Molecular Basis For Protein C Hereditary Deficiency

Pathophysiology of Haemostasis and Thrombosis

Volumn 26, Issue , 1996, Pages 9-19

  Aiach, Martine ^a   Gandrille, Sophie ^a  

^a INSERM   (France)

Author keywords

Hereditary deficiency; Mutation; Protein C

Indexed keywords

CONFERENCE PAPER; GENE MUTATION; GENETIC DISORDER; HUMAN; PRIORITY JOURNAL; PROTEIN C DEFICIENCY;

ALLELES; DISEASE SUSCEPTIBILITY; DNA MUTATIONAL ANALYSIS; FACTOR V; FACTOR V DEFICIENCY; FRANCE; GENES; GENOTYPE; HUMANS; PROTEIN C; PROTEIN C DEFICIENCY; PROTEIN STRUCTURE, TERTIARY; THROMBOEMBOLISM;

EID: 0029902451     PISSN: 14248832     EISSN: 14248840     Source Type: Journal    
DOI: 10.1159/000217280     Document Type: Article

References (61)

1. Walker FJ. Fay PJ: Regulation of blood coagulation by the protein C system. FASEB J 1992;6:2561-2567.
2. Esmon CT, Schwarz HP: An update on clinical and basic aspects of the protein C anticoagulant pathway. Trends cardiovasc Med 1995;5:141-148.
3. Seligsohn U. Berger A. Abend M, Rubin L. Attias D, Zivelin A. Rapaport SI: Homozygous protein C deficiency manifested by massive venous thrombosis in the newborn. N Engl J Med 1984;310:559-562.
4. Patracchini P. Aiello V, Palazzi P. Calzolari E. Bernardi F: Sublocalization of the human protein C gene on chromosome 2q 13-q 14. Hum Genet 1989;81:191-192.
5. Foster DC. Yoshitake S. Davie EW: The nucleotide sequence of the gene for human protein C. Proc Natl Acad Sei USA 1985;82:4673-4677.
6. Plutzky J. Hoskins JA. Long GL. Crabtree GR: Evolution and organization of the human protein C gene. Proc Natl Acad Sei USA 1986:83:546-550.
7. Cheung A. Engelke JA. Sanders C. Suttie JW: Vitamin K-dependent carboxylase: Influence of the “propeptide” region on enzyme activity. Arch Biochem Biophys 1989;274:574-581.
8. Miao CH, Ho W-T. Greenberg DL. Davie EW: Transcriptional regulation of the gene coding for human protein C. J Biol Chem 1996:271:9587-9594.
9. Miletich JP: Laboratory diagnosis of protein C deficiency. Semin Thromb Hemost 1990:16:169-176.
10. Conard J, Horellou MH, Van Dreden P. Samama M, Reitsma PH, Poort S, Berlina RM: Homozygous protein C deficiency with late onset and recurrent coumarin-induced skin necrosis. Lancet 1992;339:743-744.
11. Gandrille S, Jude B, Alhenc-Gelas M, Aiach M: Compound heterozygosity in a family with quantitative protein C deficiency illustrating the complexity of underlaying molecular mechanism. Thrornb Haemost 1993;70:747-752.
12. Yamamoto K. Matsushita T. Sugiura I, Takamatsu J, Iwasaki E, Wada H, Dcguchi 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; 119:682-689.
13. Myers RM. Fischer SG, Lerman LS, Maniatis T: Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis. Nucl Acid Res 1985;13:3131-3144.
14. Bovill EG. Tomczak JA, Grant B, Bhushan F. Pillemer E, Rainville IR, Long GL: Protein C Vermont: Symptomatic type II protein C deficiency associated with two GLA domain mutations. Blood 1992;79:1456-1465.
15. 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.
16. 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. Thrornb Haemost 1993;70:636-641.
17. Gaussem P, Gandrille S, Duchemin J, Emmerich J, Alhenc-Gelas M, Aillaud MF, Aiach M: Influence of six mutations of the protein C gene of the Gla domain conformation and calcium affinity. Thrornb Haemost 1994;71:748-754.
18. Tollefson DFJ, Friedman KD, Marlar RA. Bandyk DF, Towne JB: Protein C deficiency. A cause of unusual or unexplained thrombosis. Arch Surg 1988;123:881-884.
19. Kalafatis M. Lu D. Bertina RM. Long GL, Mann KG: Biochemical prototype for familial thrombosis. A study dombining a functional protein C mutation and factor V Leiden. Arterioscler Thrornb Vase Biol 1995;15:2181-2187.
20. 26 residue of protein C is required for the binding of protein C to thrombomodulin and endothelial cell protein C receptor, but not to protein S and factor Va. Thrornb Haemost 1996;75:275-282.
