Hermansky-Pudlak syndrome: Models for intracellular vesicle formation

Molecular Genetics and Metabolism

Volumn 65, Issue 2, 1998, Pages 85-96

  Shotelersuk, Vorasuk ^a   Gahl, William A ^a,b  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

Albinism; Ceroid lipofuscin; Membrane fusion; Platelet storage pool deficiency; Vesicle trafficking

Indexed keywords

DESMOPRESSIN; LIPOFUSCIN; MESSENGER RNA; STEROID;

AUTOSOMAL RECESSIVE DISORDER; BLEEDING TENDENCY; CHROMOSOME 10Q; DENSE BODY; HUMAN; HYPOPIGMENTATION; LYSOSOME; MELANOSOME; MEMBRANE VESICLE; MOUSE; MOUSE STRAIN; MUTATION; NONHUMAN; NYSTAGMUS; OCULAR ALBINISM; PRIORITY JOURNAL; PUERTO RICO; REVIEW; THROMBOCYTE; VISUAL IMPAIRMENT;

EID: 0032191713     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1998.2729     Document Type: Article

References (62)

1. 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 14:162-169, 1959.
2. 2. Witkop CJ, Quevedo WC, Fitzpatrick TB, King RA. Albinism. In The Metabolic Basis of Inherited Disease (Scriver CR, Beaudet AL, Sly WS, Valle DL, Eds.) 6th ed. New York: McGraw-Hill, Vol 2, pp 2905-2947, 1989.
3. 3. King RA, Hearing VJ, Creel DJ, Oetting WS. Albinism. In The Metabolic and Molecular Bases of Inherited Disease (Scriver CR, Beaudet AL, Sly WS, Valle DL, Eds.). 7th ed. New York: McGraw-Hill, Vol 3, pp 4353-4392, 1995.
4. 4. Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao J-i, Frenk E, Tamura N, Spritz RA. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nature Genet 14:300-306, 1996.
5. 5. 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 94:9238-9243, 1997.
6. 6. 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 6:793-979, 1997.
7. 7. 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 61:1088-1094, 1997.
8. 8. 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 Gen Metab 64: 99-107, 1998.
9. 9. 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, Nieuwenhuis HK, Pinckers A, Tamura N, Whiteford ML, Yamasaki H, Spritz RA. Mutation analysis of patients with Hermansky-Pudlak syndrome: A frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet 62:593-598, 1998.
10. 10. Witkop CJ, Babcock MN, Rao GHR, Gaudier F, Summers CG, Shanahan F, Harmon KR, Townsend DW, Sedano HO, King RA, Cal SX, White JG. Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med P Rico Agosto 82:333-339, 1990.
11. 11. Lattion F, Schneider PH, DaPrada M, Lorez HP, Richards JG, Picotti GB, Frenck E. Syndrome d'Hermansky-Pudlak dans un village valaisan. Helv Paediat Acta 38:495-512, 1983.
12. 12. Schallreuter KU, Frenk E, Wolfe LS, Witkop CJ, Wood JM. Hermansky-Pudlak Syndrome in a Swiss population. Dermatology 187:248-256, 1993.
13. 13. 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). N Engl J Med 338:1258-1264, 1998.
14. 14. Simon JW, Adams RJ, Calhoun JH, Shapiro SS, Ingerman CM. Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis). Am J Ophthalmol 93:71-77, 1982.
15. 15. Summers CG, Knobloch WH, Witkop CJ, King RA. Hermansky-Pudlak Syndrome: Ophthalmic findings. Ophthalmology 95:545-554, 1988.
16. 16. Witkop CJ, Krumwiede M, Sedano H, White JG. Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome. Am J Hematol 26:305-311, 1987.
17. 17. Witkop CJ, Wolfe LS, Cal SX, White JG, Townsend D, Keenan KM. Elevated urinary dolichol excretion in the Hermansky-Pudlak syndorme: Indicator of lysosomal dysfunction. Am J Med 82:463-470, 1987.
