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Volumn 90, Issue 2, 1997, Pages 669-677

A three amino acid deletion in glycoprotein IIIa is responsible for type I Glanzmann's thrombasthenia: Importance of residues Ile325Pro326Gly327 for β3 integrin subunit association

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPROTEIN IIIA; INTEGRIN;

EID: 0030753787     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v90.2.669.669_669_677     Document Type: Article
Times cited : (20)

References (49)
  • 1
    • 0019868598 scopus 로고
    • Characterization of human platelet glycoprotein antigens giving rise to individual immunoprecipitates in crossed-immunoelectrophoresis
    • Kunicki TJ, Nurden AT, Pidard D, Russel NR, Caen JP: Characterization of human platelet glycoprotein antigens giving rise to individual immunoprecipitates in crossed-immunoelectrophoresis. Blood 58:1190, 1981
    • (1981) Blood , vol.58 , pp. 1190
    • Kunicki, T.J.1    Nurden, A.T.2    Pidard, D.3    Russel, N.R.4    Caen, J.P.5
  • 2
    • 0013569990 scopus 로고
    • Expression and function of adhesive proteins on the platelet surface
    • Phillips DR, Shuman MA (eds): San Diego, CA, Academic
    • Plow EF, Ginsberg MH, Marguerie GA: Expression and function of adhesive proteins on the platelet surface, in Phillips DR, Shuman MA (eds): Biochemistry of Platelets. San Diego, CA, Academic, 1986, p 226
    • (1986) Biochemistry of Platelets , pp. 226
    • Plow, E.F.1    Ginsberg, M.H.2    Marguerie, G.A.3
  • 4
    • 0025224552 scopus 로고
    • Platelet membrane glycoproteins: Functions in cellular interactions
    • Kieffer N, Phillips DR: Platelet membrane glycoproteins: Functions in cellular interactions. Annu Rev Cell Biol 6:329, 1990
    • (1990) Annu Rev Cell Biol , vol.6 , pp. 329
    • Kieffer, N.1    Phillips, D.R.2
  • 5
    • 0000029160 scopus 로고
    • Glanzmann thrombasthenia
    • Caen JP: Glanzmann thrombasthenia. J Clin Haematol 1:388, 1972
    • (1972) J Clin Haematol , vol.1 , pp. 388
    • Caen, J.P.1
  • 6
    • 0025253068 scopus 로고
    • Glanzmann's thrombasthenia: The spectrum of clinical disease
    • George JN, Caen JP, Nurden AT: Glanzmann's thrombasthenia: The spectrum of clinical disease. Blood 75:1383, 1990
    • (1990) Blood , vol.75 , pp. 1383
    • George, J.N.1    Caen, J.P.2    Nurden, A.T.3
  • 7
    • 0023666065 scopus 로고
    • Integrins: A family of cell surface receptor
    • Hynes RO: Integrins: A family of cell surface receptor. Cell 48:549, 1987
    • (1987) Cell , vol.48 , pp. 549
    • Hynes, R.O.1
  • 8
    • 0001983047 scopus 로고
    • Integrins: Versatility, modulation and signalling in cell adhesion
    • Hynes RO: Integrins: Versatility, modulation and signalling in cell adhesion. Cell 69:1107, 1992
    • (1992) Cell , vol.69 , pp. 1107
    • Hynes, R.O.1
  • 9
    • 0028142840 scopus 로고
    • Integrin-ligand interactions: A year in review
    • Haas TA, Plow EF: Integrin-ligand interactions: A year in review. Curr Opin Cell Biol 6:656, 1994
    • (1994) Curr Opin Cell Biol , vol.6 , pp. 656
    • Haas, T.A.1    Plow, E.F.2
  • 10
    • 0027679403 scopus 로고
    • Integrin cytoplasmic domains: Mediators of cytoskeletal linkages and extra- and intracellular initiated transmembrane signalling
