connell, F.C., Steward, C.G., Brice, G., Woollard, W.J., Dafou, D., Kilo, T., Smithson, S., Lunt, P., Murday, V.A., Hodgson, S., Keenan, R., Pilz, D.T., Martinez-Corral, I., et al. (2011) Mutations in <i>GATA2<\/i> cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). <i>Nat. Genet.<\/i>, 43, 929-931."},{"key":"65","doi-asserted-by":"crossref","unstructured":"Parrella, S., Aspesi, A., Quarello, P., Garelli, E., Pavesi, E., Carando, A., Nardi, M., Ellis, S.R., Ramenghi, U. &amp; Dianzani, I. (2014) Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. <i>Pediatr. Blood Cancer<\/i>, 61, 1319-1321.","DOI":"10.1002\/pbc.24944"},{"key":"66","doi-asserted-by":"crossref","unstructured":"Persons, D.A., Allay, J.A., Allay, E.R., Ashmun, R.A., Orlic, D., Jane, S.M., Cunningham, J.M. &amp; Nienhuis, A.W. (1999) Enforced expression of the GATA-2 transcription factor blocks normal hematopoiesis. <i>Blood<\/i>, 93, 488-499.","DOI":"10.1182\/blood.V93.2.488"},{"key":"67","doi-asserted-by":"crossref","unstructured":"Pevny, L., Simon, M.C., Robertson, E., Klein, W.H., Tsai, S.F., D\u2019Agati, V., Orkin, S.H. &amp; Costantini, F. (1991) Erythroid differentiation in chimaeric mice blocked by a targeted mutation in the gene for transcription factor GATA-1. <i>Nature<\/i>, 349, 257.","DOI":"10.1038\/349257a0"},{"key":"68","doi-asserted-by":"crossref","unstructured":"Phillips, J.D., Steensma, D.P., Pulsipher, M.A., Spangrude, G.J. &amp; Kushner, J.P. (2007) Congenital erythropoietic porphyria due to a mutation in <i>GATA1<\/i>: the first <i>trans<\/i>-acting mutation causative for a human porphyria. <i>Blood<\/i>, 109, 2618-2621.","DOI":"10.1182\/blood-2006-06-022848"},{"key":"69","doi-asserted-by":"crossref","unstructured":"Rodrigues, N.P., Janzen, V., Forkert, R., Dombkowski, D.M., Boyd, A.S., Orkin, S.H., Enver, T., Vyas, P. &amp; Scadden, D.T. (2005) Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis. <i>Blood<\/i>, 106, 477-484.","DOI":"10.1182\/blood-2004-08-2989"},{"key":"70","unstructured":"Rodriguez-Bravo, V., Carceles-Cordon, M., Hoshida, Y., Cordon-Cardo, C., Galsky, M.D. &amp; Domingo-Domenech, J. (2017) The role of GATA2 in lethal prostate cancer aggressiveness. <i>Nat. Rev. Urol.<\/i>, 14, 38-48."},{"key":"71","doi-asserted-by":"crossref","unstructured":"Saito, Y., Fujiwara, T., Ohashi, K., Okitsu, Y., Fukuhara, N., Onishi, Y., Ishizawa, K. &amp; Harigae, H. (2015) High-Throughput siRNA Screening to Reveal GATA-2 Upstream Transcriptional Mechanisms in Hematopoietic Cells. <i>PLoS One<\/i>, 10, e0137079.","DOI":"10.1371\/journal.pone.0137079"},{"key":"72","unstructured":"Sankaran, V.G., Ghazvinian, R., Do, R., Thiru, P., Vergilio, J.A., Beggs, A.H., Sieff, C.A., Orkin, S.H., Nathan, D.G., Lander, E.S. &amp; Gazda, H.T. (2012) Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. <i>J. Clin. Invest.<\/i>, 122, 2439-2443."