Thrombosis and Haemostasis, Inhaltsverzeichnis Thromb Haemost 1997; 78(01): 351-356DOI: 10.1055/s-0038-1657551 Molecular basis of inherited thrombophilia: from genedefects to disease Schattauer GmbH Stuttgart Protein S Deficiency Authors Institutsangaben Delphine Borgel Unité INSERM 428, UFR des Sciences Pharmaceutiques et Biologiques, Paris, France Sophie Gandrille Unité INSERM 428, UFR des Sciences Pharmaceutiques et Biologiques, Paris, France Martine Aiach Unité INSERM 428, UFR des Sciences Pharmaceutiques et Biologiques, Paris, France Artikel empfehlen Abstract als PDF herunterladen(opens in new window) Artikel einzeln kaufen(opens in new window) PDF (1412 kb) Referenzen References 1 Esmon CT. Protein S and protein C. Biochemistry, physiology, and clinical manifestation of deficiencies. Trends Cardiovasc Med 1992; 2: 214-219 2 Walker FJ. Regulation of activated protein C by protein S. The role of phospholipid in factor Va inactivation. J Biol Chem 1981; 256: 11128-11131 3 Esmon CT, Schwarz HP. An update on clinical and basic aspects of the protein C anticoagulant pathway. Trends Cardiovasc Med 1995; 5: 141-148 4 Rosing J, Hoekema L, Nicolaes GAF, Thomassen CLGD, Hemker HC, Varadi K, Schwarz HP, Tans G. Effects of protein S and factor Xa on peptide bond cleavages during inactivation of factor Va and factor VaR506Q by activated protein C. J Biol Chem 1995; 270: 27852-27858 5 Tans GT, Rosing J, Thomassen MCLGD, Heeb MJ, Zwaal RFA, Griffin JH. Comparison of anticoagulant and procoagulant activities of stimulated platelets and platelet-derived microparticles. Blood 1991; 77: 2641-2648 6 Shen L, Dählback B. Factor V and protein S as synergistic cofactors to activated protein C in degradation of factor Villa. J Biol Chem 1994; 269: 18735-18738 7 Varadi K, Rosing J, Tans G, Pabinger I, Keil B, Schwarz HP. Factor enhances the cofactor function of protein S in the APC-mediated inactivation of factor VIII: influence of the factor VR506Q mutation. Thromb Haemost 1996; 76: 208-214 8 Heeb MJ, Mesters RM, Tans G, Rosing J, Griffin JH. Binding of protein S to factor Va associated with inhibition of prothrombinase that is independent of activated protein C. J Biol Chem 1993; 268: 2872-2877 9 Heeb MJ, Rosing J, Bakker HM, Fernandez JA, Tans G, Griffin JH. Protein S binds to and inhibits factor Xa. Proc Natl Acad Sci USA 1994; 91: 2728-2732 10 Van VijnenM, Stam JG, van’t VeerC, Meyers JCM, Reitsma PH, Bertina RM, Bouma BN. The interaction of protein S with the phospholipid surface is essential for the activated protein C-independent activity of protein S. Thromb Haemost 1996; 76: 397-403 11 Koppelman SJ, Hackeng TM, Sixma JJ, Bouma BN. Inhibition of the intrinsic factor X activating complex by protein S: evidence for a specific binding of protein S to factor VIII Blood. 1996; 86: 1062-1071 12 Koppelman SJ, Hackeng TM, Sixma JJ, Bouma BN. Inhibition of the intrinsic factor X activating complex by protein S: evidence for a specific binding of protein S to factor VIII. Blood 1995; 86: 1062-1071 13 Fair DS, Marlar RA, Levin EG. Human endothelial cells synthesize protein S. Blood 1986; 67: 1168-1171 14 Schwarz HP, Heeb MJ, Wencel-Drake JD, Griffin JH. Identification and quantification of protein S in human platelets. Blood 1985; 66: 1452-1455 15 Stenflo J, Lundwall A, Dahlbäck B. b-hydroxyasparagine in domains homologous to the epidermal growth factor precursor in vitamin K-dependent protein S. Proc Natl Acad Sci USA 1987; 84: 368-372 16 Gershagen S, Femlund P, Edenbrandt CM. The genes for SHBG/ ABP and the SHBG-like region of vitamin K-dependent protein S have evolved from a common ancestral gene. J Steroid Biochem Mol Biol 1991; 40: 763-769 17 Dahlbäck B, Smith CA, Muller-Eberhard HJ. Vizualisation of human C4b-binding protein