PDF herunterladen
Thromb Haemost 1995; 74(01): 345-351
DOI: 10.1055/s-0038-1642700
Symposium
Platler Glycoproteins and Genetic Disorders
Schattauer GmbH Stuttgart

Polymorphisms of Human Platelet Membrane Glycoproteins: Structure and Clinical Significance

Alan T Nurden
URA 1464 CNRS, Hôpital Cardioiogique, Pessac, France
› Institutsangaben
Weitere Informationen

Publikationsverlauf

Publikationsdatum:
09. Juli 2018 (online)

Auch verfügbar auf
  als PDF herunterladen  Lizenzen und Reprints
 

  • References

  • 1 Kieffer N, Phillips DR. Platelet membrane glycoproteins: functions in cellular interactions. Ann Rev Cell Biol. 1990. 6 329-357
    Suche in Google Scholar
  • 2 Nurden AT. Human platelet membrane glycoproteins. In: Haemostasis and Thrombosis, Edition III. Bloom AL, Forbes CD, Thomas DP, Tuddenham EG D. eds. Churchill Livingstone; Edinburgh: 1994: 115-165
    Suche in Google Scholar
  • 3 Roth GJ. Developing relationships: Arterial platelet adhesion, glycoprotein lb, and leucine-rich glycoproteins. Blood 1991; 7: 5-19
    PubMedSuche in Google Scholar
  • 4 Lopez JA. The platelet glycoprotein Ib-IX complex. Blood Coagulation and Fibrinolysis 1994; 5: 97-119
    CrossrefPubMedSuche in Google Scholar
  • 5 Hess D, Schaller J, Rickli EE, Clemetson KJ. Identification of the disulphide bonds in human platelet glycocalicin. Eur J Biochem 1991; 199: 389-393
    CrossrefPubMedSuche in Google Scholar
  • 6 Lanza F, Morales M, de la Salle C, Cazenave J-P, Clemetson KJ, Shimomura T, Phillips DR. Cloning and characterization of the gene encoding the human platelet glycoprotein V. A member of the leucine-rich glycoprotein family cleaved during thrombin-induced platelet activation J Biol Chem 1993; 268: 20801-20807
    PubMedSuche in Google Scholar
  • 7 Modderman PW, Admiraal LG, Sonnenberg A, von dem Borne AE G Kr. Glycoproteins V and Ib-IX form a noncovalent complex in the platelet membrane. J Biol Chem 1992; 267: 364-369
    PubMedSuche in Google Scholar
  • 8 Vicente V, Houghten RA, Ruggeri ZM. Identification of a site in the alpha chain of platelet glycoprotein lb that participates in von Willebrand binding. J Biol Chem 1990; 265: 274-280
    PubMedSuche in Google Scholar
  • 9 Katagiri Y, Hayashi Y, Yamamoto K, Tanoue K, Kosaki G, Yamazaki H. Localization of von Willebrand factor and thrombin interactive domains cm human platelet glycoprotein lb. Thromb Haemostas 1990; 63: 122-126
    PubMedSuche in Google Scholar
  • 10 Gralnick HR, Williams S, McKeown LP, Hansmann K, Fenton II JW, Krutzsch H. High-affinity α-thrombin binding to platelet glycoprotein Iβα: Identification of two binding domains. Proc Natl Acad Sci USA 1994; 91: 6334-6338
    CrossrefPubMedSuche in Google Scholar
  • 11 Moroi M, Jung SM, Yoshida N. Genetic polymorphism of platelet glycoprotein lb. Blood 1984; 64: 622-629
    PubMedSuche in Google Scholar
  • 12 Lopez JA, Ludwig EH, McCarthy BY. Polymorphism ofhuman glycoprotein Iβα results from a variable number of tandem repeats of a 13-amino acid sequence in the mucin-like macroglycopeptide region. Structure/function implications. J Biol Chem 1992; 267: 10055-10061
    PubMedSuche in Google Scholar
  • 13 Kunicki TJ, Newman PJ. The molecular immunology of human platelet proteins. Blood 1992; 80: 1386-1404
