A functional polymorphism at the transcriptional initiation site in β2-glycoprotein I (apolipoprotein H) associated with reduced gene expression and lower plasma levels of β2-glycoprotein I

European Journal of Biochemistry

Volumn 270, Issue 2, 2003, Pages 230-238

  Mehdi, Haider ^a   Manzi, Susan ^b   Desai, Purnima ^b   Chen, Qi ^b   Nestlerode, Cara ^b   Bontempo, Franklin ^b   Strom, Stephen C ^b   Zarnegar, Reza ^b   Kamboh, M Ilyas ^b  

^a UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^b NONE

Author keywords

2 glycoprotein I; Anti phospholipid antibodies; Apolipoprotein H; Lupus; Polymorphism

Indexed keywords

BETA2 GLYCOPROTEIN 1; LUCIFERASE; PHOSPHOLIPID ANTIBODY;

ADULT; ARTICLE; CONTROLLED STUDY; DNA FLANKING REGION; FEMALE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN TISSUE; LUPUS VULGARIS; MAJOR CLINICAL STUDY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN POLYMORPHISM; REPORTER GENE; TRANSCRIPTION INITIATION SITE;

ANTIBODIES; BETA 2-GLYCOPROTEIN I; GENES, REPORTER; GLYCOPROTEINS; HUMANS; PHOSPHOLIPIDS; POINT MUTATION; POLYMORPHISM, GENETIC; PROTEIN BINDING; TRANS-ACTIVATORS; TRANSCRIPTION INITIATION SITE;

EID: 0037244908     PISSN: 00142956     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1432-1033.2003.03379.x     Document Type: Article

References (40)

