Hermansky-Pudlak syndrome and pale ear: Melanosome-making for the millennium

Pigment Cell Research

Volumn 13, Issue 1, 2000, Pages 15-20

  Spritz, Richard A ^a  

^a UNIVERSITY OF COLORADO   (United States)

Author keywords

Hermansky Pudlak syndrome; Melanosome; Organelle; Pale ear

Indexed keywords

ALBINISM; AUTOSOMAL RECESSIVE DISORDER; BLEEDING TENDENCY; CELL MEMBRANE TRANSPORT; CYTOPLASM; GENE MUTATION; GENE PRODUCT; HPS PROTEIN; LYSOSOME STORAGE DISEASE; LYSOSOME; MELANOSOME; MOLECULAR CLONING; OCULAR ALBINISM; PALE EAR; PROTEIN TRANSPORT; THROMBOCYTE;

ALBINISM, OCULOCUTANEOUS; ANIMALS; DISEASE MODELS, ANIMAL; EAR; HUMANS; MELANOSOMES;

EID: 0034072257     PISSN: 08935785     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0749.2000.130104.x     Document Type: Review

References (55)

1. Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow. Blood 1959;14:162-169
2. Spritz RA. Molecular genetics of the Hermansky-Pudlak and Chediak-Higashi syndromes. Platelets 1998;9:21-29
3. Spritz RA. Multi-organellar disorders of pigmentation tied up in traffic. Clin Genet 1999;55:309-317
4. Spritz RA. Multi-organellar disorders of pigmentation: intracellular traffic jams in mammals, flies, and yeast. Trends Genet 1999;15:337-340
5. Bennett D. Genetics, development, and malignancy of melanocytes. Int Rev Cytol 1993;146:191-260
6. Swank RT, Novak EK, McGarry MP, Rusiniak ME, Feng L. Mouse models of Hermansky-Pudlak syndrome: a review. Pigment Cell Res 1998;11:60-80
7. Lloyd V, Ramaswami M, Kramer H. Not just pretty eyes: Drosophila eye-colour mutations and lysosomal delivery. Trends Cell Biol 1998;8:257-259
8. Horazdovsky BF, DeWald DB, Emr SD. Protein transport to the yeast vacuole. Curr Opin Cell Biol 1995;7:544-551
9. Pelham HRB. The Croonian Lecture 1999. Intracellular membrane traffic: getting proteins sorted. Philos Trans R Soc Lond B Biol Sci 1999;354:1471-1478
10. Witkop CJ, Babcock MN, Rao GHR, Gaudier F, Sommers CG, Shanahan F, Harmon KR, Townsend D, Sedano HO, King RA, Cal SX, White JG. Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Assoc Med P Rico 1990;82:333-339
11. Witkop CJ, Almadovar C, Pineiro B, Babcock MN. Hermansky-Pudlak syndrome (HPS). An epidemiologic study. Ophth Paediatr Genet 1990;11:245-250
12. Garay SM, Gardella JE, Fazzini EP, Goldring RM. Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder. Am J Med 1979;6:737-747
13. Schinella RA, Greco MA, Cobert BL, Denmark WL, Cox RP. Hermansky-Pudlak syndrome with granulomatous colitis. Ann Intern Med 1980;92:20-23
14. Frenk E, Lattion F. The melanin pigmentary disorder in a family with Hermansky-Pudlak syndrome. J Investig Dermatol 1982;78:141-143
15. Lattion F, Schneider P, Da Prada M, Lorez HP, Richards JG, Picotti GB, Frenk E. Syndrome d'Hermansky-Pudlak dans un village valaisan. Helv Paediatr Acta 1983;38:495-512
16. Schallreuter KU, Frenk E, Wolfe LS, Witkop CJ, Wood JM. Hermansky-Pudlak syndrome in a Swiss population. Dermatology 1993;187:248-256
17. 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;9:1037-1048
18. White JG, Edson JR, Desnick SJ, Witkop CJ Jr. Studies of platelets in a variant of the Hermansky-Pudlak syndrome. Am J Pathol 1971;63:319-332
19. Hardisty RM, Mills CB, Ketsa-Ard K. The platelet defect associated with albinism. Br J Haematol 1972;23:679-692
20. Holmsen H, Weiss HJ. Secretable storage pool in platelets. Blood 1972;39:197-209
21. Logan LJ, Rapaport SI, Maher I. Albinism and abnormal platelet function. New Engl J Med 1979;284:1340-1345
22. Holmsen H, Weiss HJ. Further evidence for a deficient storage pool of adenine nucleotides in platelets from some patients with thrombocytopathia 'storage pool disease'. Annu Rev Med 1979;30:119-134
23. Fukami MH. Isolation of dense granules from human platelets. Meth Enzymol 1992;169B:36-42
24. White JG, Wilkop CJ, Gerritson SM. The Hermansky-Pudlak syndrome: ultrastructure of bone marrow macrophages. Am J Path 1973;70:329-344
25. Schinella RA, Greco MA, Garay SM, Lackner H, Wolman SR, Fazzini EP. Hermansky-Pudlak syndrome: a clinicopathologic study. Hum Pathol 1985;16:366-376
26. Harmon KR, Witkop CJ, White JG, King RA, Peterson M, Moore D, Tashjian J, Marinelli WA, Bitterman PB. Pathogenesis of pulmonary fibrosis: Platelet derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome. J Lab Clin Med 1994;123:617-627
27. Witkop CJ Jr, Bowie EJW, Krumwiede MD, Swanson JL, Plumhoff EA, White JG. Synergistic effect of storage pool deficient platelets and low plasma von Willebrand factor on the severity of the hemorrhagic diathesis in Hermansky-Pudlak syndrome. Am J Hemat 1993;44:256-259
