COG defects, birth and rise!

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1792, Issue 9, 2009, Pages 896-902

  Foulquier, François ^a,b  

^a UNIVERSITÉ DES SCIENCES ET TECHNOLOGIES DE LILLE   (France)

^b Center for Human Genetics   (Belgium)

Author keywords

CDG; COG; Glycosylation; Golgi; Trafficking

Indexed keywords

BREFELDIN A; CELL PROTEIN; CONSERVED OLIGOMERIC GOLGI PROTEIN; DIVALENT CATION; GLYCOSIDASE; GLYCOSYLTRANSFERASE; MONOSACCHARIDE; NUCLEOTIDE TRANSPORTER; UNCLASSIFIED DRUG;

BIOCHEMISTRY; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2; GENE MUTATION; GLYCOSYLATION; GOLGI COMPLEX; HUMAN; MASS SPECTROMETRY; NONHUMAN; PH; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN STABILITY; PROTEIN STRUCTURE; REVIEW; SIGNAL TRANSDUCTION;

ABNORMALITIES, MULTIPLE; BREFELDIN A; CONGENITAL DISORDERS OF GLYCOSYLATION; GLYCOSYLATION; GOLGI APPARATUS; HUMANS; INFANT; PROTEIN TRANSPORT;

EID: 70349165974     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2008.10.020     Document Type: Review

References (37)

