Haematopoietic and immune defects associated with GATA2 mutation

British Journal of Haematology

Volumn 169, Issue 2, 2015, Pages 173-187

  Collin, Matthew ^a   Dickinson, Rachel ^a   Bigley, Venetia ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Bone marrow failure; GATA2; Immunodeficiency

Indexed keywords

AMINO ACID; BINDING PROTEIN; FLT3 LIGAND; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GATA 2; ZINC FINGER PROTEIN;

ACUTE GRANULOCYTIC LEUKEMIA; ALLELE; AMINO ACID SUBSTITUTION; AUTOIMMUNITY; CANCER EPIDEMIOLOGY; DENDRITIC CELL; DISEASE ASSOCIATION; GENE CONTROL; GENE DELETION; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENE STRUCTURE; GENETIC COUNSELING; HAPLOINSUFFICIENCY; HEMATOLOGIC DISEASE; HEMATOPOIETIC STEM CELL; HETEROZYGOSITY; HUMAN; IMMUNE DEFICIENCY; INFECTION PREVENTION; INFECTION SENSITIVITY; LANGERHANS CELL; LEUKEMOGENESIS; LUNG ALVEOLUS PROTEINOSIS; LYMPHEDEMA; MACROPHAGE; MONONUCLEAR CELL; MYELODYSPLASTIC SYNDROME; NATURAL KILLER CELL; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN MOTIF; REVIEW; STEM CELL TRANSPLANTATION; ANIMAL; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; HEMATOPOIESIS; HETEROZYGOTE; IMMUNITY; MUTATION;

ANIMALS; GATA2 TRANSCRIPTION FACTOR; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HAPLOINSUFFICIENCY; HEMATOPOIESIS; HETEROZYGOTE; HUMANS; IMMUNITY; MUTATION;

EID: 84926408535     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.13317     Document Type: Review

References (118)

1. Ahn, E.E., Higashi, T., Yan, M., Matsuura, S., Hickey, C.J., Lo, M.C., Shia, W.J., DeKelver, R.C. & Zhang, D.E. (2013) SON protein regulates GATA-2 through transcriptional control of the microRNA 23a~27a~24-2 cluster. Journal of Biological Chemistry, 288, 5381-5388.
2. Arinobu, Y., Mizuno, S., Chong, Y., Shigematsu, H., Iino, T., Iwasaki, H., Graf, T., Mayfield, R., Chan, S., Kastner, P. & Akashi, K. (2007) Reciprocal activation of GATA-1 and PU.1 marks initial specification of hematopoietic stem cells into myeloerythroid and myelolymphoid lineages. Cell Stem Cell, 1, 416-427.
3. Bakker, S.T. & Passegue, E. (2013) Resilient and resourceful: genome maintenance strategies in hematopoietic stem cells. Experimental Hematology, 41, 915-923.
4. Ballas, Z.K., Turner, J.M., Turner, D.A., Goetzman, E.A. & Kemp, J.D. (1990) A patient with simultaneous absence of "classical" natural killer cells (CD3-, CD16+, and NKH1+) and expansion of CD3+, CD4-, CD8-, NKH1+ subset. The Journal of Allergy and Clinical Immunology, 85, 453-459.
5. Bates, D.L., Chen, Y., Kim, G., Guo, L. & Chen, L. (2008) Crystal structures of multiple GATA zinc fingers bound to DNA reveal new insights into DNA recognition and self-association by GATA. Journal of Molecular Biology, 381, 1292-1306.
6. Beck, D., Thoms, J.A., Perera, D., Schutte, J., Unnikrishnan, A., Knezevic, K., Kinston, S.J., Wilson, N.K., O'Brien, T.A., Gottgens, B., Wong, J.W. & Pimanda, J.E. (2013) Genome-wide analysis of transcriptional regulators in human HSPCs reveals a densely interconnected network of coding and noncoding genes. Blood, 122, e12-e22.
7. Bigley, V., Haniffa, M., Doulatov, S., Wang, X.N., Dickinson, R., McGovern, N., Jardine, L., Pagan, S., Dimmick, I., Chua, I., Wallis, J., Lordan, J., Morgan, C., Kumararatne, D.S., Doffinger, R., van der Burg, M., van Dongen, J., Cant, A., Dick, J.E., Hambleton, S. & Collin, M. (2011) The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. Journal of Experimental Medicine, 208, 227-234.
8. Biron, C.A., Byron, K.S. & Sullivan, J.L. (1989) Severe herpesvirus infections in an adolescent without natural killer cells. New England Journal of Medicine, 320, 1731-1735.
9. Bodor, C., Renneville, A., Smith, M., Charazac, A., Iqbal, S., Etancelin, P., Cavenagh, J., Barnett, M.J., Kramarzova, K., Krishnan, B., Matolcsy, A., Preudhomme, C., Fitzgibbon, J. & Owen, C. (2012) Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival. Haematologica, 97, 890-894.
10. Brandt, W., Khandekar, M., Suzuki, N., Yamamoto, M., Lim, K.C. & Engel, J.D. (2008) Defining the functional boundaries of the Gata2 locus by rescue with a linked bacterial artificial chromosome transgene. Journal of Biological Chemistry, 283, 8976-8983.
