Targeted inactivation of the coagulation factor IX gene causes hemophilia B in mice

Blood

Volumn 92, Issue 1, 1998, Pages 168-174

  Kundu, Ramendra Krishna ^b   Sangiorgi, Frank ^b   Wu, Lang Ying ^b   Kurachi, Kotoku ^b   French Anderson, W ^b   Maxson, Robert ^b   Gordon, Erlinda M ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 9; DNA; NEOMYCIN; PHOSPHOGLYCERATE KINASE; RNA;

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE ACTIVATION; GENE MUTATION; GENE THERAPY; GENOTYPE; HEMOPHILIA B; MALE; MOUSE; NONHUMAN; NORTHERN BLOTTING; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING;

EID: 0032125715     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v92.1.168.413k06_168_174     Document Type: Article

References (35)

1. Kurachi K, Kurachi S, Furukawa M, Yao SN: Biology of factor DC. Blood Coagul Fibrinolysis 4:953,1993
2. Gerrard AJ, Hudson DL, Brownlee GG, Watt FM: Towards gene therapy for hemophilia B using primary human keratinocytes. Nat Genet 3:180,1993
3. Lozier JN, Brinkhous KM: Gene therapy and the hemophilias. JAMA 271:47,1994
4. Chance PF, Dyer KA, Kurachi K, Yoshitake S, Ropers H, Wieacker P, Gartler SM: Regional localization of human factor IX gene by molecular hybridization. Hum Genet 65:207,1983
5. Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K: Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry 24:3736,1985
6. Yao S-N, Desilva AH, Kurachi S, Samuelson LC, Kurachi K: Characterization of a mouse factor IX cDNA and developmental regulation of the factor IX gene expression in liver. Thromb Hemost 65:52,1991
7. Bottema CD, Bottema MJ, Ketterling RP, Yoon HS, Janco RL, Phillips JA, Sommer SS: Why does the human IX hene have a G+C content of 40%? Am J Hum Genet 49:839,1991
8. Bottema CD, Ketterling RP, Vielhaber E, Yoon HS, Gostout B, Jacobson P, Shapiro A, Sommer SS: The pattern of spontenaeous germline mutation: Relative rates of mutation at or near CpG dinucleotides in the FIX gene. Hum Genet 91:496,1993
9. Roberts HR: Molecular biology of hemophilia B. Thromb Hemost 70:1,1993
10. Giannelli F, Green PM, Sommer SS, Poon MC, Ludwig M, Schwaab R, Reitsma PH, Goosens M, Yoshioka A, Brownlee GG: Hemophilia B (sixth edition): A database of point mutations and short additions and deletions. Nucleic Acids Res 24:103,1996
11. Strauss WM: Screening recombinant DNA libraries, in Ausubel FM, Brent R, Kinsgton RE, Moore DD, Seidman JG, Smith JA, Struhl K (eds): Current Protocols in Molecular Biology, vol 1. New York, NY, Wiley, 1993, p 6.3.1
12. Komori T, Okada A, Stewart V, Alt FW: Lack of N regions in antigen receptor variable region genes of TdT-deficient lymphocytes. Science 261:1171,1993
13. Mortensen RM, Conner DA, Chao S, Geisterfer-Lowrance AT, Seidman JG: Production of homozygous mutant ES cells with a single targeting construct. Mol Cell Biol 12:2391,1992
14. Thomas KR, Capecchi MR: Site-directed mutagenesis by gene targeting in mouse embryo-derived stem cells. Cell 51:503,1987
15. Mansour SL, Thomas KR, Capecchi MR: Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells: A general strategy for targeting mutations to non-selectable genes. Nature 336:348,1988
16. Ramirez-Solis R. Davis AC, Bradley A: Gene targeting in embryonic stem cells, in Wassarman PM, DePamphilis ML (eds): Methods in Enzymology, vol 225. San Diego, CA, Academic, 1993, p 855
17. Hogan B, Beddington R, Costantini F, Lacy E: Isolation, culture, and manipulation of embryonic stem cells, in Manipulating the Mouse Embryo, a Laboratory Manual (ed 2). Plainview, NY, Cold Spring Harbor Laboratory, 1994, p 253
18. Gordon EM, Tang H, Salazar RL, Kohn DB: Expression of coagulation factor IX (Christmas factor) in human hepatoma (HepG2) cell cultures after retroviral vector-mediated transfer. Am J Pediatr HematolOncol 15:196,1993
