Disease relevance of Mgat1

• A 1250 bp portion of the mouse cDNA encoding all but the first 34 amino acids of the deduced protein sequence was inducibly expressed in Escherichia coli and gave rise to a prominent fusion protein of mol. wt approximately 45 kDa whose presence correlated with high levels of GlcNAc-TI activity in cell lysates [1].

High impact information on Mgat1

• The removal of both maternal and zygotic Mgat1 also gave rise to embryos that no longer express the horseradish peroxidase antigen within the central nervous system [2].
• The nucleotide and deduced amino acid sequences are highly homologous to previously described human and rabbit GlcNAc-TI cDNAs [1].
• Southern analyses of DNA from mouse-human somatic cell hybrids and in situ hybridization were used to locate the human GlcNAc-TI gene (MGAT-1) between positions q31.2 and q31.3 on chromosome 5, a region of chromosome 5 that is syntenic with a region of mouse chromosome 11 [1].
• Whereas mice and Drosophila melanogaster with null mutations in Mgat1 suffer severe developmental abnormalities, all seven C. elegans strains with null mutations in the genes encoding beta1,2-N-acetylglucosaminyltransferase I develop normally and seem to have a wild-type phenotype [3].

References