11. Bresnick, E.H., Lee, H.Y., Fujiwara, T., Johnson, K.D. & Keles, S. (2010) GATA switches as developmental drivers. Journal of Biological Chemistry, 285, 31087-31093.
12. Calvo, K.R., Vinh, D.C., Maric, I., Wang, W., Noel, P., Stetler-Stevenson, M., Arthur, D.C., Raffeld, M., Dutra, A., Pak, E., Myung, K., Hsu, A.P., Hickstein, D.D., Pittaluga, S. & Holland, S.M. (2011) Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications. Haematologica, 96, 1221-1225.
13. Camargo, J.F., Lobo, S.A., Hsu, A.P., Zerbe, C.S., Wormser, G.P. & Holland, S.M. (2013) MonoMAC syndrome in a patient with a GATA2 mutation: case report and review of the literature. Clinical Infectious Diseases, 57, 697-699.
14. Carey, B. & Trapnell, B.C. (2010) The molecular basis of pulmonary alveolar proteinosis. Clinical Immunology, 135, 223-235.
15. Carmichael, C.L., Wilkins, E.J., Bengtsson, H., Horwitz, M.S., Speed, T.P., Vincent, P.C., Young, G., Hahn, C.N., Escher, R. & Scott, H.S. (2010) Poor prognosis in familial acute myeloid leukaemia with combined biallelic CEBPA mutations and downstream events affecting the ATM, FLT3 and CDX2 genes. British Journal of Haematology, 150, 382-385.
16. Celton, M., Forest, A., Gosse, G., Lemieux, S., Hebert, J., Sauvageau, G. & Wilhelm, B.T. (2014) Epigenetic regulation of GATA2 and its impact on normal karyotype acute myeloid leukemia. Leukemia, 28, 1617-1626.
17. Chou, J., Lutskiy, M., Tsitsikov, E., Notarangelo, L.D., Geha, R.S. & Dioun, A. (2014) Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency. The Journal of Allergy and Clinical Immunology, 134, 223-226.
18. Clemenceau, B., Vivien, R., Berthome, M., Robillard, N., Garand, R., Gallot, G., Vollant, S. & Vie, H. (2008) Effector memory T lymphocytes can express Fc RIIIa and mediate antibody-dependent cellular cytotoxicity. The Journal of Immunology, 180, 5327-5334.
19. Couderc, L.J., Epardeau, B., Dazza, M.C., Clauvel, J.P., Autran, B., Grosset, J. & Caubarrere, I. (1992) Disseminated Mycobacterium avium intracellulare infection without predisposing conditions. Lancet, 340, 731.
20. Cuellar-Rodriguez, J., Gea-Banacloche, J., Freeman, A.F., Hsu, A.P., Zerbe, C.S., Calvo, K.R., Wilder, J., Kurlander, R., Olivier, K.N., Holland, S.M. & Hickstein, D.D. (2011) Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency. Blood, 118, 3715-3720.
21. Darrasse-Jeze, G., Deroubaix, S., Mouquet, H., Victora, G.D., Eisenreich, T., Yao, K.H., Masilamani, R.F., Dustin, M.L., Rudensky, A., Liu, K. & Nussenzweig, M.C. (2009) Feedback control of regulatory T cell homeostasis by dendritic cells in vivo. Journal of Experimental Medicine, 206, 1853-1862.
22. 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., Cant, A., Wright, M., Keavney, B., Chinnery, P.F., Loughlin, J., Hambleton, S., Santibanez-Koref, M. & Collin, M. (2011) Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood, 118, 2656-2658.
23. Dickinson, R.E., Milne, P., Jardine, L., Zandi, S., Swierczek, S.I., McGovern, N., Cookson, S., Ferozepurwalla, Z., Langridge, A., Pagan, S., Gennery, A., Heiskanen-Kosma, T., Hamalainen, S., Seppanen, M., Helbert, M., Tholouli, E., Gambineri, E., Reykdal, S., Gottfreethsson, M., Thaventhiran, J.E., Morris, E., Hirschfield, G., Richter, A.G., Jolles, S., Bacon, C.M., Hambleton, S., Haniffa, M., Bryceson, Y., Allen, C., Prchal, J.T., Dick, J.E., Bigley, V. & Collin, M. (2014) The evolution of cellular deficiency in GATA2 mutation. Blood, 123, 863-874.
24. Dong, X.M., Yin, R.H., Yang, Y., Feng, Z.W., Ning, H.M., Dong, L., Zheng, W.W., Tang, L.J., Wang, J., Jia, Y.X., Jiang, Y.N., Liu, E.D., Chen, H., Zhan, Y.Q., Yu, M., Ge, C.H., Li, C.Y. & Yang, X.M. (2014) GATA-2 inhibits transforming growth factor-beta signaling pathway through interaction with Smad4. Cellular Signalling, 26, 1089-1097.
25. Dore, L.C., Chlon, T.M., Brown, C.D., White, K.P. & Crispino, J.D. (2012) Chromatin occupancy analysis reveals genome-wide GATA factor switching during hematopoiesis. Blood, 119, 3724-3733.