    • Sastry S, Horwitz AF: Integrin cytoplasmic domains: Mediators of cytoskeletal linkages and extra- and intracellular initiated transmembrane signalling. Curr Opin Cell Biol 5:819, 1993
    • (1993) Curr Opin Cell Biol , vol.5 , pp. 819
    • Sastry, S.1    Horwitz, A.F.2
  • 12
    • 0026024976 scopus 로고
    • Platelet vitronectin receptor expression differentiates Iraqi-Jewish from Arab patients with Glanzmann's thrombasthenia
    • Coller B, Cheresh DA, Asch E, Seligsohn U: Platelet vitronectin receptor expression differentiates Iraqi-Jewish from Arab patients with Glanzmann's thrombasthenia. Blood 77:75, 1991
    • (1991) Blood , vol.77 , pp. 75
    • Coller, B.1    Cheresh, D.A.2    Asch, E.3    Seligsohn, U.4
  • 13
    • 0001758139 scopus 로고
    • Use of murine monoclonal antibodies to study thrombopathies related to GPIIb/IIIa complexes
    • Kaplan-Gouet C, Schlegel N, Salmon C, Mac Gregor J (eds): Paris, France, John Libbey Paris
    • Morel-Kopp MC, Lecompte T, Schlegel N, Hivert P, Kaplan C: Use of murine monoclonal antibodies to study thrombopathies related to GPIIb/IIIa complexes, in Kaplan-Gouet C, Schlegel N, Salmon C, Mac Gregor J (eds): Platelet Immunology: Clinical and Fundamental Aspects. Paris, France, John Libbey Paris, 1991, p 161
    • (1991) Platelet Immunology: Clinical and Fundamental Aspects , pp. 161
    • Morel-Kopp, M.C.1    Lecompte, T.2    Schlegel, N.3    Hivert, P.4    Kaplan, C.5
  • 14
    • 0029320037 scopus 로고
    • Platelet phenotyping in carriers for Glanzmann's thrombasthenia: A simple screening test for assessment of molecular defect
    • Morel-Kopp MC, Clemenceau S, Schlegel N, Lecompte T, Aurousseau MH, Kaplan C: Platelet phenotyping in carriers for Glanzmann's thrombasthenia: A simple screening test for assessment of molecular defect. Trans Med 5:123, 1995
    • (1995) Trans Med , vol.5 , pp. 123
    • Morel-Kopp, M.C.1    Clemenceau, S.2    Schlegel, N.3    Lecompte, T.4    Aurousseau, M.H.5    Kaplan, C.6
  • 15
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Plesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res 16:1215, 1987
    • (1987) Nucleic Acid Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Plesky, H.F.3
  • 16
    • 0027367949 scopus 로고
    • Single-strand conformation polymorphism analysis is a rapid and effective method for the identification of mutations and polymorphisms in the gene for glycoprotein IIIa
    • Jin Y, Dietz HC, Nurden A, Bray PF: Single-strand conformation polymorphism analysis is a rapid and effective method for the identification of mutations and polymorphisms in the gene for glycoprotein IIIa. Blood 82:2281, 1993
    • (1993) Blood , vol.82 , pp. 2281
    • Jin, Y.1    Dietz, H.C.2    Nurden, A.3    Bray, P.F.4
  • 17
    • 0025810562 scopus 로고
    • Adhesive properties of the β3 integrins: Comparison of GPIIb-IIIa and the vitronectin receptor individually expressed in human melanoma cells
    • Kieffer N, Fitzgerald LA, Cheresh DA, Phillips DR: Adhesive properties of the β3 integrins: Comparison of GPIIb-IIIa and the vitronectin receptor individually expressed in human melanoma cells. J Cell Biol 113:451, 1991
    • (1991) J Cell Biol , vol.113 , pp. 451
