Molecular genetics of coagulation factor VIII gene and haemophilia A

Haemophilia

Volumn 4, Issue 4 SUPPL. 2, 1998, Pages 1-11

  Antonarakis, S E ^a,b  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b Centre médical universitaire   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 INHIBITOR; DNA; VON WILLEBRAND FACTOR;

AMINO ACID SEQUENCE; CHROMOSOMAL LOCALIZATION; CHROMOSOME BREAKAGE; CONFERENCE PAPER; CPG ISLAND; CROSSING OVER; DNA POLYMORPHISM; EXON; EXPERIMENTAL MODEL; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENE STRUCTURE; GLYCOSYLATION; HEMOPHILIA A; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NONSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; PROTEIN BINDING; RETROPOSON; RNA SPLICING; X CHROMOSOME LINKAGE;

EID: 0031715429     PISSN: 13518216     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2516.4.s2.1.x     Document Type: Conference Paper

References (68)

1. Hoyer LW. Hemophilia A. N Eng J Med 1994; 330: 38-47.
2. Rizza CR, Spooner RJD. Treatment of haemophilia and related disorders in Britain and Northern Ireland during. Report on behalf of the Directors of Haemophilia Centres in the United Kingdom. Br Med J 1976-80; 286: 929-33 1983.
3. Hoyer LW. Molecular pathology and immunology of factor VIII. Hum Pathol 1987; 18: 153-61.
4. Lazarchick J, Hoyer LW. Immunoradiometric measurement of the factor VIII procoagulant antigen. J Clin Invest 1976; 62: 1048-52.
5. Gitschier J, Wood WI, Goralka TM, et al. Characterization of the human factor VIII gene. Nature 1984; 312: 326-30.
6. Wood WI, Capon DJ, Simonsen CC, et al. Expression of active human factor VIII from recombinant DNA clones. Nature 1984; 312: 330-7.
7. Toole JJ, Knopf JL, Wozney JM, et al. Molecular cloning of a cDNA encoding human antihaemophilic factor. Nature 1984; 312: 342-7.
8. Poustka A, Dietrich A, Langenstein G, Toniolo D, Warren ST, Lehrach H. Physical map of Xq27-Xqter: localizing the region of the fragile X mutation. Proc Natl Acad Sci USA 1991; 88: 8302-6.
9. Freije D, Schlessinger D. A 1.6 mb contig of yeast artificial chromosomes around the human factor VIII gene reveals three regions homologous to probes for the DXS115 locus and two for the DXYS64 locus. Am J Hum Genet 1992; 51: 66-80.
10. Migeon BR, McGinnis MJ, Antonarakis SE, et al. Severe hemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28. Genomics 1993; 16: 20-5.
11. Levinson B, Kenwrick S, Lakich D, Hammonds G, Gitschier J. A transcribed gene in an intron of the human factor VIII gene. Genomics 1990; 7: 1-11.
12. Levinson B, Bermingham JR, Metzenberg A, Kenwrick S, Chapman V, Gitschier J. Sequence of the human factor VIII-associated gene is conserved in mouse. Genomics 1992; 13: 862-5.
13. Levinson B, Kenwrick S, Gamel P, Fisher K, Gitschier J. Evidence for a third transcript from the human factor VIII gene. Genomics 1992; 14: 585-9.
14. Wion KL, Kelly D, Summerfield JA, Tuddenham EGD, Lawn RM. Distribution of factor VIII mRNA and antigen in human liver and other tissues. Nature 1985; 317: 726-9.
15. Zelechowska MG, van Mourik JA, Brodniewicz-Proba T. Ultrastructural localization of factor VIII procoagulant antigen in human liver hepatocytes. Nature 1985; 317: 729-31.
16. Vehar GA, Keyt B, Eaton D, et al. Structure of human factor VIII. Nature 1984; 312: 337-42.
17. Koschinsky ML, Funk WD, van Ooar BA, MacGillivray RTA. Complete cDNA sequence of human preceruloplasmin. Proc Natl Acad Sci USA 1986; 83: 5086-90.
18. Kane WH, Davie EW. Cloning of a cDNA coding for human factor V, a blood coagulation factor homologous to factor VIII and ceruloplasmin. Proc Natl Acad Sci USA 1986; 83: 800-6804.
19. Kane WH, Ichinose A, Hagen FS, Davie EW. Cloning of cDNAs coding for the heavy chain region and connecting region of human factor V, a blood coagulation factor with four types of repeats. Biochemistry 1987; 26: 6508-14.
20. Stubbs JD, Lekutis C, Singer KL, et al cDNA cloning of a mouse mammary epithelial cell surface protein reveals the existence of epidermal growth factor-like sequences. Proc Natl Acad Sci USA 1990; 87: 8417-21.