26. Doulatov, S., Notta, F., Eppert, K., Nguyen, L.T., Ohashi, P.S. & Dick, J.E. (2010) Revised map of the human progenitor hierarchy shows the origin of macrophages and dendritic cells in early lymphoid development. Nature Immunology, 11, 585-593.
27. Doulatov, S., Notta, F., Laurenti, E. & Dick, J.E. (2012) Hematopoiesis: a human perspective. Cell Stem Cell, 10, 120-136.
28. Ezoe, S., Matsumura, I., Nakata, S., Gale, K., Ishihara, K., Minegishi, N., Machii, T., Kitamura, T., Yamamoto, M., Enver, T. & Kanakura, Y. (2002) GATA-2/estrogen receptor chimera regulates cytokine-dependent growth of hematopoietic cells through accumulation of p21(WAF1) and p27(Kip1) proteins. Blood, 100, 3512-3520.
29. Ezoe, S., Matsumura, I., Gale, K., Satoh, Y., Ishikawa, J., Mizuki, M., Takahashi, S., Minegishi, N., Nakajima, K., Yamamoto, M., Enver, T. & Kanakura, Y. (2005) GATA transcription factors inhibit cytokine-dependent growth and survival of a hematopoietic cell line through the inhibition of STAT3 activity. Journal of Biological Chemistry, 280, 13163-13170.
30. Fasan, A., Eder, C., Haferlach, C., Grossmann, V., Kohlmann, A., Dicker, F., Kern, W., Haferlach, T. & Schnittger, S. (2013) GATA2 mutations are frequent in intermediate-risk karyotype AML with biallelic CEBPA mutations and are associated with favorable prognosis. Leukemia, 27, 482-485.
31. Fischer, A. (2007) Human primary immunodeficiency diseases. Immunity, 27, 835-845.
32. Fujiwara, T., Fukuhara, N., Funayama, R., Nariai, N., Kamata, M., Nagashima, T., Kojima, K., Onishi, Y., Sasahara, Y., Ishizawa, K., Nagasaki, M., Nakayama, K. & Harigae, H. (2014) Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia. Annals of Hematology, 93, 1515-1522.
33. Gao, X., Johnson, K.D., Chang, Y.I., Boyer, M.E., Dewey, C.N., Zhang, J. & Bresnick, E.H. (2013) Gata2 cis-element is required for hematopoietic stem cell generation in the mammalian embryo. Journal of Experimental Medicine, 210, 2833-2842.
34. Gao, J., Gentzler, R.D., Timms, A.E., Horwitz, M.S., Frankfurt, O., Altman, J.K. & Peterson, L.C. (2014) Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature. Journal of Hematology & Oncology, 7, 36.
35. Gekas, C. & Graf, T. (2013) CD41 expression marks myeloid-biased adult hematopoietic stem cells and increases with age. Blood, 121, 4463-4472.
36. Goardon, N., Marchi, E., Atzberger, A., Quek, L., Schuh, A., Soneji, S., Woll, P., Mead, A., Alford, K.A., Rout, R., Chaudhury, S., Gilkes, A., Knapper, S., Beldjord, K., Begum, S., Rose, S., Geddes, N., Griffiths, M., Standen, G., Sternberg, A., Cavenagh, J., Hunter, H., Bowen, D., Killick, S., Robinson, L., Price, A., Macintyre, E., Virgo, P., Burnett, A., Craddock, C., Enver, T., Jacobsen, S.E., Porcher, C. & Vyas, P. (2011) Coexistence of LMPP-like and GMP-like leukemia stem cells in acute myeloid leukemia. Cancer Cell, 19, 138-152.
37. Grass, J.A., Jing, H., Kim, S.I., Martowicz, M.L., Pal, S., Blobel, G.A. & Bresnick, E.H. (2006) Distinct functions of dispersed GATA factor complexes at an endogenous gene locus. Molecular and Cellular Biology, 26, 7056-7067.
38. Green, C.L., Tawana, K., Hills, R.K., Bodor, C., Fitzgibbon, J., Inglott, S., Ancliff, P., Burnett, A.K., Linch, D.C. & Gale, R.E. (2013) GATA2 mutations in sporadic and familial acute myeloid leukaemia patients with CEBPA mutations. British Journal of Haematology, 161, 701-705.
39. Greif, P.A., Dufour, A., Konstandin, N.P., Ksienzyk, B., Zellmeier, E., Tizazu, B., Sturm, J., Benthaus, T., Herold, T., Yaghmaie, M., Dorge, P., Hopfner, K.P., Hauser, A., Graf, A., Krebs, S., Blum, H., Kakadia, P.M., Schneider, S., Hoster, E., Schneider, F., Stanulla, M., Braess, J., Sauerland, M.C., Berdel, W.E., Buchner, T., Woermann, B.J., Hiddemann, W., Spiekermann, K. & Bohlander, S.K. (2012) GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemia. Blood, 120, 395-403.
40. Groschel, 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., Dohner, K., Beverloo, H.B., Bradner, J.E., Dohner, H., Lowenberg, B., Valk, P.J., Bindels, E.M., de Laat, W. & Delwel, R. (2014) A single oncogenic enhancer rearrangement causes concomitant EVI1 and GATA2 deregulation in leukemia. Cell, 157, 369-381.
