| Entity | Acute promyelocytic leukaemia |
| Disease | GATA2 may be involved in APL leukemogenesis by physical interaction with the PML component of PML-RARa fusion or with the variant PLZF-RARa fusion, generated respectively by t(15;17) or t(11;17) translocation. |
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| Entity | Myelodysplasic syndrome |
| Disease | GATA2 is expressed in MDS, but not in normal controls; the frequency of expression increases with the severity of dysplasia (100% in RAEB/RAEB-T). |
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| Entity | Myeloid transformation of chronic myelooid leukemia CML |
| Disease | Out of 85 unselected cases of CML blast transformation, 9 showed a GATA2 mutation: 8 with a T-->G substitution at aa359 in ZF2 (L359V) and 1 with a 6 aa deletion (aa 341 to 346) in ZF1. All 9 transformations were myeloid, with a myeloblastic or monoblastic morphology. L359V leads to a gain of function of GATA2 protein. |
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| Entity | Aplastic anemia |
| Disease | Hypothetical. In knockout mice, GATA2 haploinsufficiency leads to a decrease of hematopoietic stem cells number and efficiency. In human, GATA2 mRNA expression is largely reduced in patients with AA. |
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| Potentiation of GATA-2 activity through interactions with the promyelocytic leukemia protein (PML) and the t(15;17)-generated PML-retinoic acid receptor alpha oncoprotein. |
| Tsuzuki S, Towatari M, Saito H, Enver T. |
| Mol Cell Biol. 2000 Sep;20(17):6276-86. |
| PMID 10938104 |
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| Decreased expression of transcription factor GATA-2 in haematopoietic stem cells in patients with aplastic anaemia. |
| Fujimaki S, Harigae H, Sugawara T, Takasawa N, Sasaki T, Kaku M. |
| Br J Haematol. 2001 Apr;113(1):52-7. |
| PMID 11328281 |
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| GATA-1 and GATA-2 gene expression is related to the severity of dysplasia in myelodysplastic syndrome. |
| Fadilah SA, Cheong SK, Roslan H, Rozie-Hanisa M, Yen GK. |
| Leukemia. 2002 Aug;16(8):1563-5. |
| PMID 12145700 |
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| GATA transcription factors and hematological diseases. |
| Harigae H. |
| Tohoku J Exp Med. 2006 Sep;210(1):1-9. Review |
| PMID 16960339 |
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| GATA-1, -2 and -3 genes expression in bone marrow microenviroment with chronic aplastic anemia. |
| Wu X, Li Y, Zhu K, Wang Z, Chen S, Yang L. |
| Hematology. 2007 Aug;12(4):331-5. |
| PMID 17654061 |
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| Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia. |
| Zhang SJ, Ma LY, Huang QH, Li G, Gu BW, Gao XD, Shi JY, Wang YY, Gao L, Cai X, Ren RB, Zhu J, Chen Z, Chen SJ. |
| Proc Natl Acad Sci U S A. 2008 Feb 12;105(6):2076-81. Epub 2008 Feb 4. |
| PMID 18250304 |
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