Molecular basis of a hereditary type I protein S deficiency caused by a substitution of Cys for Arg474

Blood

Volumn 87, Issue 11, 1996, Pages 4643-4650

  Yamazaki, Tomio ^a   Katsumi, Akira ^b   Kagami, Kazuo ^b   Okamoto, Yoshihiro ^b   Sugiura, Isamu ^b   Hamaguchi, Motohiro ^b   Kojima, Tetsuhito ^b   Takamatsu, Junki ^b   Saito, Hidehiko ^b  

^a NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; BLOOD CLOTTING DISORDER; DEEP VEIN THROMBOSIS; DISEASE CLASSIFICATION; HUMAN; MOLECULAR GENETICS; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN S DEFICIENCY; PROTEIN STRUCTURE;

EID: 0029956042     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v87.11.4643.bloodjournal87114643     Document Type: Article

References (51)

1. Dahlbäck B: Protein S and C4b-binding protein: Components involved in the regulation of the protein C anticoagulant system. Thromb Haemost 66:49, 1991
2. 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 268:2872, 1993
3. 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 91:2728, 1994
4. Dahlbäck B: Inhibition of protein Ca cofactor function of human and bovine protein S by C4b-binding protein. J Biol Chem 261:12022, 1986
5. Nishioka J, Suzuki K: Inhibition of cofactor activity of protein S by a complex of protein S and C4b-binding protein. J Biol Chem 265:9072, 1990
6. Comp PC, Esmon CT: Recurrent venous thromboembolism in patients with a partial deficiency of protein S. N Engl J Med 311:1525, 1984
7. Kamiya T, Sugihara T, Ogata K, Saito H, Suzuki K, Nishioka J, Hashimoto S, Yamagata K: Inherited deficiency of protein S in a Japanese family with recurrent venous thrombosis: A study of three generations. Blood 67:406, 1986
8. Manfioletti G, Brancolini C, Avanzi G, Schneider C: The protein encoded by a growth arrest-specific gene (gaso) is a new member of the vitamin K-dependent proteins related to protein S, a negative coregulator in the blood coagulation cascade. Mol Cell Biol 13:4976, 1993
9. Stitt TN, Conn G, Gore M, Lai C, Bruno J, Radziejewski C, Mattsson K, Fisher J, Gies DR, Jones PF, Masiakowski P, Ryan TE, Tobkes NJ, Chen DH, DiStefano PS, Long GL, Basilico C, Goldfarb MP, Lemke G, Glass DJ, Yancopoulos GD: The anticoagulation factor protein S and its relative, Gas6 are ligands for the Tyro 3/ AxI family of receptor tyrosine kinases. Cell 80:661, 1995
10. Joseph DR, Baker ME: Sex hormone-binding globulin, androgen-binding protein, and vitamin K-dependent protein S are homologous to laminin A, merosin, and Drosophitia crumbs protein. FASEB J 6:2477, 1992
11. Zöller B, García de Frutos P, Dahlbäck B: Evaluation of the relationship 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 85:3524, 1995
12. Reitsma PH, Bernardi F, Doig RG, Gandrille S, Greengard JS, Ireland H, Krawczak M, Lind B, Long GL, Poort SR, Saito H, Sala N, Witt I, Cooper DN: Protein C deficiency: A database of mutations, 1995 update. Thromb Haemost 73:876, 1995
13. Schmidel DK, Tatro AV, Phelps LG, Tomczak JA, Long GL: Organization of the human protein S genes. Biochemistry 29:7845, 1990
14. Ploos van Amstel HK, Huisman MV, Reitsma PH, Ten Cate JW, Bertina RM: Partial protein S gene deletion in a family with hereditary thrombophilia. Blood 73:479, 1989
15. Schmidel DK, Nelson RM, Broxson 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 77:551, 1991
16. 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 76:538, 1990
17. Diepstraten CM, Ploos van Amstel JK, Reitsma PH, Bertina RM: A CCA/CCG neutral dimorphism in the codon for Pro 626 of the human protein S gene PSa (PROS 1). Nucleic Acids Res 19:5091, 1991
18. Yamazaki T, Sugiura I, Matsushita T, Kojima T, Kagami K, Takamatsu J, Saito H: A phenotypically neutral dimorphism of protein S: The substitution of Lys 155 by Glu in the second EGF domain predicted by an A to G base exchange in the gene. Thromb Res 70:395, 1993
19. 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 domain of protein S. Blood 83:683, 1994
20. Reitsma PH, Ploos van Amstel HK, Bertina RM: Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I. J Clin Invest 93:486, 1994
21. Borgel D, Gandrille S, Gouault-Heilmann M, Aiach M: First frameshift mutation in the active protein S gene associated with a quantitative hereditary deficiency. Blood Coagul Fibrinolysis 5:593, 1994
22. Gómez 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 71:723, 1994
23. Gandrille S, Borgel D, Eschwege-Gufflet V, Aillaud Mf, Dreyfus M, Matheron C, Gaussem P, Abgrall JF, Jude B, Sie P, Toulon P, Aiach M: Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene. Blood 85:130, 1995
24. Gómez E, Poort SR, Bertina RM, Reitsma PH: Identification of eight point mutations in protein S deficiency type I - Analysis of 15 pedigrees. Thromb Haemost 73:750, 1995
