Human Thromboxane A2 Receptor Genetic Variants: In Silico, In Vitro and "In Platelet" Analysis

PLoS ONE

Volumn 8, Issue 6, 2013, Pages

  Gleim, Scott ^a   Stitham, Jeremiah ^a   Tang, Wai Ho ^a   Li, Hong ^b   Douville, Karen ^b   Chelikani, Prashen ^c   Rade, J Jeffrey ^d   Martin, Kathleen A ^a   Hwa, John ^a,b  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b DARTMOUTH MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF MANITOBA   (Canada)

^d UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

THROMBOXANE A2 RECEPTOR; ACETYLSALICYLIC ACID; PHOSPHOPROTEIN; PROSTAGLANDIN SYNTHASE INHIBITOR; PROTEOME; THROMBOXANE;

ARTICLE; BIOCHEMISTRY; COMPUTER MODEL; DNA POLYMORPHISM; DNA SEQUENCE; FLOW CYTOMETRY; GENETIC VARIABILITY; HUMAN; HYPERACTIVITY; IN VITRO STUDY; MEGAKARYOCYTE; PREDICTION; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN STRUCTURE; RISK FACTOR; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS; THROMBOCYTE; THROMBOCYTE ACTIVATION; THROMBOCYTE FUNCTION; THROMBOSIS; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BINDING COMPETITION; BINDING SITE; CELL LINE; CHEMICAL STRUCTURE; CHEMISTRY; DRUG EFFECTS; GENETIC ASSOCIATION; GENETICS; METABOLISM; MOLECULAR GENETICS; PHYSIOLOGY; PROTEIN SECONDARY STRUCTURE; PROTEIN TERTIARY STRUCTURE; SIGNAL TRANSDUCTION; DRUG EFFECT;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ASPIRIN; BINDING SITES; BINDING, COMPETITIVE; BLOOD PLATELETS; CELL LINE; CYCLOOXYGENASE INHIBITORS; GENETIC ASSOCIATION STUDIES; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; PHOSPHOPROTEINS; PLATELET ACTIVATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; PROTEOME; RECEPTORS, THROMBOXANE A2, PROSTAGLANDIN H2; SIGNAL TRANSDUCTION; THROMBOXANES;

EID: 84879514460     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0067314     Document Type: Article

References (45)

