Genetic variants of the extra-large stimulatory Gs protein alpha-subunit and risk of thrombotic and haemorrhagic disorders

British Journal of Haematology

Volumn 125, Issue 5, 2004, Pages 621-628

  Gonzalez Conejero R ^a,c   Corral, J ^a   Guerrero, J A ^a   Iniesta, J A ^a,b   Rivera, J ^a   De Arriba, F ^a   Vicente, V ^a  

^a UNIVERSITY OF MURCIA   (Spain)

^b HOSPITAL GENERAL UNIVERSITARIO REINA SOFÍA   (Spain)

^c HOSPITAL UNIVERSITARIO MORALES MESEGUER   (Spain)

Author keywords

Bleeding disorders; Genetic imprinting; Genetics of thrombosis and haemostasis; Molecular analysis; Platelet function

Indexed keywords

GENOMIC DNA; GUANINE NUCLEOTIDE BINDING PROTEIN; SMAD PROTEIN;

ADULT; AGED; ALLELE; ALPHA CHAIN; ARTICLE; BLEEDING DISORDER; BLEEDING TENDENCY; BRAIN HEMORRHAGE; CEREBROVASCULAR DISEASE; CONTROLLED STUDY; DEEP VEIN THROMBOSIS; DNA POLYMORPHISM; FEMALE; GENE IDENTIFICATION; GENE INSERTION SEQUENCE; GENE LOSS; GENE OVEREXPRESSION; GENETIC RISK; GENETIC VARIABILITY; GENOME IMPRINTING; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PATIENT SELECTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN METHYLATION; RISK FACTOR; THROMBOCYTE FUNCTION;

AGED; BLOOD PLATELETS; CYCLIC AMP; DNA METHYLATION; FEMALE; GENE FREQUENCY; GENOTYPE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HEMORRHAGE; HUMANS; MALE; MEDITERRANEAN REGION; MIDDLE AGED; PEDIGREE; POLYMORPHISM, GENETIC; RISK FACTORS; THROMBOSIS;

EID: 2942514466     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2004.04947.x     Document Type: Article

References (25)