    • Kieffer, N.1    Fitzgerald, L.A.2    Cheresh, D.A.3    Phillips, D.R.4
  • 18
    • 0023277545 scopus 로고
    • Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
    • Chomczynski P, Sacchi N: Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156, 1987
    • (1987) Anal Biochem , vol.162 , pp. 156
    • Chomczynski, P.1    Sacchi, N.2
  • 20
    • 0027489254 scopus 로고
    • Amino acid 489 is encoded by a mutational 'Hot Spot' on the β3 integrin chain: The Ca/Tu human platelet alloantigen system
    • Wang R, McFarland JG, Kekomäki R, Newman PJ: Amino acid 489 is encoded by a mutational 'Hot Spot' on the β3 integrin chain: The Ca/Tu human platelet alloantigen system. Blood 82:3386, 1993
    • (1993) Blood , vol.82 , pp. 3386
    • Wang, R.1    McFarland, J.G.2    Kekomäki, R.3    Newman, P.J.4
  • 21
    • 0029833463 scopus 로고    scopus 로고
    • Serine 752 in the cytoplasmic domain of the β3 integrin subunit is not required for αvβ3 postreceptor signaling events
    • Kieffer N, Melchior C, Guinet JM, Michels S, Gouon V, Bron N: Serine 752 in the cytoplasmic domain of the β3 integrin subunit is not required for αvβ3 postreceptor signaling events. Cell Adhesion Commun 4:25, 1996
    • (1996) Cell Adhesion Commun , vol.4 , pp. 25
    • Kieffer, N.1    Melchior, C.2    Guinet, J.M.3    Michels, S.4    Gouon, V.5    Bron, N.6
  • 22
    • 0028175884 scopus 로고
    • The integrin αIIbβ3 platelet glycoprotein IIb-IIIa, can form a functionally active heterodimer complex without the cysteine-rich repeats of the β3 subunit
    • Wippler J, Kouns WC, Schlaeger E, Kuhn H, Hadvary P, Steiner B: The integrin αIIbβ3 platelet glycoprotein IIb-IIIa, can form a functionally active heterodimer complex without the cysteine-rich repeats of the β3 subunit. J Biol Chem 269:8754, 1994
    • (1994) J Biol Chem , vol.269 , pp. 8754
    • Wippler, J.1    Kouns, W.C.2    Schlaeger, E.3    Kuhn, H.4    Hadvary, P.5    Steiner, B.6
  • 23
    • 0028086286 scopus 로고
    • Inherited diseases of platelet glycoproteins: Considerations for rapid molecular characterization
    • Bray PF: Inherited diseases of platelet glycoproteins: Considerations for rapid molecular characterization. Thromb Haemost 72:492, 1994
    • (1994) Thromb Haemost , vol.72 , pp. 492
    • Bray, P.F.1
  • 24
    • 0025178671 scopus 로고
    • Identification of an abnormal gene for the GPIIIa subunit of the platelet fibrinogen receptor resulting in Glanzmann's thrombasthenia
    • Bray PF, Shuman MA: Identification of an abnormal gene for the GPIIIa subunit of the platelet fibrinogen receptor resulting in Glanzmann's thrombasthenia. Blood 75:881, 1990
    • (1990) Blood , vol.75 , pp. 881
    • Bray, P.F.1    Shuman, M.A.2
  • 25
    • 0026035227 scopus 로고
    • A deletion in the gene for glycoprotein lib associated with Glanzmann's thrombasthenia
    • Burk CD, Newman PJ, Lyman S, Gill J, Coller BS, Poncz M: A deletion in the gene for glycoprotein lib associated with Glanzmann's thrombasthenia. J Clin Invest 87:270, 1991
    • (1991) J Clin Invest , vol.87 , pp. 270
    • Burk, C.D.1    Newman, P.J.2    Lyman, S.3    Gill, J.4    Coller, B.S.5    Poncz, M.6
  • 26
    • 0027437275 scopus 로고
