From glycosylation disorders to dolichol biosynthesis defects: A new class of metabolic diseases

Journal of Inherited Metabolic Disease

Volumn 34, Issue 4, 2011, Pages 859-867

  Cantagrel, Vincent ^a   Lefeber, Dirk J ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DOLICHOL; DOLICHOL KINASE; DOLICHOL PHOSPHATE; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG;

AGING; ALCOHOL METABOLISM; ALCOHOL REDUCTION REACTION; ALZHEIMER DISEASE; BIOACCUMULATION; BIOSYNTHESIS; BRAIN ATROPHY; BRAIN TISSUE; CATALYSIS; CELL FUNCTION; CELL NUCLEUS; CELLULAR DISTRIBUTION; CHEMICAL MODIFICATION; CHEMICAL REACTION; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CONGESTIVE CARDIOMYOPATHY; DOLK GENE; DPM1 GENE; DPM2 GENE; DPM3 GENE; ELONGATION REACTION; ENDOPLASMIC RETICULUM; GLYCOSYLATION; HUMAN; ICHTHYOSIS; LIPOFUSCINOSIS; LIVER CARCINOGENESIS; MARKER GENE; MEMBRANE TRANSPORT; METABOLITE; MISSENSE MUTATION; MITOCHONDRIAL MEMBRANE; MUSCLE HYPOTONIA; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; OPTIC NERVE ATROPHY; PEROXISOME; PHENOTYPE; PHOSPHORYLATION AND DEPHOSPHORYLATION; PROTEIN PROCESSING; PSYCHOMOTOR RETARDATION; REVIEW; SEIZURE; SRD5A3 GENE; STRUCTURE ANALYSIS; TISSUE DISTRIBUTION; TRANSPORT VESICLE; VISUAL IMPAIRMENT;

ANIMALS; CONGENITAL DISORDERS OF GLYCOSYLATION; DOLICHOL; GLYCOSYLATION; HUMANS; METABOLIC DISEASES; MODELS, BIOLOGICAL; PROTEIN PROCESSING, POST-TRANSLATIONAL;

EID: 79961169497     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9301-0     Document Type: Review

References (63)