and its complexes with vitamin K-dependent protein S and complement protein C4b. Proc Natl Acad Sci USA 1983; 80: 3461-3465 18 Fernandez JA, Heeb MJ, Griffin JH. Identification of residues 413433 of plasma protein S as essential for binding to C4b-binding protein. J Biol Chem 1993; 268: 16788-16794 19 Sugo T, Dahlbäck B, Holmgren A, Stenflo J. Calcium binding of bovine protein S. J Biol Chem 1986; 261: 5116-5120 20 Schwalbe R, Dahlbäck B, Hillarp A, Nelsestuen G. Assembly of protein S and C4b-binding protein on membranes. J Biol Chem 1990; 265: 16074-16081 21 Dahlbäck B. Purification of human vitamin K-dependent protein S and its limited proteolysis by thrombin. Biochem J 1983; 209: 837-846 22 Walker FJ. Regulation of vitamin K-dependent protein S. Inactivation with thrombin. J Biol Chem 1984; 259: 10335-10339 23 Dahlbäck B, Hildebrand B, Malm J. Characterization of functionally important domains in human vitamin K-dependent protein S using monoclonal antibodies. J Biol Chem 1990; 265: 8127-8135 24 He X, Shen L, Dahlbäck B. Expression and functional characterization of chimeras between human and bovine vitamin-K-dependent protein-S-defining modules important for the species specificity of the activated protein C cofactor activity. Eur J Biochem 1995; 227: 433-440 25 Dahlbäck B, Hildebrand B, Linse S. Novel type of very high affinity calcium-binding sites in b-hydroxy-asparagine-containing epidermal growth factor-like domains in vitamin K-like domains in vitamin K-dependent protein S. J Biol Chem 1990; 265: 18481-18489 26 Handford PA, Mayhew M, Baron M, Winship PR, Campbell ID, Brownlee GG. Key residues involved in calcium-binding motifs in EGF-like domains. Nature 1991; 351: 164-167 27 Nelson RM, VanDusen WJ, Friedman PA, Long GL. b-hydroxyaspartic acid and b-hydroxyasparagine residues in recombinant human protein S are not required for anticoagulant cofactor activity or for binding to C4b-binding protein. J Biol Chem 1991; 266: 20586-20589 28 Dahlbäck B, Frohm B, Nelsestuen G. High affinity interaction between C4b-binding protein and vitamin K-dependent protein S in the presence of calcium. J Biol Chem 1990; 265: 16082-16087 29 Hillarp A, Dahlbäck B. Novel subunit in C4b-binding protein required for protein S binding. J Biol Chem 1988; 263: 12759-12764 30 Harding Y, Rezaie A, Dahlbäck B. High affinity binding of human vitamin K-dependent protein S to a truncated recombinant b-chain of C4b binding protein expressed in Escherichia coli. J Biol Chem 1993; 268: 3033-3036 31 Harding Y, Dahlbäck B. The amino-terminal module of the C4b-bind-ing protein b-chain contains the protein S-binding site. J Biol Chem 1996; 271: 20861-20867 32 Fernandez JA, Villoutreix BO, Hackeng TM, Griffin JH, Bouma BN. Analysis of protein S C4b-binding protein interactions by homology modeling and inhibitory antibodies. Biochemistry 1994; 33: 11073-11078 33 Malm J, He XH, Bjartell A, Shen L, Abrahamsson PA, Dahlbäck B. Vitamin K-dependent protein S in Leydig cells of human testis. Biochem J 1994; 302: 845-850 34 Dahlbäck B. Purification of human vitamin K-dependent protein S and its limited proteolysis by thrombin. Biochem J 1983; 209: 837-846 35 Ohlin AK, Landes G, Bourdon P, Oppenheimer C, Wydro R, Stenflo J. Hydroxyaspartic acid in the first epidermal growth factor-like domain of protein C. J Biol Chem 1988; 263: 19240-19248 36 Nishioka J, Suzuki K. Inhibition of cofactor activity of protein S by a complex of protein S and C4b-binding protein. Evidence for inactive ternary complex formation between protein SC4b-binding protein, and activated protein C. J Biol Chem 1990; 265: 9072-9076 37 Nelson RM, Long GL. Binding of protein S to C4b-binding protein. Mutagenesis of protein S. J Biol Chem 1992; 267: 8140-8145 38 Chang GTG, Ploos