Naturally occurring mutations in glycoprotein Ibα that result in defective ligand binding and synthesis of a truncated protein

Blood

Volumn 92, Issue 1, 1998, Pages 175-183

  Kenny, Dermot ^a   Jónsson, Ólafur G ^b   Morateck, Patricia A ^b   Montgomery, Robert R ^b  

^a ROYAL COLLEGE OF SURGEONS IN IRELAND   (Ireland)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; THROMBIN RECEPTOR; VON WILLEBRAND FACTOR;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BERNARD SOULIER DISEASE; CASE REPORT; CHO CELL; CONSENSUS SEQUENCE; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; LIGAND BINDING; MALE; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN SYNTHESIS; PROTEIN VARIANT; SEQUENCE ANALYSIS; STOP CODON; THROMBOCYTE ADHESION;

EID: 2642625659     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v92.1.175.413a36_175_183     Document Type: Article

References (52)

1. Kobe B, Deisenhofer J: The leucine-rich repeat: A versatile binding motif. Trends Biochem Sci 19:415,1994
2. Lopez JA: The platelet glycoprotein Ib-IX complex. Blood Coagul Fibrin 5:97,1994
3. López JA, Chung DW, Fujikawa K, Hagen FS, Davie EW, Roth GJ: The α and β chains of human platelet glycoprotein Ib are both transmembrane proteins containing a leucine-rich amino acid sequence. Proc Natl Acad Sci USA 85:2135,1988
4. Wu G, Melom FJ, Shapiro SS: Platelet glycoprotein (GP) IX associates with GPIbα in the platelet membrane GPIb complex. Blood 87:2782,1996
5. Modderman PW, Admiraal LG, Sonnenberg A, von dem Borne AE: Glycoproteins V and Ib-IX form a noncovalent complex in the platelet membrane. J Biol Chem 267:364,1992
6. 2-glycoprotein. Proc Natl Acad Sci USA 84:5615,1987
7. Okumura T, Lombart C, Jamieson GA: Platelet glycocalicin II. Purification and characterization. J Biol Chem 251:5950,1976
8. Coller BS, Kalomiris E, Steinberg M, Scudder LE: Evidence that glycocalicin circulates in normal plasma. J Clin Invest 73:794,1984
9. Beer JH, Büchi L, Steiner B: Glycocalicin: A new assay - The normal plasma levels and its potential usefulness in selected diseases. Blood 83:691,1994
10. Murata M, Ware J, Ruggeri ZM: Site-directed mutagenesis of a soluble recombinant fragment of platelet glycoprotein Ibα demonstrating negatively charged residues involved in von Willebrand factor binding. J Biol Chem 266:15474,1991
11. Vincente V, Houghten RA, Ruggeri ZM: Identification of a site in the alpha chain of platelet glycoprotein Ib that participates in von Willebrand factor binding. J Biol Chem 265:274,1990
12. Bernard J, Soulier JP: Sur une nouvelle variéte de dystrophie thrombocytaire hémorragipare congénitale. Sem Hop Paris 24:3217,1948
13. Roth GJ: Developing relationships: Arterial platelet adhesion, glycoprotein Ib, and leucine-rich glycoproteins. Blood 77:5,1991
14. Ruggeri ZM, Marco LD, Gatti L, Bader R, Montgomery RR: Platelets have more than one binding site for von Willebrand factor J Clin Invest 72:1,1983
15. Ruggeri ZM: The platelet glycoprotein Ib-IX complex. Prog Haemost Thromb 10:35,1991
16. López JA, Leung B, Reynolds CC, Li CQ, Fox JEB: Efficient plasma membrane expression of a functional platelet glycoprotein Ib-IX complex requires the presence of its three subunits. J Biol Chem 267:12851,1992
17. Li CQ, Dong J, Lanza F, Sanan DA, Sae-Tung G, López JA: Expression of platelet glycoprotein (GP) V in heterologous cells and evidence for its association with GP Ibα in forming a GP Ib-IX-V complex on the cell surface. J Biol Chem 270:16302,1995