    • Homologous recombination among three intragene Alu sequences causes an inversion-deletion resulting in the hereditary bleeding disorder Glanzmann thrombasthenia
    • Li L, Bray PF: Homologous recombination among three intragene Alu sequences causes an inversion-deletion resulting in the hereditary bleeding disorder Glanzmann thrombasthenia. Am J Hum Genet 53:140, 1993
    • (1993) Am J Hum Genet , vol.53 , pp. 140
    • Li, L.1    Bray, P.F.2
  • 27
    • 0027716375 scopus 로고
    • A large alteration in the human platelet glycoprotein IIIa (integrin β3) gene associated with Glanzmann's thrombasthenia
    • Djaffar I, Caen J, Rosa JP: A large alteration in the human platelet glycoprotein IIIa (integrin β3) gene associated with Glanzmann's thrombasthenia. Hum Mol Genet 2:2183, 1993
    • (1993) Hum Mol Genet , vol.2 , pp. 2183
    • Djaffar, I.1    Caen, J.2    Rosa, J.P.3
  • 28
    • 0028936301 scopus 로고
    • Glanzmann's thrombasthenia associated with deletion-insertion and alternative splicing in the glycoprotein IIb gene
    • Peretz H, Rosenberg N, Usher U, Graff E, Newman PJ, Coller BS, Seligsohn U: Glanzmann's thrombasthenia associated with deletion-insertion and alternative splicing in the glycoprotein IIb gene. Blood 85:414, 1995
    • (1995) Blood , vol.85 , pp. 414
    • Peretz, H.1    Rosenberg, N.2    Usher, U.3    Graff, E.4    Newman, P.J.5    Coller, B.S.6    Seligsohn, U.7
  • 29
    • 0026356066 scopus 로고
    • The molecular genetic basis of Glanzmann's thrombasthenia in the Iraqi-Jewish and Arab populations in Israel
    • Newman PJ, Seligsohn U, Lyman S, Coller BS: The molecular genetic basis of Glanzmann's thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. Proc Natl Acad Sci USA 88:3160, 1991
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 3160
    • Newman, P.J.1    Seligsohn, U.2    Lyman, S.3    Coller, B.S.4
  • 30
    • 0027447751 scopus 로고
    • Identification of a nonsense mutation at amino acid 584-Arginine of platelet glycoprotein IIb in patients with type I Glanzmann thrombasthenia
    • Gu JM, Xu WF, Wang XD, Wu QY, Chi CW, Ruan CG: Identification of a nonsense mutation at amino acid 584-Arginine of platelet glycoprotein IIb in patients with type I Glanzmann thrombasthenia. Br J Haematol 83:442, 1993
    • (1993) Br J Haematol , vol.83 , pp. 442
    • Gu, J.M.1    Xu, W.F.2    Wang, X.D.3    Wu, Q.Y.4    Chi, C.W.5    Ruan, C.G.6
  • 31
    • 0028117258 scopus 로고
    • An exon 28 mutation resulting in alternative splicing of the glycoprotein IIb transcript and Glanzmann thrombasthenia
    • Iwamoto S, Nishiumu E, Kajii E, Ikemoto S: An exon 28 mutation resulting in alternative splicing of the glycoprotein IIb transcript and Glanzmann thrombasthenia. Blood 83:1017, 1994
    • (1994) Blood , vol.83 , pp. 1017
    • Iwamoto, S.1    Nishiumu, E.2    Kajii, E.3    Ikemoto, S.4
  • 33
    • 0029071549 scopus 로고
    • Abnormal processing of the glycoprotein IIb transcript due to a nonsense mutation in exon 17 associated with Glanzmann's thrombasthenia
    • Tomiyama Y, Kashiwagi H, Kosugi S, Shiraga M, Kanayama Y, Kurata Y, Matsuzawa Y: Abnormal processing of the glycoprotein IIb transcript due to a nonsense mutation in exon 17 associated with Glanzmann's thrombasthenia. Thromb Haemost 73:756, 1995
