From glycosylation disorders back to glycosylation: What have we learned?

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1792, Issue 9, 2009, Pages 921-924

  Hennet, Thierry ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

CMP sialic acid; COG complex; Dystroglycan; Glucosyltransferase; Mucin O glycosylation; Oligosaccharyltransferase

Indexed keywords

CYTIDINE PHOSPHATE; DYSTROGLYCAN; GLUCOSYLTRANSFERASE; GLYCOSYLTRANSFERASE; LIPOOLIGOSACCHARIDE; MUCIN; OLIGOSACCHARYLTRANSFERASE; SIALIC ACID; TRANSFERASE; UNCLASSIFIED DRUG;

BIOSYNTHESIS; CONGENITAL DISORDER OF GLYCOSYLATION; ENZYME ACTIVITY; ENZYME LOCALIZATION; GENE MUTATION; GENETIC ASSOCIATION; GOLGI COMPLEX; HEREDITARY INCLUSION BODY MYOPATHY; HUMAN; MUSCULAR DYSTROPHY; MYOPATHY; NONHUMAN; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; REVIEW; RISK FACTOR;

CARBOHYDRATE METABOLISM, INBORN ERRORS; CONGENITAL DISORDERS OF GLYCOSYLATION; CYTIDINE MONOPHOSPHATE N-ACETYLNEURAMINIC ACID; GLYCOSYLATION; HEMOGLOBINURIA, PAROXYSMAL; HEXOSYLTRANSFERASES; HUMANS; LIPID METABOLISM, INBORN ERRORS; LIPOPOLYSACCHARIDES; MEMBRANE PROTEINS;

EID: 70249147686     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2008.10.006     Document Type: Review

References (38)