18. Li C, Pasquale DN, Roth GJ: Bernard-Soulier syndrome with severe bleeding: absent platelet glycoprotein Ib alpha due to a homozygous one-base deletion. Thromb Haemost 76:670,1996
19. Ware J, Russell SR, Vicente V, Scharf RE, Tomer A, McMillan R, Ruggeri ZM: Nonsense mutation in the glycoprotein Ibα coding sequence associated with Bernard-Soulier syndrome. Proc Natl Acad Sci USA 87:2026,1990
20. Simsek S, Admiraal LG, Modderman PW, van der School CE, von dem Borne AEG: Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ibα causing Bernard-Soulier syndrome. Thromb Haemost 72:444,1994
21. Kunishima S, Miura H, Fukutani H, Yoshida H, Osumi K, Kobayashi S, Ohno R, Naoe T: Bernard-Soulier syndrome Kagoshima: Ser 444 → stop mutation of glycoprotein (GP) Ibα resulting in circulating truncated GPIBα and surface expression of GPIbβ and GPIX. Blood 84:3356,1994
22. Noda M, Fujimura K, Takafuta T, Shimomura T, Fujimoto T, Yamamoto N, Tanoue K, Arai M, Suehiro A, Kakishita E, Shimasaki A, Kuramoto A: Heterogenous expression of glycoprotein Ib, IX and V in platelets from two patients with Bernard-Soulier syndrome caused by different genetic abnormalities. Thromb Haemost 74:1411,1995
23. de la Salle C, Baas M, Lanza F, Schwanz A, Hanau D, Chevalier J, Cachet C, Briquel M, Cazenave J: A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ibα associated with a variant of Bernard-Soulier syndrome (Nancy 1). Br J Haematol 89:386,1995
24. Miller JL, Lyle VA, Cunningham D: Mutation of leucine-57 to phenylalanine in a platelet glycoprotin Ibα leucine tandem repeat occuring in patients with an autosomal dominant variant of Bernard-Soulier disease. Blood 79:439,1992
25. Ware J, Russell SR, Marchese P, Murata M, Mazzucato M, Marco LD, Ruggeri ZM: Point mutation in a leucine-rich repeat of platelet glycoprotein Ibα resulting in the Bernard-Soulier syndrome. J Clin Invest 92:1213,1993
26. Li C, Martin E, Roth GJ: The genetic defect in two well-studied cases of Bernard-Soulier syndrome: A point mutation in the fifth leucine-rich repeat of platelet glycoprotein Ibα. Blood 86:3805,1995
27. Simsek S, Noris P, Lozano M, Pico M, von dem Borne AEG, Ribera A, Gallardo D: Cys209 Ser mutation in the platelet membrane glycoprotein Ibα gene is associated with Bernard-Soulier syndrome. Br J Haematol 88:839,1994
28. Afshar-Kharghan V, Lopez JA: Bernard-Soulier syndrome caused by a dinucleotide deletion and reading frame shift in the region encoding the glycoprotein Ibα transmembrane domain. Blood 90:2634,1997
29. Kenny D, Newman PJ, Morateck PA, Montgomery RR: A dinucleotide deletion in glycoprotein Ibα results in defective membrane anchoring and circulating soluble glycoprotein Ibα in a novel form of Bernard-Soulier syndrome. Blood 90:2626,1997
30. Clemetson JM, Kyrle PA, Brenner B. Clemetson KJ: Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX. Blood 84:1124,1994
31. Wright SD, Michaelides K, Johnson DJD, West NC, Tuddenham EGD: Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome. Blood 81:2339,1993
32. 73{TGT} to Tyr{TAT}) causes impaired surface expression of GPIb/IX/V complex in two families with Bernard-Soulier syndrome. Thromb Haemost 76:874,1996
33. Ludlow LB, Schick BP, Budarf ML, Driscoll DA, Zackai EH, Cohen A, Konkle BA: Identification of a mutation in a GATA binding site of the platelet glycoprotein Ib7beta; promoter resulting in the Bernard-Soulier syndrome. J Biol Chem 271:22076,1996
34. Montgomery RR, Kunicki TJ, Taves C, Pidard D, Corcoran M: Diagnosis of Bernard-Soulier syndrome and Glanzmann's thrombasthenia with a monoclonal assay on whole blood. J Clin Invest 71:385,1983
