Human platelet glycoproteins V and IX: mapping of two leucine-rich glycoprotein genes to chromosome 3 and analysis of structures.

Human platelet glycoproteins Ib alpha, Ib beta, V, and IX comprise an interrelated set of molecules (the Ib-V-IX system) that together form a surface adhesion receptor for the ligand, von Willebrand factor. To complete the primary structural characterization of the genes involved in this system, we have analyzed cosmid clones for both the glycoprotein V and IX genes and used these clones to localize the two genes by fluorescence in situ hybridization. Both genes were found on the long arm of chromosome 3, but at distinct sites, the GPV gene on 3 band q29 and the GP IX gene on 3 band q21. The transcriptional start site of the GPV gene was defined by "anchored" PCR and primer extension. The GPV gene contains two exons, the first consisting of approximately 37 bases and the second of approximately 3500 bases, interrupted by a single 958 base intron. The GPV transcript has multiple start sites spread over a twenty base region. The 5' flanking region of the GPV gene has a series of potential consensus regulatory elements including GATA, ets, and Sp-1 sites, similar to those found in other described megakaryocyte/platelet genes, including those of the Ib-V-IX system. In assessing the four Ib-V-IX genes as a group, all four have a simple, "intron-depleted" structure with the entire open reading frame of the mature polypeptide located within a single exon.(ABSTRACT TRUNCATED AT 250 WORDS)