What Have We Learned from Glycosyltransferase Knockouts in Mice?

There are five major classes of glycan including N- and O-glycans, glycosaminoglycans, glycosphingolipids, and glycophosphatidylinositol anchors, all expressed at the molecular frontier of each mammalian cell. Numerous biological consequences of altering the expression of mammalian glycans are under...

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Bibliographic Details
Published in:Journal of molecular biology 2016-08, Vol.428 (16), p.3166-3182
Main Author: Stanley, Pamela
Format: Article
Language:English
Subjects:
Animals
embryogenesis
genes
glycosaminoglycans
glycosidase
glycosphingolipids
Glycosylation
glycosyltransferase
Glycosyltransferases - genetics
Humans
Mice
Mice, Knockout
morbidity
mouse mutants
mutants
mutation
Mutation - genetics
nucleotide sugar
phenotype
Polysaccharides - genetics
sequence analysis
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Summary:There are five major classes of glycan including N- and O-glycans, glycosaminoglycans, glycosphingolipids, and glycophosphatidylinositol anchors, all expressed at the molecular frontier of each mammalian cell. Numerous biological consequences of altering the expression of mammalian glycans are understood at a mechanistic level, but many more remain to be characterized. Mouse mutants with deleted, defective, or misexpressed genes that encode activities necessary for glycosylation have led the way to identifying key functions of glycans in biology. However, with the advent of exome sequencing, humans with mutations in genes involved in glycosylation are also revealing specific requirements for glycans in mammalian development. The aim of this review is to summarize glycosylation genes that are necessary for mouse embryonic development, pathway-specific glycosylation genes whose deletion leads to postnatal morbidity, and glycosylation genes for which effects are mild, but perturbation of the organism may reveal functional consequences. General strategies for generating and interpreting the phenotype of mice with glycosylation defects are discussed in relation to human congenital disorders of glycosylation (CDG). [Display omitted] •Glycosyltransferase gene knockouts that are embryonic lethal in mammals•Glycosyltransferase gene knockouts that give rise to postnatal morbidity•Glycosyltransferase gen knockouts that have few consequences•Mouse models of human disease – congenital diseases of glycosylation
ISSN:0022-2836
1089-8638
DOI:10.1016/j.jmb.2016.03.025