35. Loscalzo J, Handin R: Platelet glycocalicin. Methods Enzymol 215:289,1992
36. Andrews RK, Booth WJ, Gorman JJ, Castaldi PA, Berndt MC: Purification of botrocetin from Bothrops jaracara venom. Analysis of the botrocetin-mediated interaction between von Willebrand factor and the human platelet membrane glycoprotein Ib-IX complex. Biochemistry 28:8317,1989
37. Laemmli UK: Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227:680,1970
38. Towbin H, Staehelin T, Gordon J: Electrophoretic transfer of proteins from polyacrylamide gels to nitrocelluose sheets: Procedure and some applications. Proc Natl Acad Sci USA 76:4350,1979
39. Michelson AD: Flow cytometry: A clinical test of platelet function. Blood 87:4925,1996
40. Kroner PA, Kluessendorf ML, Scott JP, Montgomery RR: Expressed full-length von Willebrand factor containing missense mutations linked to type IIB von Willebrand disease shows enhanced binding to platelets. Blood 79:2048,1992
41. Wenger RH, Kieffer N, Wicki AN, Clemetson KJ: Structure of the human blood platelet membrane glycoprotein Ibα gene. Biochem Biophys Res Commun 156:389,1988
42. López JA, Weisman S, Sanan DA, Sih T, Chambers M, Li CQ: Glycoprotein (GP) Ibβ is the critical subunit linking GP Ibα and GP IX in the GP Ib-complex. J Biol Chem 269:23716,1994
43. Feigner PL, Gadek TR, Holm M. Roman R. Chan HW, Wenz M, Northrop JP, Ringold GM, Danielson M: Lipofection: A highly efficent, lipid mediated DNA-transfection procedure. Proc Natl Acad Sci USA 84:7413,1987
44. Kroner PA, Frey AB: Analysis of the structure and function of the von Willebrand factor Al domain using targeted deletions and alanine-scanning mutagenesis. Biochemistry 35:13460,1996
45. Petersen EJ, Posthumus E, Sixma JJ: Functional expression of single chain glycoprotein Ib alpha on the surface of COS cells and BHK cells. Thromb Haemost 76:768,1996
46. Nishio K, Fujimura Y, Niinomi K, Takahashi Y, Yoshioka A, Fukui H, Usami Y, Titani K, Ruggeri ZM, Zimmerman TS: Enhanced botrocetin-induced type IIB von Willebrand factor binding to platelet glycoprotein Ib initiates hyperagglutination of normal platelets. Am J Hematol 37:261,1990
47. Fujimura Y, Titani K, Usami Y, Suzuki M, Oyama R, Matsui T, Fukui H, Sugimoto M, Ruggeri ZM: Isolation and chemical characterization of two structurally and functionally distinct forms of botrocetin, the platelet coagglutinin isolated from the venom of Bothrops jararaca. Biochemistry 30:1957,1991
48. Scott JP, Montgomery RR, Retzinger GS: Dimeric ristocetin flocculates protein, binds to platelets, and mediates von Willebrand factor-dependent agglutination of platelets. J Biol Chem 266:8149,1991
49. Titani K, Takio K, Handa M, Ruggeri ZM: Amino acid sequence of the von Willebrand factor-binding domain of platelet membrane glycoprotein Ib. Proc Natl Acad Sci USA 84:5610,1987
50. Holmberg L, Karprnan D, Nilsson I, Olofsson T: Bernard-Soulier syndrome Karlstad: Trp 498→Stop mutation resulting in a truncated glycoprotein Ibα that contains part of the transmembranous domain. Br J Haematol 98:57,1997
51. Kanaji T, Okamura T, Kuroiwa M, Noda M, Fujimura K, Kuramoto A, Sano M, Nakano S, Niho Y: Molecular and genetic analysis of two patients with Bernard-Soulier syndrome-identification of new mutations in glycoprotein Ibα gene. Thromb Haemost 77:1055,1997
52. Petersen E, Handin RI: Transient expression of recombinant glycoprotein Ibα polypeptides in COS cells that inhibit von Willebrand factor binding to the platelet glycoprotein Ib/IX complex. Thromb Haemost 68:203,1992