Inherited hematological disorders due to defects in coat protein (COP)II complex

American Journal of Hematology

Volumn 88, Issue 2, 2013, Pages 135-140

  Russo, Roberta ^a   Esposito, Maria Rosaria ^a   Iolascon, Achille ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 8; COAT PROTEIN COMPLEX II; ENDOPLASMIC RETICULUM GOLGI INTERMEDIATE COMPARTMENT PROTEIN 53; SECRETORY PROTEIN;

ANION EXCHANGE; BLOOD CLOTTING FACTOR 5 DEFICIENCY; COMBINED DEFICIENCY OF FACTOR 5 AND 8; CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE 2; ENDOPLASMIC RETICULUM; GENETIC DISORDER; GOLGI COMPLEX; HEMOPHILIA A; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; NONHUMAN; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN EXPRESSION; PROTEIN GLYCOSYLATION; PROTEIN TRANSPORT; REVIEW;

ANEMIA, DYSERYTHROPOIETIC, CONGENITAL; ANIMALS; BONE DISEASES, DEVELOPMENTAL; CRANIOFACIAL ABNORMALITIES; ENDOPLASMIC RETICULUM; FACTOR V DEFICIENCY; FAMILY HEALTH; GOLGI APPARATUS; HEMOPHILIA A; HUMANS; HYPOBETALIPOPROTEINEMIAS; MALABSORPTION SYNDROMES; MANNOSE-BINDING LECTINS; MEMBRANE PROTEINS; MONOMERIC GTP-BINDING PROTEINS; MUTATION; VESICULAR TRANSPORT PROTEINS;

EID: 84872978849     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.23292     Document Type: Review

References (77)

