Genetic characterization of protein C deficiency in Japanese subjects using a rapid and nonradioactive method for single-strand conformational polymorphism analysis and a model building

Thrombosis and Haemostasis

Volumn 76, Issue 3, 1996, Pages 302-311

  Miyata, Toshiyuki ^a   Sakata, Toshiyuki ^a   Zheng, Yan Zhen ^a,f   Tsukamoto, Hiroaki ^b   Umeyama, Hideaki ^b   Uchiyama, Shinichiro ^c   Ikusaka, Masaomi ^c   Yoshioka, Akira ^d   Imanaka, Yasufumi ^d   Fujimura, Hironobu ^e   Kambayashi, Jun Ichi ^e   Kato, Hisao ^a  

^a NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

^b KITASATO UNIVERSITY   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^d NARA MEDICAL UNIVERSITY   (Japan)

^e OSAKA UNIVERSITY   (Japan)

^f CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN C;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; EXON; FEMALE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENETIC ANALYSIS; HUMAN; INTRON; JAPAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN C DEFICIENCY; PROTEIN STRUCTURE; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 10344257566     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0038-1650575     Document Type: Article

References (46)

1. Stenflo J. A new vitamin K-dependent protein: Purification from bovine plasma and preliminary characterization. J Biol Chem 1976; 251: 355-63.
2. Kisiel W, Ericsson LH, Davie EW. Proteolytic activation of protein C from bovine plasma. Biochemistry 1976; 15: 4893-900.
3. Esmon CT. Protein-C: Biochemistry, physiology, and clinical implications. Blood 1983; 62: 1155-8.
4. Foster D, Davie EW. Characterization of a cDNA coding for human protein C. Proc Natl Acad Sci USA 1984; 81: 4766-70.
5. Beckmann RJ, Schmidt RJ, Santerre RF, Plutzky J, Crabtree GR, Long GL. The structure and evolution of a 461 amino acid human protein C precursor and its messenger RNA, based upon the DNA sequence of cloned human liver cDNAs. Nucleic Acids Res 1985; 13: 5233-47.
6. Foster DC, Yoshitake S, Davie EW. The nucleotide sequence of the gene for human protein C. Proc Natl Acad Sci USA 1985; 82: 4673-7.
7. Plutzky J, Hoskins JA, Long GL, Crabtree GR. Evolution and organization of the human protein C gene. Proc Natl Acad Sci USA 1986; 83: 546-50.
8. Patracchini P, Aiello V, Palazzi P, Calzolari E, Bernardi F. Subiocalization of human protein C gene on chromosome 2q13-q14. Hum Genet 1989; 81: 191-2.
9. Kisiel W, Canfield WM, Ericsson LH, Davie EW. Anticoagulant properties of bovine plasma protein C following activation by thrombm. Biochemistry 1977; 16: 5824-31.
10. Vehar GA, Davie EW. Preparation and properties of bovine factor VIII (antihemophilic factor). Biochemistry 1980; 19: 401-10.
11. Marlar RA, Kleiss AJ, Griffin JH. Mechanism of action of human activated protein C, a thrombin-dependent anticoagulant enzyme. Blood 1982; 59: 1067-72.
12. Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, Wideman C. Deficiency of protein C in congenital thrombotic disease. J Clin Invest 1981; 68: 1370-3.
13. 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 1995; 73: 876-89.
14. Miyata T, Zheng YZ, Sakata T, Tsushima N, Kato H. Three missense mutations in the protein C heavy chain causing type I and type II protein C deficiency. Thromb Haemost 1994; 71: 32-7.
15. Zheng YZ, Sakata T, Matsusue T, Umeyama H, Kato H, Miyata T. Six missense mutations associated with type I and type II protein C deficiency and implications obtained from molecular modelling. Blood Coagul Fibrinolysis 1994; 5: 687-96.
16. Miyata T, Zheng YZ, Sakata T, Kato H. Protein C Osaka 10 with aberrant propeptide processing: Loss of anticoagulant activity due to an amino acid substitution in the protein C precursor. Thromb Haemost 1995; 74: 1003-8.
17. Matsuda M, Sugo T, Sakata Y, Murayama H, Mimuro J, Tanabe S, Yoshitake S. A thrombotic state due to an abnormal protein C. N Engl J Med 1988; 319: 1265-8.
18. 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 1992; 90: 2439-46.
19. Tokunaga F, Wakabayashi S, Sato H, Arakawa M, Tawaraya H, Koide T. Identification of one base deletion in exon IX of the protein C gene that causes a type I deficiency. Thromb Res 1992; 68: 417-23.
20. Ohwada A, Takahashi H, Uchida K, Nukiwa T, Kira S. Gene analysis of heterozygous protein C deficiency in a patient with pulmonary arterial thromboembolism. Am Rev Respir Dis 1992; 145: 1491-4.