    • (1995) Thromb Haemost , vol.73 , pp. 756
    • Tomiyama, Y.1    Kashiwagi, H.2    Kosugi, S.3    Shiraga, M.4    Kanayama, Y.5    Kurata, Y.6    Matsuzawa, Y.7
  • 35
    • 0027499394 scopus 로고
    • Glanzmann's thrombasthenia caused by homozygosity for a splice defect that leads to deletion of the first coding exon of the glycoprotein IIIa mRNA
    • Simsek S, Heyboer H, de Bruijne Admiral LG, Goldschmeding R, Cuijpers HTM, von dem Borne AEGKr: Glanzmann's thrombasthenia caused by homozygosity for a splice defect that leads to deletion of the first coding exon of the glycoprotein IIIa mRNA. Blood 81:2044, 1993
    • (1993) Blood , vol.81 , pp. 2044
    • Simsek, S.1    Heyboer, H.2    De Bruijne Admiral, L.G.3    Goldschmeding, R.4    Cuijpers, H.T.M.5    Von Dem Borne, A.E.G.Kr.6
  • 36
    • 10244230035 scopus 로고
    • A mutation in the GPIIIa gene results in mRNA splicing abnormality and suggests maintenance of reading frame in a deliberate process
    • abstr
    • Jin Y, Dietz HC, Bray PF: A mutation in the GPIIIa gene results in mRNA splicing abnormality and suggests maintenance of reading frame in a deliberate process. Blood 82:210a, 1993 (abstr, suppl 1)
    • (1993) Blood , vol.82 , Issue.1 SUPPL.
    • Jin, Y.1    Dietz, H.C.2    Bray, P.F.3
  • 37
    • 0029154482 scopus 로고
    • The molecular basis of Glanzmann's thrombasthenia in a Gypsy population in France: Identification of a new mutation on the αIIb gene
    • Schlegel N, Gayet O, Morel-Kopp MC, Wyler B, Hurtaud-Roux MF, Kaplan C, McGregor J: The molecular basis of Glanzmann's thrombasthenia in a Gypsy population in France: Identification of a new mutation on the αIIb gene. Blood 86:977, 1995
    • (1995) Blood , vol.86 , pp. 977
    • Schlegel, N.1    Gayet, O.2    Morel-Kopp, M.C.3    Wyler, B.4    Hurtaud-Roux, M.F.5    Kaplan, C.6    McGregor, J.7
  • 39
  • 41
    • 0026761286 scopus 로고
    • A spontaneous mutation of integrin αIIbβ3 (platelet glycoprotein IIb-IIIa) helps to define a ligand binding site
    • Bajt ML, Ginsberg MH, Frelinger AL III, Berndt CM, Loftus JC: A spontaneous mutation of integrin αIIbβ3 (platelet glycoprotein IIb-IIIa) helps to define a ligand binding site. J Biol Chem 267:3789, 1992
    • (1992) J Biol Chem , vol.267 , pp. 3789
    • Bajt, M.L.1    Ginsberg, M.H.2    Frelinger III, A.L.3    Berndt, C.M.4    Loftus, J.C.5
  • 42
    • 0026614923 scopus 로고
    • Ser-752 → Pro mutation in the cytoplasmic domain of integrin β3 subunit and defective activation of platelet integrin αIIbβ3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia
    • Chen YP, Djaffar I, Pidard D, Steiner B, Cieutat AM, Caen J, Rosa JP: Ser-752 → Pro mutation in the cytoplasmic domain of integrin β3 subunit and defective activation of platelet integrin αIIbβ3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia. Proc Natl Acad Sci USA 89:10169, 1992
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 10169
    • Chen, Y.P.1    Djaffar, I.2    Pidard, D.3    Steiner, B.4    Cieutat, A.M.5    Caen, J.6    Rosa, J.P.7
  • 43
    • 0029794830 scopus 로고    scopus 로고
    • 374Tyr homozygous mutation of platelet glycoprotein IIIa (β3) in a Chinese patient with Glanzmann's thrombasthenia
