Aberrant splicing and premature termination of transcription of the FVIII gene as a cause of severe canine hemophilia A: Similarities with the intron 22 inversion mutation in human hemophilia

Thrombosis and Haemostasis

Volumn 87, Issue 4, 2002, Pages 659-665

  Hough, Christine ^a   Kamisue, Seiki ^a   Cameron, Cherie ^a   Notley, Colleen ^a   Tinlin, Shawn ^a   Giles, Alan ^a   Lillicrap, David ^a  

^a QUEEN S UNIVERSITY   (Canada)

Author keywords

Hemophilia; Mutation; Splicing

Indexed keywords

BLOOD CLOTTING FACTOR 8; DNA; MESSENGER RNA;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CANADA; DISEASE SEVERITY; DOG; GENE MUTATION; GENE REARRANGEMENT; GENETIC DISORDER; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENOME; HEMOPHILIA A; HUMAN; HYBRIDIZATION; INTRON; MUTANT; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RNA PROCESSING;

EID: 0036212973     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1613063     Document Type: Article

References (37)

1. Characterization of the human factor VIII gene
2. The factor VIII structure and mutation resource site: HAMSTeRS version 4
3. Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients
4. Factor VIII gene rearrangements in patients with severe haemophilia A
5. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
6. Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions
7. Evidence for a third transcript from the human factor VIII gene
8. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions
9. A transcribed gene in an intron of the human factor VIII gene
10. Haemophilia A in a 3-year-old thoroughbred horse
11. Haemophilia in Hereford cattle: Factor VIII deficiency
12. Inherited defect of blood clotting factor VIII (haemophilia A) in sheep
13. Hemophilia A in three unrelated cats
14. Animal models of hemophilia
15. Haemophilia A in German shepherd dogs
16. Hemophilia A and hemophilia B in a family of French bulldogs
17. Classic hemophilia (hemophilia A) in a family of collies
18. A canine model of hemophilic (factor VIII:C deficiency) bleeding
19. Development of factor VIII:C antibodies in dogs with hemophilia A (factor VIII:C deficiency)
20. The development of homologous (canine/anti-canine) antibodies in dogs with haemophilia A (factor VIII deficiency): A ten-year longitudinal study
21. In vivo characterization of recombinant factor VIII in a canine model of hemophilia A (factor VIII deficiency)
22. Biochemical, immunological, and in vivo functional characterization of B-domain-deleted factor VIII
23. The role of factor VII in haemostasis: Infusion studies of factor VIIa in a canine model of factor VIII deficiency
24. Functional, biochemical, and morphological evaluations of experimental hemophilia therapies in animal models
25. Systemic delivery of an adenoviral vector encoding canine factor VIII results in short-term phenotypic correction, inhibitor development, and biphasic liver toxicity in hemophilia A dogs
26. Direct intramuscular injection with recombinant AAV vectors results in sustained expression in a dog model of hemophilia
27. Assay of factor VIII antigen (VIII:CAg) in 294 haemophilia A patients by a new commercial ELISA using monoclonal antibodies
28. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies
29. The canine factor VIII cDNA and 5′ flanking sequence
30. The roles of von Willebrand factor and factor VIII in arterial thrombosis: Studies in canine von Willebrand disease and hemophilia A
31. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
32. Exon recognition in vertebrate splicing
33. Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients
34. Polyadenylation site selection cannot occur in vivo after excision of the 3′-terminal intron
35. Utilization of splicing elements and polyadenylation signal elements in the coupling of polyadenylation and last-intron removal
36. Polyadenylation precedes splicing in vitro
37. Repair of CFTR mRNA by spliceosome-mediated RNA trans-splicing