21. Wojcik EGC. Simioni P. Berg MVD, Girolami A, Bertina RM: Mutations which introduce free cysteine residues in the Gla-domain of vitamin K dependent proteins result in the formation of complexes with a 1-microglobulin. Thrornb Haemost 1996;75:70-75.
22. Miyata T. Zheng Y-Z, 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. Thrornb Haemost 1995;74:1003-1008.
23. Lind B. Schwartz M, Thorsen S: Six different point mutations in seven Danish families with symptomatic protein C deficiency. Thromb Haemost 1995;73:186-193.
24. Zhang L, Castellino FJ: Influence of specific g-carboxyglutamic acid residues on the integrity of the calcium-dependant conformation of human protein C. J biol Chem 1992;267: 26078-26084
25. Soria JM, Morell M, Nicolau I. Estivill X, Sala N: Homozygosity for R87H missense mutation and for a rare intron 7 DNA variant (7054G A) in the PROC genes of three siblings initially classified as heterozygotes for protein C deficiency. Blood Coag Fibrinol 1996;7:15-23.
26. Yu S, Zhang L, Jhingan A, Christiansen WT, Castellino FJ: Construction, expression, and properties of a recombinant chimeric human protein C with replacement of its growth factor-like domains by those of human coagulation factor IX. Biochemistry 1994:33:823-831.
27. Rezaie AR, Esmon NL, Esmon CT: The high affinity calcium-binding site involved in protein C activation is outside the first epidermal growth factor homology domain. J Biol Chem 1992;267:11701-11704.
28. Rezaie AR, Esmon CT: Tryptophans 231 and 234 in protein C report the Ca2+-dependent conformational change required for activation by the thrombin-thrombomodulin complex. Biochemistry 1995;34:12221-12226.
29. Vincenot A, Gaussem P, Pittet JL, Debost S, Aiach M: Amino acids 225 to 235 of the protein C serine-protease domain are important for the interaction with the thrombin-thrombomodulin complex. FEBS Letters 1995;367:153-157.
30. Poort SR, Pabinger-Fasching I, Mannhalter C, Reitsma PH, Bertina RM: Twelve novel and two recurrent mutations in 14 Austrian families with hereditary protein C deficiency. Blood Coag Fibrinol 1993;4:273-280.
31. 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 Coag Fibrinol 1994;5:687-696.
32. Doig RG, Begley CG, McGrath KM: Hereditary protein C deficiency associated with mutations in exon IX of the protein C gene. Thromb Haemost 1994;72:203-208.
33. Marchetti G, Patracchini P, Gemmati D, Castaman G, Rodeghiero F, Wacey A, Cooper DN, Tuddenham EGD, Bernardi F: Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381 Æ Ser) in the substrate-binding pocket. Br J Haematol 1993;84:285-289.
34. 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;71:32-37.
35. Greengard JS, Fisher CL, Villoutreix B, Griffin JH: Structural basis for type I and type II deficiencies of antithrombotic plasma protein C: Patterns revealed by three-dimensional molecular modelling of mutation of the protease domain. Proteins: Structure, Function.and Genetics 1994:18:367-380.
36. 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;319:1265-1268.
37. 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;145:1491-1494.
38. Grundy C. Chitolie A. Talbot S, Bevan D. Kakkar V. Cooper DN; Protein C London I: recurrent mutation at Arg 169 (CGG to TGG) in the protein C gene causing thrombosis. Nucl Acid Res 1989:17:10513.
39. Tsay W. Greengard JS, Montgomery RR, PcPherson RA. Fucci JC. Koerper MA. Coughlin J, Griffin JH: Genetic mutations in ten unreleated American patients with symptomatic type 1 protein C deficiency. Blood Coag Fibrinol 1993:4:791-796.
40. Ireland HA. Boisclair MD, Taylor J, Thompson E. Thein SL. Girolami A, De Caterina M, Scopacasa F, De Stefano V, Leone G. Finazzi G. Cohen H, Lane DA: Two novel (R(-11)C;T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds. Hum Mut 1996;7:176-179.
41. Romeo G, Hassan HJ. Staempfli S, Roncuzzi L, Cianetti L, Leonardi A. Vicente V. Mannucci PM, Bertina R. Peschle C. Cortese R: Hereditary thrombophilia: Identification of nonsense and missense mutations in the protein C gene. Proc Natl Acad Sci USA 1987;84:2829-2832.