    PubMedSuche in Google Scholar
  • 14 Kuijpers RW A M, Faber NM, Cuypers HT M, Ouwehand WH, von dem Borne AE G Kr. The N-terminal globular domain of human platelet glycoprotein Iβα has a methionine 145/threonine 145 amino acid polymorphism which is associated with the HPA-2 (Ko) alloantigens. J Clin Invest 1992; 89: 381-384
    CrossrefPubMedSuche in Google Scholar
  • 15 von dem Borne AE G, Décary F. ICSH/ISBT working party on platelet serology. Nomenclature of platelet-specific antigens. Vox Sang 1990; 58: 176-176
    CrossrefPubMedSuche in Google Scholar
  • 16 Simsek S, Bleeker PM M, van der Schoot CE, von dem Borne AE G Kr. Association of a variable number of tandem repeats (VNTR) in glycoprotein Iβα and HPA-2 alloantigens. Thromb Haemostas 1994; 72: 757-761
    PubMedSuche in Google Scholar
  • 17 George JN, Nurden AT, Phillips DR. Molecular defects in interactions of platelets with the vessel wall. N Engl J Med 1984; 311: 1084-1098
    CrossrefPubMedSuche in Google Scholar
  • 18 Bray PF. Inherited diseases of platelet glycoproteins: Considerations for rapid molecular characterization. Thromb Haemostas 1994; 72: 492-502
    PubMedSuche in Google Scholar
  • 19 Ware J, Russell SR, Marchese P, Murata M, Mazzucato M, De Marco L, Ruggeri ZM. Point mutation in a leucine-rich repeat of platelet glycoprotein Iβα resulting in the Bemard-Soulier syndrome. J din Invest 1993; 92: 1213-1220
    PubMedSuche in Google Scholar
  • 20 Miller JL, Lyle VA, Cunningham D. Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Iβα leucine tandem repeat occurring in patients with an autosomal dominant variant of Bemard-Soulier disease. Blood 1992; 79: 439-446
    PubMedSuche in Google Scholar
  • 21 Russell SD, Roth GJ. Pseudo-von Willebrand disease: A mutation in the platelet glycoprotein Iβα gene associated with a hyperactive surface receptor. Blood 1993; 81: 1787-1791
    PubMedSuche in Google Scholar
  • 22 Miller JL, Cunningham D, Lyle VA, Finch CN. Mutation in the gene encoding the a chain of platelet glycoprotein lb in platelet-type von Willebrand disease. Proc Natl Acad Sci USA 1991; 88: 4761-4765
    CrossrefPubMedSuche in Google Scholar
  • 23 Santoso S, Kalb R, Kiefel V, Mueller-Eckhardt C, Newman PJ. The human platelet alloantigens, Bra and Br6 are associated with a single amino acid polymorphism on glycoprotein la (integrin α2 subunit). J Clin Invest 1993; 92: 2427-2432
    CrossrefPubMedSuche in Google Scholar
  • 24 Kunicki TJ, Orchekowski R, Annis D, Honda Y. Variability of integrin a2b1activity on human platelets. Blood 1993; 82: 2693-2703
    PubMedSuche in Google Scholar
  • 25 Calvete JJ, Henschen A, Gonzalez-Rodriguez J. Assignment of disulphide bonds in human platelet GP Illa. A disulphide pattern for the β-subunits of the integrin family. Biochem J 1991; 274: 63-71
    CrossrefPubMedSuche in Google Scholar
  • 26 Villa-Garcia M, Li L, Riely G, Bray PF. Isolation and characterisation of a TATA-less promoter for the human β3 integrin gene. Blood 1994; 83: 668-676
    PubMedSuche in Google Scholar
  • 27 Plow EF, D’Souza SE, Ginsberg MH. Ligand binding to GPIIb-IIIa: A status report. Sem Thromb Hemostas 1992; 18: 324-332
    Thieme ConnectPubMedSuche in Google Scholar
