Complex Genetics of Protein N-Glycosylation

Abstract

This chapter provides an overview of genetic regulation of glycosylation processes, with a focus especially on N-glycosylation of proteins. N-glycosylation is a highly abundant protein modification and N-glycans have numerous important structural, functional, and regulatory roles in various physiological processes. The number of genes involved in glycan synthesis is very large (>800) and, based on current knowledge, it is highly likely that this list of glyco-genes is still going to grow. Some of these glyco-genes encode proteins which are directly involved in glycan production (e.g., glycosyltransferases, glycosidases, nucleotide sugar transporters), while protein products of other glyco-genes participate in glycosylation mostly through regulatory interaction with key enzymes and other proteins that are directly involved in glycan assembly. Furthermore, accumulating evidences indicate that glycosylation processes are also affected by epigenetics.