42. Reitsma PH. Poort SR. Bernardi F, Gandrille S, Long GL. Sala N, Cooper DN: Protein C deficiency: A database of mutations. For the protein C and S subcommittee of the scientific and standardization committee of the international society on thrombosis and haemostasis. Thromb Haemost 1993:69:77-84.
43. 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. On behalf of the subcommittee on plasma coagulation inhibitors of the scientific and standardization committee of the ISTH. Thromb Haemost 1995:73:876-889.
44. Reitsma PH. Poort SR. Allaart CF, Briët 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 1991:78:890-894.
45. Gandrille S, Aiach M, and the French INSERM network on molecular abnormalities responsible for protein C and protein S deficiencies: Identification of mutations in 90 out of 121 consecutive French patients with a type I protein C deficiency: A description of 35 novel mutations and 14 novel polymorphisms. Blood 1995:86:2598-2605.
46. Gandrille S, Jude B, Alhenc-Gclas M, Emmerich J, Aiach M: First de novo mutations in the protein C gene of two patients with type I deficiency: a missense mutation and a splice site deletion. Blood 1994:84:2566-2570.
47. Millar DS. Allgrove J. Rodeck C. Kakkar VV. Cooper DN: A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal purpura fulminans: prenatal diagnosis in an at-risk pregnancy. Blood Coag Fibrinol 1994;5:647-649.
48. Dreyfus M. Magny JF, Bridey F, Schwarz HP, Planché C, Dehan M, Tchernia G: Treatment of homozygous protein C deficiency and neonatal purpura fulminans with a purified protein C concentrate. N Engl J Med 1991:325:1565-1568.
49. Long GL, Tomczak JA. Rainville IR. Dreyfus M. Schramm W. Schwarz HP: Homozygous type I protein C deficiency in two unrelated families exhibiting thrombophilia related to Ala 136 to Pro or Arg 286 to His mutations. Thromb Haemost 1994;72:526-533.
50. Soria JM. Brito D, Barcclo J. Fontcuberta J, Botero L. Maldonado J. Estivill X. Sala N: Severe homozygous protein C deficiency: identification of a splice site missense mutation (184, Q £ H) in exon 7 of the protein C gene. Thromb Haemost 1994;72:65-69.
51. Grundy CB, Chisholm M, Kakkar VV, Cooper DN: A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis. Hum Genet 1992:89: 683-684.
52. Grundy CB. Lindo V. Kakkar VV, Melissari E, Scully MF, Cooper DN: Late-onset homozygous protein C deficiency. Lancet 1991;338:575-576.
53. Melissari E, Kakkar VV: Congenital severe protein C deficiency in adults. Br J Haematol 1989;72:222-228.
54. Witt I. Beck S, Seydewitz HH, Tasangil C, Schenck W: A novel homozygous missense mutation (Val 325 to Ala) in the protein C gene causing neonatal purpura fulminans. Blood Coag Fibrinol 1994;5:651-653.
55. 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;72:814-818.
56. Miletich JP, Sherman L, Broze GJ: Absence of thrombosis in subjects with heterozygous protein C deficiency. N Engl J Med 1987;317:991-996.
57. Miletich JP, Prescott SM, White R, Majerus PW. Bovill EG: Inherited predisposition to thrombosis. Cell 1993;72:477-480.
58. Spek CA, Koster T, Rosendaal FR, Bertina RM, Reitsma PH: Genotypic variation in the promoter region of the protein C gene is associated with plasma protein C levels and thrombotic risk. Arterioscler Thromb Vase Biol 1995;15:214-218.
59. Koeleman BPC, Reitsma PH, Allaart CF. Bertina RM: Activated protein C resistance as an additional riwk factor for thrombosis in protein C-deficient families. Blood 1994;84:1031-1035.
60. Gandrille S, Greengard J, Alhenc-Gelas M, Juhan-Vague I. Abgrall JF, Jude B, Griffin JH, Aiach M, and the French network on the behalf of INSERM Molecular abnormalities responsible for protein C and protein S deficiencies: Incidence of activated protein C resistance due to the Arg 506 Gin mutation in factor V in 113 unrelated symptomatic protein C deficient patients. Blood 1995;86:219-224.
61. Rozmahel R, Wilschanski M, Matin A, Plyte S, Oliver M, Auerbach W. Moore A, Forstner J. Durie P, Nadeau J, Bear C, Tsui L-C: Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nature Genetics 1996:12:280-287.