28. Weiss HJ, Meyer D, Rabinowitz R, Pietu G, Girma J-P, Vicic WJ, Rogers J. Pseudo-von Willebrand's disease: an intrinsic platelet defect with aggregation by unmodified human factor VIII-von Willebrand factor and enhanced adsorption of its high-molecular-weight multimers. New Engl J Med 1982;306:326-333
29. McKeown LP, Hansmann KE, Wilson O, Gahl W, Gralnick HR, Rosenfeld KE, Rosenfeld SJ, Horne MK, Rick ME. Platelet von willebrand factor in Hermansky Pudlak syndrome. Am J Hematol 1998;59:115-120
30. Fukai K, Oh. J, Frenk E, Almodovar C, Spritz RA. Linkage disequilibrium mapping of the gene for Hermansky Pudlak syndrome to chromosome 10q23.1 q23.3. Hum Mol Genet 1995;4:1665-1669
31. Wildenberg SC, Getting WS, Almodovar C, Krumwiede M, White JG, King RA. A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2. Am J Hum Genet 1995;57:755-765
32. Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao J, Frenk E, Tamura N, Spritz RA. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nature Genet 1996;14:300-306
33. Bailin T, Oh J, Feng GH, Fukai K, Spritz RA. Organization and nucleotide sequence of the human Hermansky Pudlak syndrome (HPS) gene. J Investig Derm 1997;108:923-927
34. Wildenberg SC, Fryer JP, Gardner JM, Getting WS, Brilliant MH, King RA. Identification of a novel transcript produced by the gene responsible for the Hermansky Pudlak syndrome in Puerto Rico. J Invest Dermatol 1998;110:777-781
35. Oh J, Ho L, Ala-Mello S, Amato D, Armstrong L, Bellucci S, Carakushansky G, Ellis JP, Fong C-T, Green JS, Heon E, Legius E, Levin AV, Niewenhuis HK, Pinckers A, Tamura N, Whiteford ML, Yamasaki H, Spritz RA. Mutation analysis of patients with Hermansky-Pudlak syndrome defines a frameshift hotspot in the HPS gene as well as apparent locus heterogeneity. Am J Hum Genet 1998;62:593-598
36. Spritz RA, Oh J. (Letter). Mol Genet Metab 1998;65:254
37. Spritz RA, Oh J. HPS gene mutations in Hermansky-Pudlak syndrome. Am J Hum Genet 1999;64:658-659
38. Shotelersuk V, Hazelwood S, Larson D, Iwata F, Kaiser-Kupfer MI, Kuehl E, Bernardini I, Gahl WA. Three new mutations in a gene causing Hermansky Pudlak syndrome: Clinical correlations. Mol Genet Metab 1998;64:99-107
39. Hazelwood S, Shotelersuk V, Wildenberg SC, Chen D, Iwata F, Kaiser-Kupfer MI, White JG, King RA, Gahl WA. Evidence for locus heterogeneity in Puerto Ricans with Hermansky Pudlak syndrome. Am J Hum Genet 1997;61:1088-1094
40. Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Troendle J, Bernardini I. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). New Engl J Med 1998;338:1258-1264
41. 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 (3A subunit of the AP-3 adaptor. Mol Cell 1999;3:1-20
42. 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;6:793-797
43. 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, Brilliant MH. The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc Natl Acad Sci USA 1997;94:9238-9243
44. Kantheti P, Qiao X, Diaz ME, Peden AA, Meyer GE, Carskadon SL, Kapfhamer D, Sufalko D, Robinson MS, Noebels JL, Burmeister M. Mutation of AP-3 δ in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. Neuron 1998;21:111-122
45. Ooi CE, Moreira JE, Dell'Angelica EC, Poy G, Wassarman DA, Bonifacino JS. Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet. EMBO J 1997;16:4508-4518
46. Simpson F, Peden AA, Christopoulou L, Robinson MS. Characterization of the adaptor-related protein complex, AP-3. J Cell Biol 1997;137:835-845
47. 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;16:917-928
48. Kirchhausen T, Bonifacino JS, Riezman H. Linking cargo to vesicle formation: receptor tail interactions with coat proteins. Curr Opin Cell Biol 1997;9:488-495
49. Robinson MS. Coats and vesicle budding. Trends Cell Biol 1997;7:99-102
50. Le Borgne R, Hoflack B. Mechanisms of protein sorting and coat assembly: insights from the clathrin-coated vesicle pathway. Curr Opin Cell Biol 1998;10:499-503
51. Odorizzi G, Cowles CR, Emr SD. The AP-3 complex: a coat of many colours. Trends Cell Biol 1998;8:282-288
52. Feng L, Seymour AB, Jiang S, To A, Peden AA, Novak EK, Zhen L, Rusiniak ME, Eicher EM, Robinson MS, Gorin MB, Swank RT. 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;8:323-330
53. Huang L, Kuo Y-M, Gitschier J. The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. Nature Genet 1999;23:329-332
54. Deller JC, Zhang Q, Mules E, Novak E, Mishra V, Wallace M, Seabra M, Swank R, Kingsmore S. Positional cloning of the gunmetal mouse mutation. Mol Biol Cell 1999;10, Suppl:108a
55. Oh J, Lui Z-X, Feng GH, Raposo G, Spritz RA. The Hermansky Pudlak syndrome (HPS) protein is part of a high-molecular weight complex involved in biogenesis of early melanosomes. Hum Mol Genet 2000;9:375-385