1. Berger E.G. Tn-syndrome. Biochim. Biophys. Acta 1455 (1999) 255-268
2. Luzzatto L., Bessler M., and Rotoli B. Somatic mutations in paroxysmal nocturnal hemoglobinuria: a blessing in disguise?. Cell 88 (1997) 1-4
3. Finne J., Krusius T., Margolis R.K., and Margolis R.U. Novel mannitol-containing oligosaccharides obtained by mild alkaline borohydride treatment of a chondroitin sulfate proteoglycan from brain. J. Biol. Chem. 254 (1979) 10295-10300
4. Yoshida A., Kobayashi K., Manya H., Taniguchi K., Kano H., Mizuno M., Inazu T., Mitsuhashi H., Takahashi S., Takeuchi M., Herrmann R., Straub V., Talim B., Voit T., Topaloglu H., Toda T., and Endo T. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev. Cell 1 (2001) 717-724
5. Brockington M., Blake D.J., Prandini P., Brown S.C., Torelli S., Benson M.A., Ponting C.P., Estournet B., Romero N.B., Mercuri E., Voit T., Sewry C.A., Guicheney P., and Muntoni F. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am. J. Hum. Genet. 69 (2001) 1198-1209
6. Beltran-Valero de Bernabe D., Currier S., Steinbrecher A., Celli J., van Beusekom E., van der Zwaag B., Kayserili H., Merlini L., Chitayat D., Dobyns W.B., Cormand B., Lehesjoki A.E., Cruces J., Voit T., Walsh C.A., van Bokhoven H., and Brunner H.G. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am. J. Hum. Genet. 71 (2002) 1033-1043
7. van Reeuwijk J., Janssen M., van den Elzen C., Beltran-Valero de Bernabe D., Sabatelli P., Merlini L., Boon M., Scheffer H., Brockington M., Muntoni F., Huynen M., Verrips A., Walsh C., Barth P., Brunner H., and van Bokhoven H. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker Warburg syndrome. J. Med. Genet. 42 (2005) 907-912
8. Longman C., Brockington M., Torelli S., Jimenez-Mallebrera C., Kennedy C., Khalil N., Feng L., Saran R.K., Voit T., Merlini L., Sewry C.A., Brown S.C., and Muntoni F. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan. Hum. Mol. Genet. 12 (2003) 2853-2861
9. Kobayashi K., Nakahori Y., Miyake M., Matsumura K., Kondo-Iida E., Nomura Y., Segawa M., Yoshioka M., Saito K., Osawa M., Hamano K., Sakakihara Y., Nonaka I., Nakagome Y., Kanazawa I., Nakamura Y., Tokunaga K., and Toda T. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394 (1998) 388-392
10. Patnaik S.K., and Stanley P. Mouse large can modify complex N- and mucin O-glycans on alpha-dystroglycan to induce laminin binding. J. Biol. Chem. 280 (2005) 20851-20859
11. Kitagawa H., Uyama T., and Sugahara K. Molecular cloning and expression of a human chondroitin synthase. J. Biol. Chem. 276 (2001) 38721-38726
12. Senay C., Lind T., Muguruma K., Tone Y., Kitagawa H., Sugahara K., Lidholt K., Lindahl U., and Kusche-Gullberg M. The EXT1/EXT2 tumor suppressors: catalytic activities and role in heparan sulfate biosynthesis. EMBO Rep. 1 (2000) 282-286
13. Tone Y., Pedersen L.C., Yamamoto T., Izumikawa T., Kitagawa H., Nishihara J., Tamura J., Negishi M., and Sugahara K. 2-o-phosphorylation of xylose and 6-o-sulfation of galactose in the protein linkage region of glycosaminoglycans influence the glucuronyltransferase-I activity involved in the linkage region synthesis. J. Biol. Chem. 283 (2008) 16801-16807
14. Ten Hagen K.G., Fritz T.A., and Tabak L.A. All in the family: the UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases. Glycobiology 13 (2003) 1R-16R
15. Topaz O., Shurman D.L., Bergman R., Indelman M., Ratajczak P., Mizrachi M., Khamaysi Z., Behar D., Petronius D., Friedman V., Zelikovic I., Raimer S., Metzker A., Richard G., and Sprecher E. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat. Genet. 36 (2004) 579-581
16. Benet-Pages A., Orlik P., Strom T.M., and Lorenz-Depiereux B. An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum. Mol. Genet. 14 (2005) 385-390
17. Razzaque M.S., and Lanske B. The emerging role of the fibroblast growth factor-23-klotho axis in renal regulation of phosphate homeostasis. J. Endocrinol. 194 (2007) 1-10
18. Kato K., Jeanneau C., Tarp M.A., Benet-Pages A., Lorenz-Depiereux B., Bennett E.P., Mandel U., Strom T.M., and Clausen H. Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. J. Biol. Chem. 281 (2006) 18370-18377
19. Leuenberger B., Hahn D., Pischitzis A., Hansen M.K., and Sterchi E.E. Human meprin beta: O-linked glycans in the intervening region of the type I membrane protein protect the C-terminal region from proteolytic cleavage and diminish its secretion. Biochem. J. 369 (2003) 659-665