  • 28 Charo IF, Nannizzi L, Phillips DR, Hsu MA, Scarborough RM. Inhibition of fibrinogen binding to GPIIb-IIIa by a GPIIIa peptide. J Biol Chem 1991; 266: 1415-1421
    PubMedSuche in Google Scholar
  • 29 Walchshofer S, Ghali D, Fink M, Panzer-Grümayer ER, Panzer S. A rare leucine40/Arginine40polymorphism on platelet glycoprotein Ilia is linked to the human platelet antigen lb. Vox Sang 1994; 67: 231-234
    PubMedSuche in Google Scholar
  • 30 Wang R, Furihata K, McFarland JG, Friedman K, Aster RH, Newman PJ. An amino acid polymorphism within the RGD binding domain of platelet membrane glycoprotein Ilia is responsible for the foimation of the Pena/ Penb alloantigen system. J Clin Invest 1992; 90: 2038-2043
    CrossrefPubMedSuche in Google Scholar
  • 31 Wang R, McFarland JG, Kekomaki R, Newman PJ. Amino acid 489 is coded by a mutational “hot spot” on the beta3 integrin chain: the CA/TU human platelet alloantigen system. Blood 1993; 82: 3386-3391
    PubMedSuche in Google Scholar
  • 32 Kuijpers RW A M, Simsek S, Faber NM, Goldschmeding R, van Wermerkerken RK V, von dem Borne AE G Kr. Single point mutation in human glycoprotein Ilia is associated with a new platelet-specific alloantigen (Mo) involved in neonatal alloimmune thrombocytopenia. Blood 1993; 81: 70-76
    PubMedSuche in Google Scholar
  • 33 Santoso S, Kalb R, Kroll H, Walka M, Kiefel V, Mueller-Eckhardt C, Newman PJ. A point mutation leads to an unpaired cysteine residue and a molecular weight polymoiphism of a functional platelet β3 integrin subunit. J Biol Chem 1994; 269: 8439-8444
    PubMedSuche in Google Scholar
  • 34 Lyman S, Aster RH, Visentin GP, Newman PJ. Polymorphism of human platelet membrane glycoprotein lib as sociated with the Baka/Bakb alloantigen system. Blood 1990; 75: 2343-2348
    PubMedSuche in Google Scholar
  • 35 George JN, Nurden AT, Caen JP. Glanzmann’s thrombasthenia: The spectrum of clinical disease. Blood 1990; 75: 1383-1395
    CrossrefPubMedSuche in Google Scholar
  • 36 Ginsberg MH, Frelinger AL, Lam SC T, Forsyth J, McMillan R, Plow EF, Shattil SJ. Analysis of platelet aggregation disorders based on flow cytometric analysis of membrane glycoprotein Ilb-IIIa with conformation-specific monoclonal antibodies. Blood 1990; 76: 2017-2023
    PubMedSuche in Google Scholar
  • 37 Loftus JC, O’Toole TE, Plow EF, Glass A, Frelinger III AL, Ginsberg MH. A β3 integrin mutation abolishes ligand binding and alters divalent cation- dependent conformation. Science 1990; 249: 915-918
    CrossrefPubMedSuche in Google Scholar
  • 38 Bajt ML, Ginsberg MH, Frelinger III AL, Bemdt MC, Loftus JC. A spontaneous mutation of integrin αIlbβ3(platelet glycoprotein Ilb-IIIa) helps define a ligand binding site. J Biol Chem 1992; 267: 3789-3794
    PubMedSuche in Google Scholar
  • 39 Lanza F, Stierlé A, Fournier D, Morales M, André G, Nurden AT, Cazenave J-P. A new variant of Glanzmann’s thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein Ilb-IIIa complexes and a glycoprotein Illa214Arg ->214Trp mutation J Clin Invest 1992; 89: 1995-2004
    CrossrefPubMedSuche in Google Scholar
  • 40 Djaffar I, Rosa J-P. A second case of variant of Glanzmann’s thrombasthenia due to substitution of platelet GP Ilia (integrin β3) Arg214 by Trp. Hum Mol Gen 1993; 2: 2179-2180
    CrossrefPubMedSuche in Google Scholar