1. A Acosta-Serrano J O'Rear, et al. 2004 Defects in the N-linked oligosaccharide biosynthetic pathway in a Trypanosoma brucei glycosylation mutant Eukaryot Cell 3 2 255 263 15075256 10.1128/EC.3.2.255-263.2004 1:CAS:528:DC%2BD2cXjtlKru74%3D (Pubitemid 38497965)
2. NH Behrens LF Leloir 1970 Dolichol monophosphate glucose: an intermediate in glucose transfer in liver Proc Natl Acad Sci USA 66 1 153 159 5273893 10.1073/pnas.66.1.153 1:CAS:528:DyaE3cXksFeltrk%3D
3. N Belgareh-Touze M Corral-Debrinski, et al. 2003 Yeast functional analysis: identification of two essential genes involved in ER to Golgi trafficking Traffic 4 9 607 617 12911815 10.1034/j.1600-0854.2003.00116.x 1:CAS:528:DC%2BD3sXntFeis74%3D (Pubitemid 37062684)
4. V Cantagrel DJ Lefeber, et al. 2010 SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder Cell 142 2 203 217 20637498 10.1016/j.cell.2010.06.001 1:CAS:528: DC%2BC3cXpsVaiu70%3D
5. Carson DD, Earles BJ, et al. (1981) Enhancement of protein glycosylation in tissue slices by dolichylphosphate. J Biol Chem 256(22):11552-11557
6. T Chojnacki G Dallner 1983 The uptake of dietary polyprenols and their modification to active dolichols by the rat liver J Biol Chem 258 2 916 922 6401722 1:CAS:528:DyaL3sXovVWjtg%3D%3D (Pubitemid 13139339)
7. T Chojnacki G Dallner 1988 The biological role of dolichol Biochem J 251 1 1 9 3291859 1:CAS:528:DyaL1cXhs1Gisrs%3D
8. J Denecke C Kranz 2009 Hypoglycosylation due to dolichol metabolism defects Biochim Biophys Acta 1792 9 888 895 19419701 1:CAS:528: DC%2BD1MXhtFGqsLvL
9. C D'Souza-Schorey KR McLachlan, et al. 1994 Mammalian glycosyltransferases prefer glycosyl phosphoryl dolichols rather than glycosyl phosphoryl polyprenols as substrates for oligosaccharyl synthesis Arch Biochem Biophys 308 2 497 503 8109980 10.1006/abbi.1994.1070 (Pubitemid 24171429)
10. C Edlund M Soderberg, et al. 1994 Isoprenoids in aging and neurodegeneration Neurochem Int 25 1 35 38 7950967 10.1016/0197-0186(94)90050-7 1:CAS:528:DyaK2cXltlWmt7c%3D (Pubitemid 24229663)
11. TJ Ekstrom T Chojnacki, et al. 1987 The alpha-saturation and terminal events in dolichol biosynthesis J Biol Chem 262 9 4090 4097 3031061 1:STN:280:DyaL2s7ms1SitA%3D%3D
12. PG Elmberger P Engfeldt, et al. 1988 Presence of dolichol and its derivatives in human blood J Lipid Res 29 12 1651 1662 3244016 1:CAS:528:DyaL1MXpt1Klsw%3D%3D (Pubitemid 19030534)
13. J Ericsson EL Appelkvist, et al. 1993 Biosynthesis of dolichol and cholesterol in rat liver peroxisomes Biochimie 75 3-4 167 173 8507678 10.1016/0300-9084(93)90074-3 1:CAS:528:DyaK3sXkt1artbY%3D (Pubitemid 23140166)
14. Fernandez F, Rush JS, et al. (2001) The CWH8 gene encodes a dolichyl pyrophosphate phosphatase with a luminally oriented active site in the endoplasmic reticulum of Saccharomyces cerevisiae. J Biol Chem 276(44):41455-41464
15. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551 (Pubitemid 43943571)
16. Gao N, Lehrman MA, (2002) Coupling of the dolichol-P-P-oligosaccharide pathway to translation by perturbation-sensitive regulation of the initiating enzyme, GlcNAc-1-P transferase. J Biol Chem 277(42):39425-39435 (Pubitemid 35190917)
17. MT Garcia-Silva G Matthijs, et al. 2004 Congenital disorder of glycosylation (CDG) type Ie. A new patient J Inherit Metab Dis 27 5 591 600 15669674 10.1023/B:BOLI.0000042984.42433.d8 1:CAS:528:DC%2BD2cXnvVOnt7k%3D (Pubitemid 39295100)
18. Haeuptle MA, Hennet T (2009) Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat 30(12):1628-1641
19. L Heller P Orlean, et al. 1992 Saccharomyces cerevisiae sec59 cells are deficient in dolichol kinase activity Proc Natl Acad Sci USA 89 15 7013 7016 1323123 10.1073/pnas.89.15.7013 1:CAS:528:DyaK38XlsVOjsro%3D
20. Hubbard SC, Robbins PW (1980) Synthesis of the N-linked oligosaccharides of glycoproteins. Assembly of the lipid-linked precursor oligosaccharide and its relation to protein synthesis in vivo. J Biol Chem 255(24):11782-11793 (Pubitemid 11132192)
21. T Imbach B Schenk, et al. 2000 Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie J Clin Invest 105 2 233 239 10642602 10.1172/JCI8691 1:CAS:528:DC%2BD3cXltFelsw%3D%3D (Pubitemid 30054363)
22. J Jaeken G Matthijs 2007 Congenital disorders of glycosylation: a rapidly expanding disease family Annu Rev Genomics Hum Genet 8 261 278 17506657 10.1146/annurev.genom.8.080706.092327 1:CAS:528:DC%2BD2sXht1WksrrO