20. Kingsley D.M., Kozarsky K.F., Hobbie L., and Krieger M. Reversible defects in O-linked glycosylation and LDL receptor expression in a UDP-Gal/UDP-GalNAc 4-epimerase deficient mutant. Cell 44 (1986) 749-759
21. Molinari F., Foulquier F., Tarpey P.S., Morelle W., Boissel S., Teague J., Edkins S., Futreal P.A., Stratton M.R., Turner G., Matthijs G., Gecz J., Munnich A., and Colleaux L. Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am. J. Hum. Genet. 82 (2008) 1150-1157
22. Garshasbi M., Hadavi V., Habibi H., Kahrizi K., Kariminejad R., Behjati F., Tzschach A., Najmabadi H., Ropers H.H., and Kuss A.W. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am. J. Hum. Genet. 82 (2008) 1158-1164
23. Schwarz M., Knauer R., and Lehle L. Yeast oligosaccharyltransferase consists of two functionally distinct sub-complexes, specified by either the Ost3p or Ost6p subunit. FEBS Lett. 579 (2005) 6564-6568
24. Knauer R., and Lehle L. The oligosaccharyltransferase complex from Saccharomyces cerevisiae. Isolation of the OST6 gene, its synthetic interaction with OST3, and analysis of the native complex. J. Biol. Chem. 274 (1999) 17249-17256
25. Imbach T., Burda P., Kuhnert P., Wevers R.A., Aebi M., Berger E.G., and Hennet T. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. Proc. Natl. Acad. Sci. U. S. A. 96 (1999) 6982-6987
26. Grünewald S., Imbach T., Huijben K., Rubio-Gozalbo M.E., Verrips A., Wendel U., de Klerk J.B.C., Stroink H., de Rijk-van Andel J.F., van Hove J.L.K., Matthijs G., Hennet T., Jaeken J., and Wevers R.A. Clinical and biochemical characteristics of congenital disorder of glycosylation (CDG) type Ic: the first recognized ER defect in N-glycan synthesis. Ann. Neurol. 47 (2000) 776-781
27. Schollen E., Keldermanns L., Reyntjens R., Frank C.G., Grubenmann C.E., Clayton P.T., Winchester B.G., Smeitink J.A.M., Wevers R.A., Aebi M., Hennet T., and Matthijs G. Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). J. Med. Genet. 41 (2004) 550-556
28. 2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation. J. Biol. Chem. 278 (2003) 9962-9971
29. Parodi A.J. Protein glucosylation and its role in protein folding. Annu. Rev. Biochem. 69 (2000) 69-93
30. Wu X., Steet R.A., Bohorov O., Bakker J., Newell J., Krieger M., Spaapen L., Kornfeld S., and Freeze H.H. Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat. Med. 10 (2004) 518-523
31. Foulquier F., Vasile E., Schollen E., Callewaert N., Raemaekers T., Quelhas D., Jaeken J., Mills P., Winchester B., Krieger M., Annaert W., and Matthijs G. Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. Proc. Natl. Acad. Sci. U. S. A. 103 (2006) 3764-3769
32. Keppler O.T., Hinderlich S., Langner J., Schwartz-Albiez R., Reutter W., and Pawlita M. UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation. Science 284 (1999) 1372-1376
33. Eisenberg I., Avidan N., Potikha T., Hochner H., Chen M., Olender T., Barash M., Shemesh M., Sadeh M., Grabov-Nardini G., Shmilevich I., Friedmann A., Karpati G., Bradley W.G., Baumbach L., Lancet D., Asher E.B., Beckmann J.S., Argov Z., and Mitrani-Rosenbaum S. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat. Genet. 29 (2001) 83-87
34. Schwarzkopf M., Knobeloch K.P., Rohde E., Hinderlich S., Wiechens N., Lucka L., Horak I., Reutter W., and Horstkorte R. Sialylation is essential for early development in mice. Proc. Natl. Acad. Sci. U. S. A. 99 (2002) 5267-5270
35. Galeano B., Klootwijk R., Manoli I., Sun M., Ciccone C., Darvish D., Starost M.F., Zerfas P.M., Hoffmann V.J., Hoogstraten-Miller S., Krasnewich D.M., Gahl W.A., and Huizing M. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J. Clin. Invest. 117 (2007) 1585-1594
36. Martinez-Duncker I., Dupre T., Piller V., Piller F., Candelier J.J., Trichet C., Tchernia G., Oriol R., and Mollicone R. Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter. Blood 105 (2005) 2671-2676
37. Lee S.U., Grigorian A., Pawling J., Chen I.J., Gao G., Mozaffar T., McKerlie C., and Demetriou M. N-glycan processing deficiency promotes spontaneous inflammatory demyelination and neurodegeneration. J. Biol. Chem. 282 (2007) 33725-33734
38. Grigorian A., Lee S.U., Tian W., Chen I.J., Gao G., Mendelsohn R., Dennis J.W., and Demetriou M. Control of T cell-mediated autoimmunity by metabolite flux to N-glycan biosynthesis. J. Biol. Chem. 282 (2007) 20027-20035