41. Grossmann, V., Haferlach, C., Nadarajah, N., Fasan, A., Weissmann, S., Roller, A., Eder, C., Stopp, E., Kern, W., Haferlach, T., Kohlmann, A. & Schnittger, S. (2013) CEBPA double-mutated acute myeloid leukaemia harbours concomitant molecular mutations in 76.8% of cases with TET2 and GATA2 alterations impacting prognosis. British Journal of Haematology, 161, 649-658.
42. Guiu, J., Shimizu, R., D'Altri, T., Fraser, S.T., Hatakeyama, J., Bresnick, E.H., Kageyama, R., Dzierzak, E., Yamamoto, M., Espinosa, L. & Bigas, A. (2013) Hes repressors are essential regulators of hematopoietic stem cell development downstream of Notch signaling. Journal of Experimental Medicine, 210, 71-84.
43. 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., Brown, A.L., Lewis, I.D., To, L.B., Timms, A.E., Storek, J., Moore, S., Altree, M., Escher, R., Bardy, P.G., Suthers, G.K., D'Andrea, R.J., Horwitz, M.S. & Scott, H.S. (2011) Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nature Genetics, 43, 1012-1017.
44. Haniffa, M., Ginhoux, F., Wang, X.N., Bigley, V., Abel, M., Dimmick, I., Bullock, S., Grisotto, M., Booth, T., Taub, P., Hilkens, C., Merad, M. & Collin, M. (2009) Differential rates of replacement of human dermal dendritic cells and macrophages during hematopoietic stem cell transplantation. Journal of Experimental Medicine, 206, 371-385.
45. Hashimoto, D., Chow, A., Noizat, C., Teo, P., Beasley, M.B., Leboeuf, M., Becker, C.D., See, P., Price, J., Lucas, D., Greter, M., Mortha, A., Boyer, S.W., Forsberg, E.C., Tanaka, M., van Rooijen, N., Garcia-Sastre, A., Stanley, E.R., Ginhoux, F., Frenette, P.S. & Merad, M. (2013) Tissue-resident macrophages self-maintain locally throughout adult life with minimal contribution from circulating monocytes. Immunity, 38, 792-804.
46. Haugas, M., Lillevali, K., Hakanen, J. & Salminen, M. (2010) Gata2 is required for the development of inner ear semicircular ducts and the surrounding perilymphatic space. Developmental Dynamics, 239, 2452-2469.
47. Hayakawa, F., Towatari, M., Ozawa, Y., Tomita, A., Privalsky, M.L. & Saito, H. (2004) Functional regulation of GATA-2 by acetylation. Journal of Leukocyte Biology, 75, 529-540.
48. Heyworth, C., Gale, K., Dexter, M., May, G. & Enver, T. (1999) A GATA-2/estrogen receptor chimera functions as a ligand-dependent negative regulator of self-renewal. Genes & Development, 13, 1847-1860.
49. Holme, H., Hossain, U., Kirwan, M., Walne, A., Vulliamy, T. & Dokal, I. (2012) Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia. British Journal of Haematology, 158, 242-248.
50. Horwitz, M., Sabath, D.E., Smithson, W.A. & Radich, J. (1996) A family inheriting different subtypes of acute myelogenous leukemia. American Journal of Hematology, 52, 295-304.
51. 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., Raffeld, M., Kuhns, D.B., Ding, L., Paulson, M.L., Marciano, B.E., Gea-Banacloche, J.C., Orange, J.S., Cuellar-Rodriguez, J., Hickstein, D.D. & Holland, S.M. (2011) Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood, 118, 2653-2655.
52. Hsu, A.P., Johnson, K.D., Falcone, E.L., Sanalkumar, R., Sanchez, L., Hickstein, D.D., Cuellar-Rodriguez, J., Lemieux, J.E., Zerbe, C.S., Bresnick, E.H. & Holland, S.M. (2013) GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. Blood, 121, 3830-3837.
53. Hyde, R.K. & Liu, P.P. (2011) GATA2 mutations lead to MDS and AML. Nature Genetics, 43, 926-927.
54. Ishida, H., Imai, K., Honma, K., Tamura, S., Imamura, T., Ito, M. & Nonoyama, S. (2012) GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia. European Journal of Pediatrics, 171, 1273-1276.
55. Ishijima, Y., Ohmori, S., Uenishi, A. & Ohneda, K. (2012) GATA transcription factors are involved in IgE-dependent mast cell degranulation by enhancing the expression of phospholipase C-gamma1. Genes to Cells, 17, 285-301.
56. Johnson, K.D., Hsu, A.P., Ryu, M.J., Wang, J., Gao, X., Boyer, M.E., Liu, Y., Lee, Y., Calvo, K.R., Keles, S., Zhang, J., Holland, S.M. & Bresnick, E.H. (2012) Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity. The Journal of Clinical Investigation, 122, 3692-3704.
57. Kaur, J., Catovsky, D., Valdimarsson, H., Jensson, O. & Spiers, A.S. (1972) Familial acute myeloid leukaemia with acquired Pelger-Huet anomaly and aneuploidy of C group. British Medical Journal, 4, 327-331.
