Antigen presentation and lysosomal membrane traffic in the Chediak-Higashi syndrome

Protoplasma

Volumn 210, Issue 3-4, 2000, Pages 117-122

  Faigle, W ^a   Raposo, G ^b   Amigorena, S ^a,c  

^a INSERM   (France)

^b CNRS   (France)

^c INSTITUT CURIE   (France)

Author keywords

Antigen presentation; Chediak Higashi syndrome; Endosomal transport; Immunodeficiency; Macrolysosomes; Major histocompatibility complex class II

Indexed keywords

ANTIGEN PRESENTATION; CELL MEMBRANE TRANSPORT; CHEDIAK HIGASHI SYNDROME; CYTOSOL; ENDOSOME; GENE MUTATION; GENETIC DISORDER; LYSOSOME; PROTEIN PROTEIN INTERACTION;

EID: 0034060687     PISSN: 0033183X     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01276851     Document Type: Review

References (33)

1. Andrade MA, Bork P (1995) HEAT repeats in the Huntington's disease protein. Nat Genet 11: 115-116
2. Baetz K, Isaaz S, Griffiths GM (1995) Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a secretory defect that prevents lytic granule exocytosis. J Immunol 154: 6122-6131
3. Barbosa MD, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, Pastural E, Dufourcq-Lagelouse R, Fischer A, Holcombe RF, Wallace MR, Brandt SJ, de Saint Basile G, Kingsmore SF (1997) Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. Hum Mol Genet 6: 1091-1098
4. -Nguyen QA, Tchernev VT, Ashley JA, Detter JC, Blaydes SM, Brandt SJ, Chotai D, Hodgman C, Solari RC, Lovett M, Kingsmore SF (1996) Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 382: 262-265 (Erratum, 385: 97 [1997])
5. Belmont LD, Mitchison TJ (1996) Identification of a protein that interacts with tubulin dimers and increases the catastrophe rate of microtubules. Cell 84: 623-631
6. Blume RS, Wolff SM (1972) The Chediak-Higashi syndrome: studies in four patients and a review of the literature. Medicine 51: 247-280
7. Burkhardt JK, Wiebel FA, Hester S, Argon Y (1993) The giant organelles in Beige and Chediak-Higashi fibroblasts are derived from late endosomes and mature lysosomes. J Exp Med 178: 1845-1856
8. Cavarra E, Martorana PA, Cortese S, Gambelli F, Di Simplicio P, Lungarella G (1997) Neutrophils in beige mice secrete normal amounts of cathepsin G and a 46 kDa latent form of elastase that can be activated extracellularly by proteolytic activity. Biol Chem 378: 417-423
9. Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS (1999) Altered trafficking of lysosomal proteins in the Hermansky-Pudlak-Syndrome due to mutations in the β3A subunit of the AP-3 adaptor. Mol Cell 3: 11-21
10. Faigle W, Raposo G, Tenza D, Pinet V, Vogt AB, Kropshofer H, Fischer A, de Saint-Basile G, Amigorena S (1998) Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome. J Cell Biol 141: 1121-1134
11. Haddad E, Le Deist F, Blanche S, Benkerrou M, Rohrlich P, Vilmer E, Griscelli C, Fischer A (1995) Treatment of Chediak-Higashi syndrome by allogenic bone marrow transplantation: report of 10 cases. Blood 85: 3328-3333
12. Haliotis T, Roder J, Klein J, Ortaldo J, Fauci AS, Herbermann RB (1980) Chediak Higashi gene in humans I: impairement of Natural-Killer function. J Exp Med 151: 1039-1048
13. Holcombe RF, Jones J, Stewart RM (1994) Lysosomal enzyme activities in Chediak-Higashi syndrome: evaluation of lymphoblastoid cell lines, a review of the literature. Immunodeficiency 5: 131-140
14. Jackson IJ (1997) Homologous pigmentation mutations in human, mouse and other model organisms. Hum Mol Genet 6: 1613-1624
15. Jones KL, Stewart RM, Fowler M, Fukuda M, Holcombe RF (1992) Chediak-Higashi lympoblastoid cell line: granule characteristics and expression of lysosome-associated membrane proteins. Clin Immunol Immunopathol 65: 219-226
