Research in Japan Has Contributed to the Understanding of GPI Anchor Deficiency

  • Yoshiko Murakami
  • Taroh Kinoshita


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.


Somatic Mutation Aplastic Anemia Portal Vein Thrombosis Paroxysmal Nocturnal Hemoglobinuria Decay Accelerate Factor 
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Copyright information

© Springer 2008

Authors and Affiliations

  • Yoshiko Murakami
    • 1
  • Taroh Kinoshita
    • 1
  1. 1.Department of Immunoregulation, Research Institute for Microbial DiseasesOsaka UniversitySuita, OsakaJapan

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