The cell biology of Hermansky-Pudlak syndrome: Recent advances

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Volumn 6, Issue 7, 2005, Pages 525-533

  Di Pietro, Santiago M ^a   Dell'Angelica, Esteban C ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

AP 3; BLOC; HOPS; Lysosome; Melanosome; Membrane fusion; Organelle biogenesis; Platelet dense granule; Protein trafficking; Schizophrenia

Indexed keywords

ADAPTOR PROTEIN; BIOGENESIS OF LYSOSOME RELATED COMPLEX 1; BIOGENESIS OF LYSOSOME RELATED COMPLEX 2; BIOGENESIS OF LYSOSOME RELATED COMPLEX 3; GUANOSINE TRIPHOSPHATASE; HOMOTYPIC VACUOLAR PROTEIN SORTING; MEMBRANE PROTEIN; RAB PROTEIN; RAB38 PROTEIN; UNCLASSIFIED DRUG;

BIOGENESIS; CELL FUNCTION; CELL ORGANELLE; CELL TRANSPORT; CELLULAR DISTRIBUTION; CLINICAL FEATURE; CYTOLOGY; DISEASE MODEL; GENE EXPRESSION REGULATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LYSOSOME; MELANOSOME; MEMBRANE FUSION; MUTATIONAL ANALYSIS; NONHUMAN; OCULAR ALBINISM; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; PROTEIN TARGETING; REVIEW; SCHIZOPHRENIA;

HERMANSKI-PUDLAK SYNDROME; HUMANS; PROTEINS;

EID: 21044448584     PISSN: 13989219     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0854.2005.00299.x     Document Type: Review

References (63)

1. Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies. Blood 1959;14: 162-169.
2. Novak EK, Hui S-W, Swank RT. The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency. Blood 1981;57:38-43.
3. Novak EK, Hui S-W, Swank RT. Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood 1984;63:536-544.
4. Spritz RA, Chiang P-W, Oiso N, Alkhateeb A. Human and mouse disorders of pigmentation. Curr Opin Genet Dev 2003;13:284-289.
5. Gunay-Aygun M, Huizing M, Gahl WA. Molecular defects that affect platelet dense granules. Semin Thromb Hemost 2004;30:537-547.
6. Raposo G, Fevrier B, Stoorvogel W, Marks MS. Lysosome-related organelles. a view from immunity and pigmentation. Cell Struct Funct 2002;27:443-456.
7. Weaver TE, Na C-L, Stahlam M. Biogenesis of lamellar bodies, lysosome-related organelles involved in storage and secretion of pulmonary surfactant. Semin Cell Dev Biol 2002;13:263-270.
8. Stinchcombe J, Bossi G, Griffiths GM. Linking albinism and immunity: the secrets of secretory lysosomes. Science 2004;305:55-59.
9. Kantheti P, Qiao X, Diaz ME, Peden AA, Meyer GE, Carskadon SL, Kapfhamer D, Sufalko D, Robinson MS, Noebels JL, Burmeister M. Mutation in AP-3 δ in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. Neuron 1998;21:111-122.
10. Detter JC, Zhang Q, Mules EH, Novak EK, Mishra VS, Wei L, McMurtrie EB, Tchernev VT, Wallace MR, Seabra MC, Swank RT, Kingsmore SF. Rab geranylgeranyl transferase α mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis. Proc Natl Acad Sci USA 2000;97:4144-4149.
11. Ménasché G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet 2000;25:173-176.
12. Loftus SK, Larson DM, Baxter LL, Antonellis A, Chen Y, Wu X, Jiang Y, Bittner M, Hammer JA III, Pavan WJ. Mutation of melanosome protein RAB38 in chocolate mice. Proc Natl Acad Sci USA 2002;99: 4471-4476.
13. Oiso N, Riddle SR, Serikawa T, Kuramoto T, Spritz RA. The rat Ruby (R) locus is Rab38. Identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain. Mamm Genome 2004;15:307-314.
14. Dell'Angelica EC. The building BLOC(k)s of lysosomes and related organelles. Curr Opin Cell Biol 2004;16:458-464.
15. Li W, Rusiniak ME, Chintala S, Gautam R, Novak EK, Swank RT. Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles. Bioessays 2004;26:616-628.
16. Hoffman-Sommer M, Grynberg M, Kucharczyk R, Rytka J. The ChiPS domain - ancient traces for the Hermansky-Pudlak syndrome. Traffic 2005;6: doi: 10.1111/j.1600-0854.2005.00301.x
17. Robinson MS, Bonifacino JS. Adaptor-related proteins. Curr Opin Cell Biol 2001;13:444-453.
18. Kim BY, Krämer H, Yamamoto A, Kominami E, Kohsaka S, Akazawa C. Molecular characterization of mammalian homologues of Class C Vps proteins that interact with syntaxin-7. J Biol Chem 2001;276: 29393-29402.
19. Richardson SCW, Winistorfer SC, Poupon V, Luzio JP, Piper RC. Mammalian late vacuole protein sorting orthologues participate in early endosomal fusion and interact with the cytoskeleton. Mol Biol Cell 2004;15:1197-1210.
20. Starcevic M, Dell'Angelica EC. Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as sub-units of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J Biol Chem 2004;279:28393-28401.
21. Lefrancois S, Janvier K, Boehm M, Ooi CE, Bonifacino JS. An ear-core interaction regulates the recruitment of the AP-3 complex to membranes. Dev Cell 2004;7:619-625.
22. Styers ML, Kowalczyk AP, Faundez V. Intermediate filaments and vesicular membrane traffic: The odd couple's first dance? Traffic 2005;6:359-365.
23. Kim BY, Ueda M, Kominami E, Akagawa K, Kohsaka S, Akazawa C. Identification of mouse Vps16 and biochemical characterization of mammalian Class C Vps complex. Biochem Biophys Res Commun 2003;311:577-582.
24. Ilardi JM, Mochida S, Sheng Z-H. Snapin: a SNARE-associated protein implicated in synaptic transmission. Nat Neurosci 1999;2:119-124.
25. Vites O, Rhee J-S, Schwartz M, Rosenmund C, Jahn R. Reinvestigation of the role of snapin in neurotransmitter release. J Biol Chem 2004;279:26251-26256.
26. Odorizzi G, Cowles CR, Emr SD. The AP-3 complex: a coat of many colours. Trends Cell Biol 1998;8:282-288.
27. Huizing M, Sarangarajan R, Strovel E, Zhao Y, Gahl WA, Boissy RE. AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes. Mol Biol Cell 2001;12:2075-2085.
28. Peden AA, Corschot V, Hesser BA, Austin CD, Scheller RH, Klumperman J. Localization of the AP-3 adaptor complex defines a novel endosomal exit site for lysosomal membrane proteins. J Cell Biol 2004;164:1065-1076.
29. Sun B, Chen L, Cao W, Roth AF, Davis NG. The yeast casein kinase Yck3p is palmitoylated, then sorted to the vacuolar membrane with AP-3-dependent recognition of a YXXΦ adaptin sorting signal. Mol Biol Cell 2004;15:1397-1406.
30. Clark RH, Stinchcombe JC, Day A, Blott E, Booth S, Bossi G, Hamblin T, Davies EG, Griffiths GM. Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. Nat Immunol 2003;4:1111-1120.
31. Shotelersuk V, Dell'Angelica EC, Hartnell L, Bonifacino JS, Gahl WA. A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation. Am J Med 2000;108:423-427.
32. Benson KF, Li F-Q, Person RE, Albani D, Duan Z, Wechsler J, Meade-White K, Williams K, Acland GM, Niemeyer G, Lothrop CD, Horwitz M. Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase. Nat Genet 2003;35:90-96.
33. Sugita M, Cao X, Watts GFM, Rogers RA, Bonifacino JS, Brenner MB. Failure of trafficking and antigen presentation by CD1 in AP-3-deficient cells. Immunity 2002;16:697-706.
34. Subramanian S, Woolford CA, Jones EW. The Sec1/Munc18 protein, Vps33p, functions at the endosome and the vacuole of Saccharomyces cerevisiae. Mol Biol Cell 2004;15:2593-2605.