1. 2 Globulin des Humanserums. Naturwissenschaften 48, 719.
2. 2-glycoprotein I to human serum lipoproteins: Distribution among density fractions. FEBS Lett. 102, 183-186.
3. 2-glycoprotein I to intralipid: Distribution of the dissociation constant. Biochem. Biophys. Res. Commun. 90, 1305-1312.
4. 2-glycoprotein I (apolipoprotein H) gene. Eur. J. Biochem. 259, 435-440.
5. 2-glycoprotein I. Proc. Natl Acad. Sci. USA 81, 3640-3364.
6. Mehdi, H., Nunn, M., Steel, D.M., Whitehead, A.S., Perez, M., Walker, L. & Peeples, M.E. (1991) Nucleotide sequence and expression of the human gene encoding apolipoprotein H. Gene 108, 293-298.
7. 2-glycoprotein I cDNA. FEBS Lett. 289, 183-186.
8. 2-glycoprotein I. Biochem. J. 277, 387-391.
9. Davie, E.W., Ichinose, A. & Leytus, S.P. (1986) Structural features of the proteins participating in blood coagulation and fibrinolysis. Cold Spring Harbor Symposium on Quantitative Biology, LI, pp. 509-514. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
10. Ichinose, A., Bottenus, R.E. & Davie, E.W. (1990) Structure of transglutaminases. J. Biol. Chem. 265, 13411-13414.
11. Klickenstein, L.B., Wong, W.W., Smith, J.A., Weis, J.H., Wilson, J.G. & Fearon, D.T. (1987) Human C3b/C4b receptor (CR1) demonstration of long homologous repeating domains that are composed of the short consensus repeats characteristic of C3/C4 binding proteins. J. Exp. Med. 165, 2095-1112.
12. Kristensen, T., Deustachio, P., Ogato, R.T., Chung, L.P., Reid, K.B.M. & Tack, B.F. (1987) The superfamily of C3b/C4b-binding proteins. Federation Proc. 46, 2463-2469.
13. 2-glycoprotein I: a plasma inhibitor of the contact activation of the intrinsic blood coagulation pathway. Blood 66, 1086-1091.
14. 2-glycoprotein I. Biochim. Biophys. Acta 884, 142-149.
15. 2-glycoprotein I on the activation. Int. J. Biochem. 20, 309-315.
16. 2-glycoprotein I on the dextran sulfate and sulfatide activation of the contact system (Hageman factor system) in the blood coagulation. Int. J. Biochem. 20, 787-792.
17. Halkier, T. & Magnussen, S. (1988) Contact activation of blood coagulation is inhibited by plasma factor XIIIb-chain. Thromb. Res. 51, 313-324.
18. 2-glycoprotein I deficiency and the risk of thrombosis. Thromb. Haemos. 67, 649-653.
19. 2-glycoprotein I deficiency: prevalence, genetic background and effects on plasma lipoprotein metabolism and hemostasis. Atherosclerosis 152, 337-346.
20. 2-glycoprotein I null mice. J. Biol. Chem. 276, 13817-13821.
21. Galli, M., Confurius, P., Maassen, C., Hemker, H.C., DeBaets, M.H., van Breda-Vriesman, P.J.C., Barbui, T., Zwaal, R.F.A. & Beveres, E.M. (1990) Anticadiolipin antibodies (ACA) directed not to cardiolipin but to a plasma protein cofactor. Lancet 335, 1544-1547.
22. 2-glycoprotein I (apolipoprotein H). Proc. Natl Acad. Sci. USA 87, 4120-4124.
23. 2-glycoprotein I (apolipoprotein H) as cofactor. J. Rhematol. 19, 1397-1402.
24. 2(-glycoprotein I. J. Clin. Invest. 90, 1100-1104.
25. 2-glycoprotein I in patients with primary anti-phospholipid syndrome. J. Rheumatol. 22, 1894-1898.
26. 2-glycoprotein I of human serum. Hum. Genet. 5, 294-304.
27. 2-glycoprotein I polymorphism. Hum. Genet. 9, 164-171.
28. 2-glycoprotein I levels and phenotypes) in a sample of Australian Caucasian adults. Hum. Genet. 43, 281-288.
29. 2-glycoprotein I. Hum. Hered. 29, 236-241.
30. 2-glycoprotein I) gene affects plasma apolipoprotein H concentrations. Hum. Genet. 105, 63-71.
31. 2-glycoprotein I) affects the occurrence of anti-phospholipid antibodies and apolipoprotein H concentrations in systemic lupus erythematosus. Lupus 8, 742-750.
32. 2-glycoprotein I) is crucial for cardiolipin binding. Eur. J. Biochem. 267, 1770-1776.
33. Luedecking, E.K., DeKosky, S.T., Mehdi, H., Ganguli, M. & Kamboh, M.I. (2000) Analysis of genetic polymorphisms in the transforming growth factor-β1 gene and the risk of Alzheimer's disease. Hum. Genet. 106, 565-569.
34. Mehdi, H., Ono, E. & Gupta, K.C. (1990) Initiation of translation at CUG, GUG, and ACG codons in mammalian cells. Gene 91, 173-178.
35. Liu, Y., Beedle, A.B., Lin, L., Bell, A.W. & Zarnegar, R. (1994) Identification of a cell-type-specific transcriptional repressor in the promoter region of the mouse hepatocyte growth factor gene. Mol. Cell. Biol. 14, 7046-7058.
36. Jiang, J.G., Bell, A., Liu, Y. & Zarnegar, R. (1997) Transcriptional regulation of the HGF gene by COUP-TF and estrogen receptor. J. Biol. Chem. 272, 3928-3934.
37. Lewontin, R.C. (1964) The interaction of selection and linkage. I. General considerations; heterotic models. Genetics 49, 49-67.
38. Eiberg, H., Nielsen, L.S. & Mohr, J. (1989) Exclusion mapping of apolipoprotein H (APOH) and relationship between electro-phorative polymorphism. Cytogenet. Cell. Genet. 51, 994.
39. Kamboh, M.I., Ferrell, R.E. & Sephernia, B. (1988) Genetic studies of human apolipoproteins. IV. Structural heterogeneity of apolipoprotein H(β2-glycoprotein I). Am. J. Hum. Genet. 42, 452-457.
40. Lo, K. & Smale, S.T. (1996) Generality of a functional initiator consensus sequence. Gene 182, 13-22.