Golgi linked protein glycosylation and associated diseases

Seminars in Cell and Developmental Biology

Volumn 20, Issue 7, 2009, Pages 762-769

  Ungar, Daniel ^a  

^a UNIVERSITY OF YORK   (United Kingdom)

Author keywords

CDG; Glycan function; Glycosylation disorders; Golgi; Protein sorting

Indexed keywords

GLYCAN;

CARBOHYDRATE SYNTHESIS; CONGENITAL DISORDER OF GLYCOSYLATION; GOLGI COMPLEX; HUMAN; MUSCULAR DYSTROPHY; NONHUMAN; PROTEIN GLYCOSYLATION; PROTEIN TARGETING; REVIEW;

EID: 70349323001     PISSN: 10849521     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.semcdb.2009.03.004     Document Type: Review

References (87)

1. Freeze H.H. Congenital disorders of glycosylation: CDG-I, CDG-II, and beyond. Curr Mol Med 7 (2007) 389-396
2. Dube D.H., and Bertozzi C.R. Glycans in cancer and inflammation-potential for therapeutics and diagnostics. Nat Rev Drug Discov 4 (2005) 477-488
3. Kornfeld R., and Kornfeld S. Assembly of asparagine-linked oligosaccharides. Annu Rev Biochem 54 (1985) 631-664
4. Schachter H., and Williams D. Biosynthesis of mucus glycoproteins. Adv Exp Med Biol 144 (1982) 3-28
5. Fukuda M. Leukosialin, a major O-glycan-containing sialoglycoprotein defining leukocyte differentiation and malignancy. Glycobiology 1 (1991) 347-356
6. Esko J.D., and Selleck S.B. Order out of chaos: assembly of ligand binding sites in heparan sulfate. Annu Rev Biochem 71 (2002) 435-471
7. Chiba A., Matsumura K., Yamada H., Inazu T., Shimizu T., Kusunoki S., et al. Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve alpha-dystroglycan. The role of a novel O-mannosyl-type oligosaccharide in the binding of alpha-dystroglycan with laminin. J Biol Chem 272 (1997) 2156-2162
8. Chai W., Yuen C.T., Kogelberg H., Carruthers R.A., Margolis R.U., Feizi T., et al. High prevalence of 2-mono- and 2,6-di-substituted manol-terminating sequences among O-glycans released from brain glycopeptides by reductive alkaline hydrolysis. Eur J Biochem 263 (1999) 879-888
9. Takahashi S., Sasaki T., Manya H., Chiba Y., Yoshida A., Mizuno M., et al. A new beta-1,2-N-acetylglucosaminyltransferase that may play a role in the biosynthesis of mammalian O-mannosyl glycans. Glycobiology 11 (2001) 37-45
10. Spooncer E., Fukuda M., Klock J.C., Oates J.E., and Dell A. Isolation and characterization of polyfucosylated lactosaminoglycan from human granulocytes. J Biol Chem 259 (1984) 4792-4801
11. Dunphy W.G., Fries E., Urbani L.J., and Rothman J.E. Early and late functions associated with the Golgi apparatus reside in distinct compartments. Proc Natl Acad Sci U S A 78 (1981) 7453-7457
12. Hossler P., Mulukutla B.C., and Hu W.S. Systems analysis of N-glycan processing in mammalian cells. PLoS ONE 2 (2007) e713
13. Pelham H.R., and Rothman J.E. The debate about transport in the Golgi-two sides of the same coin?. Cell 102 (2000) 713-719
14. Losev E., Reinke C.A., Jellen J., Strongin D.E., Bevis B.J., and Glick B.S. Golgi maturation visualized in living yeast. Nature 441 (2006) 1002-1006
15. Matsuura-Tokita K., Takeuchi M., Ichihara A., Mikuriya K., and Nakano A. Live imaging of yeast Golgi cisternal maturation. Nature 441 (2006) 1007-1010
16. Patterson G.H., Hirschberg K., Polishchuk R.S., Gerlich D., Phair R.D., and Lippincott-Schwartz J. Transport through the Golgi apparatus by rapid partitioning within a two-phase membrane system. Cell 133 (2008) 1055-1067
17. Glick B.S., Elston T., and Oster G. A cisternal maturation mechanism can explain the asymmetry of the Golgi stack. FEBS Lett 414 (1997) 177-181
18. Miles S., McManus H., Forsten K.E., and Storrie B. Evidence that the entire Golgi apparatus cycles in interphase HeLa cells: sensitivity of Golgi matrix proteins to an ER exit block. J Cell Biol 155 (2001) 543-555
19. Malsam J., Satoh A., Pelletier L., and Warren G. Golgin tethers define subpopulations of COPI vesicles. Science 307 (2005) 1095-1098
20. Berger E.G., Grimm K., Bachi T., Bosshart H., Kleene R., and Watzele M. Double immunofluorescent staining of alpha 2,6 sialyltransferase and beta 1,4 galactosyltransferase in monensin-treated cells: evidence for different Golgi compartments?. J Cell Biochem 52 (1993) 275-288