18. 18. Witkop CJ Jr, White JG, Townsend D, Sedano HO, Cal SX, Babcock M, Krumwiede M, Keenan K, Love JE, Wolfe LS. Ceroid storage disease in Hermansky-Pudlak syndrome: Induction in animal models. In Lipofuscin - 1987: State of the Art (Zs.-Nasy I, Ed.). Amsterdam: Elsevier, p 413, 1988.
19. 19. Garay SM, Gardella JE, Fazzini EP, Goldring RM. Hermansky-Pudlak Syndrome: Pulmonary manifestations of a ceroid storage disorder. Am J Med 66:737-747, 1979.
20. 20. 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 123:617-627, 1994.
21. 21. Takahashi A, Yokoyama T. Hermansky-Pudlak syndrome with special reference to lysosomal dysfunction: a case report and review of the literature. Virchos Arch A Pathol Anat Histopathol 402:247-258, 1984.
22. 22. Hostre P, Willems J, Devriendt J, Lamont H, van der Straeten M. Familial diffuse interstitial pulmonary fibrosis associated with oculocutaneous albinism: Report of two cases with a family study. Scand J Respir Dis 60:128-134, 1979.
23. 23. Davies BH, Tuddenham EGD. Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect: A new syndrome. Q J Med 45:219-232, 1976.
24. 24. Schinella RA, Greco MA, Cobert BL, Denmark LW, Cox RP. Hermansky-Pudlak syndrome with granulomatous colitis. Ann Intern Med 92:20-23, 1980.
25. 25. Mahadeo R, Markowitz J, Fisher S, Daum F. Hermansky-Pudlak syndrome with granulomatous colitis in children. J Pediatr 118:904-906, 1991.
26. 26. Shanahan F, Randolph L, King R, Oseas R, Brogan M, Witkop C, Rotter J, Targan. Hermansky-Pudlak syndrome: An immunologic assessment of 15 cases. Am J Med 85:823-828, 1988.
27. 27. Van Dorp DB, Wijermans PW, Meire F, Vrensen G. The Hermansky-Pudlak syndrome: Variable reaction to 1-desamino-8D-arginine vasopressin for correction of the bleeding time. Ophthal Paediatr Genet 11:237-244, 1990.
28. 28. Wildenberg SC, Oetting 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 57:755-765, 1995.
29. 29. Fukai K, Oh J, Frenk E, Almodovar C, Spritz RA. Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-23.3. Hum Mol Genet 4:1665-1669, 1995.
30. 30. Bailin T, Oh J, Feng GH, Fukai K, Spritz RA. Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. J Invest Dermatol 108:923-927, 1997.
31. 31. Sharp PA, Burge CB. Classification of introns: U2-type or U12-type. Cell 91:875-879, 1997.
32. 32. Wildenberg SC, Fryer JP, Gardner JM, Oetting 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 110:777-781, 1998.
33. 33. Barbosa MDFS, Nguyen QA, Tchemev VT, Ashley JA, Detter JC, Blaydes SM, Brandt SJ, Chotai D, Hodgman C, Solari RCE, Lovett M, Kingsmore SF. Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 382:262-265, 1996.
34. 34. Griffiths GM. Secretory lysosomes - A special mechanism of regulated secretion in haemopoietic cells. Trends Cell Biol 6:329-332, 1996.
35. 35. Ramsay M. Protein trafficking violations. Nature Genet 14: 242-245, 1996.
36. 36. Jackson IJ. Homologous pigmentation mutations in human, mouse and other model organisms. Hum Mol Genet 6:1613-1624, 1997.
37. 37. Novak EK, Hui S-W, Swank RT. Platelet storage pool deficiency in mouse pigment mutations associated with several distinct genetic loci. Blood 63:536-544, 1984.
38. 38. Swank RT, Novak EK, McGarry MP, Rusiniak ME, Feng L. Mouse models of Hemansky Pudlak syndrome: A review. Pigment Cell Res 11: 60-80, 1998.
39. 39. Roberts E. A new mutation in the house mouse (Mus musculus). Science 74:569, 1931.
40. 40. Peters LL, Gwynn B, Hunter SJ, Ciciotte SL, Eicher EM. Characterization and chromosomal localization of cappuccino, a new murine platelet storage pool deficiency (SPD) mutation. Mol Biol Cell 7:146a, 1996.