25. Yamazaki T, Hamaguchi M, Katsumi A, Kagami K, Kojima T, Takamatsu J, Saito H: A quantitative protein S deficiency associated with a novel nonsense mutation and markedly reduced levels of mutated mRNA. Thromb Haemost 74:590, 1995
26. Yamazaki T, Katsumi A, Kagami K, Kojima T, Takamatsu J, Saito H: Genetic characterization of hereditary free protein S deficiency. Blood 82:405a, 1993 (abstr, suppl 1)
27. Sugiura I, Matsushita T, Tanimoto M, Takahashi I, Yamazaki T, Yamamoto K, Takamatsu J, Kamiya T, Saito H: Three distinct candidate point mutations of the von Willebrand factor gene in four patients with type IIA von Willebrand disease. Thromb Haemost 67:612, 1992
28. Chomczynski P, Sacchi N: Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156, 1987
29. Boyer-Neumann C, Bertina RM, Tripodi A, Angelo AD, Wolf M, D'Angelo SV, Mannucci PM, Meyer D, Larrieu MJ: Comparison of functional assays for protein S: European collaborative study of patients with congenital and acquired deficiency. Thromb Haemost 70:946, 1993
30. Comp PC, Doray D, Patton D, Esmon CT: An abnormal plasma distribution of protein S occurs in functional protein S deficiency. Blood 67:504, 1986
31. Laemmli UK: Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227:680, 1970
32. Yamamoto K, Tanimoto M, Matsushita T, Kagami K, Sugiura I, Hamaguchi M, Takamatsu J, Saito H: Genotype establishments for protein C deficiency by use of a DNA polymorphism in the gene. Blood 77:2633, 1991
33. Lundwall Å, Dackowski W, Cohen E, Shaffer M, Mahr A, Dahlback B, Stenflo J, Wydro R: Isolation and sequence of the cDNA for human protein S, a regulator of blood coagulation. Proc Natl Acad Sci USA 83:6716, 1986
34. Higuchi R: Recombinant PCR, in Innis MA, Gelfand DH, Sninsky JJ, White TJ (eds): PCR Protocols. San Diego, CA, Academic, 1990, p 177
35. Kaufman RJ, Davies MV, Wasley LC, Michnick D: Improved vectors for stable expression of foreign genes in mammalian cells by use of the untranslated leader sequence from EMC virus. Nucleic Acids Res 19:4485, 1991
36. Whitt M: Liposome-mediated transfection, in Ausubel FM, Brent R, Kingston RE, Moore DD, Seidman JG, Smith JA, Struhl K (eds): Current Protocols in Molecular Biology. Cambridge, MA, Wiley, 1991, p 9.4.1
37. Kingston RE, Kaufman RJ, Bebbington CR, Rolfe MR: Amplification using CHO cell expression vectors, in Ausubel FM, Brent R, Kingston RE, Moore DD, Seidman JG, Smith JA, Struhl K (eds): Current Protocols in Molecular Biology. Cambridge, MA, Wiley, 1991, p 16.14.1
38. Kotkow KJ, Roth DA, Porter TJ, Furie BC, Furie B: Role of propeptide in vitamin K-dependent γ-carboxylation. Methods Enzymol 222:435, 1993
39. Yamamoto K, Tanimoto M, Emi N, Matsushita T, Takamatsu J, Saito H: Impaired secretion of the elongated mutant of protein C (protein C-Nagoya): Molecular and cellular basis for hereditary protein C deficiency. J Clin Invest 90:2439, 1992
40. Hashiguchi T, Ichinose A: Molecular and cellular basis of deficiency of the b subunit for factor XIII secondary to a Cys430-Phe mutation in the seventh Sushi domain. J Clin Invest 95:1002, 1995
41. Tokunaga F, Wakabayashi S, Koide T: Warfarin causes the degradation of protein C precursor in the endoplasmic reticulum. Biochemistry 34:1163, 1995
42. Dahlbäck B, Carlsson M, Svensson PJ: Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C. Proc Natl Acad Sci USA 90:1004, 1993
43. Tanimoto M, Matsushita T, Sugiura I, Hamaguchi M, Takamatsu J, Kamiya T, Saito H: Structural gene analysis of a family with protein S deficiency by use of its cDNA probe. Thromb Haemosl 62:273a, 1989 (abstr)
44. Aoyama T, Tynan K, Dietz HC, Francke U, Furthmayr H: Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome. Hum Mol Genet 2:2135, 1993
45. Dahlbäck B, Lundwall Å, Stenflo J: Primary structure of bovine vitamin K-dependent protein S. Proc Natl Acad Sci USA 83:4199, 1986
46. He X, Dahlbäck B: Molecular cloning, expression and functional characterization of rabbit anticoagulant vitamin-K-dependent protein S. Eur J Biochem 217:857, 1993
47. Chu MD, Sun J, Bird P: Cloning and sequencing of a cDNA encoding the murine vitamin K-dependent protein S. Biochim Biophys Acta 1217:325, 1994
48. Greengard JS, Fernandez JA, Radtke KP, Griffin JH: Identification of candidate residues for interaction of protein S with C4b binding protein and activated protein C. Biochem J 305:397, 1995
49. Gershagen S, Fernlund P, Lundwall Å: A cDNA coding for human sex hormone binding globulin: Homology to vitamin K-dependent protein S. FEBS Lett 220:129, 1987
50. Joseph DR, Hall SH, French FS: Rat androgen-binding protein. Evidence for identical subunits and amino acid sequence homology with human sex hormone binding globulin. Proc Natl Acad Sci USA 84:339, 1987
51. Gershagen S, Fernlund 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 Molec Biol 40:763, 1991