An insertion mutation of the bovine F11 gene is responsible for factor XI deficiency in Japanese black cattle

Mammalian Genome

Volumn 16, Issue 5, 2005, Pages 383-389

  Kunieda, Masaki ^a   Tsuji, Takehito ^a   Abbasi, Abdol Rahim ^a,c   Khalaj, Maryam ^a   Ikeda, Miho ^b   Miyadera, Keiko ^b   Ogawa, Hiroyuki ^b   Kunieda, Tetsuo ^a  

^a OKAYAMA UNIVERSITY   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c ISFAHAN UNIVERSITY OF TECHNOLOGY   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; BLOOD CLOTTING FACTOR 9; DNA; NUCLEOTIDE;

AMINO ACID SEQUENCE; ARTICLE; BLEEDING DISORDER; CATTLE; COMPARATIVE STUDY; COW; DIAGNOSTIC PROCEDURE; EXON; GENE INSERTION; GENE ISOLATION; GENE MUTATION; GENETIC CODE; GENOTYPE; INCIDENCE; INTRON; NONHUMAN; NUCLEOTIDE SEQUENCE; PROTEIN DOMAIN;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CATTLE; CATTLE DISEASES; CHROMOSOME MAPPING; DNA PRIMERS; DNA TRANSPOSABLE ELEMENTS; EXONS; FACTOR XI; FACTOR XI DEFICIENCY; GENES, RECESSIVE; HUMANS; INTRONS; MICE; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID;

ANIMALIA; BOS TAURUS; BOVINAE; MALUS X DOMESTICA;

EID: 23844526880     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00335-004-2462-5     Document Type: Article

References (29)

1. Asakai R, Davie EW, Chung DW (1987) Organization of the gene for human factor XI. Biochemistry 26, 7221-7228
2. Asakai R, Chung DW, Ratnoff OD, Davie EW (1989) Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. Proc Natl Acad Sci USA 86, 7667-7671
3. Baglia FA, Walsh PN (1996) A binding site for thrombin in the apple 1 domain of factor XI. J Biol Chem 271, 3652-3658
4. Baglia FA, Jameson BA, Walsh PN (1990) Localization of the high molecular weight kininogen binding site in the heavy chain of human factor XI to amino acids phenylalanine 56 through serine 86. J Biol Chem 265, 4149-4154
5. Baglia FA, Jameson BA, Walsh PN (1993) Identification and characterization of a binding site for factor XIIa in the Apple 4 domain of coagulation factor XI. J Biol Chem 268, 3838-3844
6. Bolton-Maggs PH, Young Wan-Yin B, McCraw AH, Slack J, Kernoff PB (1988) Inheritance and bleeding in factor XI deficiency. Br J Haematol 69, 521-528
7. Bouma BN, Griffin JH (1977) Human blood coagulation factor XI. Purification, properties, and mechanism of activation by activated factor XII. J Biol Chem 252, 6432-6437
8. Cheng Q, Sun MF, Kravtsov DV, Aktimur A, Gailani D (2003) Factor XI apple domains and protein dimerization. J Thromb Haemost 1, 2340-2347
9. Coomber BL, Galligan CL, Gentry PA (1997) Comparison of in vitro function of neutrophils from cattle deficient in plasma factor XI activity and from normal animals. Vet Immunol Immunopathol 58, 121-131
10. Cooper DN, Krawczak K (1993) Human Gene Mutation (Oxford, UK: BIOS Scientific Publishers Limited)
11. Davie EW, Fujikawa K, Kisiel W (1991) The coagulation cascade: initiation, maintenance, and regulation. Biochemistry 30, 10363-10370
12. Dodds WJ, Kull JE (1971) Canine factor XI (plasma thromboplastin antecedent) deficiency. J Lab Clin Med 78, 746-752
13. Dossenbach-Glaninger A, Krugluger W, Schrattbauer K, Eder S, Hopmeier P (2001) Severe factor XI deficiency caused by compound heterozygosity for the type III mutation and a novel insertion in exon 9 (codons 324/325 +G). Br J Haematol 114, 875-877
14. Fujikawa K, Chung DW, Hendrickson LE, Davie EW (1986) Amino acid sequence of human factor XI, a blood coagulation factor with four tandem repeats that are highly homologous with plasma prekallikrein. Biochemistry 25, 2417-2424
15. Gailani D, Broze GJ Jr (1991) Factor XI activation in a. revised model of blood coagulation. Science 253, 909-912
16. Gentry PA, Ross ML (1993) Coagulation factor XI deficiency in Holstein cattle: expression and distribution of factor XI activity. Can J Vet Res 58, 242-247
17. Gentry PA, Crane S, Lotz F (1975) Factor XI (plasma thromboplastin antecedent) deficiency in cattle. Can Vet J 16, 160-163
18. Kociba GJ, Ratnoff OD, Loeb WF, Wall RL, Heider LE (1969) Bovine plasma thromboplastin antecedent (Factor XI) deficiency. J Lab Clin Med 74, 37-41
19. Kravtsov DV, Wu W, Meijers JC, Sun MF, Blinder MA, et al. (2004) Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. Blood 104, 128-134
20. Liptrap RM, Gentry PA, Ross ML, Cummings E (1995) Preliminary findings of altered follicular activity in Holstein cows with coagulation factor XI deficiency. Vet Res Commun 19, 463-471
21. Marron BM, Robinson JL, Gentry PA, Beever JE (2004) Identification of a mutation associated with factor XI deficiency in Holstein cattle. Anim Genet 35, 454-456
22. McMullen BA, Fujikawa K, Davie EW (1991) Location of the disulfide bonds in human coagulation factor XI: the presence of tandem apple domains. Biochemistry 30, 2056-2060
23. Meijers JC, Davie EW, Chung DW (1992a) Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency. Blood 79, 1435-1440
24. Meijers JC, Mulvihill ER, Davie EW, Chung DW (1992b) Apple four in human blood coagulation factor XI mediates dimer formation. Biochemistry 31, 4680-4684
25. Pugh RE, McVey JH, Tuddenham EG, Hancock JF (1995) Six point mutations that cause factor XI deficiency. Blood 85, 1509-1516
26. Seligsohn U (1993) Factor XI deficiency. Thromb Haemost 70, 68-71
27. Seligsohn U, Modan M (1981) Definition of the population at risk of bleeding due to factor XI deficiency in Ashkenazi Jews and the value of activated partial thromboplastin time in its detection. Isr J Med Sci 17, 413-415
28. Sun Y, Gailani D (1996) Identification of a factor IX binding site on the third apple domain of activated factor XI. J Biol Chem 271, 29023-23028
29. Zivelin A, Bauduer F, Ducout L, Peretz H, Rosenberg N, et al. (2002) Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. Blood 99, 2448-2454