58. Kazenwadel, J., Secker, G.A., Liu, Y.J., Rosenfeld, J.A., Wildin, R.S., Cuellar-Rodriguez, J., Hsu, A.P., Dyack, S., Fernandez, C.V., Chong, C.E., Babic, M., Bardy, P.G., Shimamura, A., Zhang, M.Y., Walsh, T., Holland, S.M., Hickstein, D.D., Horwitz, M.S., Hahn, C.N., Scott, H.S. & Harvey, N.L. (2012) Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. Blood, 119, 1283-1291.
59. Khandekar, M., Brandt, W., Zhou, Y., Dagenais, S., Glover, T.W., Suzuki, N., Shimizu, R., Yamamoto, M., Lim, K.C. & Engel, J.D. (2007) A Gata2 intronic enhancer confers its pan-endothelia-specific regulation. Development, 134, 1703-1712.
60. Khanjari, F., Watier, H., Domenech, J., Asquier, E., Diot, P. & Nakata, K. (2003) GM-CSF and proteinosis. Thorax, 58, 645.
61. Kobayashi-Osaki, M., Ohneda, O., Suzuki, N., Minegishi, N., Yokomizo, T., Takahashi, S., Lim, K.C., Engel, J.D. & Yamamoto, M. (2005) GATA motifs regulate early hematopoietic lineage-specific expression of the Gata2 gene. Molecular and Cellular Biology, 25, 7005-7020.
62. Lasbury, M.E., Tang, X., Durant, P.J. & Lee, C.H. (2003) Effect of transcription factor GATA-2 on phagocytic activity of alveolar macrophages from Pneumocystis carinii-infected hosts. Infection and Immunity, 71, 4943-4952.
63. Lim, K.C., Hosoya, T., Brandt, W., Ku, C.J., Hosoya-Ohmura, S., Camper, S.A., Yamamoto, M. & Engel, J.D. (2012) Conditional Gata2 inactivation results in HSC loss and lymphatic mispatterning. The Journal of Clinical Investigation, 122, 3705-3717.
64. Ling, K.W., Ottersbach, K., van Hamburg, J.P., Oziemlak, A., Tsai, F.Y., Orkin, S.H., Ploemacher, R., Hendriks, R.W. & Dzierzak, E. (2004) GATA-2 plays two functionally distinct roles during the ontogeny of hematopoietic stem cells. Journal of Experimental Medicine, 200, 871-882.
65. Luesink, M., Hollink, I.H., van der Velden, V.H., Knops, R.H., Boezeman, J.B., de Haas, V., Trka, J., Baruchel, A., Reinhardt, D., van der Reijden, B.A., van den Heuvel-Eibrink, M.M., Zwaan, C.M. & Jansen, J.H. (2012) High GATA2 expression is a poor prognostic marker in pediatric acute myeloid leukemia. Blood, 120, 2064-2075.
66. Ma, G.T., Roth, M.E., Groskopf, J.C., Tsai, F.Y., Orkin, S.H., Grosveld, F., Engel, J.D. & Linzer, D.I. (1997) GATA-2 and GATA-3 regulate trophoblast-specific gene expression in vivo. Development, 124, 907-914.
67. Mace, E.M., Hsu, A.P., Monaco-Shawver, L., Makedonas, G., Rosen, J.B., Dropulic, L., Cohen, J.I., Frenkel, E.P., Bagwell, J.C., Sullivan, J.L., Biron, C.A., Spalding, C., Zerbe, C.S., Uzel, G., Holland, S.M. & Orange, J.S. (2013) Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset. Blood, 121, 2669-2677.
68. Martowicz, M.L., Grass, J.A., Boyer, M.E., Guend, H. & Bresnick, E.H. (2005) Dynamic GATA factor interplay at a multicomponent regulatory region of the GATA-2 locus. Journal of Biological Chemistry, 280, 1724-1732.
69. May, G., Soneji, S., Tipping, A.J., Teles, J., McGowan, S.J., Wu, M., Guo, Y., Fugazza, C., Brown, J., Karlsson, G., Pina, C., Olariu, V., Taylor, S., Tenen, D.G., Peterson, C. & Enver, T. (2013) Dynamic analysis of gene expression and genome-wide transcription factor binding during lineage specification of multipotent progenitors. Cell Stem Cell, 13, 754-768.
70. Merad, M., Manz, M.G., Karsunky, H., Wagers, A., Peters, W., Charo, I., Weissman, I.L., Cyster, J.G. & Engleman, E.G. (2002) Langerhans cells renew in the skin throughout life under steady-state conditions. Nature Immunology, 3, 1135-1141.
71. Micol, J.B. & Abdel-Wahab, O. (2014) Collaborating constitutive and somatic genetic events in myeloid malignancies: ASXL1 mutations in patients with germline GATA2 mutations. Haematologica, 99, 201-203.
72. Minegishi, N., Ohta, J., Yamagiwa, H., Suzuki, N., Kawauchi, S., Zhou, Y., Takahashi, S., Hayashi, N., Engel, J.D. & Yamamoto, M. (1999) The mouse GATA-2 gene is expressed in the para-aortic splanchnopleura and aorta-gonads and mesonephros region. Blood, 93, 4196-4207.
