Characterization of Melanosomes in Murine Hermansky-Pudlak Syndrome: Mechanisms of Hypopigmentation

Journal of Investigative Dermatology

Volumn 122, Issue 2, 2004, Pages 452-460

  Nguyen, Thuyen ^a   Wei, Maria L ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b SAN FRANCISCO VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

Melanocytes; Organelle biogenesis; Pigmentary glaucoma; Pigmentation

Indexed keywords

ANIMAL CELL; ARTICLE; BIOGENESIS; CELL COUNT; CELL STRAIN; CELL TRANSFER; CONTROLLED STUDY; EXOCYTOSIS; EXPERIMENTAL MODEL; GENETIC DISORDER; GLAUCOMA; HYPOPIGMENTATION; IN VIVO STUDY; KERATINOCYTE; MELANOCYTE; MELANOSOME; MOLECULAR MECHANICS; MORPHOGENESIS; MOUSE; NONHUMAN; OCULAR ALBINISM; PATHOGENESIS; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; STEADY STATE;

EID: 1442323590     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0022-202X.2004.22117.x     Document Type: Article

References (47)

1. Anderson MG, Smith RS, Hawes NL, Zabaleta A, Chang B, Wiggs JL, John SW: Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice. Nat Genet 30:81-85, 2002
2. Anikster Y, Huizing M, White J, et al: Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet 28:376-380, 2001
3. Banta LM, Robinson JS, Klionsky DJ, Emr SD: Organelle assembly in yeast. Characterization of yeast mutants defective in vacuolar biogenesis and protein sorting. J Cell Biol 107:1369-1383, 1988
4. Barral DC, Ramalho JS, Anders R, et al: Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome. J Clin Invest 110:247-257, 2002
5. Berson JF, Harper DC, Tenza D, Raposo G, Marks MS: Pmel17 initiates premelanosome morphogenesis within multivesicular bodies. Mol Biol Cell 12:3451-3464, 2001
6. Berson JF, Theos AC, Harper DC, Tenza D, Raposo G, Marks MS: Proprotein convertase cleavage liberates a fibrillogenic fragment of a resident glycoprotein to initiate melanosome biogenesis. J Cell Biol 161:521-533, 2003
7. Chang B, Smith RS, Hawes NL, et al: Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice. Nat Genet 21:405-409, 1999
8. Chiang PW, Oiso N, Gautam R, Swank RT, Spritz RA: The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. J Biol Chem [epub ahead of print, March 27; DOI: 10.1074/jbc.M300090200], 2003
9. Ciciotte SL, Gwynn B, Moriyama K, Huizing M, Gahl WA, Bonifacino JS, Peters LL: Cappuccino, a mouse model of Hermansky-Pudlak Syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). Blood [DOI: 10.1182/blood-2003-01-0020, February 6], 2003
10. Copeland NG, Hutchison KW, Jenkins NA: Excision of the DBA ecotropic provirus in dilute coat-color revertants of mice occurs by homologous recombination involving the viral LTRs. Cell 33:379-387, 1983
11. Corrigan J (ed.): JAX NOTES. Jackson Laboratory, Bar Harbor, ME. Spring 2002, No. 485, 2002: p. 5
12. 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 3:11-21, 1999
13. Detter JC, Zhang Q, Mules EH, et al: Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis. Proc Natl Acad Sci USA 97:4144-4149, 2000
14. Diggle P, Liang K, Zeger S, Heagerty P: Analysis of Longitudinal Data, 2nd edn. Oxford: Oxford University Press, 2001
15. 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 277:28191-28199, 2002
16. Feng L, Seymour AB, Jiang S, 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 8:323-330, 1999
17. Gardner JM, Wildenberg SC, Keiper NM, et al: The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc Natl Acad Sci USA 94:9238-9243, 1997
18. Huizing M, Anikster Y, Gahl WA: Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: Disorders of vesicle formation and trafficking. Thromb Haemost 86:233-245, 2001
19. Huizing M, Anikster Y, Gahl WA: Hermansky-Pudlak syndrome and related disorders of organelle formation. Traffic 1:823-835, 2000
20. Jackson IJ, Chambers D, Rinchik EM, Bennett DC: Characterization of TRP-1 mRNA levels in dominant and recessive mutations at the mouse brown (b) locus. Genetics 126:451-459, 1990
21. Jenkins NA, Copeland NG, Taylor BA, Lee BK: Dilute (d) coat colour mutation of DBA/2J mice is associated with the site of integration of an ecotropic MuLV genome. Nature 293:370-374, 1981