  • 41 Chen Y-P, Djaffar I, Pidard D, Steiner B, Cieutat A-M, Caen JP, Rosa J-P. Ser-752-> Pro mutation in the cytoplasmic domain of integrin b3 subunit and defective activation of platelet integrin αIlbβ3 (glycoprotein Ilb-IIIa) in a variant of Glanzmann thrombasthenia. Proc Natl Acad Sci USA 1992; 89: 10169-10173
    CrossrefPubMedSuche in Google Scholar
  • 42 Peyruchaud O, Nurden AT, Bourre F. Use of PCR-SSCP to screen the exons of the GP lib and GP Ilia genes of a variant with Glanzmann’s thrombasthenia: A mutation in the nucleotide sequence for the GFFKR cytoplasmic domain of the integrin subunit αIlb (GP lib). Abstr, this congress.
    PubMed
  • 43 Coller BS, Seligsohn U, Peretz H, Newman PJ. Glanzmann’s thrombasthenia: New Insights from an historical perspective. Sem Hematol 1994; 31: 301-311
    PubMedSuche in Google Scholar
  • 44 Gawaz MP, Loftus JC, Bajt ML, Frojmovic MM, Plow EF, Ginsberg MH. Ligand binding mediates integrin (platelet GP Ilb-IIIa) dependent homotypic and heterotypic cell-cell interactions. J Clin Invest 1991; 88: 1128-1134
    CrossrefPubMedSuche in Google Scholar
  • 45 Cattaneo M, Lecchi A, Randi AM, McGregor JL, Mannucci PM. Identification of a new congenital defect of platelet function characterized by severe impairment of platelet responses to adenosine diphosphate. Blood 1992; 80: 2787-2796
    PubMedSuche in Google Scholar
  • 46 Nurden P, Savi P, Heilmann E, Bihour C, Herbert J-M, Maffrand J-P, Nurden A. An inherited bleeding disorder linked to a defective interaction between ADP and its receptor on platelets. Its influence on GP Ilb-IIIa complex function. J Clin Invest. In press
    PubMed
  • 47 Vu T-K, Hung DT, Wheaton VI, Coughlin SR. Molecular cloning of a functional thrombin receptor reveals a novel proteolytic mechanism of receptor activation. Cell 1991; 64: 1057-1068
    CrossrefPubMedSuche in Google Scholar
  • 48 Nurden P, Nurden AT. A review of the role of platelet membrane glycoproteins in the platelet-vessel wall interaction. Ballières Clinical Haematology 1993; 6: 653-690
    PubMedSuche in Google Scholar
  • 49 Pan Y, Metzenberg A, Das S, Jing B, Gitschier J. Mutations in the V2 vasopressin receptor gene are associated with x-linked nephrogenic diabetes insipidus. Nature Genetics 1992; 2: 103-108
    CrossrefPubMedSuche in Google Scholar
  • 50 Jin Y, Dietz HC, Nurden AT, Bray PF. SSCP is a rapid and effective method for the identification of mutations and polymorphisms in the gene for GP Illa. Blood 1993; 82: 2281-2288
    PubMedSuche in Google Scholar
  • 51 Peyruchaud O, Nurden A, Bourre F. Non-radioactive SSCP for genotyping human platelet alloantigens. Br J Haematol. 1995 In Press
    PubMedSuche in Google Scholar
  • 52 Cambien F, Poirier O, Lecerf L, Evans A, Cambou JP, Arveiler D, Luc G, Bard JM, Bara L, Ricard S, Tiret L, Amouyel P, Alhenc-gelas F, Soubrier F. Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction. Nature 1992; 359: 641-644
    CrossrefPubMedSuche in Google Scholar
  • 53 Wenzel K, Felix S, Kleber FX, Brachold R, Menke T, Schattke S, Schulte KL, Gläser C, Rohde K, Baumann G, Speer A. E-selectin polymorphism and atherosclerosis: an association study. Hum Mol Gen 1994; 3: 1935-1937
    CrossrefPubMedSuche in Google Scholar