A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide

Journal of Clinical Investigation

Volumn 102, Issue 4, 1998, Pages 647-652

  Burda, Patricie ^a   Borsig, Lubor ^b,f   De Rijk Van Andel, Joanneke ^c   Wevers, Ron ^d   Jaeken, Jaak ^e   Carchon, H ^e   Berger, Eric G ^b   Aebi, Markus ^a  

^a ETH ZURICH   (Switzerland)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c Ignatius Hospital   (Netherlands)

^d RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^e UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Dolichol; Endoplasmic reticulum; Glycosylation; Oligosaccharyltransferase

Indexed keywords

MUTASE; PHOSPHOMANNOMUTASE; UNCLASSIFIED DRUG;

ARTICLE; CARBOHYDRATE SYNTHESIS; CLINICAL ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; GENETIC DISORDER; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION;

EID: 0032528886     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI2266     Document Type: Article

References (34)

1. Jacken, J., H. Stibler, and B. Hagberg. 1991. The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement. Acta. Paediatr. Scand. Suppl. 375:1-71.
2. Jaeken, J., H. Carchon, and H. Stibler. 1993. The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders? Glycobiology. 3:423-428.
3. Jaeken, J., G. Matthijs, R. Barone, and H. Carchon. 1997. Carbohydrate deficient glycoprotein (CDG) syndrome type I. J. Med. Genet. 34(1):73-76.
4. Ramaekers, V.T., H. Stibler, J. Kint, and J. Jaeken. 1991. A new variant of the carbohydrate deficient glycoproteins syndrome. J. Inherit. Metab. Dis. 14: 385-388.
5. Jaeken, J., P. De Cock, H. Stibler, C. Van Geet, J. Kint, V. Ramaekers, and H. Carchon. 1993. Carbohydrate-deficient glycoprotein syndrome type II. J. Inherit. Metab. Dis. 16:1041.
6. Jaeken, J., H.G. van Eijk, C. van der Heul, L. Corbeel, R. Eeckels, and E. Eggermont. 1984. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin. Chim. Acta. 144:245-247.
7. Jaeken, J., H. Schachter, H. Carchon, P. De Cock, B. Coddeville, and G. Spik. 1994. Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II. Arch. Dis. Child. 71: 123-127.
8. Tan, J., J. Dunn, J. Jaeken, and H. Schachter. 1996. Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. Am. J. Hum. Genet. 59:810-817.
9. Yamashita, K., H. Ideo, T. Ohkura, K. Fukushima, I. Yuasa, K. Ohno, and K. Takeshita. 1993. Sugar chains of serum transferrin from patients with carbohydrate deficient glycoprotein syndrome: evidence of asparagine-N-linked oligosaccharide transfer deficiency. J. Biol. Chem. 268:5783-5789.
10. Yamashita, K., T. Ohkura, H. Ideo, K. Ohno, and M. Kanai. 1993. Electrospray ionization-mass spectrometric analysis of serum transferrin isoforms in patients with carbohydrate-deficient glycoprotein syndrome. J. Biochem. (Tokyo). 114:766-769.
11. Krasnewich, D.M., G.D. Holt, M. Brantly, F. Skovby, J. Redwine, and W.A. Gahl. 1995. Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome. Glycobiology. 5:503-510.
12. Powell, L.D., K. Paneerselvam, R. Vij, S. Diaz, A. Manzi, N. Buist, H. Freeze, and A. Varki. 1994. Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis? J. Clin. Invest. 94:1901-1909.
13. Panneerselvam, K., and H.H. Freeze. 1996. Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts. J. Clin. Invest. 97:1478-1487.
14. Körner, C., L. Lehle, and K. von Figura. 1998. Abnormal synthesis of mannose 1-phosphate derived carbohydrates in carbohydrate-deficient glycoprotein syndrome type I fibroblasts with phosphomannomutase deficiency. Glycobiology. 8:165-171.
15. Kornfeld, R., and S. Kornfeld. 1985. Assembly of asparagine-linked oligosaccharides. Annu. Rev. Biochem. 54:631-664.
16. Van Schaftingen, E., and J. Jaeken. 1995. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett. 377:318-320.
