Functional comparison of the endothelial nitric oxide synthase Glu 298Asp polymorphic variants in human endothelial cells

Pharmacogenetics

Volumn 14, Issue 12, 2004, Pages 831-839

  McDonald, Denise M ^a,b   Alp, Nicholas J ^a   Channon, Keith M ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

Author keywords

Atherosclerosis; Endothelium; Green fluorescent protein; Nitric oxide synthase; Polymorphism

Indexed keywords

ASPARTIC ACID; BIOPTERIN; BUFFER; CALCIUM IONOPHORE; ESTROGEN; GLUTAMIC ACID; GREEN FLUORESCENT PROTEIN; HYBRID PROTEIN; NITRIC OXIDE; NITRIC OXIDE SYNTHASE; PROTEIN;

ADENOVIRUS; ARTICLE; ATHEROSCLEROSIS; CELLULAR DISTRIBUTION; ENDOTHELIUM CELL; ENZYME REGULATION; FLUORESCENCE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN INTERACTION; SITE DIRECTED MUTAGENESIS; WESTERN BLOTTING;

ADENOVIRIDAE; AMINO ACID SUBSTITUTION; ASPARTIC ACID; BLOTTING, WESTERN; CELLS, CULTURED; ELECTROPHORESIS, POLYACRYLAMIDE GEL; ENDOTHELIUM, VASCULAR; GREEN FLUORESCENT PROTEINS; HUMANS; LUMINESCENT PROTEINS; MICROSCOPY, CONFOCAL; MUTAGENESIS, SITE-DIRECTED; NITRIC OXIDE; NITRIC OXIDE SYNTHASE; POLYMORPHISM, GENETIC; RECOMBINANT FUSION PROTEINS; STRUCTURE-ACTIVITY RELATIONSHIP; VARIATION (GENETICS);

EID: 11144222283     PISSN: 0960314X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008571-200412000-00006     Document Type: Article

References (29)

