Anovel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsense-mediated decay of GPIIb-mRNA, and type II Glanzmann's thrombasthenia

Journal of Thrombosis and Haemostasis

Volumn 1, Issue 5, 2003, Pages 1071-1078

  Gonzalez Manchon C ^a   Arias Salgado, E G ^a   Butta, N ^a   Martin G ^a   RodriGuez R B ^a   Elalamy, I ^b   Parrilla, R ^a   Favier, R ^b  

^a CENTRO DE INVESTIGACIONES BIOLÓGICAS   (Spain)

^b ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

Glanzmann's thrombasthenia; GPIIb; mRNA decay; Splicing

Indexed keywords

EID: 18844388451     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1046/j.1538-7836.2003.00204.x     Document Type: Article

References (26)

1. Glanzmann E. Hereditare Hemorrhagische Thrombasthenie: ein Beitrag zur Pathologie der Blut Plattchen. J Kinderke 1918; 88: 113-41.
2. Nurden AT, Caen JP. Specific roles for platelet surface glycoproteins in platelet functions. Nature 1975; 255: 720-2.
3. Phillips DR, Charo IF, Parise LV, Fitzgerald LA. The platelet membrane glycoprotein IIb-IIIa complex. Blood 1988; 71: 831-43.
4. Pytela RP, Pierschbacher MD, Ginsberg MH, Plow EF, Ruoslhati E. Platelet membrane glycoprotein IIb/IIIa. Member of a family of Arg-Gly-Asp-specific adhesion receptors. Science 1986; 231: 1559-62.
5. Chen YQ, Trikha M, Gao X, Bazaz R, Porter AT, Timar J, Honn KV. Ectopic expression of platelet integrin aIIbb3 in tumor cells from various species and histological origin. Int J Cancer 1997; 72: 642-8.
6. Caen JP. Glanzmann's thrombasthenia. Clin Haematol 1972; 1: 383-92.
7. Nurden AT, Rosa JP, Fournier D, Legrand C, Didry D, Parquet A, Pidard D. Avariant of Glanzmann's thrombasthenia with abnormal GPIIb-IIIa complexes in the platelet membrane. J Clin Invest 1987; 79: 962-9.
8. French DL. The molecular genetics of Glanzmann's thrombasthenia. Platelets 1998; 9: 5-20.
9. Arias-Salgado EG, Butta N, González-Manchón C, Larrucea S, Ayuso MS, Parrilla P. Competition between normal [674C] and mutant [674R]GPIIb subunits: role of the molecular chaperone BiP in the processing of GPIIb-IIIa complexes. Blood 2001; 97: 2640-7.
10. Chomczynski P, Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987; 162: 156-9.
11. Tao J, Arias-Salgado EG, Gonzalez-Manchon C, Diaz-Cremades J, Ayuso MS, Parrilla R. A novel [288delC] mutation in exon 2 of GPIIb associated with type I Glanzmann thrombasthenia. Br J Haematol 2000; 111: 96-103.
12. Gibson UEM, Heid CA, Williams PM. A novel method for real time quantitative RT-PCR. Genome Res 1996; 6: 995-1001.
13. Mount SM. A catalogue of splice junction sequences. Nucl Acids Res 1982; 10: 459-72.
14. Oshima Y, Gotoh Y. Signals for the selection of a splice site in premRNA. Computer analysis of splice junction sequences and like sequences. J Mol Biol 1987; 195: 247-59.
15. Dietz HC, Valle D, Francomano CA, Kendzior RJ Jr, Pyeritz RE, Cutting GR. The skipping of constitutive exons in vivo induced by nonsense mutations. Science 1993; 259: 680-3.
16. Krawczak M, Reiss J, Cooper DN. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 1992; 90: 41-54.
17. Maquat LE. When cells stop making sense: effect of nonsense codons on RNA metabolism in vertebrate cells. RNA 1995; 1: 453-65.
18. Cheng J, Belgrader P, Zhou X, Maquat LE. Introns are cis effectors of the nonsense-codon-mediated reduction in nuclear mRNA abundance. Mol Cell Biol 1994; 14: 6317-25.
19. Vinciguerra C, Khelief A, Alemany M, Morle F, Grenier C, Uzan G, Guling D, Dechavanne M, Negrier C. A nonsense mutation in the GPIIb heavy chain (Ser870!STOP) impairs platelet GPIIb-IIIa expression. Br J Haematol 1996; 95: 399-407.
20. Tomiyama Y, Kashiwagi H, Kosugi S, Shigara 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 1995; 73: 756-62.
21. González-Manchón C, Fernández-Pinel M, Arias-Salgado EG, Ferrer M, Alvarez MV, García-Muñoz S, Ayuso MS, Parrilla R. Molecular genetic analysis of a compound heterozygote for the GPIIb gene associated with Glanzmann's trombasthenia. Disruption of the 674- 687 disulfide bridge in GPIIb prevents surface expression of GPIIb-IIIa. Blood 1999; 93: 866-75.
22. Kato A, Yamamoto K, Miazaki 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 classification of GT based on the biosynthetic pathway of glycoprotein Iib-IIIa complex. Blood 1992; 79: 3212-8.
23. Arias-Salgado EG, Tao J, González-Manchón C, Butta N, Vicente V, Sanchez-Ayuso M, Parrilla R. Nonsense mutation in exon-19 of GPIIb associated with thrombasthenic phenotype. Failure of GPIIb (D597- 1008) to form stable complexes with GPIIIa. Thromb Haemost 2002; 87: 684-91.
24. 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 1993; 83: 442-9.
25. Cooper DN. Human gene mutations affecting RNA processing and translation. Ann Med 1993; 25: 11-7.
26. Mitchell P, Tolervey D. mRNA turnover. Curr Opin Cell Biol 2001; 13: 320-5.