Abstract
Glycosylphosphatidylinositol (GPI) anchors more than 200 surface proteins to the plasma membrane. Therefore, GPI deficiency causes severe effects. Twenty-six genes involved in GPI biosynthesis have been cloned and among them PIGA carries the first step. The finding, that a Piga knockout mouse is lethal, indicates that GPI is essential for ontogenesis. Even the tissue-specific knockout of the Piga gene causes severe defects, e.g., a keratinocyte-specific knockout causes death soon after birth and an oocyte-specific knockout causes infertility. These lines of evidence suggest that only partial GPI deficiency causes disease. Among 26 GPI biosynthesis genes, 4 genes, DPM1, DPM2, DPM3 and SL15 (MPDU1), are also involved in biosynthesis of N-glycan. A defect in these genes causes congenital deficiencies of glycosylation (CDG). Deficiencies of DPM1 and SL15 (MPDU1) have been reported and called CDG-Ie and CDG-If, respectively. Both of these deficiencies are partial and the symptoms of these patients seem to be mainly caused by defective N-glycosylation.
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Murakami, Y., Kinoshita, T. (2008). Research in Japan Has Contributed to the Understanding of GPI Anchor Deficiency. In: Taniguchi, N., Suzuki, A., Ito, Y., Narimatsu, H., Kawasaki, T., Hase, S. (eds) Experimental Glycoscience. Springer, Tokyo. https://doi.org/10.1007/978-4-431-77922-3_76
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DOI: https://doi.org/10.1007/978-4-431-77922-3_76
Publisher Name: Springer, Tokyo
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