19. Gordon EM, D'Alisa R, Tang H, Salazar R, Sabatino R, Dorio R, Kohn DB, Holt J: Characterization of a monoclonal antibody-purified recombinant factor IX produced in human hepatoma (HepG2) cell cultures after retroviral vector-mediated transfer. Int J Pediatr Hematol Oncol 2:185,1995
20. Gordon EM, Skotzko M, Kundu RK, Han B, Andrades J, Nimni M, Anderson WF, Hall FL: Capture and expansion of bone marrow-derived mesenchymal progenitor cells with a transforming growth factor-β1-von Willebrand's factor fusion protein for retrovirus-mediated delivery of coagulation factor IX. Hum Gene Ther 8:1385,1997
21. Kurachi S, Hitomi E, Kurachi K: Age and sex dependent regulation of the factor IX gene in mice. Thromb Hemost 76:965,1996
22. Reiner AP, Davie EW: Introduction to hemostatic and the vitamin K-dependent coagulation factors, in Sen ver CR, Beaudet AL, Sly WS, Vall D (eds): The Metabolic Basis of Inherited Disease, vol 3. New York, NY, McGraw Hill, 1995, p 3181
23. Scharfmann R, Axelrod JH, Verma IM: Long term in vivo expression of retrovirus mediated gene transfer in mouse fibroblast implants. Proc Natl Acad Sci USA 88:4620,1991
24. Yao SN, Kurachi K: Expression of human factor IX in mice after injection of genetically modified myoblasts. Proc Natl Acad Sci USA 89:3357,1992
25. Smith TAG, Mehaffey MG, Kayda DB, Saunders JM, Yei S, Trapnell BC, McClelland A, Kaleko M: Adenovirus-mediated expression of therapeutic plasma levels of human factor IX in mice. Nat Genet 5:397,1993
26. Kay MA, Rothenberg S, Landen CN, Bellinger DA, Leland F, Toman C, Finegold M, Thompson AR, Read MS, Brinkhous KM: In vivo gene therapy of hemophilia B: Sustained partial correction in factor IX-defkient dogs. Science 262:117,1993
27. Kay MA, Landen CN, Rothenberg SR, Taylor LA, Leland F, Wiehle S, Fang B, Bellinger D, Finegold M, Thompson AR: In vivo hepatic gene therapy: Complete albeit transient correction of factor IX deficiency in hemophilic B dogs. Proc Nad Acad Sci USA 91:2353,1994
28. Hao QL, Malik P, Salazar R, Tang H, Gordon EM, Kohn DB: Expression of biologically active human factor IX in human hematopoietic cells after retroviral vector-mediated gene transduction. Hum Gene Ther 6:873,1995
29. Fang B, Eisensmith RC, Wang H, Kay MA, Cross RE, Landen CN, Gordon G, Bellinger DA, Read MS, Hu PC: Gene therapy for hemophilia B: Host immunosuppression prolongs the therapeutic effect of adenovirus-mediated factor IX expression. Hum Gene Ther 6:1039,1995
30. Wang JM, Zheng H, Sugahara Y, Tan J, Yao S-N, Olsen E, Kurachi K: Construction of human factor IX expression vectors in retroviral vector frames optimized for muscle cells. Hum Gene Ther 7:1743,1996
31. Chen L, Perlick H, Morgan RA: Comparison of rertoviral and adeno-associated viral vectors designed to express human cloning factor IX. Hum Gene Ther 8:125,1997
32. Dai Y, Schwarz EM, Gu D, Zhang WW, Sarvetnick N, Verma IM: Cellular and humoral immune responses to adenoviral vectors containing factor IX gene: Tolerization of factor IX and vector antigens allows for long term expression. Proc Natl Acad Sci USA 92:1401,1995
33. Snyder RO, Miao CH, Patijn GA, Spratt SK, Danos O, Nagy D, Gown AM, Winther B, Meuse L, Cohen LK, Thompson AR, Kay MA: Persistent and therapeutic concentrations of human factor IX in mice after hepatic gene transfer of recombinant AAV vectors. Nat Genet 16:270,1997
34. Wang L, Zoppe M, Hackeng TM, Griffin JH, Lee K-F, Verma IM: A factor IX deficient mouse model for hemophilia B gene therapy. Proc Natl Acad Sci 94:11563,1997
35. Lin H-F, Maeda N, Smithies O, Straight DL, Stafford DW: A coagulation factor TX-deficient mouse model for human hemophilia B. Blood 90:3962,1997