73. Minegishi, N., Suzuki, N., Kawatani, Y., Shimizu, R. & Yamamoto, M. (2005) Rapid turnover of GATA-2 via ubiquitin-proteasome protein degradation pathway. Genes to Cells, 10, 693-704.
74. Mutsaers, P.G., van de Loosdrecht, A.A., Tawana, K., Bodor, C., Fitzgibbon, J. & Menko, F.H. (2013) Highly variable clinical manifestations in a large family with a novel GATA2 mutation. Leukemia, 27, 2247-2248.
75. Niimi, K., Kiyoi, H., Ishikawa, Y., Hayakawa, F., Kurahashi, S., Kihara, R., Tomita, A. & Naoe, T. (2013) GATA2 zinc finger 2 mutation found in acute myeloid leukemia impairs myeloid differentiation. Leukemia Research Reports, 2, 21-25.
76. Nottingham, W.T., Jarratt, A., Burgess, M., Speck, C.L., Cheng, J.F., Prabhakar, S., Rubin, E.M., Li, P.S., Sloane-Stanley, J., Kong-A-San, J. & de Bruijn, M.F. (2007) Runx1-mediated hematopoietic stem-cell emergence is controlled by a Gata/Ets/SCL-regulated enhancer. Blood, 110, 4188-4197.
77. Orkin, S.H. (2000) Diversification of haematopoietic stem cells to specific lineages. Nature Reviews Genetics, 1, 57-64.
78. Orkin, S.H. & Zon, L.I. (2008) Hematopoiesis: an evolving paradigm for stem cell biology. Cell, 132, 631-644.
79. 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., Makinen, T., Mortimer, P.S., Jeffery, S., Trembath, R.C. & Mansour, S. (2011) Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nature Genetics, 43, 929-931.
80. Owen, C.J., Toze, C.L., Koochin, A., Forrest, D.L., Smith, C.A., Stevens, J.M., Jackson, S.C., Poon, M.C., Sinclair, G.D., Leber, B., Johnson, P.R., Macheta, A., Yin, J.A., Barnett, M.J., Lister, T.A. & Fitzgibbon, J. (2008) Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood, 112, 4639-4645.
81. Pan, X., Minegishi, N., Harigae, H., Yamagiwa, H., Minegishi, M., Akine, Y. & Yamamoto, M. (2000) Identification of human GATA-2 gene distal IS exon and its expression in hematopoietic stem cell fractions. Journal of Biochemistry, 127, 105-112.
82. Papaemmanuil, E., Gerstung, M., Malcovati, L., Tauro, S., Gundem, G., Van Loo, P., Yoon, C.J., Ellis, P., Wedge, D.C., Pellagatti, A., Shlien, A., Groves, M.J., Forbes, S.A., Raine, K., Hinton, J., Mudie, L.J., McLaren, S., Hardy, C., Latimer, C., Della Porta, M.G., O'Meara, S., Ambaglio, I., Galli, A., Butler, A.P., Waldin, G., Teague, J.W., Quek, L., Sternberg, A., Gambacorti-Passerini, C., Cross, N.C., Green, A.R., Boultwood, J., Vyas, P., Hellstrom-Lindberg, E., Bowen, D., Cazzola, M., Stratton, M.R. & Campbell, P.J. (2013) Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood, 122, 3616-3627; quiz 3699.
83. Pasquet, M., Bellanne-Chantelot, C., Tavitian, S., Prade, N., Beaupain, B., Larochelle, O., Petit, A., Rohrlich, P., Ferrand, C., Van Den Neste, E., Poirel, H.A., Lamy, T., Ouachee-Chardin, M., Mansat-De Mas, V., Corre, J., Recher, C., Plat, G., Bachelerie, F., Donadieu, J. & Delabesse, E. (2013) High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood, 121, 822-829.
84. de Pater, E., Kaimakis, P., Vink, C.S., Yokomizo, T., Yamada-Inagawa, T., van der Linden, R., Kartalaei, P.S., Camper, S.A., Speck, N. & Dzierzak, E. (2013) Gata2 is required for HSC generation and survival. Journal of Experimental Medicine, 210, 2843-2850.
85. Persons, D.A., Allay, J.A., Allay, E.R., Ashmun, R.A., Orlic, D., Jane, S.M., Cunningham, J.M. & Nienhuis, A.W. (1999) Enforced expression of the GATA-2 transcription factor blocks normal hematopoiesis. Blood, 93, 488-499.
86. de Pooter, R.F., Schmitt, T.M., de la Pompa, J.L., Fujiwara, Y., Orkin, S.H. & Zuniga-Pflucker, J.C. (2006) Notch signaling requires GATA-2 to inhibit myelopoiesis from embryonic stem cells and primary hemopoietic progenitors. Journal of Immunology, 176, 5267-5275.
87. Robinson, C.W., Norman, J.E., Cleland, L.G. & Ford, J.H. (1983) Dermal necrosis and chromosome Iq abnormality in a man with a familial myeloproliferative disorder. Australian and New Zealand Journal of Medicine, 13, 141-145.