16. Kantheti P, Qiao X, Diaz ME, Peden AA, Meyer GE, Carskadon SL, Kapfhamer D, Sufalko D, Robinson MS, Noebels JL, Burmeister M (1998) Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. Neuron 21: 111-122
17. Karim MA, Nagle DL, Kandil HH, Burger J, Moore KJ, Spritz RA (1997) Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Hum Mol Genet 6: 1087-1089
18. Klein M, Roder J, Haliotis T, Korec S, Jett JR, Herbermann RB, Katz P, Fauci AS (1980) Chediak-Higashi gene in humans II: the selectivity of the defect in Natural-Killer and antibody-dependent cell-mediated cytotoxicity function. J Exp Med 151: 1049-1058
19. Mercer JA, Seperack PK, Strobel MC, Copeland NG, Jenkins NA (1991) Novel myosin heavy chain encoded by murine dilute coat colour locus. Nature 349: 709-713 (Erratum, 352: 547)
20. Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork P, Misumi DJ, McGrail SH, Dussault BJ Jr, Perou CM, Boissy RE, Duyk GM, Spritz RA, Moore KJ (1996) Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet 14: 307-311
21. Neer EJ, Schmidt CJ, Nambudripad R, Smith TF (1994) The ancient regulatory-protein family of WD-repeat proteins. Nature 371: 297-300 (Erratum, 371: 812)
22. Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao JI, Frenk E, Tamura N, Spritz RA (1996) Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 14: 300-306
23. Ooi CE, Moreira JE, Dell'Angelica EC, Poy G, Wassarman DA, Bonifacino JS (1997) Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet. EMBO J 16: 4508-4518
24. Panaretou C, Domin J, Cockcroft S, Waterfield MD (1997) Characterization of p150, an adaptor protein for the human phosphatidylinositol (PtdIns) 3-kinase: substrate presentation by phosphatidylinositol transfer protein to the p150.Ptdins 3-kinase complex. J Biol Chem 272: 2477-2485
25. Pastural E, Barrat FJ, Dufourcq-Lagelouse R, Certain S, Sanal O, Jabado N, Seger R, Griscelli C, Fischer A, de Saint Basile G (1997) Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nat Genet 16: 289-292
26. Perou CM, Leslie JD, Green W, Li L, Ward DM, Kaplan J (1997) The Beige/Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein. J Biol Chem 272: 29790-29794
27. -Moore KJ, Nagle DL, Misumi DJ, Woolf EA, McGrail SH, Holmgren L, Brody TH, Dussault BJ Jr, Monroe CA, Duyk GM, Pryor RJ, Li L, Justice MJ, Kaplan J (1996) Identification of the murine beige gene by YAC complementation and positional cloning. Nat Genet 13: 303-308
28. Ramsay M (1996) Protein trafficking violations. Nat Genet 14: 242-245
29. Raposo G, Nijman HW, Stoorvogel W, Liejendekker R, Harding CV, Melief CJ, Geuze HJ (1996) B lymphocytes secrete antigen-presenting vesicles. J Exp Med 183: 1161-1172
30. Roder JC, Haliotis T, Klein M, Korec S, Jett JR, Ortaldo J, Heberman RB, Katz P, Fauci AS (1980) A new immunodeficiency disorder in humans involving NK cells. Nature 284: 553-555
31. Rubin CM, Burke BA, McKenna RW, McClain KL, White JG, Nesbit ME Jr, Filipovich AH (1985) The accelerated phase of Chediak-Higashi syndrome: an expression of the virus-associated hemophagocytic syndrome? Cancer 56: 524-530
32. Stack JH, Emr SD (1994) Vps34p required for yeast vacuolar protein sorting is a multiple specificity kinase that exhibits both protein kinase and phosphatidylinositol-specific PI 3-kinase activities. J Biol Chem 269: 31552-31562
33. Windhorst DB, Padgett G (1973) The Chediak-Higashi syndrome and the homologous trail in animals. J Invest Dermatol 60: 529-537