A β3 Asp217→Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin αIIBβ3 functions

Blood Coagulation and Fibrinolysis

Volumn 19, Issue 7, 2008, Pages 657-662

  D'Andrea, Giovanna ^a,b,d   Bafunno, Valeria ^b   Del Vecchio, Luigi ^c   Amoriello, Aldo ^c   Morabito, Paolo ^c   Vecchione, Gennaro ^b   Grandone, Elvira ^b   Margaglione, Maurizio ^a,b  

^a UNIVERSITY OF FOGGIA   (Italy)

^b IRCCS   (Italy)

^c CARDARELLI HOSPITAL   (Italy)

^d Genetica Medica   (Italy)

Author keywords

Fibrinogen; Glanzmann Thrombasthenia; Integrin; Metal ion dependent adhesion site; Variant

Indexed keywords

ASPARTIC ACID; BETA3 INTEGRIN; FIBRINOGEN; INTEGRIN; INTEGRIN ALPHA2BETA3; INTEGRIN RECEPTOR; UNCLASSIFIED DRUG; VALINE; FIBRINOGEN RECEPTOR;

ADHESION; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BETA3 INTEGRIN GENE; BINDING AFFINITY; CASE REPORT; CELL SURFACE; CHO CELL; COMPARATIVE STUDY; CONTROLLED STUDY; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC CONSERVATION; GLANZMANN DISEASE; HUMAN; MALE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FUNCTION; PROTEIN INTERACTION; ANIMAL; BLOOD; CHILD; CRICETULUS; GENETICS; HAMSTER; THROMBOCYTE AGGREGATION;

AMINO ACID SUBSTITUTION; ANIMALS; CHILD; CHO CELLS; CRICETINAE; CRICETULUS; FIBRINOGEN; HUMANS; INTEGRIN BETA3; MALE; PLATELET AGGREGATION; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; THROMBASTHENIA; VALINE;

EID: 55049119568     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/MBC.0b013e3283048e42     Document Type: Article

References (27)

1. Hynes RO. Integrins: a family of cell surface receptors. Cell 1987; 4:549-554.
2. Marguerie GA, Plow EF, Edgington TS. Human platelets possess an inducible and saturable receptor specific for fibrinogen. J Biol Chem 1979; 254:5357-5363.
3. Shattil SJ, Hoxie JA, Cunningham M, Brass LF. Changes in the platelet membrane glycoprotein IIb.IIIa complex during platelet activation. J Biol Chem 1985; 260:11107-11114.
4. Shattil SJ, Brass LF. Induction of the fibrinogen receptor on human platelets by intracellular mediators. J Biol Chem 1987; 262:992-1000.
5. Brass LF, Laposata M, Banga HS, Rittenhouse SE. Regulation of the phosphoinositide hydrolysis pathway in thrombin-stimulated platelets by a pertussis toxin-sensitive guanine nucleotide-binding protein. Evaluation of its contribution to platelet activation and comparisons with the adenylate cyclase inhibitory protein, Gi. J Biol Chem 1986; 261:16838-16847.
6. George JN, Caen JP, Nurden AT. Glanzmann's thrombasthenia: the spectrum of clinical disease. Blood 1990; 75:1383-1395.
7. Bajt ML, Ginsberg MH, Frelinger AL 3rd, Berndt MC, Loftus JC. A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site. J Biol Chem 1992; 267:3789-3794.
8. 3. J Biol Chem 2000; 275:7795-7802.
9. Loftus JC, O'Toole TE, Plow EF, Glass A, Frelinger AL 3rd, Ginsberg MH. A beta 3 integrin mutation abolishes ligand binding and alters divalent cation-dependent conformation. Science 1990; 249:915-918.
10. 3 subunit. J Biol Chem 1996; 271:21978-21984.
11. Baker EK, Collins Tozer E, Pfaff M, Shattil SJ, Loftus JC, Ginsberg MH. A genetic analysis of integrin function: Glanzmann thrombasthenia in vitro. Proc Natl Acad Sci U S A 1997; 94:1973-1978.
12. 3 (Glycoprotein IIb-IIIa) in a variant of Glanzmann Thrombasthenia. Proc Natl Acad Sci U S A 1992; 89:10169-10173.
13. Chen YP, O'Toole TE, Ylanne J, Rosa JP, Ginsberg MH. A point mutation in the integrin beta 3 cytoplasmic domain (S752→P) impairs bidirectional signaling through alpha IIb beta 3 (platelet glycoprotein IIb-IIIa). Blood 1994; 84:1857-1865.
14. D'Andrea G, Colaizzo D, Vecchione G, Grandone E, Di Minno G, Margaglione M, GL Anzmann's Thrombasthenia Italian Team (GLATIT). Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. Thromb Haemost 2002; 87:1034-1042.
15. Mould AP, Askari JA, Barton S, Kline AD, McEwan PA, Craig SE, Humphries MJ. Integrin activation involves a conformational change in the α1 helix of the α subunit A-domain. J Biol Chem 2002; 277:19800- 19805.
16. Zimrin AB, Eisman R, Vilaire G, Schwartz E, Bennet JS, Poncz M. Structure of platelet glycoprotein IIIa. A common subunit for two different membrane receptors. J Clin Invest 1988; 81:1470-1475.
17. Basani RB, French DL, Vilaire G, Brown DL, Chen F, Coller BS, et al. A naturally occurring mutation near the amino terminus of αIIb defines a new region involved in ligand binding to αIIβ3. Blood 2000; 96:180-188.
18. Margaglione M, Vecchione G, Santacroce R, D'Angelo F, Casetta B, Papa ML, et al. A frameshift mutation in the human fibrinogen A-alpha chain gene (Aalpha(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo. Thromb Haemost 2001; 86:1483-1488.
19. Zucker MB, Masiello NC. Platelet aggregation caused by dithiothreitol. Thromb Haemost 1984; 51:119-124.
20. Gidwtz S, Lyman S, White GC. Expression and function of calcium binding domain chimeras of the integrins αIIb and αV. J Biol Chem 2000; 275:6680-6688.
21. Pidard D, Montgomery RR, Bennett JS, Kunicki TJ. Interaction of AP-2, a monoclonal antibody specific for the human platelet glycoprotein IIb-IIIa complex, with intact platelets. J Biol Chem 1983; 258:12582-12586.
22. French DL, Coller BS. Hematologically important mutations: Glanzmann Thrombasthenia. Blood Cells Mol Dis 1997; 15:39-51.
23. 7. J Biol Chem 2004; 279:55556-55561.
24. Zhou L, Lee DH, Plescia J, Lau CY, Altieri DC. Differential ligand binding specificities of recombinant CD11b/CD18 integrin I-domain. J Biol Chem 1994; 269:17075-17079.
25. Lee JO, Rieu P, Arnaout MA, Liddington R. Crystal structure of the A domain from the alpha subunit of integrin CR3 (CD11b/CD18). Cell 1995; 80:631-638.
26. Plow EF, Haas TA, Zhang L, Loftus J, Smith JW. Ligand binding to integrins. J Biol Chem 2000; 275:21785-21788.
27. Xiong JP, Stehle T, Diefenbach B, Zhang R, Dunker R, Scott DL, et al. Crystal structure of the extracellular segment of integrin αVβ3. Science 2001; 294:339-345.