1. Powers ET, Morimoto RI, Dillin A, et al. Biological and chemical approaches to diseases of proteostasis deficiency. Ann Rev Biochem 2009;78:959-991.
2. Balch WE, Morimoto RI, Dillin A, et al. Adapting proteostasis for disease intervention. Science 2008;319:916-919.
3. Palade G. Intracellular aspects of the process of protein synthesis. Science 1975;189:867.
4. Bonifacino JS, Glick BS. The mechanisms of vesicle budding and fusion. Cell 2004;116:153-166.
5. Bonifacino JS, Lippincott-Schwartz J. Coat proteins: Shaping membrane transport. Nat Rev Mol Cell Biol 2003;4:409-414.
6. Fromme JC, Orci L, Schekman R. Coordination of COPII vesicle trafficking by Sec23. Trends Cell Biol 2008;18:330-336.
7. Novick P, Field C, Schekman R. Identification of 23 complementation groups required for post-translational events in the yeast secretory pathway. Cell 1980;21:205-215.
8. Rossanese OW, Soderholm J, Bevis BJ, et al. Golgi structure correlates with transitional endoplasmic reticulum organization in Pichia pastoris and Saccharomyces cerevisiae. J Cell Biol 1999;145:69-81.
9. Bannykh SI, Rowe T, Balch WE. The organization of endoplasmic reticulum export complexes. J Cell Biol 1996;135:19-35.
10. Orci L, Ravazzola M, Meda P, et al. Mammalian Sec23p homologue is restricted to the endoplasmic reticulum transitional cytoplasm. Proc Natl Acad Sci USA 1991;88:8611-8615.
11. Tang BL, Wang Y, Ong YS, et al. COPII and exit from the endoplasmic reticulum. Biochim Biophys Acta 2005;1744:293-303.
12. Bannykh SI, Balch WE. Membrane dynamics at the endoplasmic reticulum-Golgi interface. J Cell Biol 1997;138:1-4.
13. Scales SJ, Pepperkok R, Kreis TE. Visualization of ER-to-Golgi transport in living cells reveals a sequential mode of action for COPII and COPI. Cell 1997;90:1137-1148.
14. Ellgaard L, Helenius A. Quality control in the endoplasmic reticulum. Nat Rev Mol Cell Biol 2003;4:181-191.
15. Vembar SS, Brodsky JL. One step at a time: endoplasmic reticulum-associated degradation. Nat Rev Mol Cell Biol 2008;9:944-957.
16. Barlowe C, Orci L, Yeung T, et al. COPII: A membrane coat formed by Sec proteins that drive vesicle budding from the endoplasmic reticulum. Cell 1994;77:895-907.
17. Skop AR, Liu H, Yates JIII, et al. Dissection of the mammalian midbody proteome reveals conserved cytokinesis mechanisms. Science 2004;305:61-66.
18. Balch WE, Glick BS, Rothman JE. Sequential intermediates in the pathway of intercompartmental transport in a cell-free system. Cell 1984;39:525-536.
19. Saraste J, Goud B. Functional symmetry of endomembranes. Mol Biol Cell 2007;18:1430-1436.
20. Kuge O, Dascher C, Orci L, et al. Sar1 promotes vesicle budding from the endoplasmic reticulum but not Golgi compartments. J Cell Biol 1994;125:51-65.
21. Paccaud JP, Reith W, Carpentier JL, et al. Cloning and functional characterization of mammalian homologues of the COPII component Sec23. Mol Biol Cell 1996;7:1535-1546.
22. Wendeler MW, Paccaud JP, Hauri HP. Role of Sec24 isoforms in selective export of membrane proteins from the endoplasmic reticulum. EMBO Rep 2007;8:258-264.
23. Mancias JD, Goldberg J. Structural basis of cargo membrane protein discrimination by the human COPII coat machinery. EMBO J 2008;27:2918-2928.
24. Shaywitz DA, Orci L, Ravazzola M, et al. Human SEC13Rp functions in yeast and is located on transport vesicles budding from the endoplasmic reticulum. J Cell Biol 1995;128:769-777.
25. Tang BL, Zhang T, Low DY, et al. Mammalian homologues of yeast sec31p. An ubiquitously expressed form is localized to endoplasmic reticulum (ER) exit sites and is essential for ER-Golgi transport. J Biol Chem 2000;275:13597-13604.
26. Shugrue CA, Kolen ER, Peters H et al. Identification of the putative mammalian orthologue of Sec31P, a component of the COPII coat. J Cell Sci 1999;112:4547-4556.
27. Stankewich MC, Stabach PR, Morrow JS. Human Sec31B: A family of new mammalian orthologues of yeast Sec31p that associate with the COPII coat. J Cell Sci 2006;119:958-969.
28. Bouma ME, Beucler I, Aggerbeck LP, et al. Hypobetalipoproteinemia with accumulation of an apoprotein B-like protein in intestinal cells. Immunoenzymatic and biochemical characterization of seven cases of Anderson's disease. J Clin Invest 1986;78:398-410.
29. Charcosset M, Sassolas A, Peretti N, et al. Anderson or chylomicron retention disease: Molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein. Mol Genet Metab 2008;93:74-84.
30. Roy CC, Levy E, Green PH, et al. Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease. Gastroenterology 1987;92:390-399.
31. Dannoura AH, Berriot-Varoqueaux N, Amati P, et al. Anderson's disease: Exclusion of apolipoprotein and intracellular lipid transport genes. Arterioscler Thromb Vasc Biol 1999;19:2494-2508.
32. Nemeth A, Myrdal U, Veress B, et al. Studies on lipoprotein metabolism in a family with jejunal chylomicron retention. Eur J Clin Invest 1995;25:271-280.
33. Levy E, Marcel Y, Deckelbaum RJ, et al. Intestinal apoB synthesis, lipids, and lipoproteins in chylomicron retention disease. J Lipid Res 1987;28:1263-1274.
34. Strich D, Goldstein R, Phillips A, et al. Anderson's disease: no linkage to the apo B locus. J Pediatr Gastroenterol Nutr 1993;16:257-264.
35. Jones B, Jones EL, Bonney SA, et al. Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. Nat Genet 2003;34:29-31.
36. Peretti N, Sassolas A, Roy CC, et al. Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers. Orphanet J Rare Dis 2010;5:24.
37. Boyadjiev SA, Justice CM, Eyaid W, et al. A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21. Hum Genet 2003;113:1-9.
38. Boyadjiev SA, Fromme JC, Ben J, et al. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. Nat Genet 2006;38:1192-1197.
39. Fromme JC, Ravazzola M, Hamamoto S, et al. The genetic basis of a craniofacial disease provides insight into COPII coat assembly. Dev Cell 2007;13:623-634.
40. Lang MR, Lapierre LA, Frotscher M, et al. Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation. Nat Genet 2006;38:1198-1203.