21. Elder B, Lakich D, Gitschier J. Sequence of the murine Factor VIII cDNA. Genomics 1993; 16: 374-9.
22. Kaufman RJ, Antonarakis SE. Structure biology and genetics of factor VTII. In: Hoffman R, et al. eds. Hematology; Basic Principles and Practice, 2nd edn. New York: Churchill Livingstone, 1994; 1633-84.
23. Tuddenham EGD, Schwaab R, Seehafer J, et al. Haemophilia A. Database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene - 2nd edn. Nucl Acids Res 1994; 22: 3511-33.
24. Antonarakis SE, Kazazian HH, Tuddenham EGD. Molecular etiology of Factor VIII. Deficiency in hemophilia A. Hum Mut 1995; 5: 1-22.
25. Wacey AI, Kemball-Cook G, Kazazian HH, et al. The hemophilia A mutation search test and resounce site; home page of the factor VIII mutation database. Nucl Adds Res 1996; 24: 100-2.
26. Higuchi M, Antonarakis SE, Kasch L, et al. Towards a complete characterization of mild to moderate hemophilia A. detection of the molecular defect in 25 of 29 patients by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA 1991; 88: 8307-11.
27. Higuchi M, Kazazian HH, Kasch L, et al. Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding region and splice junctions of the factor VIII gene. Proc Natl Acad Sci USA 1991; 88: 7405-9.
28. Naylor JA, Green PM, Rizza CR, Gianelli F. Analysis of factor VIII mRNA reveals defects in every one of 28 hemophilia A patients. Hum Mol Genet 1993; 2: 11-7.
29. Lakich D, Kazazian HH, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene as a common cause of severe hemophilia A. Nature Genet 1993; 5: 236-41.
30. Naylor JA, Green PM, Rizza CR, Gianelli F. Factor VIII gene explains all cases of hemophilia A. Lancet 1992; 340: 1066-7.
31. Naylor JA, Brinke A, Hassock S, Green PM, Giannelli F. Characteristic mRNA abnormality found in half the patients with severe hemophilia A is due to large DNA inversions. Hum Mol Genet 1993; 2: 1773-8.
32. Naylor JA, Buck D, Green P, Williamson H, Bentley D, Giannelli F. Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions. Hum Mol Genet 1995; 4: 1217-24.
33. Rossiter JP, Young M, Kimberland ML, et al. Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Mol Genet 1994; 7: 1035-9.
34. Antonarakis SE, 67 co-authors. Factor VIII gene inversions in severe hemophilia A. results of an international consortium study. Blood 1995; 86: 2206-12.
35. Antonarakis SE, Kazazian HH Jr. The molecular basis of hemophilia A in man. Trends Genet 1988; 4: 233-7.
36. Youssoufian H, Antonarakis SE, Aronis S, Triftis G, Phillips DG, Kazazian HH Jr. Characterization of five partial deletions of the factor VIII gene. Proc Natl Acad Sci USA 1987; 84: 3772-6.
37. Lavergne JM, Bahnak BR, Vidaud M, Laurian Y, Meyer D. A directed search for mutations in hemophilia A using restriction enzyme analysis and DGGE. A study of seven exons in the factor VIII gene of 170 cases. Nouv Rev Fr Hematol 1992; 34: 85-91.
38. Woods-Samuels P, Kazazian HH Jr, Antonarakis SE. Nonhomologous recombination in the human genome: deletions in the human factor VIII gene. Genomics 1991; 10: 94-101.
39. Kazazian HH Jr, Wong C, Youssoufian HG, Scott AF, Phillips D, Antonarakis SE. A novel mechanism of mutation in man: hemophilia A due to de novo insertion of L1 sequences. Nature 1988; 332: 164-6.
40. Fanning TG, Singer MF. LINE-1: a mammalian transposable element. Biochem Biophys Acta 1987; 910: 203-2 12.
41. Kazazian HH Jr, Scott AF. 'Copy and paste' transposable elements in the human genome. J Clin Invest 1993; 91: 1859-60.
42. Dombroski BA, Mathias SL, Nanthakumar E, Scott AF, Kazazian HH Jr. Isolation of a human transposable element. Science 1991; 254: 1808-910.
43. Mathias SL, Scott AF, Kazazian HH Jr, Boeke JD, Gabriel A. Reverse transcriptase encoded by a human transposable element. Science 1991; 254: 1808-10.
44. Woods-Samuels P, Wong C, Mathias SL, Scott AF, Kazazian HH Jr, Antonarakis SE. Characterization of a non-deleterious L1 insertion in an intron of the human factor VIII gene and evidence for open reading frames in functional L1 elements. Genomics 1989; 4: 290-6.
45. Gitschier J. Maternal duplication associated with gene deletion in sporadic hemophilia. Am J Hum Genet 1988; 43: 274-9.