17. Matthijs, G., E. Schollen, E. Pardon, M. Veiga Da Cunha, J. Jaeken, J.J. Cassiman, and E. Van Schaftingen. 1997. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat. Genet. 16:88-92.
18. Ohkura, T., K. Fukushima, A. Kurisaki, H. Sagami, K. Ogura, K. Ohno, S. Hara Kuge, and K. Yamashita. 1997. A partial deficiency of dehydrodolichol reduction is a cause of carbohydrate-deficient glycoprotein syndrome type I. J. Biol. Chem. 272:6868-6875.
19. Niehues, R., M. Hasilik, G. Alton, C. Körner, M. Schiebe-Sukumar, H.G. Koch, K.-P. Zimmer, R. Wu, E. Harms, K. Reiter, et al. 1998. Carbohydrate-deficient glycoprotein syndrome type Ib: phosphomannose isomerase deficiency and mannose therapy. J. Clin. Invest. 101:1414-1420.
20. Ermonval, M., R. Cacan, K. Gorgas, I.G. Haas, A. Verbert, and G. Buttin. 1997. Differential fate of glycoproteins carrying a monoglucosylated form of truncated N-glycan in a new CHO line, MadIA214, selected for a thermosensitive secretory detect. J. Cell Sci. 110:323-336.
21. Burda, P., and M. Aebi. 1998. The ALG10 locus of Saccharomyces cerevisiae encodes the α-1,2 glucosyltransterase of the endoplasmic reticulum: the terminal glucose of the lipid-linked oligosaccharide is required for efficient N-linked glycosylation. Glycobiology. 8:455-462.
22. Zufferey, R., R. Knauer, P. Burda, I. Stagljar, S. te Heesen, L. Lehle, and M. Aebi. 1995. STT3, a highly conserved protein required for yeast oligosaccharyl transferase activity in vivo. EMBO J 14:4949-4960.
23. Burda, P., S. te Heesen, A. Brachat, A. Wach, A. Düsterhöft, and M. Aebi. 1996. Stepwise assembly of the lipid-linked oligosaccharide in the endoplasmic reticulum of Saccharomyces cerevisiae: identification of the ALG9 gene encoding a putative mannosyl transferase. Proc. Natl. Acad. Sci. USA. 93:7160-7165.
24. Reiss, G., S. te Heesen, J. Zimmerman, P.W. Robbins, and M. Aebi. 1996. Isolation of the ALG6 locus of Saccharomyces cerevisiae required for glucosylation in the N-linked glycosylation pathway. Glycobiology. 6:493-498.
25. Stagljar, I., S. te Heesen, and M. Aebi. 1994. New phenotype of mutations deficient in glucosylation of the lipid-linked oligosaccharide: cloning of the ALG8 locus. Proc. Natl. Acad. Sci. USA. 91:5977-5981.
26. te Heesen, S., L. Lehle, A. Weissmann, and M. Aebi. 1994. Isolation of the ALG5 locus encoding the UDP-glucose: dolichyl-phosphate glucosyltransferase from Saccharomyces cerevisiae. Eur. J. Biochem. 224:71-79.
27. Runge, K.W., T.C. Huffaker, and P.W. Robbins. 1984. Two yeast mutations in glucosylation steps of the asparagine glycosylation pathway. J. Biol. Chem. 259:412-417.
28. Murphy, L.A., and R.G. Spiro. 1981. Transfer of glucose to oligosaccharide-lipid intermediates by thyroid microsomal enzymes and its relationship to the N-glycosylation of proteins. J. Biol. Chem. 256:7487-7494.
29. Stoll, J., R. Cacan, A. Verbert, and S.S. Krag. 1992. Lec15 cells transfer glucosylated oligosaccharides to protein. Arch. Biochem. Biophys. 299:225-231.
30. Aebi, M., J. Gassenhuber, H. Domdey, and S. te Heesen. 1996. Cloning and characterization of the ALG3 gene of Saccharomyces cerevisiae. Glycobiology. 6:439-444.
31. Varki, A. 1993. Biological roles of oligosaccharides - all of the theories are correct. Glycobiology. 3:97-130.
32. Fast, D.G., J.C. Jamieson, and G. McCaffrey. 1993. The role of the carbohydrate chains of Gal beta-1,4-GlcNAc alpha 2,6-sialyltransferase for enzyme activity. Biochim. Biophys. Acta. 1202:325-330.
33. Ferguson, M.A.J. 1992. Glycosyl-phosphatidylinositol membrane anchors: the tale of a tail. Biochem. Soc. Trans. 20:243-256.
34. Hammond, C., and A. Helenius. 1995. Quality control in the secretory pathway. Curr. Opin. Cell Biol. 7:523-529.