1. Adams, R.D., Victor, M. & Ropper, A.H. (1997) Cerebrovascular diseases. In: Principles of Neurology (ed. by R.D. Adams, M. Victor & A.H. Ropper), pp. 777-873. McGraw-Hill, New York, NY.
2. Bastepe, M., Gunes, Y., Perez-Villamil, B., Hunzelman, J., Weinstein, L.S. & Juppner, H. (2002) Receptor-mediated adenylyl cyclase activation through XLalpha(s), the extra-large variant of the stimulatory G protein alpha-subunit. Molecular Endocrinology, 16, 1912-1919.
3. Bomsel, M. & Mostov, K. (1992) Role of heterotrimeric G proteins in membrane traffic. Molecular Biology of the Cell, 3, 1317-1328.
4. Bray, P.F. (2000) Platelet glycoprotein polymorphisms as risk factors for thrombosis. Current Opinion in Hematology, 7, 284-289.
5. Corral, J., Iniesta, J.A., Gonzalez-Conejero, R. & Vicente, V. (1996) Detection of factor V Leiden from a drop of blood by PCR-SSCP. Thrombosis and Haemostasis, 76, 735-737.
6. Corral, J., González-Conejero, R., Lozano, M.L., Rivera, J. & Vicente, V. (1998) New alleles of the platelet glycoprotein Ibalpha gene. Bristh Journal of Haematology, 103, 997-1003.
7. Corral, J., Gonzalez-Conejero, R., Rivera, J., Ortuño, F., Aparicio, P. & Vicente, V. (1999) Role of the 807 C/T polymorphism of the alpha2 gene in platelet GP Ia collagen receptor expression and function-effect in thromboembolic diseases. Thrombosis and Haemostasis, 81, 951-956.
8. Corral, J., Iniesta, J.A., Gonzalez-Conejero, R., Villalon, M. & Vicente, V. (2001) Polymorphisms of clotting factors modify the risk for primary intracranial hemorrhage. Blood, 97, 2979-2982.
9. Farfel, Z., Bourne, H.R. & Iiri, T. (1999) The expanding spectrum of G protein diseases. New England Journal of Medicine, 340, 1012-1020.
10. Freson, K., Hoylaerts, M.F., Jaeken, J., Eyssen, M., Arnout, J., Vermylen, J. & Van Geet, C. (2001) Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding. Thrombosis and Haemostasis, 86, 733-738.
11. Freson, K., Jaeken, J., Van Helvoirt, M., De Zegher, F., Wittevrongel, C., Thys, C., Hoylaerts, M.F., Vermylen, J. & Van Geet, C. (2003) Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation. Human Molecular Genetics, 12, 1121-1130.
12. Gonzalez-Conejero, R., Lozano, M.L., Rivera, J., Corral, J., Iniesta, J.A., Moraleda, J.M. & Vicente, V. (1998) Polymorphisms of platelet membrane glycoprotein Ib associated with arterial thrombotic disease. Blood, 92, 2771-2776.
13. Hayward, B.E. & Bonthron, D.T. (2000) An imprinted antisense transcript at the human GNAS1 locus. Human Molecular Genetics, 9, 835-841.
14. Hayward, B.E., Moran, V., Strain, L. & Bonthron, D.T. (1998) Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proceedings of the National Academy of Sciences of the United Stated of America, 95, 15475-15480.
15. Klemke, M., Kehlenbach, R.H. & Huttner, W.B. (2001) Two overlapping reading frames in a single exon encode interacting proteins-a novel way of gene usage. The EMBO Journal, 20, 3849-3860.
16. Lozano, M.L., Gonzalez-Conejero, R., Corral, J., Rivera, J., Iniesta, J.A., Martinez, C. & Vicente, V. (2001) Polymorphisms of P-selectin glycoprotein ligand-1 are associated with neutrophil-platelet adhesion and with ischaemic cerebrovascular disease. British Journal of Haematology, 115, 969-976.
17. Ma, Y.C., Huang, J., Ali, S., Lowry, W. & Huang, X.Y. (2000) Src Tyrosine Kinase Is a Novel Direct Effector of G Proteins. Cell, 102, 635-646.
18. Mattera, R., Graziano, M.P., Yatani, A., Zhou, Z., Graf, R., Codina, J., Birnbaumer, L., Gilman, A.G. & Brown, A.M. (1989) Splice variants of the alpha subunit of the G protein Gs activate both adenylyl cyclase and calcium channels. Science, 243, 804-807.
19. Special report from the National Institute of Neurological Disorders and Stroke. (1990) Classification of Cerebrovascular Diseases III. Stroke, 21, 637-676.
20. Nurden, A.T. & Nurden, P. (2001) Inherited defects of platelet function. Reviews in Clinical and Experimental Hematology, 5, 314-334.
21. Pasolli, H.A., Klemke, M., Kehlenbach, R.H., Wang, Y. & Huttner, W.B. (2000) Characterization of the extra-large G protein alpha-subunit XLalphas. I. Tissue distribution and subcellular localization. The Journal of Biological Chemistry, 275, 33622-33632.
22. Paulsen, M. & Ferguson-Smith, A.C. (2001) DNA methylation in genomic imprinting, development, and disease. The Journal of Pathology, 195, 97-110.
23. Shenker, A., Goldsmith, P., Unson, C.G. & Spiegel, A.M. (1991) The G protein coupled to the thromboxane A2 receptor in human platelets is a member of the novel Gq family. The Journal of Biological Chemistry, 266, 9309-9313.
24. Wedegaertner, P.B., Wilson, P.T. & Bourne, H.R. (1995) Lipid modifications of trimeric G proteins. The Journal of Biological Chemistry, 270, 503-506.
25. Weinstein, L.S., Chen, M. & Liu, J. (2002) Gs(alpha) mutations and imprinting defects in human disease. Annals of the New York Academy of Sciences, 968, 173-197.