Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation

Blood

Volumn 98, Issue 1, 2001, Pages 85-92

  Freson, Kathleen ^a,b   Devriendt, Koen ^a,b   Matthijs, Gert ^a,b   Van Hoof, Achiel ^a,b   De Vos, Rita ^a,b   Thys, Chantal ^a,b   Minner, Kristien ^a,b   Hoylaerts, Marc F ^a,b   Vermylen, Jos ^a,b   Van Geet, Chris ^a,b  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b General Hospital St Jan   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; COMPLEMENTARY DNA; GLYCOPROTEIN IB; GLYCOPROTEIN IIIA; MEMBRANE PROTEIN; MESSENGER RNA; RISTOCETIN; TRANSCRIPTION FACTOR GATA 1; ZINC FINGER PROTEIN;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; ELECTRON MICROSCOPY; FLOW CYTOMETRY; GENE MUTATION; HUMAN; HUMAN CELL; MALE; MEGAKARYOCYTE; PRIORITY JOURNAL; PROTEIN DNA BINDING; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SMOOTH ENDOPLASMIC RETICULUM; THROMBOCYTE AGGREGATION; THROMBOCYTOPENIA; X CHROMOSOME LINKED DISORDER;

EID: 0035412362     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.V98.1.85     Document Type: Article

References (31)

1. Brooimans RA, van den Berg AJ, Tamminga RY, Revesz T, Wulffraat NM, Zegers BJ. Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome. Hum Mutat. 2000;15:386-387.
2. Mhawech P, Saleem A. Inherited giant platelet disorders: classification and literature review. Am J Clin Pathol. 2000;113:176-190.
3. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Hegglin/Fechtner Syndrome Consortium. Nat Genet. 2000;26:103-105.
4. Kelley MJ, Jawien W, Ortel TL, Korczak JF. Mutation of MUH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet. 2000;26:106-108.
5. Tsai SF, Martin DI, Zon LI, D'Andrea AD, Wong GG, Orkin SH. Cloning of cDNA for the major DNA-binding protein of the erythroid lineage through expression in mammalian cells. Nature. 1989;339:446-451.
6. Pevny L, Simon MC, Robertson E, et al. Erythroid differentiation in chimaeric mice blocked by a targeted mutation in the gene for transcription factor GATA-1. Nature. 1991;349:257-260.
7. Zon LI, Tsai SF, Burgess S, Matsudaira P, Bruns GAP, Orkin SH. 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;87:668-672.
8. Shivdasani RA, Fujiwara Y, McDevitt MA, Orkin SH. A lineage-selective knockout establishes the critical role of transcription factor GATA-1 in megakaryocyte growth and platelet development. EMBO J. 1997;16:3965-3973.
9. Vyas P, Ault K, Jackson CW, Orkin SH, Shivdasani RA. Consequences of GATA-1 deficiency in megakaryocytes and platelets. Blood. 1999;93:2867-2875.
10. Nichols KE, Crispino JD, Poncz M, et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet. 2000;24:266-270.
11. Cottingham RW, Idury RM, Schaffer AA. Faster sequential genetic linkage computations. Am J Hum Genet. 1993;53:252-263.
12. Tsang AP, Visvader JE, Turner CA, et aL FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation. Cell. 1997;90:109-119.
13. Fox AH, Kowalski K, King GF, Mackay JP, Crossley M. Key residues characteristic of GATA N-fingers are recognized by FOG. J Biol Chem. 1998;173:33595-33603.
14. Benotmane AM, Hoylaerts MF, Collen D, Belayew A. Nonisotopic quantitative analysis of protein-DNA interactions at equilibrium. Anal Biochem. 1997;250:181-185.
15. Deckmyn H, Stanssens P, Hoet B, et al. An echistatin-like Arg-Gly-Asp (RGD)-containing sequence in the heavy chain CDR3 of a murine monoclonal antibody that inhibits human platelet glycoprotein IIb/IIIa function. Br J Haematol. 1994;87:562-571.
16. Theilmeier G, Lenaerts T, Remacle C, Collen D, Vermylen J, Hoylaerts MF. Circulating activated platelets assist THP-1 monocytoid/endothelial cell interaction under shear stress. Blood. 1999;94:2725-2734.
17. Van Hoof A, Missault L, Heynen MJ, Criel A. Familial macrothrombocytopenia with abnormal ultrastructure of megakaryocytes and with associated dysplastic abnormalities in erythroid and myeloid cells [abstract]. Thromb Haemost. 1989;62:503.
18. Crispino JD, Lodish MB, MacKay JP, Orkin SH. Use of altered specificity mutants to probe a specific protein-protein interaction in differentiation: the GATA-1: FOG complex. Mol Cell. 1999;3:219-228.
19. Fox AH, Liew C, Holmes M, Kowalski K, Mackay J, Crossley M. Transcriptional cofactors of the FOG family interact with GATA proteins by means of multipie zinc fingers. EMBO J. 1999;18:2812-2822.
20. Block KL, Ravid K, Phung QH, Poncz M. Characterization of regulatory elements in the 5′-flanking region of the rat GPIIb gene by studies in a primary rat marrow culture system. Blood. 1994;84:3385-3393.
21. Hashimoto Y, Ware J. Identification of essential GATA and Ets binding motifs within the promoter of the ptatelet glycoprotein Iba gene. J Biol Chem. 1995;270:24532-24539.
22. Hickey MJ, Roth GJ. Characterization of the gene encoding human platelet glycoprotein IX. J Biol Chem. 1993;268:3438-3443.
23. Yagi M, Edelhoff S, Disteche CM, Roth GJ. Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein lb beta. J Biol Chem. 1994;269:17424-17427.
24. Ravid K, Doi T, Beeler DL, Kuter DJ, Rosenberg RD. Transcriptional regulation of the rat platelet factor 4 gene: interaction between an enhancer/silencer domain and the GATA site. Mol Cell Biol. 1991;11:6116-6127.
25. Deveaux S, Filipe A, Lemarchandel V, Ghysdael J, Romeo P-H, Mignotte V. Analysis of the thrombopoietin receptor (MPL) promoter implicates GATA and Ets proteins in the coregulation of megakaryocyte-specific genes. Blood. 1996;87:4678-4685.
26. Van der Vuurst H, Hendriks M, Lapetina EG, van Willigen G, Akkerman J-WN. Maturation of megakaryoblastic cells is accompanied by up-regulation of Gsα-L subtype and increased cAMP accumulation. Thromb Haemost. 1998;79:1014-1020.
27. Tsang AP, Fujiwara Y, Hom DB, Orkin SH. Failure of megakaryopoiesis and arrested erythropoiesis in mice lacking the GATA1 transcriptional cofactor FOG. Genes Dev. 1998;12:1176-1188.
28. McDevitt MA, Shivdasani RA, Fujiwara Y, Yang H, Orkin SH. 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 U S A. 1997;94:6781-6785.
29. Kowalski K, Czolij R, King GF, Crossley M, Mackay JP. The solution structure of the N-terminal zinc finger of GATA1 reveals a specific binding face for the transcriptional cofactor FOG. J Biomol NMR. 1999;13:249-262.
30. Margaglione M, D'Andrea G, Grandone E, Brancaccio V, Amoriello A, Di Minno G. Compound heterozygosity (554-589 del, C515-T transition) in the platelet glycoprotein lb alpha gene in a patient with a severe bleeding tendency. Thromb Haemost. 1999;81:486-492.
31. Ludlow LB, Schick BP, Budarf ML, et al. Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promotor resulting in the Bernard-Soulier syndrome. J Biol Chem. 1996;271:22076-22080.