Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin

BMC Cell Biology

Volumn 6, Issue , 2005, Pages

  Helip Wooley, Amanda ^a   Westbroek, Wendy ^a   Dorward, Heidi ^a   Mommaas, Mieke ^b   Boissy, Raymond E ^c   Gahl, William A ^a   Huizing, Marjan ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CLATHRIN; HYBRID PROTEIN; CARRIER PROTEIN; GREEN FLUORESCENT PROTEIN; HPS3 PROTEIN, HUMAN;

ARTICLE; BIOGENESIS; CELL ORGANELLE; CELLULAR DISTRIBUTION; CLINICAL FEATURE; CONTROLLED STUDY; CYTOPLASM; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOELECTRON MICROSCOPY; IMMUNOPRECIPITATION; MELANOCYTE; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; PREDICTION; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN TRANSPORT; TEMPERATURE DEPENDENCE; BINDING SITE; CELL CULTURE; CELL NUCLEUS; CHEMISTRY; CYTOLOGY; CYTOPLASM VESICLE; GENETICS; METABOLISM; MUTATION; PHYSIOLOGY;

BINDING SITES; CARRIER PROTEINS; CELL NUCLEUS; CELLS, CULTURED; CLATHRIN; CYTOPLASM; CYTOPLASMIC VESICLES; GREEN FLUORESCENT PROTEINS; HUMANS; IMMUNOPRECIPITATION; MELANOCYTES; MUTATION; PROTEIN BINDING;

EID: 25444443991     PISSN: 14712121     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2121-6-33     Document Type: Article

References (44)

1. Hermansky F, Pudlak P: Albinism associated with hemorrhagic diathesis and unusual pigment reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 1959, 14:162-169.
2. King RA, Hearing VJ, Creel DJ, Oetting WS: Albinism. In The Metabolic and Molecular Bases of Inherited Disease. Volume 4. 8th edition. Edited by Scriver CR, Beaudet AL, Valle DL, and Sly WS. New York: McGraw-Hill; 2001:5587-5627.
3. Huizing M, Anikster Y, Gahl WA: Hermansky-Pudlak syndrome and related disorders of organelle formation. Traffic 2000, 1:823-835.
4. Huizing M, Boissy RE, Gahl WA: Hermansky-Pudlak syndrome: Vesicle formation from yeast to man. Pigment Cell Res 2002, 15:405-419.
5. 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 1982, 93:71-77.
6. Summers CG, Knobloch WH, Witkop CJ, King RA: Hermansky-Pudlak syndrome. Ophthalmic findings. Ophthalmology 1988, 95:545-554.
7. Iwata F, Reed GF, Caruso RC, Kuehl EM, Gahl WA, Kaiser-Kupfer MI: Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism. Ophthalmology 2000, 107:783-789.
8. 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 1987, 26:305-311.
9. 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 1998, 338:1258-1264.
10. Brantly M, Avila NA, Shotelersuk V, Lucero C, Huizing M, Gahl WA: Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. Chest 2000, 117:129-336.
11. 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.
12. Simpson F, Peden AA, Christopoulou L, Robinson MS: Characterization of the adaptor-related protein complex, AP-3. J Cell Biol 1997, 137:835-845.
13. 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 beta-3A subunit of the AP-3 adaptor. Mol Cell 1999, 3:11-21.
14. 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.
15. 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. Nature Immunol 2003, 4:1111-1120.
16. 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. Nature Genet 1996, 14:300-306.
17. 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, 275:1300-1306.
18. 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. Nature Genet 2001, 28:376-380.
19. Huizing M, Anikster Y, Fitzpatrick DL, Jeong AB, D'Souza M, Rausche M, Toro JR, Kaiser-Kupfer MI, White JG, Gahl WA: Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet 2001, 69:1022-1032.
20. 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 RT, Spritz RA: Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nature Genet 2002, 30:321-324.
21. Anderson PD, Huizing M, Claassen DA, White J, Gahl WA: Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum Genet 2003, 113:10-17.
22. Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, et al: Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nature Genet 2003, 33:145-153.
23. 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.
24. 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). Nature Genet 2003, 35:84-89.
25. Martina JA, Moriyama K, Bonifacino JS: BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. J Biol Chem 2003, 278:29376-29384.
26. Nazarian R, Falcon-Perez 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.
27. Novak EK, Sweet HO, Prochazka M, Parentis M, Soble R, Reddington M, Cairo A, Swank RT: Cocoa: a new mouse model for platelet storage pool deficiency. Br J Haematol 1988, 69:371-378.
28. 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, 78:30-37.
29. Dell'Angelica EC, Klumperman J, Stoorvogel W, Bonifacino JS: Association of the AP-3 adaptor complex with clathrin. Science 1998, 280:431-434.
30. ter Haar E, Harrison SC, Kirchhausen T: Peptide-in-groove interactions link target proteins to the b-propeller of clathrin. Proc Natl Acad Sci USA 2000, 97:1096-1100.
31. Kirchhausen T: Clathrin. Annu Rev Biochem 2000, 69:699-727.
32. Dell'Angelica EC: Clathrin-binding proteins: got a motif? Join the network! Trends Cell Biol 2001, 11:315-318.
33. Rappoport J, Simon S, Benmerah A: Understanding living clathrin-coated pits. Traffic 2004, 5:327-337.
34. Ehrlich M, Boll W, Van Oijen A, Hariharan R, Chandran K, Nibert M, Kirchhausen T: Endocytosis by random initiation and stabilization of clathrin-coated pits. Cell 2004, 118:591-605.
35. Matlin KS, Simons K: Reduced temperature prevents transfer of a membrane glycoprotein to the cell surface but does not prevent terminal glycosylation. Cell 1983, 34:233-243.
36. Griffiths G, Pfeiffer S, Simons K, Matlin K: Exit of newly synthesized membrane proteins from the trans cisterna of the Golgi complex to the plasma membrane. J Cell Biol 1985, 101:949-964.
37. Gautam R, Chintala S, Li W, Zhang Q, Tan J, Novak EK, Di Pietro SM, Dell'Angelica EC, Swank RT: The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). J Biol Chem 2004, 279:12935-12942.
38. Di Pietro SM, Falcon-Perez JM, Dell'Angelica EC: Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. Traffic 2004, 5:276-283.
39. Boissy R, Richmond B, Huizing M, Helip-Wooley A, Zhao Y, Koshoffer A, Gahl W: Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. Am J Path 2005, 165:231-240.
40. Naeyaert JM, Eller M, Gordon PR, Park HV, Gilchrest BA: Pigment content of cultured human melanocytes does not correlate with tyrosinase message level. Br J Dermatol 1991, 125:297-303.
41. Smit NP, Kolb RM, Lentjes EG, Noz KC, van der Meulen H, Koerten HK, Vermeer BJ, Pavel S: Variations in melanin formation by cultured melanocytes from different skin types. Arch Dermatol Res 1998, 290:342-349.
42. Westbroek W, Lambert J, Bahadoran P, Roser B, Herteleer MC, Smit N, Mommaas M, Ballotti R, Naeyaert JM: Interactions of human myosin Va isoforms, endogenously expressed in human melanocytes, are tightly regulated by the tail domain. J Invest Dermatol 2003, 120:465-475.
43. Cuppen E, Wijers N, Schepens J, Fransen J, Wieringa B, Hendriks W: A FERM domain governs apical confinement of PTP-BL in epithelial cells. J Cell Sci 1999, 112:3299-3308.
44. Mayhew T: How to count your gold: A tutorial on TEM immunogold label quantification. Micro Anal 2005, 19:9-12 (EU).