23. A Jakobsson E Swiezewska, et al. 1989 Uptake and modification of dietary polyprenols and dolichols in rat liver FEBS Lett 255 1 32 36 2507352 10.1016/0014-5793(89)81055-5 1:CAS:528:DyaK3cXnsVekug%3D%3D (Pubitemid 19224041)
24. J Jones SS Krag, et al. 2005 Controlling N-linked glycan site occupancy Biochim Biophys Acta 1726 2 121 137 16126345 1:CAS:528:DC%2BD2MXht1Sks7bP (Pubitemid 41572252)
25. MB Jones JN Rosenberg, et al. 2009 Structure and synthesis of polyisoprenoids used in N-glycosylation across the three domains of life Biochim Biophys Acta 1790 6 485 494 19348869 1:CAS:528:DC%2BD1MXmvFGht78%3D
26. K Kahrizi CH Hu, et al. 2011 Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3 Eur J Hum Genet 19 1 115 117 20700148 10.1038/ejhg.2010.132 1:CAS:528:DC%2BC3cXhsFChsb3N
27. RK Keller E Jehle, et al. 1982 The origin of dolichol in the liver of the rat. Determination of the dietary contribution J Biol Chem 257 15 8985 8989 6807986 1:CAS:528:DyaL38XltVyqsLc%3D (Pubitemid 12001866)
28. S Kim V Westphal, et al. 2000 Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) J Clin Invest 105 2 191 198 10642597 10.1172/JCI7302 1:CAS:528:DC%2BD3cXltFemtA%3D%3D (Pubitemid 30054358)
29. SS Krag 1998 The importance of being dolichol Biochem Biophys Res Commun 243 1 1 5 9473469 10.1006/bbrc.1997.7828 1:CAS:528:DyaK1cXpsVWltQ%3D%3D (Pubitemid 28414179)
30. Kranz C, Denecke J, et al. (2001) A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If). J Clin Invest 108(11):1613-1619 (Pubitemid 33144871)
31. Kranz C, Jungeblut C, et al. (2007) A defect in dolichol phosphate biosynthesis causesa new inherited disorder with death in early infancy. Am J Hum Genet 80(3):433-440
32. PM Krawitz MR Schweiger, et al. 2010 Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome Nat Genet 42 10 827 829 20802478 10.1038/ng.653 1:CAS:528:DC%2BC3cXhtVyiu7zE
33. DJ Lefeber J Schonberger, et al. 2009 Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies Am J Hum Genet 85 1 76 86 19576565 10.1016/j.ajhg.2009.06. 006 1:CAS:528:DC%2BD1MXhtVeltL7M
34. E Morava RA Wevers, et al. 2010 A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism Brain 133 11 3210 3220 20852264 10.1093/brain/awq261
35. V Pallottini M Marino, et al. 2003 Age-related changes of isoprenoid biosynthesis in rat liver and brain Biogerontology 4 6 371 378 14739708 10.1023/B:BGEN.0000006557.92558.60 1:CAS:528:DC%2BD3sXpsVGiu7g%3D (Pubitemid 38088148)
36. JF Pennock FW Hemming, et al. 1960 Dolichol: a naturally occurring isoprenoid alcohol Nature 186 470 472 14431627 10.1038/186470b0 1:CAS:528:DyaF3cXhtF2ls70%3D
37. JW Rip KK Carroll 1985 Distribution, metabolism and excretion of [1-14C]dolichol injected intravenously into rats Biochem J 227 3 705 710 4004792 1:CAS:528:DyaL2MXitFyrurc%3D (Pubitemid 15044646)
38. JW Rip CA Rupar, et al. 1981 Localization of a dolichyl phosphate phosphatase in plasma membranes of rat liver J Biol Chem 256 4 1929 1934 6257694 1:CAS:528:DyaL3MXhtFKnsb8%3D
39. JW Rip CA Rupar, et al. 1985 Distribution, metabolism and function of dolichol and polyprenols Prog Lipid Res 24 4 269 309 2819898 10.1016/0163-7827(85)90008-6 1:CAS:528:DyaL2sXkslGiug%3D%3D
40. AG Rosenwald SS Krag 1990 Lec9 CHO glycosylation mutants are defective in the synthesis of dolichol J Lipid Res 31 3 523 533 2111370 1:CAS:528: DyaK3cXhvFGksLY%3D (Pubitemid 20107992)
41. AG Rosenwald J Stoll, et al. 1990 Regulation of glycosylation. Three enzymes compete for a common pool of dolichyl phosphate in vivo J Biol Chem 265 24 14544 14553 2167320 1:CAS:528:DyaK3cXmtVykt7s%3D
42. JS Rush SK Cho, et al. 2002 Identification and characterization of a cDNA encoding a dolichyl pyrophosphate phosphatase located in the endoplasmic reticulum of mammalian cells J Biol Chem 277 47 45226 45234 12198133 10.1074/jbc.M207076200 1:CAS:528:DC%2BD38Xosl2lsLc%3D (Pubitemid 36159127)
43. JS Rush N Gao, et al. 2008 Recycling of dolichyl monophosphate to the cytoplasmic leaflet of the endoplasmic reticulum after the cleavage of dolichyl pyrophosphate on the lumenal monolayer J Biol Chem 283 7 4087 4093 18077451 10.1074/jbc.M707067200 1:CAS:528:DC%2BD1cXhs1Wgt7c%3D
