Inherited thrombocytopenia due to GATA-1 mutations

Seminars in Thrombosis and Hemostasis

Volumn 37, Issue 6, 2011, Pages 682-689

  Millikan, Patrick D ^a   Balamohan, Sanjeev M ^a   Raskind, Wendy H ^b   Kacena, Melissa A ^a  

^a INDIANA UNIVERSITY   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

Friend of GATA; GATA 1; megakaryocytes; thrombocytopenia; Trisomy 21

Indexed keywords

PROTEIN FRIEND OF GATA; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GATA 1; UNCLASSIFIED DRUG;

ACUTE GRANULOCYTIC LEUKEMIA; AMINO ACID SEQUENCE; ARTICLE; CHROMOSOME 21; CONGENITAL ERYTHROPOIETIC PORPHYRIA; DOWN SYNDROME; DOWN SYNDROME ASSOCIATED ACUTE MEGAKARYOBLASTIC LEUKEMIA; DOWN SYNDROME ASSOCIATED TRANSIENT MYELOPROLIFERATIVE DISORDER; GENE MUTATION; GENOTYPE; HUMAN; MYELOPROLIFERATIVE DISORDER; PRIORITY JOURNAL; THALASSEMIA; THROMBOCYTOPENIA; TRISOMY 21; X LINKED THROMBOCYTOPENIA; X LINKED THROMBOCYTOPENIA WITH THALASSEMIA;

AMINO ACID SUBSTITUTION; ANIMALS; DOWN SYNDROME; GATA1 TRANSCRIPTION FACTOR; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; THROMBOCYTOPENIA; THROMBOPOIESIS;

EID: 81755171911     PISSN: 00946176     EISSN: 10989064     Source Type: Journal    
DOI: 10.1055/s-0031-1291378     Document Type: Article

References (50)