21. Schaub B.E., Berger B., Berger E.G., and Rohrer J. Transition of galactosyltransferase 1 from trans-Golgi cisterna to the trans-Golgi network is signal mediated. Mol Biol Cell 17 (2006) 5153-5162
22. Shen X., Hong M.S., Moss J., and Vaughan M. BIG1, a brefeldin A-inhibited guanine nucleotide-exchange protein, is required for correct glycosylation and function of integrin beta1. Proc Natl Acad Sci U S A 104 (2007) 1230-1235
23. Tu L., Tai W.C., Chen L., and Banfield D.K. Signal-mediated dynamic retention of glycosyltransferases in the Golgi. Science 321 (2008) 404-407
24. Schmitz K.R., Liu J., Li S., Setty T.G., Wood C.S., Burd C.G., et al. Golgi localization of glycosyltransferases requires a Vps74p oligomer. Dev Cell 14 (2008) 523-534
25. Teo H., Perisic O., Gonzalez B., and Williams R.L. ESCRT-II, an endosome-associated complex required for protein sorting: crystal structure and interactions with ESCRT-III and membranes. Dev Cell 7 (2004) 559-569
26. Waters M.G., and Hughson F.M. Membrane tethering and fusion in the secretory and endocytic pathways. Traffic 1 (2000) 588-597
27. Ungar D., Oka T., Brittle E.E., Vasile E., Lupashin V.V., Chatterton J.E., et al. Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. J Cell Biol 157 (2002) 405-415
28. Nakamura N., Lowe M., Levine T.P., Rabouille C., and Warren G. The vesicle docking protein p115 binds GM130, a cis-Golgi matrix protein, in a mitotically regulated manner. Cell 89 (1997) 445-455
29. Sinka R., Gillingham A.K., Kondylis V., and Munro S. Golgi coiled-coil proteins contain multiple binding sites for Rab family G proteins. J Cell Biol 183 (2008) 607-615
30. Shestakova A., Zolov S., and Lupashin V. COG complex-mediated recycling of golgi glycosyltransferases is essential for normal protein glycosylation. Traffic 7 (2006) 191-204
31. Gibson R., Kornfeld S., and Schlesinger S. A role for oligosaccharides in glycoprotein biosynthesis. Trends Biochem Sci 5 (1980) 290-293
32. Urban J., Parczyk K., Leutz A., Kayne M., and Kondor-Koch C. Constitutive apical secretion of an 80-kD sulfated glycoprotein complex in the polarized epithelial Madin-Darby canine kidney cell line. J Cell Biol 105 (1987) 2735-2743
33. Kaplan A., Achord D.T., and Sly W.S. Phosphohexosyl components of a lysosomal enzyme are recognized by pinocytosis receptors on human fibroblasts. Proc Natl Acad Sci U S A 74 (1977) 2026-2030
34. Kornfeld S. Trafficking of lysosomal enzymes in normal and disease states. J Clin Invest 77 (1986) 1-6
35. Lowe J.B., Stoolman L.M., Nair R.P., Larsen R.D., Berhend T.L., and Marks R.M. ELAM-1-dependent cell adhesion to vascular endothelium determined by a transfected human fucosyltransferase cDNA. Cell 63 (1990) 475-484
36. Walz G., Aruffo A., Kolanus W., Bevilacqua M., and Seed B. Recognition by ELAM-1 of the sialyl-Lex determinant on myeloid and tumor cells. Science 250 (1990) 1132-1135
37. Phillips M.L., Nudelman E., Gaeta F.C., Perez M., Singhal A.K., Hakomori S., et al. ELAM-1 mediates cell adhesion by recognition of a carbohydrate ligand, sialyl-Lex. Science 250 (1990) 1130-1132
38. Stoolman L.M., and Rosen S.D. Possible role for cell-surface carbohydrate-binding molecules in lymphocyte recirculation. J Cell Biol 96 (1983) 722-729
39. Landmesser L., Dahm L., Tang J.C., and Rutishauser U. Polysialic acid as a regulator of intramuscular nerve branching during embryonic development. Neuron 4 (1990) 655-667
40. Acheson A., Sunshine J.L., and Rutishauser U. NCAM polysialic acid can regulate both cell-cell and cell-substrate interactions. J Cell Biol 114 (1991) 143-153
41. Mitoma J., Bao X., Petryanik B., Schaerli P., Gauguet J.M., Yu S.Y., et al. Critical functions of N-glycans in L-selectin-mediated lymphocyte homing and recruitment. Nat Immunol 8 (2007) 409-418
42. Lau K.S., Partridge E.A., Grigorian A., Silvescu C.I., Reinhold V.N., Demetriou M., et al. Complex N-glycan number and degree of branching cooperate to regulate cell proliferation and differentiation. Cell 129 (2007) 123-134
43. Gee S.H., Blacher R.W., Douville P.J., Provost P.R., Yurchenco P.D., and Carbonetto S. Laminin-binding protein 120 from brain is closely related to the dystrophin-associated glycoprotein, dystroglycan, and binds with high affinity to the major heparin binding domain of laminin. J Biol Chem 268 (1993) 14972-14980
