Characterization of a causative mutation of hemophilia A identified in the promoter region of the factor VIII gene [1]

Journal of Thrombosis and Haemostasis

Volumn 6, Issue 1, 2008, Pages 193-195

  Dai, L ^a   Cutler, J A ^a   Savidge, G F ^a   Mitchell, M J ^a  

^a St Thomas'Hospital   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; CYTOSINE; DNA; THYMINE; TRANSCRIPTION FACTOR; VON WILLEBRAND FACTOR;

ADULT; ALLELE; CASE REPORT; CODON; DNA PROTEIN COMPLEX; EXON; GEL MOBILITY SHIFT ASSAY; GENE AMPLIFICATION; GENETIC POLYMORPHISM; GENETIC TRANSFECTION; GENETIC VARIABILITY; HEMOPHILIA A; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOSPITAL ADMISSION; HUMAN; LETTER; MALE; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS;

BINDING SITES; ELECTROPHORETIC MOBILITY SHIFT ASSAY; FACTOR VIII; HEMOPHILIA A; HUMANS; MUTATION; PEDIGREE; PROMOTER REGIONS (GENETICS); TRANSCRIPTION FACTORS;

EID: 37549017693     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2007.02806.x     Document Type: Letter

References (11)

1. Oldenburg J, Ananyeva NM, Saenko EL. Molecular basis of haemophilia A. Haemophilia 2004; 10 (Suppl. 4): 133-9.
2. Kemball-Cook G Haemophilia A Mutation Database. http://europium.csc.mrc.ac.uk/WebPages/Main/main.htm; accessed 23 November 2007.
3. Uen C, Oldenburg J, Schroder J, Brackmann HJ, Schramm W, Schwaab R, Schneppenheim R, Graw J. 2% Haemophilia A patients without mutation in the FVIII gene. Hamostaseologie 2003; 23: 1-5.
4. Bogdanova N, Markoff A, Eisert R, Wermes C, Pollmann H, Todorova A, Chlystun M, Nowak-Gottl 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.
5. 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.
6. Begbie M, Mueller C, Lillicrap D. Enhanced binding of HLF/DBP heterodimers represents one mechanism of PAR protein transactivation of the factor VIII and factor IX genes. DNA Cell Biol 1999; 18: 165-73.
7. 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.
8. Hoshi H, McKeehan WL. Brain- and liver cell-derived factors are required for growth of human endothelial cells in serum-free culture. Proc Natl Acad Sci USA 1984; 81: 6413-7.
9. Hoppe-Seyler F, Butz K, Rittmuller C, von Knebel Doeberitz M. A rapid microscale procedure for the simultaneous preparation of cytoplasmic RNA, nuclear DNA binding proteins and enzymatically active luciferase extracts. Nucleic Acids Res 1991; 19: 5080.
10. Picketts DJ, Mueller CR, Lillicrap D. Transcriptional control of the factor IX gene: Analysis of five cis -acting elements and the deleterious effects of naturally occurring hemophilia B Leyden mutations. Blood 1994; 84: 2992-3000.
11. Carew JA, Pollak ES, High KA, Bauer KA. Severe factor VII deficiency due to a mutation disrupting an Sp1 binding site in the factor VII promoter. Blood 1998; 92: 1639-45.