• 1
    Huizing M, Anikster Y, Gahl WA. Hermansky–Pudlak syndrome and related disorders of organelle formation. Traffic 2000;1: 823835.DOI: 10.1034/j.1600-0854.2000.011103.x
  • 2
    Spritz RA. Hermansky–Pudlak syndrome and pale ear: melanosome-making for the millennium. Pigment Cell Res 2000;13: 1520.DOI: 10.1034/j.1600-0749.2000.130104.x
  • 3
    Dell'Angelica EC, Mullins C, Caplan S, Bonifacino JS. Lysosome-related organelles. FASEB J 2000;14: 12651278.
  • 4
    Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS. Altered trafficking of lysosomal membrane proteins in Hermansky–Pudlak syndrome due to mutations in the β3A subunit of the AP-3 adaptor complex. Mol Cell 1999;3: 1121.
  • 5
    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: 423427.
  • 6
    Robinson MS, Bonifacino JS. Adaptor-related proteins. Curr Opin Cell Biol 2001;13: 444453.
  • 7
    Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao JI, Frenk E, Tamura N, Spritz RA. Positional cloning of a gene for Hermansky–Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 1996;14: 300306.
  • 8
    Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR. Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet 2001;28: 376380.DOI: 10.1038/ng576
  • 9
    Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank B, Spritz RA. Hermansky–Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet 2002;30: 321324.
  • 10
    Swank RT, Novak EK, McGarry MP, Rusiniak ME, Feng L. Mouse models of Hermansky Pudlak syndrome: a review. Pigment Cell Res 1998;11: 6080.
  • 11
    Gardner JM, Wildenberg SC, Keiper NM, Novak EK, Rusiniak ME, Swank RT, Puri N, Finger JN, Hagiwara N, Lehman AL, Gales TL, Bayer ME, King RA, Brillant MH. The mouse pale ear (ep) mutation is the homologue of human Hermansky–Pudlak syndrome. Proc Natl Acad Sci USA 1997;94: 92389243.
  • 12
    Feng GH, Bailin T, Oh J, Spritz RA. Mouse pale ear (ep) is homologous to human Hermansky–Pudlak syndrome and contains a rare ‘AT-AC’ intron. Hum Mol Genet 1997;6: 793797.
  • 13
    Feng L, Seymour AB, Jiang S, To A, Peden AA, Novak EK, Zhen L, Rusiniak ME, Eicher EM, Robinson MS et al. The beta3A 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: 323330.
  • 14
    Suzuki T, Li W, Zhang Q, Novak EK, Sviderskaya EV, Wilson A, Bennett DC, Roe BA, Swank RT, Spritz RA. The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky–Pudlak syndrome-3 gene. Genomics 2001;78: 3037.
  • 15
    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 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. Neuron 1998;21: 111122.
  • 16
    Detter JC, Zhang Q, Mules EH, Novak EK, Mishra VS, Li W, McMurtrie EB, Tchernev VT, Wallace MR, Seabra MC et al. Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis. Proc Natl Acad Sci USA 2000;97: 41444149.
  • 17
    Huang L, Kuo Y-M, Gitschier J. The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. Nat Genet 1999;23: 329332.
  • 18
    Zhang Q, Li W, Novak EK, Karim A, Mishra VS, Kingsmore SF, Roe BA, Suzuki T, Swank RT. The gene for the muted (mu) mouse, a model for Hermansky–Pudlak syndrome, defines a novel protein which regulates vesicle trafficking. Hum Mol Genet 2002;11: 697706.
  • 19
    Seabra MC, Mules EH, Hume AN. Rab GTPases, intracellular traffic and disease. Trends Mol Med 2002;8: 2330.
  • 20
    McGarry MP, Reddington M, Novak EK, Swank RT. Survival and lung pathology of mouse models of Hermansky–Pudlak syndrome and Chediak–Higashi syndrome. Proc Soc Exp Biol Med 1999;220: 162168.
  • 21
    Lupas A. Coiled coils: new structures and new functions. Trends Biochem Sci 1996;21: 375382.