1. Roger VL, Go AS, Lloyd-Jones DM, Adams RJ, Berry JD, et al. (2012) Heart Disease and Stroke Statistics-2011 Update: A Report From the American Heart Association. Circulation 125(22): e1002.
2. Fitzgerald GA, (2004) Coxibs and cardiovascular disease. N Engl J Med 351: 1709-1711.
3. Cheng Y, Austin SC, Rocca B, Koller BH, Coffman TM, et al. (2002) Role of prostacyclin in the cardiovascular response to thromboxane A2. Science 296: 539-541.
4. Ferroni P, Basili S, Falco A, Davi G, (2004) Platelet activation in type 2 diabetes mellitus. J Thromb Haemost 2: 1282-1291.
5. Davi G, Catalano I, Averna M, Notarbartolo A, Strano A, et al. (1990) Thromboxane biosynthesis and platelet function in type II diabetes mellitus. N Engl J Med 322: 1769-1774.
6. Huang RY, Chen GG, (2011) Cigarette smoking, cyclooxygenase-2 pathway and cancer. Biochim Biophys Acta 15(2): 158-69.
7. Xie YH, Wang SW, Zhang Y, Edvinsson L, Xu CB, (2010) Up-regulation of G-protein-coupled receptors for endothelin and thromboxane by lipid-soluble smoke particles in renal artery of rat. Basic Clin Pharmacol Toxicol 107: 803-812.
8. Calapai G, Caputi AP, Mannucci C, Gregg EO, Pieratti A, et al. (2009) A cross-sectional investigation of biomarkers of risk after a decade of smoking. Inhal Toxicol 21: 1138-1143.
9. Bordeaux BC, Qayyum R, Yanek LR, Vaidya D, Becker LC, et al. (2010) Effect of obesity on platelet reactivity and response to low-dose aspirin. Prev Cardiol 13: 56-62.
10. Goodwill AG, James ME, Frisbee JC, (2008) Increased vascular thromboxane generation impairs dilation of skeletal muscle arterioles of obese Zucker rats with reduced oxygen tension. Am J Physiol Heart Circ Physiol 295: H1522-1528.
11. Ridker PM, Cook NR, Lee IM, Gordon D, Gaziano JM, et al. (2005) A randomized trial of low-dose aspirin in the primary prevention of cardiovascular disease in women. N Engl J Med 352: 1293-1304.
12. Kobayashi T, Tahara Y, Matsumoto M, Iguchi M, Sano H, et al. (2004) Roles of thromboxane A2 and prostacyclin in the development of atherosclerosis in apo-E deficient mice. J Clin Invest 114: 784-794.
13. Hirata M, Hayashi Y, Ushikubi F, Yokota Y, Kageyama R, et al. (1991) Cloning and expression of cDNA for a human thromboxane A2 receptor. Nature 349: 617-620.
14. Raychowdhury MK, Yukawa M, Collins LJ, McGrail SH, Kent KC, et al. (1994) Alternative splicing produces a divergent cytoplasmic tail in the human endothelial thromboxane A2 receptor. J Biol Chem 269: 19256-19261.
15. Hirata T, Ushikubi F, Kakizuka A, Okuma M, Narumiya S, (1996) Two thromboxane A2 receptor isoforms in human platelets. Opposite coupling to adenylyl cyclase with different sensitivity to Arg60 to Leu mutation. J Clin Invest 97: 949-956.
16. Parent JL, Labrecque P, Orsini MJ, Benovic JL, (1999) Internalization of the TXA2 receptor alpha and beta isoforms. Role of the differentially spliced cooh terminus in agonist-promoted receptor internalization. J Biol Chem 274: 8941-8948.
17. Funk CD, Furci L, Moran N, Fitzgerald GA, (1993) Point mutation in the seventh hydrophobic domain of the human thromboxane A2 receptor allows discrimination between agonist and antagonist binding sites. Mol Pharmacol 44: 934-939.
18. D'Angelo DD, Eubank JJ, Davis MG, Dorn GW 2nd, (1996) Mutagenic analysis of platelet thromboxane receptor cysteines. Roles in ligand binding and receptor-effector coupling. J Biol Chem 271: 6233-6240.
19. Chiang N, Kan WM, Tai HH, (1996) Site-directed mutagenesis of cysteinyl and serine residues of human thromboxane A2 receptor in insect cells. Arch Biochem Biophys 334: 9-17.
20. Chiang N, Tai HH, (1998) The role of N-glycosylation of human thromboxane A2 receptor in ligand binding. Arch Biochem Biophys 352: 207-213.
21. Hong SJ, Lee SY, Kim HB, Kim JH, Kim BS, et al. (2005) IL-5 and thromboxane A2 receptor gene polymorphisms are associated with decreased pulmonary function in Korean children with atopic asthma. J Allergy Clin Immunol 115: 758-763.