1. Jaeken J. Komrower lecture. Congenital disorders of glycosylation (CDG): it's all in it!. J. Inherit. Metab. Dis. 26 (2003) 99-118
2. Jaeken J., Schachter H., Carchon H., De Cock P., Coddeville B., and Spik G. Carbohydrate-deficient glycoprotein syndrome type II: a deficiency in Golgi localized N-acetyl-glucosaminyltransferase II. Arch. Dis. Child. 71 (1994) 123-127
3. De Praeter C.M., Gerwig G.J., Bause E., 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
4. Lübke T., Marquardt T., Etzioni A., Hartmann E., von Figura K., and Körner 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
5. Hansske B., Thiel C., Lübke T., et al. Deficiency of UDP-galactose:N-acetylglucosamine b-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. J. Clin. Invest. 109 (2002) 725-733
6. Martinez-Duncker I., Dupré 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
7. Abeijon C., Yanagisawa K., Mandon E.C., Häusler A., Moremen K., Hirschberg C.B., and Robbins P.W. Guanosine diphosphatase is required for protein and sphingolipid glycosylation in the Golgi lumen of Saccharomyces cerevisiae. J. Cell Biol. 122 (1993) 307-323
8. Gao X.D., Kaigorodov V., and Jigami Y. YND1, a homologue of GDA1, encodes membrane-bound apyrase required for Golgi N- and O-glycosylation in Saccharomyces cerevisiae. J. Biol. Chem. 274 (1999) 21450-21456
9. Powell J.T., and Brew K. Metal ion activation of galactosyltransferase. J. Biol. Chem. 251 (1976) 3645-3652
10. Mellman I., Fuchs R., and Helenius A. Acidification of the endocytic and exocytic pathways. Annu. Rev. Biochem. 55 (1986) 663-700
11. Kornak U., Reynders E., Dimopoulou A., et al. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat. Genet. 40 (2008) 32-34
12. Krieger M., Brown M.S., and Goldstein J.L. Isolation of Chinese hamster cell mutants defective in the receptor-mediated endocytosis of low density lipoprotein. J. Mol. Biol. 150 (1981) 167-184
13. 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
14. Podos S.D., Reddy P., Ashkenas J., and Krieger M. LDLC encodes a brefeldin A-sensitive, peripheral Golgi protein required for normal Golgi function. J. Cell Biol. 127 (1994) 679-691
15. Chatterton J.E., Hirsch D., Schwartz J.J., Bickel P.E., Rosenberg R.D., Lodish H.F., and Krieger M. Expression cloning of LDLB, a gene essential for normal Golgi function and assembly of the ldlCp complex. Proc. Natl. Acad. Sci. 96 (1999) 915-920
16. Wuestehube L.J., Duden R., Eun A., Hamamoto S., Korn P., Ram R., and Schekman R. New mutants of Saccharomyces cerevisiae affected in the transport of proteins from the endoplasmic reticulum to the Golgi complex. Genetics 142 (1996) 393-406
17. Walter D.M., Paul K.S., and Waters M.G. Purification and characterization of a novel 13 S hetero-oligomeric protein complex that stimulates in vitro Golgi transport. J. Biol. Chem. 273 (1998) 29565-29576
18. Ungar D., Oka T., Brittle E.E., Vasile E., Lupashin V.V., Chatterton J.E., Heuser J.E., Krieger M., and Waters M.G. 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
19. Whyte J.R.C., and Munro S. The Sec34/35 Golgi transport complex is related to the exocyst, defining a family of complexes involved in multiple steps of membrane traffic. Dev. Cell 1 (2001) 527-537
20. Loh E., and Hong W. The binary interacting network of the conserved oligomeric Golgi tethering complex. J. Biol. Chem. 279 (2004) 24640-24648
21. Fotso P., Koryakina Y., Pavliv O., Tsiomenko A., and Lupashin V.V. Cog1p plays a central role in the organization of the yeast conserved oligomeric Golgi complex. J. Biol. Chem. 280 (2005) 27613-27623
22. Ungar D., Oka T., Vasile E., Krieger M., and Hughson F.M. Subunit architecture of the conserved oligomeric Golgi complex. J. Biol. Chem. 280 (2005) 32729-32735
23. Oka T., Vasile E., Penman M., Novina C.D., Dykxhoorn D.M., Ungar D., Hughson F.M., and Krieger M. Genetic analysis of the subunit organization and function of the conserved oligomeric golgi (COG) complex: studies of COG5- and COG7-deficient mammalian cells. J. Biol. Chem. 280 (2005) 32736-32745
24. 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
25. 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
26. Foulquier F., Ungar D., Reynders E., Zeevaert R., Mills P., García-Silva M.T., Briones P., Winchester B., Morelle W., Krieger M., Annaert W., and Matthijs G. 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
27. Kranz C., Ng B.G., Sun L., Sharma V., Eklund E.A., Miura Y., Ungar D., Lupashin V.V., Winkel D.R., Cipollo J., Costello C.E., Loh E., Hong W., and Freeze H.H. COG8 deficiency causes new congenital disorder of glycosylation type IIh. Hum. Mol. Genet. 16 (2007) 731-741
28. Ng B.G., Kranz C., Hagebeuk E., Duran M., Abeling N., Wuyts B., Ungar D., Lupashin V.V., Hartdorff C., Poll-The B., and Freeze H.H. Molecular and clinical characterization of a Moroccan Cog7-deficient patient. Mol. Genet. Metab. 91 (2007) 201-204
29. 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
30. Steet R., and Kornfeld S. COG-7-deficient human fibroblasts exhibit altered recycling of Golgi proteins. Mol. Biol. Cell 17 (2006) 2312-2321
31. Bruinsma P., Spelbrink R.G., and Nothwehr S.F. Retrograde transport of the mannosyltransferase Och1p to the early Golgi requires a component of the COG transport complex. J. Biol. Chem. 279 (2004) 39814-39823
32. Zolov S.N., and Lupashin V.V. Cog3p depletion blocks vesicle-mediated Golgi retrograde trafficking in HeLa cells. J. Cell Biol. 168 (2005) 747-759
33. Vasile E., Oka T., Ericsson M., Nakamura N., and Krieger M. Intragolgi distribution of the conserved oligomeric Golgi (COG) complex. Exp. Cell Res. 312 (2006) 3132-3141
34. Morava E., Zeevaert R., Korsch E., Huijben K.M., Wopereis S., Matthijs G., Keymolen K., Lefeber D., De Meirleir L., and Wevers R.A. A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. Eur. J. Hum. Genet. 15 (2007) 638-645
35. Klausner R.D., Donaldson J.G., and Lippincott-Schwartz J. Brefeldin A: insights into the control of membrane traffic and organelle structure. J. Cell Biol. 116 (1992) 1071-1080
36. Zeevaert R., Foulquier F., Jaeken J., and Matthijs G. Deficiencies in subunits of the conserved oligomeric Golgi (COG) complex define a novel group of congenital disorders of glycosylation. Mol. Genet. Metab. 93 (2008) 261-278
37. Wopereis S., Grünewald S., Morava E., Penzien J.M., Briones P., García-Silva M.T., Demacker P.N., Huijben K.M., and Wevers R.A. Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. Clin. Chem. 49 (2003) 1839-1845