44. Ohtsubo K., Takamatsu S., Minowa M.T., Yoshida A., Takeuchi M., and Marth J.D. Dietary and genetic control of glucose transporter 2 glycosylation promotes insulin secretion in suppressing diabetes. Cell 123 (2005) 1307-1321
45. Jaeken J., Vanderschueren-Lodeweyckx M., Casaer P., Snoeck L., Corbeel L., Eggermont E., et al. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?. Pediatr Res 14 (1980) 179
46. Grunewald S., Matthijs G., and Jaeken J. Congenital disorders of glycosylation: a review. Pediatr Res 52 (2002) 618-624
47. Strecker G., Peers M.C., Michalski J.C., Hondi-Assah T., Fournet B., Spik G., et al. Structure of nine sialyl-oligosaccharides accumulated in urine of eleven patients with three different types of sialidosis. Mucolipidosis II and two new types of mucolipidosis. Eur J Biochem 75 (1977) 391-403
48. Chui D., Oh-Eda M., Liao Y.F., Panneerselvam K., Lal A., Marek K.W., et al. Alpha-mannosidase-II deficiency results in dyserythropoiesis and unveils an alternate pathway in oligosaccharide biosynthesis. Cell 90 (1997) 157-167
49. Aebi M., Helenius A., Schenk B., Barone R., Fiumara A., Berger E.G., et al. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. Glycoconj J 16 (1999) 669-671
50. Stibler H., and Jaeken J. Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome. Arch Dis Child 65 (1990) 107-111
51. Matthijs G., Schollen E., Pardon E., Veiga-Da-Cunha M., Jaeken J., Cassiman J.J., et al. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet 16 (1997) 88-92
52. Niehues R., Hasilik M., Alton G., Korner C., Schiebe-Sukumar M., Koch H.G., et al. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. J Clin Invest 101 (1998) 1414-1420
53. Hansske B., Thiel C., Lubke T., Hasilik M., Honing S., Peters V., et al. Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. J Clin Invest 109 (2002) 725-733
54. Tan J., Dunn J., Jaeken J., and Schachter H. 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 (1996) 810-817
55. De Praeter C.M., Gerwig G.J., Bause E., Nuytinck L.K., Vliegenthart J.F., Breuer W., et al. A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency. Am J Hum Genet 66 (2000) 1744-1756
56. Lubke T., Marquardt T., Etzioni A., Hartmann E., von Figura K., and Korner C. Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. Nat Genet 28 (2001) 73-76
57. Martinez-Duncker I., Dupre T., Piller V., Piller F., Candelier J.J., Trichet C., et al. 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
58. Foulquier F., Ungar D., Reynders E., Zeevaert R., Mills P., Garcia-Silva M.T., et al. A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation. Hum Mol Genet 16 (2007) 717-730
59. Foulquier F., Vasile E., Schollen E., Callewaert N., Raemaekers T., Quelhas D., et al. 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
60. Kranz C., Ng B.G., Sun L., Sharma V., Eklund E.A., Miura Y., et al. COG8 deficiency causes new congenital disorder of glycosylation type IIh. Hum Mol Genet 16 (2007) 731-741
61. Wu X., Steet R.A., Bohorov O., Bakker J., Newell J., Krieger M., et al. Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat Med 10 (2004) 518-523
62. Reynders E, Foulquier F, Teles EL, Quelhas D, Morelle W, Rabouille C, et al. Golgi function and dysfunction in COG-deficient CDG type II patients, submitted for publication.
63. Kornak U., Reynders E., Dimopoulou A., van Reeuwijk J., Fischer B., Rajab A., et al. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet 40 (2008) 32-34
64. Hellbusch C.C., Sperandio M., Frommhold D., Yakubenia S., Wild M.K., Popovici D., et al. Golgi GDP-fucose transporter-deficient mice mimic congenital disorder of glycosylation IIc/leukocyte adhesion deficiency II. J Biol Chem 282 (2007) 10762-10772
65. Ye Z., and Marth J.D. N-glycan branching requirement in neuronal and postnatal viability. Glycobiology 14 (2004) 547-558
66. Metzler M., Gertz A., Sarkar M., Schachter H., Schrader J.W., and Marth J.D. Complex asparagine-linked oligosaccharides are required for morphogenic events during post-implantation development. EMBO J 13 (1994) 2056-2065