22. Leung TF, Tang NL, Lam CW, Li AM, Chan IH, et al. (2002) Thromboxane A2 receptor gene polymorphism is associated with the serum concentration of cat-specific immunoglobulin E as well as the development and severity of asthma in Chinese children. Pediatr Allergy Immunol 13: 10-17.
23. Unoki M, Furuta S, Onouchi Y, Watanabe O, Doi S, et al. (2000) Association studies of 33 single nucleotide polymorphisms (SNPs) in 29 candidate genes for bronchial asthma: positive association a T924C polymorphism in the thromboxane A2 receptor gene. Hum Genet 106: 440-446.
24. Tanaka K, Roberts MH, Yamamoto N, Sugiura H, Uehara M, et al. (2002) Genetic variants of the receptors for thromboxane A2 and IL-4 in atopic dermatitis. Biochem Biophys Res Commun 292: 776-780.
25. Hirata T, Kakizuka A, Ushikubi F, Fuse I, Okuma M, et al. (1994) Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder. J Clin Invest 94: 1662-1667.
26. Ng PC, Henikoff S, (2003) SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Research 31: 3812-3814.
27. Bromberg Y, Rost B, (2007) SNAP: predict effect of non-synonymous polymorphisms on function. Nucleic Acids Research 35: 3823-3835.
28. Ramensky V, Bork P, Sunyaev S, (2002) Human nonsynonymous SNPs: server and survey. Nucleic Acids Research 30: 3894-3900.
29. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nat Meth 7: 248-249.
30. Yue P, Melamud E, Moult J (2006) SNPs3D: candidate gene and SNP selection for association studies. BMC Bioinformatics 22.
31. Binkley J, Karra K, Kirby A, Hosobuchi M, Stone E, et al. (2010) ProPhylER: A curated online resource for protein function and struction based on evolutionary constraint analyses. Genome Research 20: 142-154.
32. Grantham R, (1974) Amino Acid Difference Formula to Help Explain Protein Evolution. Science 185: 862-864.
33. Schwarz JM, Rodelsperger C, Schuelke M, Seelow D, (2010) MutationTaster evaluates disease-causing potential of sequence alterations. Nat Meth 7: 575-576.
34. Arehart E, Stitham J, Asselbergs FW, Douville K, MacKenzie T, et al. (2008) Acceleration of cardiovascular disease by a dysfunctional prostacyclin receptor mutation: potential implications for cyclooxygenase-2 inhibition. Circ Res 102: 986-993.
35. Tymkewycz P, Jones R, Wilson N, Marr C, (1991) Heterogeneity of thromboxane A2 (TP-) receptors: evidence from antagonist but not agonist potency measurements. Br J Pharmacol 102: 607-614.
36. Tang WH, Stitham J, Gleim S, Di Febbo C, Porreca E, et al. (2011) Glucose and collagen regulate human platelet activity through aldose reductase induction of thromboxane. J Clin Invest 121: 4462-4476.
37. Tsakiris DA, Scudder L, Hodivala-Dilke K, Hynes RO, Coller BS, (1999) Hemostasis in the mouse (Mus musculus): a review. Thromb Haemost 81: 177-188.
38. Nunn B, (1981) Some characteristics of mouse platelet aggregation and a comparison of the activity of a range of compounds in mouse and human platelet-rich plasma in vitro. Thromb Haemost 45: 1-5.
39. Mumford AD, Dawood BB, Daly ME, Murden SL, Williams MD, et al. (2010) A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis. Blood 115: 363-369.
40. Chakraborty R, Pydi SP, Gleim S, Dakshinamurti S, Hwa J, et al. (2012) Site-directed mutations and the polymorphic variant Ala160Thr in the human thromboxane receptor uncover a structural role for transmembrane helix 4. PLoS One 7: e29996.
41. Pedersen AK, FitzGerald GA, (1984) Dose-related kinetics of aspirin. Presystemic acetylation of platelet cyclooxygenase. N Engl J Med 311: 1206-1211.
42. Mumford AD, Dawood BB, Daly ME, Murden SL, Williams MD, et al. (2010) A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis. Blood 115: 363-369.
43. Ulrich CM, Carlson CS, Sibert J, Poole EM, Yu JH, et al. (2005) Thromboxane synthase (TBXAS1) polymorphisms in African-American and Caucasian populations: evidence for selective pressure. Hum Mutat 26: 394-395.
44. Chevalier D, Lo-Guidice JM, Sergent E, Allorge D, Debuysere H, et al. (2001) Identification of genetic variants in the human thromboxane synthase gene (CYP5A1). Mutat Res 432: 61-67.
45. Baek SJ, Lee KD, Shen RF, (1996) Genomic structure and polymorphism of the human thromboxane synthase-encoding gene. Gene 173: 251-256.