1. Guzik TJ, Black E, West NE, McDonald D, Ratnatunga C, Pillai R, Channon KM. Relationship between the G894T polymorphism (Glu298Asp variant) in endothelial nitric oxide synthase and nitric oxide-mediated endothelial function in human atherosclerosis. Am J Med Genet 2001; 100:130-137.
2. Philip I, Plantefeve G, Vuillaumier-Barrot S, Vicaut E, LeMarie C, Henrion D, et al. G894T polymorphism in the endothelial nitric oxide synthase gene is associated with an enhanced vascular responsiveness to phenylephrine. Circulation 1999; 99:3096-3098.
3. Noiri E, Satoh H, Taguchi J, Brodsky SV, Nakao A, Ogawa Y, et al. Association of eNOS Glu298Asp polymorphism with end-stage renal disease. Hypertension 2002; 40:535-540.
4. Tesauro M, Thompson WC, Rogliani P, Qi L, Chaudhary PP, Moss J. Intracellular processing of endothelial nitric oxide synthase isoforms associated with differences in severity of cardiopulmonary diseases: cleavage of proteins with aspartate versus glutamate at position 298. Proc Natl Acad Sci USA 2000; 97:2832-2835.
5. Persu A, Stoenoiu MS, Messiaen T, Davila S, Robino C, El-Khattabi O, et al. Modifier effect of eNOS in autosomal dominant polycystic kidney disease. Hum Mol Genet 2002; 11:229-241.
6. Fairchild TA, Fulton D, Fontana JT, Gratton JP, McCabe TJ, Sessa WC. Acidic hydrolysis as a mechanism for the cleavage of the Glu(298)Asp variant of human endothelial nitric-oxide synthase. J Biol Chem 2001; 276:26674-26679.
7. Song J, Yoon Y, Park KU, Park J, Hong YJ, Hong SH, Kim JQ. Genotype-specific influence on nitric oxide synthase gene expression, protein concentrations, and enzyme activity in cultured human endothelial cells. Clin Chem 2003; 49:847-852.
8. Tanus-Santos JE, Desai M, Deak LR, Pezzullo JC, Abernethy DR, Flockhart DA, Freedman JF. Effects of endothelial nitric oxide synthase gene polymorphisms on platelet function, nitric oxide release, and interactions with estradiol. Pharmacogenetics 2002; 12:407-413.
9. Golser R, Gorren AC, Mayer B, Schmidt K. Functional characterization of Glu298Asp mutant human endothelial nitric oxide synthase purified from a yeast expression system. Nitric Oxide 2003; 8:7-14.
10. Fischmann TO, Hruza A, Niu XD, Fossetta JD, Lunn CA, Dolphin E, et al. Structural characterization of nitric oxide synthase isoforms reveals striking active-site conservation. Nature Struct Biol 1999; 6:233-242.
11. 2+-calmodulin and caveolin. J Biol Chem 1997; 272:15583-15586.
12. Garcia-Cardena G, Oh P, Liu JW, Schnitzer JE, Sessa WC. Targeting of nitric oxide synthase to endothelial cell caveolae via palmitoylation - implications for nitric oxide signaling. Proc Natl Acad Sci USA 1996; 93:6448-6453.
13. Liu J, Hughes TE, Sessa WC. The first 35 amino acids and fatty acylation sites determine the molecular targeting of endothelial nitric oxide synthase into the golgi region of cells: a green fluorescent protein study. J Cell Biol 1997; 137:1525-1535.
14. Sowa G, Liu J, Papapetropoulos A, Rex-Haffner M, Hughes TE, Sessa WC. Trafficking of endothelial nitric-oxide synthase in living cells: quantitative evidence supporting the role of palmitoylation as a kinetic trapping mechanism limiting membrane diffusion. J Biol Chem 1999; 274:22524-22531.
15. van Haperen R, Cheng C, Mees BM, van Deel E, de Waard M, van Damme LC, et al. Functional expression of endothelial nitric oxide synthase fused to green fluorescent protein in transgenic mice. Am J Pathol 2003; 163:1677-1686.
16. He TC, Zhou S, da Costa LT, Yu J, Kinzler KW, Vogelstein B. A simplified system for generating recombinant adenoviruses. Proc Natl Acad Sci USA 1998; 95:2509-2514.
17. Channon KM, Blazing MA, Shetty GA, Potts KE, George SE. Adenoviral gene transfer of nitric oxide synthase: high level expression in human vascular cells. Cardiovasc Res 1996; 32:962-972.
18. Klatt P, Schmidt K, Lehner D, Glatter O, Bachinger HP, Mayer B. Structural analysis of porcine brain nitric oxide synthase reveals a role for tetrahydrobiopterin and L-arginine in the formation of an SDS-resistant dimer. EMBO J 1995; 14:3687-3695.
19. Cai S, Alp NJ, Mc Donald D, Canevari L, Heales S, Channon KM. GTP cyclohydrolase I gene transfer augments intracellular tetrahydrobiopterin in human endothelial cells: effects on nitric oxide synthase activity, protein levels and dimerization. Cardiovasc Res 2002; 55:838-849.
20. Dedio J, Konig P, Wohlfart P, Schroeder C, Kummer W, Muller-Esterl W. NOSIP, a novel modulator of endothelial nitric oxide synthase activity. FASEB J 2001; 15:79-89.
21. Oh MK, Scoles DR, Haipek C, Strand AD, Gutmann DH, Olson JM, Pulst SM. Genetic heterogeneity of stably transfected cell lines revealed by expression profiling with oligonucleotide microarrays. J Cell Biochem 2003; 90:1068-1078.
22. Chambliss KL, Yuhanna IS, Mineo C, Liu P, German Z, Sherman TS, et al. Estrogen receptor alpha and endothelial nitric oxide synthase are organized into a functional signaling module in caveolae. Circ Res 2000; 87:E44-E52.
23. 2+- independent activation of the endothelial nitric oxide synthase in response to tyrosine phosphatase inhibitors and fluid shear stress. Circ Res 1998; 82:686-695.
24. Garcia-Cardena G, Martasek P, Masters BS, Skidd PM, Couet J, Li S, et al. Dissecting the interaction between nitric oxide synthase (NOS) and caveolin. Functional significance of the NOS caveolin binding domain in vivo. J Biol Chem 1997; 272:25437-25440.
25. Fontana J, Fulton D, Chen Y, Fairchild TA, McCabe TJ, Fujita N, et al. Domain mapping studies reveal that the M domain of hsp90 serves as a molecular scaffold to regulate Akt-dependent phosphorylation of endothelial nitric oxide synthase and NO release. Circ Res 2002; 3:866-873.
26. Russell KS, Haynes MP, Caulin-Glaser T, Rosneck J, Sessa WC, Bender JR. Estrogen stimulates heat shock protein 90 binding to endothelial nitric oxide synthase in human vascular endothelial cells. Effects on calcium sensitivity and NO release. J Biol Chem: 2000; 275:5026-5030.
27. Sessa WC, Garca-Cardea G, Liu J, Keh A, Pollock JS, Bradley J, et al. The golgi association of endothelial nitric oxide synthase is necessary for the efficient synthesis of nitric oxide. J Biol Chem 1995; 270:17641-17644.
28. Guzik TJ, Mussa S, Gastaldi D, Sadowski J, Ratnatunga C, Pillai R, Channon KM. Mechanisms of increased vascular superoxide production in human diabetes mellitus: Role of NAD(P)H oxidase and endothelial nitric oxide synthase. Circulation 2002; 105:1656-1662.
29. Alp NJ, Mussa S, Khoo J, Guzik TJ, Cai S, Jefferson A, et al. Tetrahydrobiopterin-dependent preservation of nitric oxide-mediated endothelial function in diabetes by targeted transgenic GTP-cyclohydrolase I over-expression. J Clin Invest 2003; 119:725-735.