41. 41. Seymour AB, Feng L, Novak EK, Robinson MS, Swank RT, Gorin MB. A candidate gene for the mouse pearl (pe) mutation which affects subcellular organelles. Mol Biol Cell 8:227A, 1997.
42. 42. Kantheti P, Meyer GE, Carskadon SL, Gibson K, Kapfhamer D, Sufalko DS, Burmeister M. Mutations in an Adaptor-complex subunit explain the mouse mutant mocha. Implications for platelet storage pool deficiencies. Am J Hum Genet 61S:A336, 1997.
43. 43. Nishibori M, Cham B, McNicol A, Shalev A, Jain N, Gerrard JM. The protein CD63 is in platelet dense granules, is deficient in a patient with Hermansky-Pudlak Syndrome, and appears identical to granulophysin. J Clin Invest 91:1775-1782, 1993.
44. 44. Hotta H, Ross AH, Huebner K, Isobe M, Wendeborn S, Chao MV, Ricciardi RP, Tsujimoto Y, Croce CM, Koprowski H. Molecular cloning and characterization of an antigen associated with early stages of melanoma tumor progression. Cancer Res 48:2955-2962, 1988.
45. 45. Hunziker W, Geuze HJ. Intracellular trafficking of lysosomal membrane proteins. BioEssays 18:379-389, 1996.
46. 46. Simpson F, Peden AA, Christopoulou L, Robinson MS. Characterization of the adaptor-related protein complex, AP-3. J Cell Biol 137:835-845, 1997.
47. 47. Emr SC, Malhotra V. Membranes and sorting. Curr Opin Cell Biol 9:475-476, 1997.
48. 48. Heilker R, Manning-Krieg U, Zuber J-F, Spiess M. In vitro binding of clathrin adaptors to sorting signals correlates with endocytosis and basolateral sorting. EMBO J 15:2893-2899, 1996.
49. 49. Roth MG, Sternweis PC. The role of lipid signaling in constitutive membrane traffic. Curr Opin Cell Biol 9:519-526, 1997.
50. 50. Harder T, Simons K. Caveolae, DIGs, and the dynamics of sphingolipid-cholesterol microdomains. Curr Opin Cell Biol 9:534-542, 1997.
51. 51. Goldstein JL, Anderson RGW, Brown MS. Coated pits, coated vesicles, and receptor-mediated endocytosis. Nature 279:679-685, 1979.
52. 52. Simpson F, Bright NA, West MA, Newman LS, Darnell RB, Robinson MS. A novel adaptor-related protein complex. J Cell Biol 133:749-760, 1996.
53. 53. Dell'Angelica EC, Ooi CE, Bonifacino JS. β3A-adaptin, a subunit of the adaptor-like complex AP-3. J Biol Chem 272: 15078-15084, 1997.
54. 54. 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 16:917-928, 1997.
55. 55. Cowles CR, Odorizzi G, Payne GS, Emr SD. The AP-3 adaptor complex is essential for cargo-selective transport to the yeast vacuole. Cell 91:109-118, 1997.
56. 56. Ohno H, Stewart J, Fournier M-C, Bosshart H, Rhee I, Miyatake S, Saito T, Gallusser A, Kirchhausen T, Bonifacino JS. Interaction of tyrosine-based sorting signals with clathrin-associated proteins. Science 269:1872-1875, 1995.
57. 57. Hay JC, Scheller RlH. SNAREs and NSF in targeted membrane fusion. Curr Opin Cell Biol 9:505-512, 1997.
58. 58. Novick P, Zerial M. The diversity of Rab proteins in vesicle transport. Curr Opin Cell Biol 9:496-504, 1997.
59. 59. van Bokhoven H, van den Hurk JAJM, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FPM. Cloning and characterization of the human choroideremia gene. Hum Mol Genet 3:1041-1046, 1994.
60. 60. Cremers FPM, Armstrong SA, Seabra MC, Brown MS, Goldstein JL. REP-2, a Rab escort protein encoded by the choroideremia-like gene. J Biol Chem 269:2111-2117, 1994.
61. 61. Iyer SN, Wild JS, Schiedt MJ, Hyde DM, Margolin SB, Giri SN. Dietary intake of pirfenidone ameliorates bleomycin-induced lung fibrosis in hamsters. J Lab Clin Med 125:779-785, 1995.
62. 62. Fields S, Song O-k. A novel genetic system to detect protein-protein interactions. Nature 340:245-246, 1989.