35. Bugnicourt A, Froissard M, Sereti K, Ulrich HD, Haguenauer-Tsapis R, Galan J-M. Antagonistic roles of ESCRT and Vps Class C/HOPS complexes in the recycling of yeast membrane proteins. Mol Biol Cell 2004;15:4203-4214.
36. Caplan S, Hartnell LM, Aguilar RC, Naslavsky N, Bonifacino JS. Human Vam6p promotes lysosome clustering and fusion in vivo. J Cell Biol 2001;154:109-122.
37. Poupon V, Stewart A, Gray SR, Piper RC, Luzio JP. The role of mVps18p in clustering, fusion, and intracellular localization of late endocytic organelles. Mol Biol Cell 2003;14:4015-4027.
38. Wurmser AE, Sato TK, Emr SD, New component of the vacuolar class c-VPS complex couples nucleotide exchange on the Ypt7 GTPase to SNARE-dependent docking and fusion. J Cell Biol 2000;151:551-562.
39. Sato TK, Rehling P, Peterson MR, Emr SD. Class C Vps protein complex regulates vacuolar SNARE pairing and is required for vesicle docking/fusion. Mol Cell 2000;6:661-671.
40. Rehling P, Darsow T, Katzmann DJ, Emr SD. Formation of AP-3 transport intermediates requires Vps41 function. Nat Cell Biol 1999;6:346-353.
41. LaGrassa TJ, Ungermann C. The vacuolar kinase Yck3 maintains organelle fragmentation by regulating the HOPS tethering complex. J Cell Biol 2005;168:401-414.
42. Gissen P, Johnson CA, Gentle D, Hurst L, Doherty A, O'Kane CJ, Kelly DA, Maher ER. Comparative evolutionary analysis of VPS33 homologues: Genetic and functional insights. Hum Mol Genet (in press)
43. McVey Ward D, Radisky D, Scullion MA, Tuttle MS, Vaughn M, Kaplan J. hVPS41 is expressed in multiple isoforms and can associate with vesicles through a RING-H2 finger motif. Exp Cell Res 2001;267:126-134.
44. Boissy RE, Zhao Y, Gahl WA. Altered protein localization in melanocytes from Hermansky-Pudlak syndrome. Support for the role of the HPS gene product in intracellular trafficking. Lab Invest 1998;78:1037-1048.
45. Nazarian R, Falcón-Pérez JM, Dell'Angelica EC. Biogenesis of lysosome-related organelles complex 3 (BLOC-3). a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Proc Natl Acad Sci USA 2003;100:8770-8775.
46. Huizing M, Hess R, Dorward H, Claassen DA, Helip-Wooley A, Kleta R, Kaiser-Kupfer MI, White JG, Gahl WA. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Traffic 2004;5:711-722.
47. Jäger D, Storckert E, Jäger E, Güre AO, Scanlan MJ, Knuth A, Old LJ, Chen Y-T. Serological cloning of a melanocyte rab guanosine 5′-triphosphate-binding protein and a chromosome condensation protein from a melanoma complementary DNA library. Cancer Res 2000;60:3584-3591.
48. Ma J, Plesken H, Treisman JE, Edelman-Novemsky I, Ren M. Lightoid and claret a rab GTPase and its putative guanine nucleoticle exchange factor in biogenesis of Drosophila eye pigment granules. Proc Natl Acad Sci USA 2004;101:11652-11657.
49. Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the β3A subunit of the AP-3 adaptor. Mol Cell 1999;3:11-21.
50. Fang L, Seymour AB, Jiang S, To A, Peden AA, Novak EK, Zhen L, Rusiniak ME, Eicher EM, Robinson MS, Gorin MB, Swank RT. The β3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. Hum Mol Genet 1999;8: 323-330.
51. Peden AA, Rudge RE, Lui WWY, Robinson MS. Assembly and function of AP-3 complexes in cells expressing mutant subunits. J Cell Biol 2002;156:327-336.
52. Blumstein J, Faundez V, Nakatsu F, Saito T, Ohno H, Kelly RB. The neuronal form of adaptor protein-3 is required for synaptic vesicle formation from endosomes. J Neurosci 2001;21:8034-8042.
53. Nakatsu F, Okada M, Mori F, Kumazawa N, Iwasa H, Zhu G, Kasagi Y, Kamiya H, Harada A, Nishimura K, Takeuchi A, Miyazaki T, Watanabe M, Yuasa S, Manabe T et al. Defective function of GABA-containing synaptic vesicles in mice lacking the AP-3B clathrin adaptor. J Cell Biol 2004;167:293-302.
54. Seong E, Wainer BH, Hughes ED, Saunders TL, Burmeister M, Faundez V. Genetic analysis of the neuronal and ubiquitous AP-3 adaptor complexes reveals divergent functions in brain. Mol Biol Cell 2005;16:128-140.
55. Nishimura N, Plutner H, Hahn K, Balch WE. The δ subunit of AP-3 is required for efficient transport of VSV-G from the trans-Golgi network to the cell surface. Proc Natl Acad Sci USA 2002;99:6755-6760.
56. Dong X, Li H, Derdowski A, Ding L, Burnett A, Chen X, Peters TR, Dermody TS, Woodruff E, Wang J-J, Spearman P. AP-3 directs the intracellular trafficking of HIV-1 Gag and plays a key role in particle assembly. Cell 2005;120:663-674.
57. Suzuki T, Oiso N, Gautam R, Novak EK, Panthier J-J, Suprabha PG, Vida T, Swank RT, Spritz RA. The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation. Proc Natl Acad Sci USA 2003;100:1146-1150.
58. Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, McKiernan PJ, Klomp LWJ, Morris AAM, Wraith JE, McClean P, Lynch SA, Thompson RJ, Lo B, Quarrell OW et al. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet 2004;36:400-404.
59. Benson MA, Newey SE, Martin-Rendon E, Hawkes R, Blake DJ. Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain. J Biol Chem 2001;276:24232-24241.
60. Benson MA, Tinsley CL, Blake DJ. Myospryn is a novel binding partner for dysbindin in muscle. J Biol Chem 2004;279:10450-10458.
61. Kendler KS. Schizophrenia genetics and dysbindin: a corner turned? Am J Phychiatry 2004;161:1533-1536.
62. Talbot K, Eidem WL, Tinsley CL, Benson MA, Thompson EW, Smith RJ, Hahn C-G, Siegel SJ, Trojanowski JQ, Gur RE, Blake DJ, Arnold SE. Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia. J Clin Invest 2004;113:1353-1363.
63. Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC et al. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet 2003;35:84-89.