  • 22
    Dell'Angelica EC, Ooi CE, Bonifacino JS. β3A-adaptin, a subunit of the adaptor-like complex AP-3. J Biol Chem 1997;272: 1507815084.
  • 23
    Dell'Angelica EC, Ohno H, Ooi CE, Rabinovich E, Roche KW, Bonifacino JS. AP-3: an adaptor-like protein complex with ubiquitous expression. EMBO J 1997;15: 917928.
  • 24
    Dell'Angelica EC, Aguilar RC, Wolins N, Hazelwood S, Gahl WA, Bonifacino JS. Molecular characterization of the protein encoded by the Hermansky–Pudlak syndrome type 1 gene. J Biol Chem 2000;275: 13001308.
  • 25
    Klausner RD, Lippincott-Schwartz J, Bonifacino JS. The T cell antigen receptor: insights into organelle biology. Annu Rev Cell Biol 1990;6: 403431.
  • 26
    Zhen L, Jiang S, Feng L, Bright NA, Peden AA, Seymour AB, Novak EK, Elliott R, Gorin MB, Robinson MS, Swank RT. Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse. Blood 1999;94: 146155.
  • 27
    Prekeris R, Klumperman J, Chen YA, Scheller RH. Syntaxin 13 mediates cycling of plasma membrane proteins via tubulovesicular recycling endosomes. J Cell Biol 1998;143: 957971.
  • 28
    Kirchhausen T. Clathrin. Annu Rev Biochem 2000;69: 699727.
  • 29
    Raposo G, Marks MS. The dark side of lysosome-related organelles: specialization of the endocytic pathway for melanosome biogenesis. Traffic 2002;3: 237248.
  • 30
    Raposo G, Tenza D, Murphy DM, Berson JF, Marks MS. Distinct protein sorting and localization to premelanosomes, melanosomes, and lysosomes in pigmented melanocytic cells. J Cell Biol 2001;152: 809824.
  • 31
    Le Borgne R, Alconada A, Bauer U, Hoflack B. The mammalian AP-3 adaptor-like complex mediates the intracellular transport of lysosomal membrane glycoproteins. J Biol Chem 1998;273: 2945129461.
  • 32
    Peden AA, Rudge RE, Lui WW, Robinson MS. Assembly and function of AP-3 complexes in cells expressing mutant subunits. J Cell Biol 2002;156: 327336.
  • 33
    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: 20752085.
  • 34
    Gwynn B, Ciciotte SL, Hunter SJ, Washburn LL, Smith RS, Andersen SG, Swank RT, Dell'Angelica EC, Bonifacino JS, Eicher EM, Peters LL. Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky–Pudlak syndrome by an AP-3-independent mechanism. Blood 2000;96: 42274235.
  • 35
    TerBush DR, Maurice T, Roth D, Novick P. The Exocyst is a multiprotein complex required for exocytosis in Saccharomyces cerevisiae. EMBO J 1996;15: 64836494.
  • 36
    Sacher M, Jiang Y, Barrowman J, Scarpa A, Burston J, Zhang L, Schieltz D, Yates JR, 3rd, Abeliovich H, Ferro-Novick S. TRAPP, a highly conserved novel complex on the cis-Golgi that mediates vesicle docking and fusion. EMBO J 1998;17: 24942503.
  • 37
    Whyte JR, 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 2001;1: 527537.
  • 38
    Ungar D, Oka T, Brittle EE, Vasile E, Lupashin VV, Chatterton JE, Heuser JE, Krieger M, Waters MG. Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. J Cell Biol 2002;157: 405415.
  • 39
    Conibear E, Stevens TH. Vps52p, Vps53p, and Vps54p form a novel multisubunit complex required for protein sorting at the yeast late Golgi. Mol Biol Cell 2000;11: 305323.
  • 40
    Waters MG, Pfeffer SR. Membrane tethering in intracellular transport. Curr Opin Cell Biol 1999;11: 453459.
  • 41
    Falcon-Perez JM, Starcevic M, Gautam R, Dell'Angelica EC. BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet dense granules. J Biol Chem 2002;in press:May 17 [epub ahead of print].