1. Tsai S F., Martin D I., Zon L I., D'Andrea A D., Wong G G., Orkin S H. Cloning of cDNA for the major DNA-binding protein of the erythroid lineage through expression in mammalian cells. Nature 1989 339 6224 446-451 (Pubitemid 19145788)
2. Zon L I., Tsai S F., Burgess S, Matsudaira P, Bruns G A., Orkin S H. The major human erythroid DNA-binding protein (GF-1): primary sequence and localization of the gene to the X chromosome. Proc Natl Acad Sci U S A 1990 87 2 668-672
3. Lowry J A., Mackay J P. GATA-1: one protein, many partners. Int J Biochem Cell Biol 2006 38 1 6-11 (Pubitemid 41540711)
4. Pevny L, Simon M C., Robertson E et al. Erythroid differentiation in chimaeric mice blocked by a targeted mutation in the gene for transcription factor GATA-1. Nature 1991 349 6306 257-260 (Pubitemid 21912061)
5. Pevny L, Lin C S., D'Agati V, Simon M C., Orkin S H., Costantini F. Development of hematopoietic cells lacking transcription factor GATA-1. Development 1995 121 1 163-172
6. 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 U S A 1996 93 22 12355-12358 (Pubitemid 26367147)
7. 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 1997 16 13 3965-3973 (Pubitemid 27281012)
8. Hirasawa R, Shimizu R, Takahashi S et al. Essential and instructive roles of GATA factors in eosinophil development. J Exp Med 2002 195 11 1379-1386 (Pubitemid 34602815)
9. Migliaccio A R., Rana R A., Sanchez M et al. GATA-1 as a regulator of mast cell differentiation revealed by the phenotype of the GATA-1low mouse mutant. J Exp Med 2003 197 3 281-296 (Pubitemid 36184235)
10. Martin D I., Zon L I., Mutter G, Orkin S H. Expression of an erythroid transcription factor in megakaryocytic and mast cell lineages. Nature 1990 344 6265 444-447
11. Wakabayashi J, Yomogida K, Nakajima O et al. GATA-1 testis activation region is essential for Sertoli cell-specific expression of GATA-1 gene in transgenic mouse. Genes Cells 2003 8 7 619-630 (Pubitemid 36880846)
12. Balduini C L., Pecci A, Loffredo G et al. Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis. Thromb Haemost 2004 91 1 129-140 (Pubitemid 38111229)
13. Tsang A P., Fujiwara Y, Hom D B., Orkin S H. Failure of megakaryopoiesis and arrested erythropoiesis in mice lacking the GATA-1 transcriptional cofactor FOG. Genes Dev 1998 12 8 1176-1188 (Pubitemid 28194053)
14. Ohneda K, Yamamoto M. Roles of hematopoietic transcription factors GATA-1 and GATA-2 in the development of red blood cell lineage. Acta Haematol 2002 108 4 237-245 (Pubitemid 35356700)
15. Cantor A B. GATA transcription factors in hematologic disease. Int J Hematol 2005 81 5 378-384 (Pubitemid 40917679)
16. Vyas P, Ault K, Jackson C W., Orkin S H., Shivdasani R A. Consequences of GATA-1 deficiency in megakaryocytes and platelets. Blood 1999 93 9 2867-2875 (Pubitemid 29200777)
17. Tsang A P., Visvader J E., Turner C A. et al. FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation. Cell 1997 90 1 109-119 (Pubitemid 28009423)
18. Chang A N., Cantor A B., Fujiwara Y et al. GATA-factor dependence of the multitype zinc-finger protein FOG-1 for its essential role in megakaryopoiesis. Proc Natl Acad Sci U S A 2002 99 14 9237-9242 (Pubitemid 34764597)
19. Zhu Q, Watanabe C, Liu T et al. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood 1997 90 7 2680-2689 (Pubitemid 27413478)
20. 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 2001 98 9 2681-2688
21. Nichols K E., Crispino J D., Poncz M et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet 2000 24 3 266-270 (Pubitemid 30132195)
22. Freson K, Devriendt K, Matthijs G et al. Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. Blood 2001 98 1 85-92
23. Freson K, Matthijs G, Thys C et al. Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. Hum Mol Genet 2002 11 2 147-152 (Pubitemid 34157006)
24. Ciovacco W A., Raskind W H., Kacena M A. Human phenotypes associated with GATA-1 mutations. Gene 2008 427 1-2 1-6
25. Del Vecchio G C., Giordani L, De Santis A, De Mattia D. Dyserythropoietic anemia and thrombocytopenia due to a novel mutation in GATA-1. Acta Haematol 2005 114 2 113-116 (Pubitemid 41160941)
26. White J G. Platelet pathology in carriers of the X-linked GATA-1 macrothrombocytopenia. Platelets 2007 18 8 620-627 (Pubitemid 350179045)
27. White J G., Nichols W L., Steensma D P. Platelet pathology in sex-linked GATA-1 dyserythropoietic macrothrombocytopenia II. Cytochemistry. Platelets 2007 18 6 436-450 (Pubitemid 47347047)
28. Raskind W H., Niakan K K., Wolff J et al. Mapping of a syndrome of X-linked thrombocytopenia with Thalassemia to band Xp11-12: further evidence of genetic heterogeneity of X-linked thrombocytopenia. Blood 2000 95 7 2262-2268 (Pubitemid 30167723)
29. Hughan S C., Senis Y, Best D et al. Selective impairment of platelet activation to collagen in the absence of GATA1. Blood 2005 105 11 4369-4376 (Pubitemid 40720783)
30. Tubman V N., Levine J E., Campagna D R. et al. X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. Blood 2007 109 8 3297-3299 (Pubitemid 46572516)
31. 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 2002 100 6 2040-2045 (Pubitemid 35001235)
32. Mori K, Suzuki S, Sugai K. Electron microscopic and functional studies on platelets in gray platelet syndrome. Tohoku J Exp Med 1984 143 3 261-287 (Pubitemid 15195597)
33. Salles I I., Feys H B., Iserbyt B F., De Meyer S F., Vanhoorelbeke K, Deckmyn H. Inherited traits affecting platelet function. Blood Rev 2008 22 3 155-172
34. Clauser S, Cramer-Bordé E. Role of platelet electron microscopy in the diagnosis of platelet disorders. Semin Thromb Hemost 2009 35 2 213-223
35. Gunay-Aygun M, Zivony-Elboum Y, Gumruk F et al. Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood 2010 116 23 4990-5001
36. Balduini C L., De Candia E, Savoia A. Why the disorder induced by GATA1 Arg216Gln mutation should be called X-linked thrombocytopenia with thalassemia rather than X-linked gray platelet syndrome Blood 2007 110 7 2770-2771 author reply 2771 (Pubitemid 47523208)
37. Phillips J D., Steensma D P., Pulsipher M A., Spangrude G J., Kushner J P. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. Blood 2007 109 6 2618-2621 (Pubitemid 46425911)
38. Bishop D F., Schneider-Yin X, Clavero S, Yoo H W., Minder E I., Desnick R J. Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. Blood 2010 115 5 1062-1069
39. Ged C, Moreau-Gaudry F, Richard E, Robert-Richard E, de Verneuil H. Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype. Cell Mol Biol (Noisy-le-grand) 2009 55 1 53-60
40. Hindmarsh J T. The porphyrias: recent advances. Clin Chem 1986 32 7 1255-1263 (Pubitemid 17020819)
41. Hollanda L M., Lima C S., Cunha A F. et al. An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis. Nat Genet 2006 38 7 807-812 (Pubitemid 43980602)
42. Wechsler J, Greene M, McDevitt M A. et al. Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nat Genet 2002 32 1 148-152 (Pubitemid 34977210)
43. Roy A, Roberts I, Norton A, Vyas P. Acute megakaryoblastic leukaemia (AMKL) and transient myeloproliferative disorder (TMD) in Down syndrome: a multi-step model of myeloid leukaemogenesis. Br J Haematol 2009 147 1 3-12
44. Tigay J H. A comparison of acute lymphoblastic leukemia in Down syndrome and non-Down syndrome children: the role of trisomy 21. J Pediatr Oncol Nurs 2009 26 6 362-368
45. Ahmed M, Sternberg A, Hall G et al. Natural history of GATA1 mutations in Down syndrome. Blood 2004 103 7 2480-2489 (Pubitemid 38392997)
46. Crispino J D. GATA1 in normal and malignant hematopoiesis. Semin Cell Dev Biol 2005 16 1 137-147 (Pubitemid 40126884)
47. Crispino J D. GATA1 mutations in Down syndrome: implications for biology and diagnosis of children with transient myeloproliferative disorder and acute megakaryoblastic leukemia. Pediatr Blood Cancer 2005 44 1 40-44 (Pubitemid 39602564)
48. Creutzig U, Reinhardt D, Diekamp S, Dworzak M, Stary J, Zimmermann M. AML patients with Down syndrome have a high cure rate with AML-BFM therapy with reduced dose intensity. Leukemia 2005 19 8 1355-1360 (Pubitemid 41136328)
49. Waltzer L, Ferjoux G, Bataillé L, Haenlin M. Cooperation between the GATA and RUNX factors Serpent and Lozenge during Drosophila hematopoiesis. EMBO J 2003 22 24 6516-6525 (Pubitemid 38009599)
50. 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 2003 101 11 4333-4341 (Pubitemid 36857797)