22. Lyerla TA, Rusiniak ME, Borchers M, et al: Aberrant lung structure, composition and function in a murine model of Hermansky-Pudlak syndrome. Am J Physiol Lung Cell Mol Physiol 285:L643-L653, 2003
23. Marks MS, Seabra MC: The melanosome. Membrane dynamics in black and white. Nat Rev Mol Cell Biol 2:738-748, 2001
24. Martina JA, Moriyama K, Bonifacino JS: BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. J Biol Chem 278:29376-29384, 2003
25. Mercer JA, Seperack PK, Strobel MC, Copeland NG, Jenkins NA: Novel myosin heavy chain encoded by murine dilute coat colour locus. Nature 349:709-713, 1991
26. Moriyama K, Bonifacino JS: Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles. Traffic 3:666-677, 2002
27. Moyer FH: Genetic effects on melanosome fine structure and ontogeny in normal and malignant cells. Ann NY Acad Sci 100:584-606, 1963
28. Nguyen T, Novak EK, Kermani M, Fluhr J, Peters LL, Swank RT, Wei ML: Melanosome morphologies in murine models of Hermansky-Pudlak Syndrome reflect blocks in organelle development. J Invest Dermatol 119:1156-1164, 2002
29. Novak EK, Gautam R, Reddington M, et al: The regulation of platelet-dense granules by Rab27a in the ashen mouse, a model of Hermansky-Pudiak and Griscelli syndromes, is granule-specific and dependent on genetic background. Blood 100:128-135, 2002
30. Oh J, Bailin T, Fukai K, et al: Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 14:300-306, 1996
31. Provance DW Jr, Wei M, Ipe V, Mercer JA: Cultured melanocytes from dilute mutant mice exhibit dendritic morphology and altered melanosome distribution. Proc Natl Acad Sci USA 93:14554-14558, 1996
32. Raposo G, Marks MS: The dark side of lysosome-related organelles: Specialization of the endocytic pathway for melanosome biogenesis. Traffic 3:237-248, 2002
33. 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 152:809-824, 2001
34. Raymond CK, Howald-Stevenson I, Vater CA, Stevens TH: Morphological classification of the yeast vacuolar protein sorting mutants: Evidence for a prevacuolar compartment in class E vps mutants. Mol Biol Cell 3:1389-1402, 1992
35. Rittenhouse E: Genetic effect on fine structure and development of pigment granules in mouse hair bulb melanocytes. I. The b and d loci. Dev Biol 17:351-365, 1968
36. Sarangarajan R, Boissy RE: Tyrp1 and oculocutaneous albinism type 3. Pigment Cell Res 14:437-444, 2001
37. Seiji M, Fitzpatrick T, Simpson R, Birbeck M: Chemical composition and terminology of specialized organelles (melanosomes and melanin granules) in mammalian melanocytes. Nature 197:1082-1084, 1963
38. Suzuki T, Li W, Zhang Q, et al: Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet 30:321-324, 2002
39. Suzuki T, Li W, Zhang Q, et al: The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak Syndrome-3 gene. Genomics 78:30-37, 2001
40. Suzuki T, Oiso N, Gautam R, et al: 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 100:1146-1150, 2003
41. Swank RT, Novak EK, McGarry MP, Rusiniak ME, Feng L: Mouse models of Hermansky-Pudlak Syndrome: A review. Pigment Cell Res 11:60-80, 1998
42. Sweeney JD, Novak EK, Reddington M, Takeuchi KH, Swank RT: The RIIIS/J inbred mouse strain as a model for von Willebrand disease. Blood 76:2258-2265, 1990
43. Wada Y, Ohsumi Y, Anraku Y: Genes for directing vacuolar morphogenesis in Saccharomyces cerevisiae. I. Isolation and characterization of two classes of vam mutants. J Biol Chem 267:18665-18670, 1992
44. Wilson SM, Yip R, Swing DA, et al: A mutation in Rab27a causes the vesicle transport defects observed in ashen mice. Proc Natl Acad Sci USA 97:7933-7938, 2000
45. Wu X, Bowers B, Rao K, Wei Q, Hammer JAR: Visualization of melanosome dynamics within wild-type and dilute melanocytes suggests a paradigm for myosin V function In vivo. J Cell Biol 143:1899-1918, 1998
46. Zdarsky E, Favor J, Jackson IJ: The molecular basis of brown, an old mouse mutation, and of an induced revertant to wild type. Genetics 126:443-449, 1990
47. Zhang Q, Zhao B, Li W, et al: Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak Syndrome types 5 and 6. Nat Genet 33:145-153, 2003