46. Murru S, Casula L, Pecorara M, Mori P, Cao A, Pirastu M. Illegitimate recombination produced a duplication within the factor VIII gene in a patient with mild hemophilia A. Genomics 1990; 7: 115-8.
47. Youssoufian H, Kazazian HH Jr, Phillips DG, et al. Recurrent mutations in haemophilia A give evidence for CpG mutations hotspots. Nature 1986; 324: 380-2.
48. Cooper DN, Youssoufian H. The CpG dinucleotide and human genetic disease. Hum Genet 1988; 74: 151-5.
49. Diamond C, Kogan S, Levinson B, Gitschier J. Amino-acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild to moderately severe hemophilia A. Hum Mut 1992; 1: 248-57.
50. Youssoufian H, Antonarakis SE, Bell W, Griffin AM, Kazazian HH Jr. Nonsense and missense mutation in hemophilia A. estimate of the relative mutation rate at CpG dinucleotides. Am J Hum Genet 1988; 42: 718-25.
51. Dietz HC, Valle D, Francomano CA, Kendzior RJ Jr, Pyeritz RE, Cutting GR. The skipping of constitutive exons in vivo induced by nonsense mutations. Science 1993; 259: 680-2.
52. Gitschier J, Kogan S, Levinson B, Tuddenham EGD. Mutations of factor VIII cleavage sites in hemophilia A. Blood 1988; 72: 1022-8.
53. Arai M, Inaba H, Higuchi M, et al. Detection of a mutation altering a thrombin cleavage site (arginine-372-histidine). Proc Natl Acad Sci USA 1989; 86: 4277-81.
54. O'Brien D, Pattinson JK, Tuddenham EGD. Purification and characterization of factor VTII 3372-cys: a hypofunctional cofactor from a patient with moderately severe hemophilia A. Blood 1990; 75: 1664-72.
55. Johnson DJD, Pemberton S, Acquila M, Mori PG, Tuddenham EGD, O'Brien DP. Factor VIII S373L: mutation at a P1 site confers thrombin cleavage resistance, causing mild haemophilia A. Thromb Hemost 1994; 71: 428-33.
56. O'Brien DP, Tuddenham EGD. Purification and characterization of factor VIII 1689Cys: A non-functional cofactor occurring in a patient with severe haemophilia A. Blood 1989; 73: 2117-22.
57. Arai M, Higuchi M, Antonarakis SE, et al. Characterization of a thrombin cleavage site mutation (arg 1689 to cys) in the factor VIII gene of two unrelated patients with cross-reacting material positive hemophilia A. Blood 1990; 75: 384-9.
58. Aly AM, Higuchi M, Kasper CK, Kazazian HH Jr, Antonarakis SE, Hoyer LW. Hemophilia A due to mutations that create new N-glycosylation sites. Proc Natl Acad Sci USA 1992; 89: 4933-7.
59. Higuchi M, Wong C, Kochhan L, et al. Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA. Genomics 1990; 6: 65-71.
60. 1680 of human blood coagulation factor VTII is essential for the interaction of factor VIII with von Willebrand factor. J Biol Chem 1991; 266: 17 572-6.
61. McGinniss MJ, Kazazian HH Jr, Hoyer LW, Bi L, Inaba H, Antonarakis SE. Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A. Genomics 1993; 15: 392-8.
62. Sultan Y. Prevalence of inhibitors in a population of 3435 hemophilia patients in France. Thromb Haemost 1992; 67: 600-2.
63. Fulcher CA, de Graff S, Mahoney S, Zimmerman TS. FVIII inhibitor IgG subclass and FVIII polypeptide specificity determined by immunoblotting. Blood 1987; 69: 1475-80.
64. Scandella D, Mattingly M, de Graaf S, Fulcher CA. Localization of epitopes for human factor VIII inhibitor antibodies by immunoblotting and antibody neutralization. Blood 1990; 74: 1618-26.
65. Millar DS, Steinbrecher RA, Wieland K, et al. The molecular genetic analysis of hemophilia A; characterization of six partial deletions of factor VIII gene. Hum Genet 1990; 86: 219-27.
66. Peake IR, Lillicrap DP, Boulyjenkov V, et al. Report of a joint WHO/WFH meeting on the control of haemophilia: carrier detection and prenatal diagnosis. Blood Coagulation Fibrinolysis 1993; 4: 313-44.
67. Antonarakis SE, Kazazian HH Jr. Hemophilias. In: Brock DJH, Rodeck CH, Ferguson-Smith MA, eds, Prenatal Diagnosis and Screening. Edinburgh: Churchill Livingstone, 1992; 477-81.
68. Bi L, Lawler AM, Antonarakis SE, High KA, Gerhart JD, Kazazian HH Jr. Targeted disruption of the mouse factor VIII gene: a model for hemophilia A. Nat Genet 1995; 10: 119-21.