41. Roberts B, Clucas C, Johnstone IL. Loss of SEC-23 in Caenorhabditis elegans causes defects in oogenesis, morphogenesis, and extracellular matrix secretion. Mol Biol Cell 2003;14:4414-4426.
42. Iolascon A, Delaunay J, Wickramasinghe SN, et al. Natural history of congenital dyserythropoietic anemia type II. Blood 2001;98:1258-1260.
43. Crookston JH, Crookston MC, Burnie KL, et al. Hereditary erythroblastic multinuclearity associated with a positive acidified-serum test: A type of congenital dyserythropoietic anaemia. Br J Haematol 1969;17:11-26.
44. Iolascon A, D'Agostaro G, Perrotta S, et al. Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects. Haematologica 1996;81:543-59.
45. Heimpel H, Kellermann K, Neuschwander N et al. The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells. Haematologica 2010;95:1034-6.
46. Alloisio N, Texier P, Denoroy L et al. The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum. Blood 1996;87:4433-4439.
47. Anselstetter V, Horstmann HJ, Heimpel H. Congenital dyserythropoietic anaemia, types I and II: Aberrant pattern of erythrocyte membrane proteins in CDA II, as revealed by two-dimensional polyacrylamide gel electrophoresis. Br J Haematol 1977;35:209-215.
48. De Franceschi L, Turrini F, del Giudice EM, et al. Decreased band 3 anion transport activity and band 3 clusterization in congenital dyserythropoietic anemia type II. Exp Hematol 1998;26:869-873.
49. Turrini F, Mannu F, Cappadoro M, et al. Binding of naturally occurring antibodies to oxidatively and nonoxidatively modified erythrocyte band 3. Biochim Biophys Acta 1994;1190:297-303.
50. Heimpel H, Anselstetter V, Chrobak L, et al. Congenital dyserythropoietic anemia type II: Epidemiology, clinical appearance, and prognosis based on long-term observation. Blood 2003;102:4576-4581.
51. Cazzola M, Barosi G, Bergamaschi G, et al. Iron loading in congenital dyserythropoietic anaemias and congenital sideroblastic anaemias. Br J Haematol 1983;54:649-654.
52. Heimpel H, Matuschek A, Ahmed M, et al. Frequency of congenital dyserythropoietic anemias in Europe. Eur J Haematol 2010;85:20-25.
53. Gasparini P, Miraglia del Giudice E, Delaunay J, et al. Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genome wide search. Am J Hum Genet 1997;61:1112-1116.
54. Denecke J, Marquardt T. Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): Where are we now?Biochim Biophys Acta 2009;1792:915-920.
55. Bianchi P, Fermo E, Vercellati C, et al. Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. Hum Mut 2009;30:1292-1298.
56. Schwarz K, Iolascon A, Verissimo F, et al. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet 2009;41:936-940.
57. Iolascon A, Russo R, Esposito MR, et al. Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: New mutations in the SEC23B gene and a search for a genotype-phenotype relationship. Haematologica 2010;95:708-715.
58. Russo R, Esposito MR, Asci R, et al. Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene. Am J Hematol 2010;85:915-920.
59. Punzo F, Bertoli-Avella AM, Scianguetta S, et al. Congenital Dyserythropoietic Anemia Type II: Molecular analysis and expression of the SEC23B Gene. Orphanet J Rare Dis 2011;6:89.
60. Liu G, Niu S, Dong A, et al. A Chinese family carrying novel mutations in SEC23B and HFE2, the genes responsible for congenital dyserythropoietic anaemia II (CDA II) and primary iron overload, respectively. Br J Haematol 2012;158:143-145.
61. Russo R, Gambale A, Esposito MR, et al. Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population. Am J Hematol 2011;86:727-732.
62. Mansouritorgabeh H, Rezaieyazdi Z, Pourfathollah AA, et al. Haemorrhagic symptoms in patients with combined factors V and VIII deficiency in north-eastern Iran. Haemophilia 2004;10:271-275.
63. Seligsohn U, Zivelin A, Zwang E. Combined factor V and VIII deficiency among non-Ashkenazi Jews. New Engl J Med 1982;307:1191-1195.
64. Zhang B. Recent developments in the understanding of the combined deficiency of FV and FVIII. Br J Haematol 2009;145:15-23.
65. Nichols WC, Seligsohn U, Zivelin A, et al. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell 1998;93:61-70.
66. Zhang B, Cunningham MA, Nichols WC, et al. Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. Nat Genet 2003;34:220-225.
67. Zhang B, Spreafico M, Zheng C, et al. Genotype-phenotype correlation in combined deficiency of factor V and factor VIII. Blood 2008;111:5592-5600.
68. Elmahmoudi H, Wigren E, Laatiri A, et al. Analysis of newly detected mutations in the MCFD2 gene giving rise to combined deficiency of coagulation factors V and VIII. Haemophilia 2011;17:e923-e927.
69. Zhang B, Kaufman RJ, Ginsburg D. LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway. J Biol Chem 2005;280:25881-25886.
70. Zheng C, Liu H, Yuan S, et al. Molecular basis of LMAN1 in coordinating LMAN1-MCFD2 cargo receptor formation and ER-to-Golgi transport of FV/FVIII. Blood 2010;116:5698-5706.
71. Miller EA, Beilharz TH, Malkus PN, et al. Multiple cargo-binding sites on the COPII subunit, Sec24p, ensure capture of diverse membrane proteins into transport vesicles. Cell 2003;114:497-509.
72. Baines AC, Zhang B. Receptor-mediated protein transport in the early secretory pathway. Trends Biochem Sci 2007;32:381-388.
73. Nyfeler B, Reiterer V, Wendeler MW, et al. Identification of ERGIC-53 as an intracellular transport receptor of 1-antitrypsin. J Cell Biol 2008;180:705-712.
74. Vollenweider F, Kappeler F, Itin C, et al. Mistargeting of the lectin ERGIC-53 to the endoplasmic reticulum of HeLa cells impairs the secretion of a lysosomal enzyme. J Cell Biol 1998;142:377-389.
75. Zhang B, Zheng C, Zhu M, et al. Mice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of α1-antitrypsin. Blood 2011;118:3384-3391.
76. Cunningham MA, Pipe SW, Zhang B, et al. LMAN1 is a molecular chaperone for the secretion of coagulation factor VIII. J Thromb Haemost 2003;1:2360-2367.
77. De Matteis MA, Luini A. Mendelian disorders of membrane trafficking. N Engl J Med 2011;365:927-938.