44. JS Rush S Matveev, et al. 2010 Expression of functional bacterial undecaprenyl pyrophosphate synthase in the yeast rer2{Delta} mutant and CHO cells Glycobiology 20 12 1585 1593 20685834 10.1093/glycob/cwq107 1:CAS:528:DC%2BC3cXhsVSltLzL
45. Sagami H, Kurisaki A, et al. (1993) Formation of dolichol from dehydrodolichol is catalyzed by NADPH-dependent reductase localized in microsomes of rat liver. J Biol Chem 268(14):10109-10113 (Pubitemid 23150188)
46. Sato M, Sato K et al. (1999). The yeast RER2 gene, identified by endoplasmic reticulum protein localization mutations, encodes cis-prenyltransferase, a key enzyme in dolichol synthesis. Mol Cell Biol 19(1):471-483. (Pubitemid 29018449)
47. B Schenk F Fernandez, et al. 2001 The ins(ide) and out(side) of dolichyl phosphate biosynthesis and recycling in the endoplasmic reticulum Glycobiology 11 5 61R 70R 11425794 10.1093/glycob/11.5.61R 1:CAS:528:DC%2BD3MXkvFCmtbg%3D (Pubitemid 32691110)
48. P Shridas CJ Waechter 2006 Human dolichol kinase, a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site J Biol Chem 281 42 31696 31704 16923818 10.1074/jbc.M604087200 1:CAS:528:DC%2BD28XhtVOrtr3K (Pubitemid 46041434)
49. Shridas P, Rush JS et al. (2003) Identification and characterization of a cDNA encoding a long-chain cis-isoprenyltranferase involved in dolichyl monophosphate biosynthesis in the ER of brain cells. Biochem Biophys Res Commun 312(4):1349-1356 (Pubitemid 37490965)
50. K Skorupinska-Tudek J Wojcik, et al. 2008 Polyisoprenoid alcohols-recent results of structural studies Chem Rec 8 1 33 45 18302278 10.1002/tcr.20137 1:CAS:528:DC%2BD1cXjvVamsrg%3D
51. Spiro MJ, Spiro RG (1986) Control of N-linked carbohydrate unit synthesis in thyroid endoplasmic reticulum by membrane organization and dolichyl phosphate availability. J Biol Chem 261(31):14725-14732 (Pubitemid 17220268)
52. E Swiezewska W Danikiewicz 2005 Polyisoprenoids: structure, biosynthesis and function Prog Lipid Res 44 4 235 258 16019076 10.1016/j.plipres.2005.05.002 1:CAS:528:DC%2BD2MXmt1Srsbs%3D (Pubitemid 40968039)
53. S Takahashi T Koyama 2006 Structure and function of cis-prenyl chain elongating enzymes Chem Rec 6 4 194 205 16900467 10.1002/tcr.20083 1:CAS:528:DC%2BD28XptlymsLg%3D
54. O Tollbom G Dallner 1986 Dolichol and dolichyl phosphate in human tissues Br J Exp Pathol 67 5 757 764 3641633 1:CAS:528:DyaL28Xmt1egsrg%3D (Pubitemid 17168237)
55. DC Turner SM Gruner 1992 X-ray diffraction reconstruction of the inverted hexagonal (HII) phase in lipid-water systems Biochemistry 31 5 1340 1355 1736992 10.1021/bi00120a009 1:CAS:528:DyaK38XnvVykuw%3D%3D
56. Turunen M, Schedin-Weiss S (2007) Defect in fatty acid esterification of dolichol in Niemann-Pick type C1 mouse livers in vivo. Biochim Biophys Acta 1771(4):506-513 (Pubitemid 46518272)
57. C Valtersson G Van Duyn, et al. 1985 The influence of dolichol, dolichol esters, and dolichyl phosphate on phospholipid polymorphism and fluidity in model membranes J Biol Chem 260 5 2742 2751 3919007 1:CAS:528:DyaL2MXhvF2qsbg%3D (Pubitemid 15139330)
58. van Berkel MA, Rieger M, et al. (1999) The Saccharomyces cerevisiae CWH8 gene is required for full levels of dolichol-linked oligosaccharides in the endoplasmic reticulum and for efficient N-glycosylation. Glycobiology 9(3):243-253 (Pubitemid 29099710)
59. G Van Duijn C Valtersson, et al. 1986 Dolichyl phosphate induces non-bilayer structures, vesicle fusion and transbilayer movement of lipids: a model membrane study Biochim Biophys Acta 861 2 211 223 3756157
60. HA Van Houte PP Van Veldhoven, et al. 1997 Metabolism of dolichol, dolichoic acid and nordolichoic acid in cultured cells Biochim Biophys Acta 1347 1 93 100 9233691 (Pubitemid 27281659)
61. S Vermeer HP Kremer, et al. 2007 Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening J Neurol 254 10 1356 1358 17694350 10.1007/s00415-007-0546-3 1:CAS:528: DC%2BD2sXhtlyitb%2FN (Pubitemid 350112320)
62. WC Ward Z Guan, et al. 2007 Identification and quantification of dolichol and dolichoic acid in neuromelanin from substantia nigra of the human brain J Lipid Res 48 7 1457 1462 17446624 10.1194/jlr.C700008-JLR200 1:CAS:528:DC%2BD2sXnsFWhsbc%3D (Pubitemid 47312008)
63. MJ Wolf JS Rush, et al. 1991 Golgi-enriched membrane fractions from rat brain and liver contain long-chain polyisoprenyl pyrophosphate phosphatase activity Glycobiology 1 4 405 410 1668143 10.1093/glycob/1.4.405 1:CAS:528:DyaK38Xls1Siug%3D%3D