88. Rodrigues, N.P., Janzen, V., Forkert, R., Dombkowski, D.M., Boyd, A.S., Orkin, S.H., Enver, T., Vyas, P. & Scadden, D.T. (2005) Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis. Blood, 106, 477-484.
89. Rodrigues, N.P., Boyd, A.S., Fugazza, C., May, G.E., Guo, Y., Tipping, A.J., Scadden, D.T., Vyas, P. & Enver, T. (2008) GATA-2 regulates granulocyte-macrophage progenitor cell function. Blood, 112, 4862-4873.
90. Rodrigues, N.P., Tipping, A.J., Wang, Z. & Enver, T. (2012) GATA-2 mediated regulation of normal hematopoietic stem/progenitor cell function, myelodysplasia and myeloid leukemia. International Journal of Biochemistry & Cell Biology, 44, 457-460.
91. Romee, R., Schneider, S.E., Leong, J.W., Chase, J.M., Keppel, C.R., Sullivan, R.P., Cooper, M.A. & Fehniger, T.A. (2012) Cytokine activation induces human memory-like NK cells. Blood, 120, 4751-4760.
92. Rubel, C.A., Franco, H.L., Jeong, J.W., Lydon, J.P. & DeMayo, F.J. (2012) GATA2 is expressed at critical times in the mouse uterus during pregnancy. Gene Expression Patterns, 12, 196-203.
93. Sanalkumar, R., Johnson, K.D., Gao, X., Boyer, M.E., Chang, Y.I., Hewitt, K.J., Zhang, J. & Bresnick, E.H. (2014) Mechanism governing a stem cell-generating cis-regulatory element. Proceedings of the National Academy of Sciences of the United States of America, 111, E1091-E1100.
94. Sanjuan-Pla, A., Macaulay, I.C., Jensen, C.T., Woll, P.S., Luis, T.C., Mead, A., Moore, S., Carella, C., Matsuoka, S., Jones, T.B., Chowdhury, O., Stenson, L., Lutteropp, M., Green, J.C., Facchini, R., Boukarabila, H., Grover, A., Gambardella, A., Thongjuea, S., Carrelha, J., Tarrant, P., Atkinson, D., Clark, S.A., Nerlov, C. & Jacobsen, S.E. (2013) Platelet-biased stem cells reside at the apex of the haematopoietic stem-cell hierarchy. Nature, 502, 232-236.
95. Scott, H.S., Hahn, C.N., Carmichael, C.L., Wilkins, E.J., Chong, C.-E., Brautigan, P.J., Li, X.-C., Stankovic, M., Lin, M., Carmagnac, A., Buther, C.M., Friend, K.L., Ekert, P.G., Kok, C.H., Brown, A.L., Lewis, I.D., To, L.B., Timms, A.E., Sorek, J., Moore, S., Altree, M., Escher, R., Bardy, P.G., Suthers, G.K., D'Andrea, R.J. & Horwitz, M.S. (2010) GATA2 is a new predisposition gene for familial myelodyplastic syndrome (MDS) and acute myeloid leukaemia (AML). Blood (ASH Annual Meeting Abstracts), 116, 21.
96. Shiba, N., Funato, M., Ohki, K., Park, M.J., Mizushima, Y., Adachi, S., Kobayashi, M., Kinoshita, A., Sotomatsu, M., Arakawa, H., Tawa, A., Horibe, K., Tsukimoto, I. & Hayashi, Y. (2014) Mutations of the GATA2 and CEBPA genes in paediatric acute myeloid leukaemia. British Journal of Haematology, 164, 142-145.
97. Snow, J.W., Trowbridge, J.J., Johnson, K.D., Fujiwara, T., Emambokus, N.E., Grass, J.A., Orkin, S.H. & Bresnick, E.H. (2011) Context-dependent function of "GATA switch" sites in vivo. Blood, 117, 4769-4772.
98. Spinner, M.A., Sanchez, L.A., Hsu, A.P., Shaw, P.A., Zerbe, C.S., Calvo, K.R., Arthur, D.C., Gu, W., Gould, C.M., Brewer, C.C., Cowen, E.W., Freeman, A.F., Olivier, K.N., Uzel, G., Zelazny, A.M., Daub, J.R., Spalding, C.D., Claypool, R.J., Giri, N.K., Alter, B.P., Mace, E.M., Orange, J.S., Cuellar-Rodriguez, J., Hickstein, D.D. & Holland, S. (2014) GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood, 123, 809-821.
99. Strindhall, J., Skog, M., Ernerudh, J., Bengner, M., Lofgren, S., Matussek, A., Nilsson, B.O. & Wikby, A. (2013) The inverted CD4/CD8 ratio and associated parameters in 66-year-old individuals: the Swedish HEXA immune study. Age (Dordrecht, Netherlands), 35, 985-991.
100. Thaker, H., Neilly, I.J., Saunders, P.G., Magee, J.G., Snow, M.H. & Ong, E.L. (2001) Remember mycobacterial disease in hairy cell leukaemia (HCL). Journal of Infection, 42, 213-214.