},{"key":"73","doi-asserted-by":"crossref","unstructured":"Shimizu, R., Kobayashi, E., Engel, J.D. &amp; Yamamoto, M. (2009) Induction of hyperproliferative fetal megakaryopoiesis by an N-terminally truncated GATA1 mutant. <i>Genes Cells<\/i>, 14, 1119-1131.","DOI":"10.1111\/j.1365-2443.2009.01338.x"},{"key":"74","doi-asserted-by":"crossref","unstructured":"Shivdasani, R.A., Mayer, E.L. &amp; Orkin, S.H. (1995) Absence of blood formation in mice lacking the T-cell leukaemia oncoprotein tal-1\/SCL. <i>Nature<\/i>, 373, 432-434.","DOI":"10.1038\/373432a0"},{"key":"75","unstructured":"Soler, E., Andrieu-Soler, C., de Boer, E., Bryne, J.C., Thongjuea, S., Stadhouders, R., Palstra, R.J., Stevens, M., Kockx, C., van Ijcken, W., Hou, J., Steinhoff, C., Rijkers, E., Lenhard, B. &amp; Grosveld, F. (2010) The genome-wide dynamics of the binding of Ldb1 complexes during erythroid differentiation. <i>Genes Dev.<\/i>, 24, 277-289."},{"key":"76","doi-asserted-by":"crossref","unstructured":"Solomou, E.E., Rezvani, K., Mielke, S., Malide, D., Keyvanfar, K., Visconte, V., Kajigaya, S., Barrett, A.J. &amp; Young, N.S. (2007) Deficient CD4<sup>+<\/sup> CD25<sup>+<\/sup> FOXP3<sup>+<\/sup> T regulatory cells in acquired aplastic anemia. <i>Blood<\/i>, 110, 1603-1606.","DOI":"10.1182\/blood-2007-01-066258"},{"key":"77","doi-asserted-by":"crossref","unstructured":"Tong, Q., Dalgin, G., Xu, H., Ting, C.N., Leiden, J.M. &amp; Hotamisligil, G.S. (2000) Function of GATA transcription factors in preadipocyte\u2013adipocyte transition. <i>Science<\/i>, 290, 134-138.","DOI":"10.1126\/science.290.5489.134"},{"key":"78","doi-asserted-by":"crossref","unstructured":"Trainor, C.D., Omichinski, J.G., Vandergon, T.L., Gronenborn, A.M., Clore, G.M. &amp; Felsenfeld, G. (1996) A palindromic regulatory site within vertebrate GATA-1 promoters requires both zinc fingers of the GATA-1 DNA-binding domain for high-affinity interaction. <i>Mol. Cell. Biol.<\/i>, 16, 2238-2247.","DOI":"10.1128\/MCB.16.5.2238"},{"key":"79","doi-asserted-by":"crossref","unstructured":"Tripic, T., Deng, W., Cheng, Y., Zhang, Y., Vakoc, C.R., Gregory, G.D., Hardison, R.C. &amp; Blobel, G.A. (2009) SCL and associated proteins distinguish active from repressive GATA transcription factor complexes. <i>Blood<\/i>, 113, 2191-2201.","DOI":"10.1182\/blood-2008-07-169417"},{"key":"80","doi-asserted-by":"crossref","unstructured":"Tsai, F.Y., Keller, G., Kuo, F.C., Weiss, M., Chen, J., Rosenblatt, M., Alt, F.W. &amp; Orkin, S.H. (1994) An early haematopoietic defect in mice lacking the transcription factor GATA-2. <i>Nature<\/i>, 371, 221-226.","DOI":"10.1038\/371221a0"},{"key":"81","doi-asserted-by":"crossref","unstructured":"Tsai, F.Y. &amp; Orkin, S.H. (1997) Transcription factor GATA-2 is required for proliferation\/survival of early hematopoietic cells and mast cell formation, but not for erythroid and myeloid terminal differentiation. <i>Blood<\/i>, 89, 3636-3643.","DOI":"10.1182\/blood.V89.10.3636"},{"key":"82","doi-asserted-by":"crossref","unstructured":"Tubman, V.N., Levine, J.E., Campagna, D.R., Monahan-Earley, R., Dvorak, A.M., Neufeld, E.J. &amp; Fleming, M.D. (2007) X-linked