The human von Willebrand factor gene. Structure of the 5' region

Abstract

Von Willebrand factor (vWF) is a multimeric glycoprotein product of endothelial cells and platelets, that is important for normal hemostasis. Recently the complete primary structure of the vWF precursor was deduced from cloned complementary DNAs (cDNAs). To approach the analysis of DNA elements that mediate tissue-specific expression, we have characterized the region of the human vWF gene surrounding the transcriptional initiation site, and including the first five exons. The putative vWF promoter region includes an (A + T)-rich 'TATA'-like element approximately 30 bp upstream of the transcription start site, but no CCAAT or 'GC' box elements (typical motifs of other promoters). A (GT)n repeat element of uncertain significance is located about 650 bp farther upstream. The DNA sequence of the 5' flanking region suggests the presence of potentially novel elements involved in regulation of the restricted expression of vWF.