Literature DB >> 1427887

Evidence for a third transcript from the human factor VIII gene.

B Levinson1, S Kenwrick, P Gamel, K Fisher, J Gitschier.   

Abstract

Intron 22 of the human factor VIII gene was recently found to contain a gene, associated with a CpG island, which is transcribed in the direction opposite to factor VIII. We now report that another transcript emanates from the island and is transcribed in the same direction as factor VIII. The divergent transcripts originate within 122 bases of each other. The newly identified 5' exon in intron 22 potentially codes for eight amino acids and is spliced to exons 23-26, with the factor VIII reading frame maintained. The protein encoded by this transcript would include the factor VIII C2 domain, responsible for phospholipid binding and essential for coagulant activity.

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Year:  1992        PMID: 1427887     DOI: 10.1016/s0888-7543(05)80155-7

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  20 in total

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Review 4.  Computational methods for exon detection.

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5.  Influence of single nucleotide polymorphisms in factor VIII and von Willebrand factor genes on plasma factor VIII activity: the ARIC Study.

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Review 6.  The intron-22-inverted F8 locus permits factor VIII synthesis: explanation for low inhibitor risk and a role for pharmacogenomics.

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8.  Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

Authors:  E G Tuddenham; R Schwaab; J Seehafer; D S Millar; J Gitschier; M Higuchi; S Bidichandani; J M Connor; L W Hoyer; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1994-09       Impact factor: 16.971

9.  High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients.

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