21. Yamamoto K, Matsushita T, Sugiura I, Takamatsu J, Iwasaki E, Wada H, Deguchi K, Shirakawa S, Saito H. Homozygous protein C deficiency: Identification of a novel missense mutation that causes impaired secretion of the mutant protein C. J Lab Clin Med 1992; 119: 682-9.
22. Mimuro J, Muramatsu S, Kaneko M, Yoshitake S, Iijima K, Nakamura K, Sakata Y, Matsuda M. An abnormal protein C (protein C Yonago) with an amino acid substitution of Gly for Arg-15 caused by a single base mutation of C to G in codon 57 (CCG→GGG). Int J Hematol 1993;57:9-14.
23. Ido M, Ohiwa M, Hayashi T, Nishioka J, Hatada T, Watanabe Y, Wada H, Shirakawa S, Suzuki K. A compound heterozygous protein C deficiency with a single nucleotide G deletion encoding Gly-381 and an amino acid substitution of Lys for Gla-26. Thromb Haemost 1993; 70: 636-41.
24. Nakagawa K, Tsuji H, Masuda H, Kitamura H, Nakahara Y, Ogasahara Y, Okajima Y, Sawada S, Nakagawa M. Protein C deficiency found in a patient with acute myocardial infarction: a single base mutation 157 Arg (CGA) to stop codon (TGA). Int J Hematol 1994; 60: 273-80.
25. Sugahara Y, Miura O, Hirosawa S, Aoki N. Compound heterozygous protein C deficiency caused by two mutations, Arg-178 to Gin and Cys-331 to Arg, leading to impaired secretion of mutant protein C. Thromb Haemost 1994; 72: 814-8.
26. Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988; 239: 487-9.
27. Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989; 5: 874-9.
28. Padmanabhan K, Padmanabhan KP, Tulinsky A, Park CH, Bode W, Huber R, Blankenship DT, Cardin AD, Kisiel W. Structure of human des (1-45) factor Xa at 2.2 Å resolution. J Mol Biol 1993; 232: 947-66.
29. Kajihara A, Komooka H, Kamiya K, Umeyama H. Protein modelling using a chimera reference protein derived from exons. Protein Engineering 1993; 6: 615-20.
30. 2+ for rapid activation by me thrombin-thrombomodulin complex. J Biol Chem 1994; 269: 3151-4.
31. Bartunik HD, Summers U, Bartsch HH. Crystal structure of bovine β-trypsin at 1.5 Å resolution in a crystal form with low molecular packing density. J Mol Biol 1989; 210: 813-28.
32. Bernstein FC, Koetzle TF, Williams GJB, Meyer EF Jr, Brice MD, Rodgers JR, Kennard O, Shimanouchi T, Tasumi M. The protein data bank: A computer-based archival file for macromolecular structures. J Mol Biol 1977; 112: 535-42.
33. Long GL, Belagaje RM, MacGillivray RT. Cloning and sequencing of liver cDNA coding for bovine protein C. Proc Natl Acad Sci USA 1984; 81: 5653-6.
34. Tada N, Sato M, Tsujimura A, Iwase R, Hashimoto-Gotoh T. Isolation and characterization of a mouse protein C cDNA. J Biochem 1992; 111: 491-5.
35. Okafuji T, Maekawa K, Nawa K, Marumoto Y. The cDNA cloning and mRNA expression of rat protein C. Biochim Biophys Acta 1992; 1131: 329-32.
36. Murakawa M, Okamura T, Kamura T, Kuroiwa M, Harada M, Niho Y. A comparative study of partial primary structures of the catalytic region of mammalian protein C. Br J Haematol 1994; 86: 590-600.
37. Breathnach R, Chambon P. Organization and expression of eucaryotic split genes coding for proteins. Ann Rev Biochem 1981; 50: 349-83.
38. Reitsma PH, Poort SR, Allaart CF, Briet E, Bertina RM. The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: Heterogeneity and founder effects. Blood 1991; 78: 890-4.
39. Tsay W, Greengard JS, Griffin JH. Exonic polymorphisms in the protein C gene: Interethnic comparison between Caucasian and Asians. Hum Genet 1994; 94: 177-8.
40. 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 1991; 77: 2633-6.
41. Gandrille S, Alach M. Polymorphism in the protein C gene detected by denaturing gradient gel electrophoresis. Nucleic Acids Res 1991; 19: 6982.
42. Barker D, Schafer M, White R. Restriction sites containing CpG show a higher frequency of polymorphism in human DMA. Cell 1984; 36: 131-8.
43. Fisher CL, Greengard JS, Griffin JH. Models of the serine protease domain of the human antithrombotic plasma factor activated protein C and its zymogen. Protein Science 1994; 3: 588-99.
44. Wacey AI, Pemberton S, Cooper DN, Kakkar VV, Tuddenham EGD. A molecular model of the serine protease domain of activated protein C: Application to the study of missense mutations causing protein C deficiency. Br J Haematol 1993; 84: 290-300.
45. Greengard JS, Griffin JH, Fisher CL. Possible structural implications of 20 mutations in the protein C protease domain. Thromb Haemost 1994; 72: 869-73.
46. Terukina S, Matsuda M, Hirata H, Takeda Y, Miyata T, Takao T, Shimonishi Y. Substitution of gArg-275 by Cys in an abnormal fibrinogen, fibrinogen Osaka II. J Biol Chem 1988; 263: 13579-87.