vanAmstelHK, Hessing M, Reitsma PH, Bertina RM, Bouma BN. Expression and characterization of recombinant human protein S in heterologous cells. Studies of the interaction of amino acid residues Leu-608 to Glu-612 with human C4b-binding protein. Thromb Haemost 1992; 67: 526-532 39 Chang GTG, Maas BHA, Ploos vanAmstelHK, Reitsma PH, Bertina RM, Bouma BN. Studies of the interaction between human protein S and human C4b-binding protein using deletion variants of recombinant human protein S. Thromb Haemost 1994; 71: 461-467 40 Walker FJ. Characterization of a synthetic peptide that inhibits the interaction between protein S and C4b-binding protein. J Biol Chem 1989; 264: 17645-17648 41 Comp PC, Esmon CT. Recurrent venous thromboembolism in patients with a partial deficiency of protein S. N Engl J Med 1984; 311: 1525-1528 42 Schwartz H, Fischer M, Hopmeier P, Batard MA, Griffin HH. Familial protein S deficiency is associated with recurrent thrombosis. Blood 1984; 64: 1297-1300 43 Koster T, Rosendaal FR, Briet E, van derMeerFJM, Colly LP, Trienekens PH, Poort SR, Reitsma PH, Vandenbroucke JP. Protein C deficiency in a controlled series of unselected outpatients: an infrequent but clear risk factor for venous thrombosis (Leiden thrombophilia study). Blood 1995; 85: 2756-2761 44 Gladson CL, Scharrer I, Hach V, Beck KH, Griffin JH. The frequency of type I heterozygous protein S and protein C deficiency in 141 unrelated young patients with venous thrombosis. Thromb Haemost 1988; 59: 18-22 45 Heijboer H, Brandjes PM, Büller HR, Sturk A, ten CateJW. Deficiencies of coagulation-inhibiting and fibrinolytic proteins in outpatients with deep-vein thrombosis. N Engl J Med 1990; 323: 1512-1516 46 Pabinger I, Brücker S, Kyrle PA, Schneider B, Kominger HC, Niessner H, Lechner K. Hereditary deficiency of antithrombin ID protein C and protein S: prevalence in patients with a history of venous thrombosis and criteria for rational patient screening. Blood Coag Fibrinol 1992; 3: 547-553 47 Zöller B, Bemtsdotter A, Garcia deFrutosP, Dahlbäck B. Resistance to actived protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 1995; 85: 3518-3523 48 Pabinger I, Kyrle PA, Heistinger M, Eichinger S, Wittmann E, Lechner K. The risk of thromboembolism in asymptomatic patients with protein C and protein S deficiency: a prospective cohort study. Thromb Haemost 1994; 71: 441-445 49 Pabinger I, Schneider B. Thrombotic risk in hereditary antithrombin protein C or p rotein.S deficiency. A cooperative, retrospective study. Arterioscler, Thromb Vase Biol 1996; 16: 742-748 50 Girolami A, Simioni P, Lazzaro AR, Cordiano I. Severe arterial cerebral thrombosis in a patient with protein S deficiency (moderately reduced total and markedly reduced free protein S): a family study. Thromb Haemost 1989; 61: 144-147 51 Allaart C, Aronson D, Ruys TH, Rosendaal F, Bockel J, Bertina RM, Briet E. Hereditary protein S deficiency in young adults with arterial occlusive disease. Thromb Haemost 1990; 64: 206-210 52 Nighoghossian N, Berruyer M, Getenet JC, Trouillas P. Free protein S spectrum in young patients with stroke. Cerebrovasc Dis 1993; 4: 304-308 53 Gandrille S, Borgel D, Eschwege-Gufflet V, Aillaud MF, Dreyfus M, Matheron C, Gaussem P, Abgrall JF, Jude B, Sié P, Toulon P, Aiach M. Identification of 15 different candidate causal point mutations and 3 polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene. Blood 1995; 85: 130-138 54 Borgel D, Duchemin J, Alhenc-Gelas M, Matheron C, Aiach M, Gandrille S. Molecular basis for protein S hereditary deficiency: genetic defects observed in 118 patients with type I and type Ha deficiencies. J Lab Clin Med 1996; 128: 218-227 55 Simmonds RE, Ireland H, Kunz G, Lane DA. Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Blood 1996; 88: 4195-4204 56 Gomez E, Ledford MR, Pegelow CH, Reitsma PH, Bertina RM. Homozygous protein S deficiency due to a one base pair deletion that leads to a stop codon in exon III of the protein S gene. Thromb Haemost 1994; 71: 723-726 57 Comp PC. Laboratory evaluation of protein S status. Semin Thromb Hemost 1990; 16: 177-181 58 Comp PC, Doray D, Patton D, Esmon CT. An abnormal plasma distribution of protein S occurs in functional protein S deficiency. Blood 1985; 67: 504-508 59 Amiral J, Grosley B, Boyer-Neumann C, Marfaing-Koka A, Peynaud-Debayle E, Wolf M, Meyer D. New direct assay of free protein S antigen using two distinct monoclonal antibodies specific for the free form. Blood Coag Fibrinol 1994; 5: 179-186 60 Wolf M, Boyer-Neumann C, Leroy-Matheron C, Martinoli JL, Contant AmiralJ, Meyer D, Lairieu MJ. Functional assay of protein S in patients with congenital and acquired disorders. Blood Coag Fibrinol 1991; 2: 705-712 61 Preda L, Tripodi A, Valsecchi C, Lombardi A, Finotto E, Mannucci PM. A prothrombin time-based functional assay of protein S. Thromb Res 1990; 60: 19-32 62 Zöller B, Garcia de Frutos P, Dahlbäck B. Evaluation of the relation between protein S and C4b-binding protein isoforms in hereditary protein S deficiency demonstrating type I and type III deficiencies to be phenotypic variants of the same genetic disease. Blood 1995; 85: 3524-3531 63 Henkens CMA, Bom VJJ, van der Schaaf W, Pelsma PM, Smit SibingaCTH, de Kam PJ, van der Meer J. Plasma levels of protein S protein C, and factor X: effects of sex, hormonal state and age. Thromb Haemost 1995; 74: 1271-1275 64 Gari M, Kalkon L, Umitia T, Vallvé C, Borrell M, Fontcuberta J. The influence of low protein S plasma levels in young women, on the definition of normal range. Thromb Res 1995; 73: 149-152 65 Boerger LM, Morris PC, Thumau GR, Esmon CT, Comp PC. Oral contraceptives and gender affect protein S status. Blood 1987; 69: 692-694 66 Malm J, Laurell M, Dahlbäck B. Changes in the plasma levels of vitamin K-dependent proteins C and S and of C4b-binding protein during pregnancy and oral contraception. Br J Haematol 1988; 68: 437-443 67 Falkon L, Gari M, Garcia MoraJL, Calaf J, Rodriguez EspinosaJ, Oliver A, Fontcuberta J. The effect of endogenous oestradiol levels on protein S concentration during a menstrual cycle and after GnRH analogues and gonadotropin therapy. Br J Haematol 1995; 90: 438-441 68 Garcia CriadoO, Sanchez-Coiral P, Rodriguez deCordoba S. Isoforms of human C4b-binding protein. II Differential modulation of the C4BPA and C4BPB genes by acute phase cytokines. J Immunol 1995; 155: 4037-4043 69 Hooper WC, Phillips DJ, Ribeiro M, Benson J, Evatt BL. IL-6 upregulates protein S expression in the HepG-2 hepatoma cells. Thromb Haemost 1995; 73: 819-824 70 de Frutos PG, Alim RIM, Hardig Y, Zöller B, Dahlbäck B. Differential regulation of a and b chains of C4b-binding protein during acute-phase response resulting in stable plasma levels of free anticoagulant protein S. Blood 1994; 84: 815-822 71 Sanchez-Corral P, Garcia CO, Rodriguez deCorboda S. Isoforms of human C4b-binding protein.I. Molecular basis for the C4BP isoform pattern and its variations in human plasma. J Immunol 1995; 155: 4030-4036 72 Watkins P, Eddy R, Fukushima Y, Byers M, Cohen E, Dackowski W, Wydro R, Shows T. The gene for protein S maps near the centomer of human chromosome 3. Blood 1988; 71: 238-241 73 Edenbrandt CM, Lundwall A, Wydro R, Stenflo J. Molecular analysis of the gene for vitamin K-dependent protein S and its pseudogene. Cloning and partial gene organization. Biochemistry 1990; 29: 7861-7868 74 Ploos vanAmstel HK, Reitsma PH, van der Logt PE, Bertina RM. Intron-exon organization of the active human protein S gene PSa and its pseudogene PSb: duplication and silencing during primate evolution. Biochemistry 1990; 29: 7853-7861 75 Schmidel DK, Tatro AV, Tomczak JA, Long GL. Organization of the human protein S genes. Biochemistry 1990; 29: 7845-7852 76 Reitsma PH, Ploos vanAmstelHK, Bertina RM. Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I. J Clin Invest 1994; 93: 486-492 77 Gomez E, Poort SR, Bertina RM, Reitsma PH. Identification of eight point mutations in protein S deficiency type I. Analysis of 15 pedigrees. Thromb Haemost 1995; 73: 750-755 78 Mustafa S, Pabinger I, Mannhalter C. Protein S deficiency type I: identification of point mutations in 9 of 10 families. Blood 1995; 86: 3444-3451 79 Duchemin J, Borg JY, Borgel D, Vasse M, Lévesque H, Aiach M, Gandrille S. Five novel mutations of the protein S active gene (Pros 1) in 8 Norman families. Thromb Haemost 1996; 75: 437-444 80 Beauchamp NJ, Daly ME, Cooper PC, Makris M, Preston FE, Peake IR. Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V Leiden. Blood 1996; 88: 1700-1707 81 Andersen BD, Lind B, Philips M, Hansen AB, Ingerslev J, Thorsen S. Two mutations in exon XII of the protein Sa gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA. Thromb Haemost 1996; 76: 143-150 82 Okamoto Y, Yamazaki T, Katsumi A, Kojima T, Takamatsu J, Nishida M, Saito H. A novel nonsense mutation associated with an exon skipping in a patient with hereditary protein S deficiency type I. Thromb Haemost 1996; 75: 877-882 83 Yamazaki T, Katsumi A, Kagami K, Okamoto Y, Sugiura I, Hamaguchi M, Kojima T, Takamatsu J, Saito H. Molecular basis of a hereditary type I protein S deficiency caused by a substitution of Cys for Arg 474. Blood 1996; 87: 4643-4650 84 Higashi Y, Tanae A, Inoue H, Hiromasa T, Fujii-Kuriyama Y. Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products. Proc Natl Acad Sci USA 1988; 85: 7486-7490 85 Ploos van Amstel HK, Huisman MV, Reitsma PH, ten Cate JW, Batina RM. Partial protein S gene deletion in a family with hereditary thrombophilia. Blood 1989; 73: 479-483 86 Schmidel DK, Nelson RM, Broxson Jr EH, Comp PC, Marlar RA, Long GL. A 5.3-kb deletion including exon XIII of the protein S a gene occurs in two protein S-deficient families. Blood 1991; 77: 551-559 87 Holmes ZR, Bertina RM, Reitsma PH. Characterization of a large chromosomal deletion in the PROS 1 gene of a patient with protein S deficiency type I using long PCR. Br J Haematol 1996; 92: 986-991 88 Duchemin J, Gandrille S, Borgel D, Feurgard P, Alhenc-Gelas M, Matheron C, Dreyfus M, Dupuy E, Juhan-Vague I, Aiach M. The Ser 460 to Pro substitution of the protein Sa (PROS1) gene is a frequent mutation associated with free protein S (type Ha) deficiency. Blood 1995; 86: 3436-3443 89 Bertina RM, Ploos van Amstel HK, van Wijngaarden A, Coenen J, Leemhuis MP, Deutz-Terlouw PP, van der Linden IK, Reitsma PH. Heerlen polymorphism of protein S, an immunologic polymorphism due to dimorphism of residue 460. Blood 1990; 76: 538-548 90 Koeleman BPC, Van Rumpt D, Hamulyak K, Reitsma PH, Bertina RM. Factor V Leiden: an additional risk factor for thrombosis in protein S deficient families?. Thromb Haemost 1995; 74: 580-583 91 Gandrille S, Alhenc-Gelas M, Gaussem P, Aillaud MF, Dupuy E, Juhan-Vague I, Aiach M. Five novel mutations located in exons III and IX of the protein C gene in patients with defective protein C anticoagulant activity. Blood 1993; 82: 159-168 92 Hayashi T, Nishioka J, Shigekiyo T, Saito S, Suzuki K. Protein S Tokushima: Abnormal molecule with a substitution of Glu for Lys-155 in the second epidermal growth factor-like domains of protein S. Blood 1994; 83: 683-690 93 Dahlbäck B. Protein S and C4b-binding protein: components involved in the regulation of the protein C anticoagulant system. Thromb Haemost 1991; 66: 49-61