gray platelet syndrome due to a <i>GATA1<\/i> Arg216Gln mutation. <i>Blood<\/i>, 109, 3297-3299.","DOI":"10.1182\/blood-2006-02-004101"},{"key":"83","doi-asserted-by":"crossref","unstructured":"Vinh, D.C., Patel, S.Y., Uzel, G., Anderson, V.L., Freeman, A.F., Olivier, K.N., Spalding, C., Hughes, S., Pittaluga, S., Raffeld, M., Sorbara, L.R., Elloumi, H.Z., Kuhns, D.B., Turner, M.L., Cowen, E.W., et al. (2010) Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. <i>Blood<\/i>, 115, 1519-1529.","DOI":"10.1182\/blood-2009-03-208629"},{"key":"84","doi-asserted-by":"crossref","unstructured":"Vyas, P., Ault, K., Jackson, C.W., Orkin, S.H. &amp; Shivdasani, R.A. (1999) Consequences of GATA-1 deficiency in megakaryocytes and platelets. <i>Blood<\/i>, 93, 2867-2875.","DOI":"10.1182\/blood.V93.9.2867"},{"key":"85","unstructured":"Wall, L., deBoer, E. &amp; Grosveld, F. (1988) The human beta-globin gene 3\u2032enhancer contains multiple binding sites for an erythroid-specific protein. <i>Genes Dev.<\/i>, 2, 1089-1100."},{"key":"86","unstructured":"Wechsler, J., Greene, M., McDevitt, M.A., Anastasi, J., Karp, J.E., Le Beau, M.M. &amp; Crispino, J.D. (2002) Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. <i>Nat. Genet.<\/i>, 32, 148-152."},{"key":"87","unstructured":"West, R.R., Hsu, A.P., Holland, S.M., Cuellar-Rodriguez, J. &amp; Hickstein, D.D. (2014) Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation. <i>Haematologica.<\/i>, 99, 276-281."},{"key":"88","unstructured":"Xu, Y., Takahashi, Y., Wang, Y., Hama, A., Nishio, N., Muramatsu, H., Tanaka, M., Yoshida, N., Villalobos, I.B., Yagasaki, H. &amp; Kojima, S. (2009) Downregulation of GATA-2 and overexpression of adipogenic gene-PPARgamma in mesenchymal stem cells from patients with aplastic anemia. <i>Exp. Hematol.<\/i>, 37, 1393-1399."},{"key":"89","unstructured":"Yamamoto, M., Ko, L.J., Leonard, M.W., Beug, H., Orkin, S.H. &amp; Engel, J.D. (1990) Activity and tissue-specific expression of the transcription factor NF-E1 multigene family. <i>Genes Dev.<\/i>, 4, 1650-1662."},{"key":"90","doi-asserted-by":"crossref","unstructured":"Yamazaki, H., Suzuki, M., Otsuki, A., Shimizu, R., Bresnick, E.H., Engel, J.D. &amp; Yamamoto, M. (2014) A remote <i>GATA2<\/i> hematopoietic enhancer drives leukemogenesis in inv(3)(q21;q26) by activating <i>EVI1<\/i> expression. <i>Cancer Cell<\/i>, 25, 415-427.","DOI":"10.1016\/j.ccr.2014.02.008"},{"key":"91","doi-asserted-by":"crossref","unstructured":"Yoshida, K., Toki, T., Okuno, Y., Kanezaki, R., Shiraishi, Y., Sato-Otsubo, A., Sanada, M., Park, M.J., Terui, K., Suzuki, H., Kon, A., Nagata, Y., Sato, Y., Wang, R., Shiba, N., et al. (2013) The landscape of somatic mutations in Down syndrome-related myeloid disorders. <i>Nat. Genet.<\/i>, <b>45<\/b>, 1293-1299 (Erratum in <i>Nat. Genet<\/i>. 