Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome (original) (raw)
References
Lange, B. The management of neoplastic disorders of haematopoiesis in children with Down's syndrome. Br. J. Haematol.110, 512–524 (2000). ArticleCAS Google Scholar
Dickstein, J.I., Davis, E.M. & Roulston, D. Localization of the chromosome 22 breakpoints in two cases of acute megakaryoblastic leukemia with t(1;22)(p13;q13). Cancer Genet. Cytogenet.129, 150–154 (2001). ArticleCAS Google Scholar
Ma, Z. et al. Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nature Genet.28, 220–221 (2001). ArticleCAS Google Scholar
Tsang, A.P. et al. FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation. Cell90, 109–119 (1997). ArticleCAS Google Scholar
Visvader, J.E., Crossley, M., Hill, J., Orkin, S.H. & Adams, J.M. The C-terminal zinc finger of GATA-1 or GATA-2 is sufficient to induce megakaryocytic differentiation of an early myeloid cell line. Mol. Cell. Biol.15, 634–641 (1995). ArticleCAS Google Scholar
Weiss, M.J., Yu, C. & Orkin, S.H. Erythroid-cell-specific properties of transcription factor GATA-1 revealed by phenotypic rescue of a gene-targeted cell line. Mol. Cell. Biol.17, 1642–1651 (1997). ArticleCAS Google Scholar
Shimizu, R., Takahashi, S., Ohneda, K., Engel, J.D. & Yamamoto, M. In vivo requirements for GATA-1 functional domains during primitive and definitive erythropoiesis. EMBO J.20, 5250–5260 (2001). ArticleCAS Google Scholar
Nichols, K.E. et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nature Genet.24, 266–270 (2000). ArticleCAS Google Scholar
Freson, K. et al. Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. Blood98, 85–92 (2001). ArticleCAS Google Scholar
Mehaffey, M.G., Newton, A.L., Gandhi, M.J., Crossley, M. & Drachman, J.G. X-linked thrombocytopenia caused by a novel mutation of GATA-1. Blood98, 2681–2688 (2001). ArticleCAS Google Scholar
Orkin, S.H. Diversification of haematopoietic stem cells to specific lineages. Nature Rev. Genet.1, 57–64 (2000). ArticleCAS Google Scholar
Shivdasani, R.A., Fujiwara, Y., McDevitt, M.A. & Orkin, S.H. A lineage-selective knockout establishes the critical role of transcription factor GATA-1 in megakaryocyte growth and platelet development. EMBO J.16, 3965–3973 (1997). ArticleCAS Google Scholar
Vyas, P., Ault, K., Jackson, C.W., Orkin, S.H. & Shivdasani, R.A. Consequences of GATA-1 deficiency in megakaryocytes and platelets. Blood93, 2867–2875 (1999). CASPubMed Google Scholar
Song, W.J. et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nature Genet.23, 166–175 (1999). ArticleCAS Google Scholar
Michaud, J. et al. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood99, 1364–1372 (2002). ArticleCAS Google Scholar
Osato, M. et al. Biallelic and heterozygous point mutations in the runt domain of the AML1 gene associated with myeloblastic leukemias. Blood93, 1817–1824 (1999). CASPubMed Google Scholar
Preudhomme, C. et al. High incidence of biallelic point mutations in the Runt domain of the AML1/PEBP2αB gene in Mo acute myeloid leukemia and in myeloid malignancies with acquired trisomy 21. Blood96, 2862–2869 (2000). CASPubMed Google Scholar
Crispino, J.D., Lodish, M.B., MacKay, J.P. & Orkin, S.H. Use of altered specificity mutants to probe a specific protein–protein interaction in differentiation: the GATA-1:FOG complex. Mol. Cell3, 219–228 (1999). ArticleCAS Google Scholar
Calligaris, R., Bottardi, S., Cogoi, S., Apezteguia, I. & Santoro, C. Alternative translation initiation site usage results in two functionally distinct forms of the GATA-1 transcription factor. Proc. Natl Acad. Sci. USA92, 11598–11602 (1995). ArticleCAS Google Scholar
Komatsu, N. et al. Growth and differentiation of a human megakaryoblastic cell line, CMK. Blood74, 42–48 (1989). CASPubMed Google Scholar
Sato, T. et al. Establishment of a human leukaemic cell line (CMK) with megakaryocytic characteristics from a Down's syndrome patient with acute megakaryoblastic leukaemia. Br. J. Haematol.72, 184–190 (1989). ArticleCAS Google Scholar
Martin, D.I. & Orkin, S.H. Transcriptional activation and DNA binding by the erythroid factor GF-1/NF-E1/Eryf 1. Genes Dev.4, 1886–1898 (1990). ArticleCAS Google Scholar
Fujiwara, Y., Browne, C.P., Cunniff, K., Goff, S.C. & Orkin, S.H. Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1. Proc. Natl Acad. Sci. USA93, 12355–12358 (1996). ArticleCAS Google Scholar
McDevitt, M.A., Shivdasani, R.A., Fujiwara, Y., Yang, H. & Orkin, S.H. A 'knockdown' mutation created by _cis_-element gene targeting reveals the dependence of erythroid cell maturation on the level of transcription factor GATA-1. Proc. Natl Acad. Sci. USA94, 6781–6785 (1997). ArticleCAS Google Scholar
Takahashi, S. et al. Role of GATA-1 in proliferation and differentiation of definitive erythroid and megakaryocytic cells in vivo. Blood92, 434–442 (1998). CASPubMed Google Scholar
Kelly, L., Clark, J. & Gilliland, D.G. Comprehensive genotypic analysis of leukemia: clinical and therapeutic implications. Curr. Opin. Oncol.14, 10–18 (2002). ArticleCAS Google Scholar
Busson-Le Coniat, M., Nguyen Khac, F., Daniel, M.T., Bernard, O.A. & Berger, R. Chromosome 21 abnormalities with AML1 amplification in acute lymphoblastic leukemia. Genes Chromosom. Cancer32, 244–249 (2001). ArticleCAS Google Scholar
Dal Cin, P. et al. Amplification of AML1 in childhood acute lymphoblastic leukemias. Genes Chromosom. Cancer30, 407–409 (2001). ArticleCAS Google Scholar
Wang, P. et al. dic(5;17): a recurring abnormality in malignant myeloid disorders associated with mutations of TP53. Genes Chromosom. Cancer20, 282–291 (1997). ArticleCAS Google Scholar
Trainor, C.D. et al. A palindromic regulatory site within vertebrate GATA-1 promoters requires both zinc-fingers of the GATA-1 DNA-binding domain for high- affinity interaction. Mol. Cell. Biol.16, 2238–2247 (1996). ArticleCAS Google Scholar