Insertion of a C in the exon 28 of integrin αIIb gene leading to a frameshift mutation is responsible for Glanzmann thrombasthenia in a Japanese case

Journal of Thrombosis and Haemostasis

Volumn 3, Issue 3, 2005, Pages 489-496

  Hayashi, Tomoya ^a   Tanaka, S ^a   Hori, Y ^a   Terada, C ^a   Ueda, Y ^b   Tani, Y ^a  

^a OSAKA RED CROSS HOSPITAL   (Japan)

^b KYOTO FIRST RED CROSS HOSPITAL   (Japan)

Author keywords

Frameshift mutation; Glanzmann thrombasthenia; Integrin IIb 3; Platelets

Indexed keywords

ALPHA2 INTEGRIN; BETA3 INTEGRIN; GENOMIC DNA; GREEN FLUORESCENT PROTEIN; MESSENGER RNA; PROTEIN ALPHA2B INTEGRIN; UNCLASSIFIED DRUG; CYTOSINE; GLYCOPROTEIN IIB;

AGED; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BLEEDING; CASE REPORT; CELL STRAIN COS7; DNA SEQUENCE; EXON; FLOW CYTOMETRY; FRAMESHIFT MUTATION; GENE INSERTION; GENETIC TRANSFECTION; GLANZMANN DISEASE; GOLGI COMPLEX; HETEROZYGOSITY; HUMAN; JAPAN; MALE; MUTATIONAL ANALYSIS; NONHUMAN; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN EXPRESSION; THROMBOCYTE; WESTERN BLOTTING; ANIMAL; CELL LINE; GENETICS; METABOLISM; NUCLEOTIDE SEQUENCE; PROTEIN TRANSPORT;

AGED; ANIMALS; CELL LINE; CYTOSINE; DNA MUTATIONAL ANALYSIS; EXONS; FRAMESHIFT MUTATION; GOLGI APPARATUS; HUMANS; INTEGRIN BETA3; JAPAN; MALE; PLATELET MEMBRANE GLYCOPROTEIN IIB; PROTEIN BINDING; PROTEIN TRANSPORT; THROMBASTHENIA; TRANSFECTION;

EID: 23944507160     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2005.01160.x     Document Type: Article

References (21)

1. Takagi J, Petre BM, Walz T, Springer TA. Global conformational rearrangements in integrin extracellular domains in outside-in and inside-out signaling. Cell 2002; 110: 599-11.
2. Kamata T, Takada Y. Platelet integrin alphaIIbbeta3 ligand interactions: what can we learn from the structure? Int J Hematol 2001; 74: 382-9.
3. George JN, Caen JP, Nurden AT. Glanzmann's thrombasthenia: the spectrum of clinical disease. Blood 1990; 75: 1383-95.
4. French DL, Coller BS. Hematologically important mutations: Glanzmann's thrombasthenia. Blood Cells Mol Dis 1997; 23: 39-51.
5. Tomiyama Y. Glanzmann thrombasthenia: integrin alpha IIb beta 3 deficiency. Int J Hematol 2000; 72: 448-54.
6. 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 1992; 79: 3212-18.
7. Sugawara K. Influence of Triton X-100 on protein determination by Lowry procedure. Arg Biol Chem 1975; 39: 2429-30.
8. Tomiyama Y, Kashiwagi H, Kosugi S, Shiraga M, Kinoshita S, Kanayama Y, Kurata Y, Matsuzawa Y. Demonstration of a marked reduction in the amount of GPIIb in most type II patients with Glanzmann's thrombasthenia. Br J Haematol 1994; 87: 119-24.
9. Newman PJ, Gorski J, White GCII, Gidwitz S, Cretney CJ, Aster RH. Enzymatic amplification of platelet-specific messenger RNA using the polymerase chain reaction. J Clin Invest 1988; 82: 739-43.
10. Poncz M, Eisman R, Heidenreich R, Silver SM, Vilaire G, Surrey S, Schwartz E, Bennett JS. Structure of the platelet membrane glycoprotein IIb. Homology to the subunits of the vitronectin and fibronectin membrane receptors. J Biol Chem 1987; 262: 8476-82.
11. Heidenreich R, Eisman R, Surrey S, Delgrosso K, Bennett JS, Schwartz E, Poncz M. Organization of the gene for platelet glycoprotein IIb. Biochemistry 1990; 29: 1232-44.
12. Duperray A, Berthier R, Chagnon E, Ryckewaert JJ, Ginsberg M, Plow E, Marguerie G. Biosynthesis and processing of platelet GPIIb-IIIa in human megakaryocytes. J Cell Biol 1987; 104: 1665-73.
13. Rosa JP, Rodger DM. Processing and assembly of the integrin, glycoprotein IIb-IIIa, in HEL cell. J Biol Chem 1989; 264: 12596-603.
14. Loh E, Qi W, Vilaire G, Bennett JS. Effect of cytoplasmic domain mutations on the agonist-stimulated ligand binding activity of the platelet integrin αIIbβ3. J Biol Chem 1996; 271: 30233-41.
15. O'Toole TE, Katagiri Y, Faull RJ, Peter K, Tamura R, Quaranta V, Loftus JC, Shattil SJ, Ginsberg MH. Integrin cytoplasmic domains mediate inside-out signal trunsduction. J Cell Biol 1994; 124: 1047-59.
16. Lam SC-T, Plow EF, Ginsberg MH. Platelet membrane glycoprotein IIb heavy chain forms a complex with glycoprotein IIIa that binds Arg-Gly-Asp peptides. Blood 1989; 73: 1513-18.
17. McKay Annis DS, Honda S, Christie D, Kunicki TJ. Molecular requirements for assembly and function of a minimized human integrin αIIbβ3. J Biol Chem 1996; 271: 30544-7.
18. Klausner RD, Sitia R. Protein degradation in the endoplasmic reticulum. Cell 1990; 62: 611-14.
19. Lodish HF. Transport of secretory and membrane glycoproteins from the rough endoplasmic reticulum to the Golgi. J Biol Chem 1988; 263: 2107-10.
20. Scott JP III, Scott JPII, Chao Y-L, Newman PJ, Ward CM. A frameshift mutation at Gly975 in the transmembrane domain of GPIIb prevents GPIIb-IIIa expression-analysis of two novel mutations in a kindred with type I Glanzmann thrombasthenia. Thromb Haemost 1998; 80: 546-50.
21. Alberts B, Bray D, Lewis J, Raff M, Roberts K, Watson JD. In: Molecular Biology of the Cell, 3rd edn. New York and London: Garland Publishing, Inc., 1994: 604-5.