2013, <b>45<\/b>, 1516).","DOI":"10.1038\/ng1213-1516"},{"key":"92","doi-asserted-by":"crossref","unstructured":"Young, N.S. (1999) Acquired aplastic anemia. <i>JAMA<\/i>, 282, 271-278 (Erratum in <i>JAMA<\/i> 2000, <b>283<\/b>, 57).","DOI":"10.1001\/jama.282.3.271"},{"key":"93","doi-asserted-by":"crossref","unstructured":"Young, N.S., Bacigalupo, A. &amp; Marsh, J.C. (2010) Aplastic anemia: pathophysiology and treatment. <i>Biol. Blood Marrow Transplant.<\/i>, 16, S119-125.","DOI":"10.1016\/j.bbmt.2009.09.013"},{"key":"94","unstructured":"Young, N.S., Scheinberg, P. &amp; Calado, R.T. (2008) Aplastic anemia. <i>Curr. Opin. Hematol.<\/i>, 15, 162-168."},{"key":"95","doi-asserted-by":"crossref","unstructured":"Yu, C., Cantor, A.B., Yang, H., Browne, C., Wells, R.A., Fujiwara, Y. &amp; Orkin, S.H. (2002a) Targeted deletion of a high-affinity GATA-binding site in the GATA-1 promoter leads to selective loss of the eosinophil lineage in vivo. <i>J. Exp. Med.<\/i>, 195, 1387-1395.","DOI":"10.1084\/jem.20020656"},{"key":"96","doi-asserted-by":"crossref","unstructured":"Yu, C., Niakan, K.K., Matsushita, M., Stamatoyannopoulos, G., Orkin, S.H. &amp; Raskind, W.H. (2002b) X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. <i>Blood<\/i>, 100, 2040-2045.","DOI":"10.1182\/blood-2002-02-0387"},{"key":"97","doi-asserted-by":"crossref","unstructured":"Zeng, W., Chen, G., Kajigaya, S., Nunez, O., Charrow, A., Billings, E.M. &amp; Young, N.S. (2004) Gene expression profiling in CD34 cells to identify differences between aplastic anemia patients and healthy volunteers. <i>Blood<\/i>, 103, 325-332.","DOI":"10.1182\/blood-2003-02-0490"},{"key":"98","doi-asserted-by":"crossref","unstructured":"Zhang, S.J., Ma, L.Y., Huang, Q.H., Li, G., Gu, B.W., Gao, X.D., Shi, J.Y., Wang, Y.Y., Gao. L,, Cai, X., Ren, R.B., Zhu, J., Chen, Z. &amp; Chen, S.J. (2008) Gain-of-function mutation of <i>GATA-2<\/i> in acute myeloid transformation of chronic myeloid leukemia. <i>Proc. Natl. Acad. Sci. USA<\/i>, 105, 2076-2081.","DOI":"10.1073\/pnas.0711824105"},{"key":"99","doi-asserted-by":"crossref","unstructured":"Zon, L.I., Yamaguchi, Y., Yee, K., Albee, E.A., Kimura, A., Bennett, J.C., Orkin, S.H. &amp; Ackerman, S.J. (1993) Expression of mRNA for the GATA-binding proteins in human eosinophils and basophils: potential role in gene transcription. <i>Blood<\/i>, 81, 3234-3241.","DOI":"10.1182\/blood.V81.12.3234.3234"}],"container-title":["The Tohoku Journal of Experimental Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/tjem\/242\/2\/242_83\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,8]],"date-time":"2020-10-08T20:22:57Z","timestamp":1602188577000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/tjem\/242\/2\/242_83\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":99,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017]]}},"URL":"https:\/\/doi.org\/10.1620\/tjem.242.83","relation":{},"ISSN":["0040-8727","1349-3329"],"issn-type":[{"value":"0040-8727","type":"print"},{"value":"1349-3329","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}