title: The human gene for von Willebrand factor. Identification of repetitive Alu sequences 5' to the transcription initiation site.
abstract: The region at the 5' end of von Willebrand factor gene was cloned by screening genomic libraries with a partial von Willebrand factor cDNA probe and oligonucleotides complementary to areas of von Willebrand factor mRNA at the extreme 5' end of the untranslated region. The sequence 2158 bp upstream of the transcription initiation site, the first exon and first exon-intron junction is reported. The first exon includes the entire 5' untranslated sequence (250 bp) and the translation initiation codon starts the second exon, suggesting an unusual control mechanism for the cell specific expression of von Willebrand factor. An AT-rich region resembling a TATA box is found 32 bp upstream of the transcription initiation site. At -1030 and -1806 nucleotides 5' of the TATA box are two repetitive Alu sequences of approximately 300 bp. Recombinant events at these Alu sequences could result in some clinical forms of von Willebrand disease involving transcriptional defects.
authors.affiliation: INSERM U. 143 Hôpital de Bicêtre, France.
authors.forename: Z
authors.initials: Z
authors.lastname: Assouline
authors.forename: D M
authors.initials: DM
authors.lastname: Kerbiriou-Nabias
authors.forename: G
authors.initials: G
authors.lastname: Piétu
authors.forename: N
authors.initials: N
authors.lastname: Thomas
authors.forename: B R
authors.initials: BR
authors.lastname: Bahnak
authors.forename: D
authors.initials: D
authors.lastname: Meyer
mesh_terms: D001483:Base Sequence; D003001:Cloning, Molecular; D006801:Humans; D008969:Molecular Sequence Data; D010442:Peptide Chain Initiation, Translational; D012091:Repetitive Sequences, Nucleic Acid; D014158:Transcription, Genetic; D014841:von Willebrand Factor / Q000235:genetics*
chemical_list: D014841:von Willebrand Factor