Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency. Partial/complete deletions and rearrangement of the antithrombin gene

Thrombosis and Haemostasis

Volumn 83, Issue 5, 2000, Pages 715-721

  Beauchamp, N J ^a   Makris, M ^a   Preston, F E ^a   Peake, I R ^a   Daly, M E ^a,b  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

^b ROYAL HALLAMSHIRE HOSPITAL   (United Kingdom)

Author keywords

Antithombin deficiency; Major gene defects

Indexed keywords

ANTITHROMBIN;

ANTITHROMBIN DEFICIENCY; ARTICLE; CLINICAL ARTICLE; DNA REPLICATION; DNA STRAND BREAKAGE; EXON; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC TRANSCRIPTION; HUMAN; INTRON; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHERN BLOTTING; THROMBOEMBOLISM;

EID: 0034018595     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1613898     Document Type: Article

References (30)

1. Huber R. Carrell RW. Implications of the three-dimensional structure of α1-antitrypsin for the structure and function of serpins. Biochemistry 1989; 28: 8951-66.
2. Abildgaard U. Highly purified antithrombin III with heparin cofactor activity prepared by disc gel electrophoresis. Scand J Clin Lab Invest 1968; 21: 89-91.
3. Abildgaard U. Binding of thrombin to antithrombin III. Scand J Clin Lab Invest 1969; 24: 23-7.
4. Rosenberg RD, Damus PS. The purification and mechanism of action of human antithrombin-heparin cofactor. J Biol Chem 1973; 248: 6490-505.
5. Lane DA, Kunz G, Olds RJ, Thein SL. Molecular genetics of antithrombin deficiency. Blood Reviews 1996; 10: 59-74.
6. Engh RA, Huber R, Bode W, Schulze AJ. Divining the serpin inhibition mechanism: A suicide substrate 'spring'? Trends Biotech 1995; 13: 503-10.
7. Wright HT, Scarsdale JN. Structural basis for serpin inhibitor activity. Proteins 1995; 22: 210-25.
8. Marcum JA, Rosenberg RD. Anticoagulantly active heparin-like molecules from vascular tissue. Biochemistry 1984; 23: 1730-7.
9. Marcum JA, Atha DH, Fritze LMS, Nawroth P, Stern D, Rosenberg RD. Cloned bovine aortic endothelial cells synthesize anticoagulantly active heparan sulfate proteoglycan. J Biol Chem 1986; 261: 7507-17.
10. Lane DA, Mannucci PM, Bauer KA, Bertina RM, Bochkov NP, Boulyjenkov V, Chandy M, Dahlbäck B. Ginter EK, Miletich JP, Rosendaal FR, Seligsohn U. Inherited thrombophilia: Part 1. Thromb Haemost 1996; 76: 651-62.
11. Lane DA, Bayston T, Olds RJ, Fitches AC, Cooper DN, Millar DS, Jochmans K, Perry DJ, Okajima K, Thein SL, Emmerich J. Antithrombin mutation database: 2nd (1997) Update. Thromb Haemost 1997; 77: 197-211.
12. Bock SC, Harris JF, Balazs I, Trent JM. Assignment of the human antithrombin III structural gene to chromosome 1q23-25. Cytogenet Cell Genet 1985; 39: 67-9.
13. Olds RJ, Lane DA, Chowdhury V, De Stefano V, Leone G, Thein SL. Complete nucleotide sequence of the antithrombin gene: Evidence for homologous recombination causing thrombophilia. Biochemistry 1993; 32: 4216-24.
14. Olds RJ, Lane DA, Chowdhury V, Sas G, Pabinger I, Auberger K, Thein SL. ATT trinucleotide repeats in the antithrombin gene and their use in determining the origin of repeated mutations. Hum Mut 1994; 4: 31-41.
15. Perry DJ. Trinucleotide repeat polymorphism in the human antithrombin III (AT3) gene. Hum Mol Genet 1993; 2: 618.
16. Lane DA, Ireland H, Olds RJ, Thein SL, Perry DJ, Aiach M. Antithrombin III: A database of mutations. Thromb Haemost 1991; 66: 657-61.
17. Emmerich J, Vidaud D, Alhenc-Gelas M, Chadeuf G, Gouault-Heilmann M, Aillaud MF, Aiach M. Three novel mutations of antithrombin inducing high molecular mass compounds. Arterioscler Thromb 1994; 14: 1958-65.
18. Fernandez-Rachubinski F, Rachubinski RA, Blajchman MA. Partial deletion of antithrombin III allele in a kindred with a type I deficiency. Blood 1992; 80: 1476-85.
19. Jochmans K, Lissens W, Seneca S, Capel P, Chatelain B, Meeus P, Osselaer JC, Peerlinck K, Seghers J, Slacmeulder M, Stibbe J, van de Loo J, Vermylen J, Liebaers I, De Waele M. The molecular basis of antithrombin deficiency in Belgian and Dutch families. Thromb Haemost 1998; 80: 376-81.
20. Beauchamp NJ, Pike RN, Daly M, Butler L, Makris M, Dafforn TR, Zhou A, Fitton HL, Preston FE, Peake IR, Carrell RW. Antithrombins Wibble and Wobble (T85M/K): Archetypal conformational diseases with in vivo latent-transition, thrombosis and heparin activation. Blood 1998; 92: 2696-706.
21. Wu S, Seino S, Bell GI. Human antithrombin III (AT3) gene length polymorphism revealed by the polymerase chain reaction. Nucl Acids Res 1989; 17: 6431
22. Prochownik EV, Antonarakis S, Bauer KA, Rosenberg RD, Fearon ER, Orkin SH. Molecular heterogeneity of inherited antithrombin III deficiency. N Engl J Med 1983; 308: 1549-52.
23. Cooper DN, Krawczak M. Human Gene Mutation. Oxford, UK, Bios Scientific Publishers, 1993
24. Lehrman MA, Russell DW, Goldstein JL, Brown MS. Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia. Proc Natl Acad Sci USA 1986; 83: 3679-83.
25. Rubin CM, Houck CM, Deininger PL, Friedmann T, Schmid CW. Partial nucleotide sequence of the 300-nucleotide interspersed repeated human DNA sequences. Nature 1980; 284: 372-4.
26. Deininger PL, Jolly DJ, Rubin CM, Friedmann T, Schmid CW. Base sequence studies of 300 nucleolide renatured repeated human DNA clones. J Mol Biol 1981; 151: 17-33.
27. Efstratiadis A, Posakony JW, Maniatis T, Lawn RM, O'Connell C, Spritz RA, DeRiel JK, Forget BG, Weissman SM, Slightom JL, Blechl AE, Smithies O, Baralle FE, Shoulders CC, Proudfoot NJ. The structure and evolution of the human β-globin gene family. Cell 1980; 21: 653-68.
28. Lehrman MA, Russell DW, Goldstein JL, Brown MS. Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia. J Biol Chem 1987; 262: 3354-61.
29. Paolella G, Lucero MA, Murphy MH, Baralle FE. The Alu family repeat promoter has a tRNA-like bipartite structure. EMBO J 1983; 2: 691-6.
30. Olds RJ, Lane DA, Chowdhury V, Samson D, DeStefano V, Leone G, Wiesel ML, Cazenave J-P, Conard J, Thein SL. Major rearrangements within the antithrombin gene locus: An unusual cause for inherited antithrombin deficiency. Br J Haematol Int Soc Haematol., Congr. 24th, p 40, 1992 (abstr).