67. Ioffe E., and Stanley P. Mice lacking N-acetylglucosaminyltransferase I activity die at mid-gestation, revealing an essential role for complex or hybrid N-linked carbohydrates. Proc Natl Acad Sci U S A 91 (1994) 728-732
68. Kingsley D.M., Kozarsky K.F., Segal M., and Krieger M. Three types of low density lipoprotein receptor-deficient mutant have pleiotropic defects in the synthesis of N-linked, O-linked, and lipid-linked carbohydrate chains. J Cell Biol 102 (1986) 1576-1585
69. Ungar D., Oka T., Krieger M., and Hughson F.M. Retrograde transport on the COG railway. Trends Cell Biol 16 (2006) 113-120
70. Richardson BC, Smith RD, Ungar D, Nakamura A, Jeffrey PD, Lupashin VV, et al. Structural basis for a human glycosylation disorder caused, in part, by mutation of the COG4 gene, submitted for publication.
71. Miesenbock G., De Angelis D.A., and Rothman J.E. Visualizing secretion and synaptic transmission with pH-sensitive green fluorescent proteins. Nature 394 (1998) 192-195
72. Moore S.A., Saito F., Chen J., Michele D.E., Henry M.D., Messing A., et al. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature 418 (2002) 422-425
73. Yoshida A., Kobayashi K., Manya H., Taniguchi K., Kano H., Mizuno M., et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell 1 (2001) 717-724
74. Longman C., Brockington M., Torelli S., Jimenez-Mallebrera C., Kennedy C., Khalil N., et al. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet 12 (2003) 2853-2861
75. Kobayashi K., Nakahori Y., Miyake M., Matsumura K., Kondo-Iida E., Nomura Y., et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394 (1998) 388-392
76. Xiong H., Kobayashi K., Tachikawa M., Manya H., Takeda S., Chiyonobu T., et al. Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan. Biochem Biophys Res Commun 350 (2006) 935-941
77. Van Beek W.P., Smets L.A., and Emmelot P. Changed surface glycoprotein as a marker of malignancy in human leukaemic cells. Nature 253 (1975) 457-460
78. Le Marer N., and Stehelin D. High alpha-2,6-sialylation of N-acetyllactosamine sequences in ras-transformed rat fibroblasts correlates with high invasive potential. Glycobiology 5 (1995) 219-226
79. Demetriou M., Nabi I.R., Coppolino M., Dedhar S., and Dennis J.W. Reduced contact-inhibition and substratum adhesion in epithelial cells expressing GlcNAc-transferase V. J Cell Biol 130 (1995) 383-392
80. Pochec E., Litynska A., Amoresano A., and Casbarra A. Glycosylation profile of integrin alpha 3 beta 1 changes with melanoma progression. Biochim Biophys Acta 1643 (2003) 113-123
81. Yoshimura M., Nishikawa A., Ihara Y., Taniguchi S., and Taniguchi N. Suppression of lung metastasis of B16 mouse melanoma by N-acetylglucosaminyltransferase III gene transfection. Proc Natl Acad Sci U S A 92 (1995) 8754-8758
82. Zhao Y., Nakagawa T., Itoh S., Inamori K., Isaji T., Kariya Y., et al. N-acetylglucosaminyltransferase III antagonizes the effect of N-acetylglucosaminyltransferase V on alpha3beta1 integrin-mediated cell migration. J Biol Chem 281 (2006) 32122-32130
83. Dische Z., Di Sant'Agnese P., Pallavicini C., and Youlos J. Composition of mucoprotein fractions from duodenal fluid of patients with cystic fibrosis of the pancreas and from controls. Pediatrics 24 (1959) 74-91
84. Mitchell E., Houles C., Sudakevitz D., Wimmerova M., Gautier C., Perez S., et al. Structural basis for oligosaccharide-mediated adhesion of Pseudomonas aeruginosa in the lungs of cystic fibrosis patients. Nat Struct Biol 9 (2002) 918-921
85. Schulz B.L., Sloane A.J., Robinson L.J., Prasad S.S., Lindner R.A., Robinson M., et al. Glycosylation of sputum mucins is altered in cystic fibrosis patients. Glycobiology 17 (2007) 698-712
86. Coddeville B., Carchon H., Jaeken J., Briand G., and Spik G. Determination of glycan structures and molecular masses of the glycovariants of serum transferrin from a patient with carbohydrate deficient syndrome type II. Glycoconj J 15 (1998) 265-273
87. Ceroni A., Dell A., and Haslam S.M. The GlycanBuilder: a fast, intuitive and flexible software tool for building and displaying glycan structures. Source Code Biol Med 2 (2007) 3