... middle of paper ...
...e in vertebrates. Glycoproteins in the cell wall of yeasts and fungi are known to bear phosphodiester-linked glycans that are generated by a process involving phosphorylation on the C6 position of mannose (28). It is interesting that -DG, which is well conserved as an epithelial cell-surface protein from mammals to lower vertebrates, is likewise modified by this ancient type of cell surface glycosylation. A recent study has shown that the most severe form of CMD—WWS—is a genetically heterogeneous disease. Moreover, only 40% of WWS cases are explained by mutations in known CMD-causative genes (POMT1, POMT2, POMGNT1, FCMD, FKRP and LARGE) (28). It is quite likely that a defect in the phosphorylation of O-linked mannose results in severe CMD, and thus our findings provide a new target to be used for the discovery of mutations in novel genes responsible for WWS.
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