101. Tipping, A.J., Pina, C., Castor, A., Hong, D., Rodrigues, N.P., Lazzari, L., May, G.E., Jacobsen, S.E. & Enver, T. (2009) High GATA-2 expression inhibits human hematopoietic stem and progenitor cell function by effects on cell cycle. Blood, 113, 2661-2672.
102. Towatari, M., May, G.E., Marais, R., Perkins, G.R., Marshall, C.J., Cowley, S. & Enver, T. (1995) Regulation of GATA-2 phosphorylation by mitogen-activated protein kinase and interleukin-3. Journal of Biological Chemistry, 270, 4101-4107.
103. Tsai, F.Y. & 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. Blood, 89, 3636-3643.
104. Tsai, F.Y., Keller, G., Kuo, F.C., Weiss, M., Chen, J., Rosenblatt, M., Alt, F.W. & Orkin, S.H. (1994) An early haematopoietic defect in mice lacking the transcription factor GATA-2. Nature, 371, 221-226.
105. Vicente, C., Conchillo, A., Garcia-Sanchez, M.A. & Odero, M.D. (2012) The role of the GATA2 transcription factor in normal and malignant hematopoiesis. Critical Reviews in Oncology Hematology, 82, 1-17.
106. 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., Fink, D., Long-Priel, D., Hsu, A.P., Ding, L., Paulson, M.L., Whitney, A.R., Sampaio, E.P., Frucht, D.M., Deleo, F.R. & Holland, S.M. (2010) Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomav-iruses, and myelodysplasia. Blood, 115, 1519-1529.
107. Wendland, T., Herren, S., Yawalkar, N., Cerny, A. & Pichler, W.J. (2000) Strong alpha beta and gamma delta TCR response in a patient with disseminated Mycobacterium avium infection and lack of NK cells and monocytopenia. Immunology Letters, 72, 75-82.
108. West, R.R., Hsu, A.P., Holland, S.M., Cuellar-Rodriguez, J. & Hickstein, D.D. (2013) Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation. Haematologica, 99, 276-281.
109. West, E.S., Kingsbery, M.Y., Mintz, E.M., Hsu, A.P., Holland, S.M., Rady, P.L., Tyring, S.K. & Grossman, M.E. (2014) Generalized verrucosis in a patient with GATA2 deficiency. British Journal of Dermatology, 170, 1182-1186.
110. Wieser, R., Volz, A., Vinatzer, U., Gardiner, K., Jager, U., Mitterbauer, M., Ziegler, A. & Fonatsch, C. (2000) Transcription factor GATA-2 gene is located near 3q21 breakpoints in myeloid leukemia. Biochemical and Biophysical Research Communications, 273, 239-245.
111. Wilson, N.K., Foster, S.D., Wang, X., Knezevic, K., Schutte, J., Kaimakis, P., Chilarska, P.M., Kinston, S., Ouwehand, W.H., Dzierzak, E., Pimanda, J.E., de Bruijn, M.F. & Gottgens, B. (2010) Combinatorial transcriptional control in blood stem/progenitor cells: genome-wide analysis of ten major transcriptional regulators. Cell Stem Cell, 7, 532-544.
112. Witzke, O., Patschan, D., Durig, J., Lindemann, M., Wenzel, R.R., Philipp, T., Grosse-Wilde, H. & Kribben, A. (2004) A patient without monocytes who had pulmonary renal syndrome. American Journal of Kidney Diseases, 44, 556-558.
113. Wu, T.T., Tai, Y.T., Cherng, Y.G., Chen, T.G., Lin, C.J., Chen, T.L., Chang, H.C. & Chen, R.M. (2013) GATA-2 transduces LPS-induced il-1beta gene expression in macrophages via a toll-like receptor 4/MD88/MAPK-dependent mechanism. PLoS ONE, 8, e72404.
114. Yamazaki, H., Suzuki, M., Otsuki, A., Shimizu, R., Bresnick, E.H., Engel, J.D. & Yamamoto, M. (2014) A remote GATA2 hematopoietic enhancer drives leukemogenesis in inv(3)(q21;q26) by activating EVI1 expression. Cancer Cell, 25, 415-427.
115. Yan, X.J., Xu, J., Gu, Z.H., Pan, C.M., Lu, G., Shen, Y., Shi, J.Y., Zhu, Y.M., Tang, L., Zhang, X.W., Liang, W.X., Mi, J.Q., Song, H.D., Li, K.Q., Chen, Z. & Chen, S.J. (2011) Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia. Nature Genetics, 43, 309-315.
116. 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. & Chen, S.J. (2008) Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia. Proceedings of the National Academy of Sciences of the United States of America, 105, 2076-2081.
117. Zhang, S.J., Shi, J.Y. & Li, J.Y. (2009) GATA-2 L359 V mutation is exclusively associated with CML progression but not other hematological malignancies and GATA-2 P250A is a novel single nucleotide polymorphism. Leukemia Research, 33, 1141-1143.
118. Zhou, Y., Lim, K.C., Onodera, K., Takahashi, S., Ohta, J., Minegishi, N., Tsai, F.Y., Orkin, S.H., Yamamoto, M. & Engel, J.D. (1998) Rescue of the embryonic lethal hematopoietic defect reveals a critical role for GATA-2 in urogenital development. EMBO Journal, 17, 6689-6700.