    • 374Tyr homozygous mutation of platelet glycoprotein IIIa (β3) in a Chinese patient with Glanzmann's thrombasthenia. Blood 88:1666, 1996
    • (1996) Blood , vol.88 , pp. 1666
    • Grimaldi, C.M.1    Chen, F.2    Scudder, L.E.3    Coller, B.S.4    French, D.L.5
  • 44
    • 0000650163 scopus 로고
    • Type II Glanzmann thrombasthenia due to a destabilizing amino acid substitution in platelet membrane glycoprotein IIIa
    • abstr
    • Newman PJ, Weyerbusch-Bottum S, Visentin GP, Gidwitz S, White GC: Type II Glanzmann thrombasthenia due to a destabilizing amino acid substitution in platelet membrane glycoprotein IIIa. Thromb Haemost 69:1017, 1993 (abstr)
    • (1993) Thromb Haemost , vol.69 , pp. 1017
    • Newman, P.J.1    Weyerbusch-Bottum, S.2    Visentin, G.P.3    Gidwitz, S.4    White, G.C.5
  • 46
    • 0028071221 scopus 로고
    • A single aminoacid substitution flanking the fourth calcium binding domain of αIIb prevents maturation of the αIIbβ3 integrin complex
    • Wilcox DA, Wautier JL, Pidard D, Newman PJ: A single aminoacid substitution flanking the fourth calcium binding domain of αIIb prevents maturation of the αIIbβ3 integrin complex. J Biol Chem 269:4450, 1994
    • (1994) J Biol Chem , vol.269 , pp. 4450
    • Wilcox, D.A.1    Wautier, J.L.2    Pidard, D.3    Newman, P.J.4
  • 47
    • 0343413179 scopus 로고
    • A point mutation in the gene for platelet glycoprotein IIb leads to a substitution in a highly conserved amino acid located between the second and the third Ca++ binding domain
    • abstr
    • Bourre F, Peyruchaud O, Bray PF, Combrié R, Nurden P, Nurden A: A point mutation in the gene for platelet glycoprotein IIb leads to a substitution in a highly conserved amino acid located between the second and the third Ca++ binding domain. Blood 86:452a, 1995 (abstr, suppl 1)
    • (1995) Blood , vol.86 , Issue.1 SUPPL.
    • Bourre, F.1    Peyruchaud, O.2    Bray, P.F.3    Combrié, R.4    Nurden, P.5    Nurden, A.6
  • 48
    • 0026711020 scopus 로고
    • Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: A proposal for the classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex
    • Kato A, Yamamoto K, Miyazaki S, Jung SM, Moroi M, Aoki N: Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: A proposal for the classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex. Blood 79:3212, 1992
    • (1992) Blood , vol.79 , pp. 3212
    • Kato, A.1    Yamamoto, K.2    Miyazaki, S.3    Jung, S.M.4    Moroi, M.5    Aoki, N.6
  • 49
    • 0026583536 scopus 로고
    • Proteolytic dissection of the isolated platelet fibrinogen receptor, integrin GPIIb/IIIa. Localization of GP IIb and GP IIIa sequences putatively involved in the subunit interface and in intrasubunit and intrachain contacts
    • Calvete JJ, Mann K, Alvarez MV, Lopez MM, Gonzalez-Rodriguez J: Proteolytic dissection of the isolated platelet fibrinogen receptor, integrin GPIIb/IIIa. Localization of GP IIb and GP IIIa sequences putatively involved in the subunit interface and in intrasubunit and intrachain contacts. Biochem J 282:523, 1992
    • (1992) Biochem J , vol.282 , pp. 523
    • Calvete, J.J.1    Mann, K.2    Alvarez, M.V.3    Lopez, M.M.4    Gonzalez-Rodriguez, J.5


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