The molecular genetics of the mouse Iβ-1,6- N-acetylglucosaminyltransferase locus

Abstract

The I antigen and its precursor, the i antigen, are carbohydrate structures and are found on the surface of most mammalian cells. Conversion of the i to the I structure requires I β-1,6- N-acetylglucosaminyltransferase activity. The present investigation demonstrates a novel transcript form expressed from the mouse I locus and elucidates the molecular genetics and the genomic organization of the mouse I locus. The mouse I locus was demonstrated to express three transcript forms, one newly identified and two previously reported, which have a different exon 1 but identical exons 2 and 3. The three transcripts were shown to express differentially in various mouse tissues, and all their protein products demonstrated GlcNAc-transferring activity in enzyme function assay. The molecular genetics proposed for the mouse I locus shows that it is homologous to the human I locus. It has been established recently that a defect in the human I locus may lead to the development of congenital cataracts. It was demonstrated that the mouse and the human I transcripts expressed in the epithelium cells of the mouse and human lens, respectively, are homologous forms.