Mutations in GATA1 in both transient myeloproliferative disorder and acute megakaryoblastic leukemia of Down syndrome

Blood Cells, Molecules, and Diseases

Volumn 31, Issue 3, 2003, Pages 351-356

  Greene, Marianne E ^a   Mundschau, Gina ^a   Wechsler, Joshua ^a   McDevitt, Michael ^b   Gamis, Alan ^c   Karp, Judith ^d   Gurbuxani, Sandeep ^a   Arceci, Robert ^d   Crispino, John D ^a,e  

^a UNIVERSITY OF CHICAGO   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c CHILDREN S MERCY HOSPITAL   (United States)

^d JOHNS HOPKINS UNIVERSITY   (United States)

^e UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR GATA 1;

ACUTE MEGAKARYOCYTIC LEUKEMIA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DOWN SYNDROME; EXON; FEMALE; GENE FUNCTION; GENE MUTATION; HUMAN; INFANT; MALE; MUTAGENESIS; MYELOPROLIFERATIVE DISORDER; NEWBORN; PATHOGENESIS; PRELEUKEMIA; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0242720661     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2003.08.001     Document Type: Article

References (25)

1. Lange B. The management of neoplastic disorders of haematopoiesis in children with Down's syndrome. Br. J. Haematol. 110:2000;512-524.
2. Gamis A.S., Hilden J.M. Transient myeloproliferative disorder, a disorder with too few data and many unanswered questions does it contain an important piece of the puzzle to understanding hematopoiesis and acute myelogenous leukemia. J. Pediatr. Hematol. Oncol. 24:2002;2-5.
3. Taub J.W., Ravindranath Y. Down syndrome and the transient myeloproliferative disorder why is it transient. J. Pediatr. Hematol. Oncol. 24:2002;6-8.
4. 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. USA. 93:1996;12355-12358.
5. 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. USA. 94:1997;6781-6785.
6. 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. 16:1997;3965-3973.
7. Takahashi S., Komeno T., Suwabe N., Yoh K., Nakajima O., Nishimura S., Kuroha T., Nagasawa T., Yamamoto M. Role of GATA-1 in proliferation and differentiation of definitive erythroid and megakaryocytic cells in vivo. Blood. 92:1998;434-442.
8. Vyas P., Ault K., Jackson C.W., Orkin S.H., Shivdasani R.A. Consequences of GATA-1 deficiency in megakaryocytes and platelets. Blood. 93:1999;2867-2875.
9. Nichols K.E., Crispino J.D., Poncz M., White J.G., Orkin S.H., Maris J.M., Weiss M.J. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat. Genet. 24:2000;266-270.
10. Freson K., Devriendt K., Matthijs G., Van Hoof A., De Vos R., Thys C., Minner K., Hoylaerts M.F., Vermylen J., Van Geet C. Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. Blood. 98:2001;85-92.
11. 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. Blood. 98:2001;2681-2688.
12. Yu C., Niakan K.K., Matsushita M., Stamatoyannopoulos G., Orkin S.H., Raskind W.H. X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. Blood. 100:2002;2040-2045.
13. Wang P., Spielberger R.T., Thangavelu M., Zhao N., Davis E.M., Iannantuoni K., Larson R.A., Le Beau M.M. dic(5;17) a recurring abnormality in malignant myeloid disorders associated with mutations of TP53. Genes Chromosomes Cancer. 20:1997;282-291.
14. 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. USA. 92:1995;11598-11602.
15. Tsang A.P., Visvader J.E., Turner C.A., Fujiwara Y., Yu C., Weiss M.J., Crossley M., Orkin S.H. FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation. Cell. 90:1997;109-119.
16. Wechsler J., Greene M., McDevitt M.A., Anastasi J.A., Karp J.E., Le Beau M.M., Crispino J.D. Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nat. Genet. 32:2002;148-152.
17. Martin D.I., Orkin S.H. Transcriptional activation and DNA binding by the erythroid factor GF-1/NF-E1/Eryf 1. Genes Dev. 4:1990;1886-1898.
18. 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. 17:1997;1642-1651.
19. 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. 15:1995;634-641.
20. Kelly L., Clark J., Gilliland D.G. Comprehensive genotypic analysis of leukemia clinical and therapeutic implications. Curr. Opin. Oncol. 14:2002;10-18.
21. Song W.J., Sullivan M.G., Legare R.D., Hutchings S., Tan X., Kufrin D., Ratajczak J., Resende I.C., Haworth C., Hock R., Loh M., Felix C., Roy D.C., Busque L., Kurnit D., Willman C., Gewirtz A.M., Speck N.A., Bushweller J.H., Li F.P., Gardiner K., Poncz M., Maris J.M., Gilliland D.G. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat. Genet. 23:1999;166-175.
22. 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 Chromosomes Cancer. 32:2001;244-249.
23. Dal Cin P., Atkins L., Ford C., Ariyanayagam S., Armstrong S.A., George R., Cleary A., Morton C.C. Amplification of AML1 in childhood acute lymphoblastic leukemias. Genes Chromosomes Cancer. 30:2001;407-409.
24. Elagib K.E., Racke F.K., Mogass M., Khetawat R., Delehanty L.L., Goldfarb A.N. RUNX1 and GATA-1 coexpression and cooperation in megakaryocytic differentiation. Blood. 101:2003;4333-4341.
25. Malkin D., Brown E.J., Zipursky A. The role of p53 in megakaryocytic differentiation and the megakaryocytic leukemias of Down syndrome. Cancer Genet. Cytogenet. 116:2000;1-5.