Identification and characterization of mutations in the promoter region of the factor VIII gene

Journal of Thrombosis and Haemostasis

Volumn 10, Issue 2, 2012, Pages 314-317

  Zimmermann, M A ^a   Meier, D ^a   Oldenburg, J ^b   Muller C R ^a   Rost, S ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b UNIVERSITY OF BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; CCAAT ENHANCER BINDING PROTEIN;

EMBRYO; ENZYME ACTIVITY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSFECTION; HEMOPHILIA; HUMAN; HUMAN CELL; LETTER; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION;

ADENOSINE; CHROMOSOMES, HUMAN, X; FACTOR VIII; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENE EXPRESSION REGULATION, NEOPLASTIC; GUANOSINE; HEK293 CELLS; HEMOPHILIA A; HEP G2 CELLS; HUMANS; LUCIFERASES; MUTATION; NUCLEOTIDES; PROMOTER REGIONS, GENETIC; REPRODUCIBILITY OF RESULTS; SEQUENCE ANALYSIS, DNA;

EID: 84856514825     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2011.04574.x     Document Type: Letter

References (18)

1. Graw J, Brackmann HH, Oldenburg J, Schneppenheim R, Spannagl M, Schwaab R. Haemophilia A: from mutation analysis to new therapies. Nat Rev Genet 2005; 6: 488-501.
2. Oldenburg J, Schwaab R. Molecular biology of blood coagulation. Semin Thromb Hemost 2001; 27: 313-24.
3. Oldenburg J, Ananyeva NM, Saenko EL. Molecular basis of haemophilia A. Haemophilia 2004; 10: 133-9.
4. Vehar GA, Keyt B, Eaton D, Rodriguez H, O'Brien DP, Rotblat F, Oppermann H, Keck R, Wood WI, Harkins RN, Tuddenham EGD, Lawn RM, Dapon DJ. Structure of human factor VIII. Nature 1984; 312: 337-42.
5. Lakich D, Kazazian HH Jr, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 1993; 5: 236-41.
6. The Haemophilia A Mutation, Structure, Test and Resource Site. Accessed 22 February 2010.
7. Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002; 99: 168-74.
8. Pavlova A, Förster T, Delev D, Schröder J, El-Maarri O, Müller-Reible C, Oldenburg J. Heterozygous large deletions of Factor 8 gene in females identified by multiplex PCR-LC. Haemophilia 2008; 14: 599-606.
9. Rost S, Löffler S, Pavlova A, Müller CR, Oldenburg J. Detection of large duplications within the factor VIII gene by MLPA. J Thromb Haemost 2008; 6: 1996-9.
10. Klopp N, Oldenburg J, Uen C, Schneppenheim R, Graw J. 11 hemophilia A patients without mutations in the factor VIII encoding gene. Thromb Haemost 2002; 88: 357-60.
11. Bogdanova N, Markoff A, Eisert R, Wermes C, Pollmann H, Todorova A, Chlystun M, Nowak-Göttl U, Horst J. Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A. Hum Mutat 2007; 28: 54-60.
12. Riccardi F, Rivolta GF, Franchini M, Pattacini C, Neri TM, Tagliaferri A. Characterization of a novel mutation in the F8 promoter region associated with mild hemophilia A and resistance to DDAVP therapy. J Thromb Haemost 2009; 7: 1234-5.
13. Dai L, Cutler JA, Savidge GF, Mitchell MJ. Characterization of a causative mutation of hemophilia A identified in the promoter region of the factor VIII gene (F8). J Thromb Haemost 2008; 6: 193-5.
14. Gitschier J, Wood WI, Goralka TM, Wion KL, Chen EY, Eaton DH, Vehar GA, Capon DJ, Lawn RM. Characterization of the human factor VIII gene. Nature 1984; 312: 326-30.
15. Figueiredo MS, Brownlee GG. Cis-acting elements and transcription factors involved in the promoter activity of the human factor VIII gene. J Biol Chem 1995; 270: 11828-38.
16. McGlynn LK, Mueller CR, Begbie M, Notley CR, Lillicrap D. Role of the liver-enriched transcription factor hepatocyte nuclear factor 1 in transcriptional regulation of the factor VIII gene. Mol Cell Biol 1996; 16: 1936-45.
17. Schrem H, Klempnauer J, Borlak J. Liver-enriched transcription factors in liver function and development. Part II: the C/EBPs and D site-binding protein in cell cycle control, carcinogenesis, circadian gene regulation, liver regeneration, apoptosis, and liver-specific gene regulation. Pharmacol Rev 2004; 56: 291-330.
18. Ryden TA, Beemon K. Avian retroviral long terminal repeats bind CCAAT/enhancer-binding protein. Mol Cell Biol 1989; 9: 1155-64.