Ultrastructural features of trafficking defects are pronounced in melanocytic nevus in Hermansky-Pudlak syndrome type 1

Journal of Investigative Dermatology

Volumn 125, Issue 1, 2005, Pages 154-158

  Natsuga, Ken ^a   Akiyama, Masashi ^a   Shimizu, Tadamichi ^a   Suzuki, Tamio ^b   Ito, Shiro ^b   Tomita, Yasushi ^b   Tanaka, Junji ^a   Shimizu, Hiroshi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Chediak Higashi syndrome; Melanocyte; Vesicle formation

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL ULTRASTRUCTURE; CHEDIAK HIGASHI SYNDROME; CONTROLLED STUDY; ELECTRON MICROSCOPY; FEMALE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MELANOCYTE; MELANOCYTIC NEVUS; MELANOSOME; MEMBRANE VESICLE; OCULAR ALBINISM; PRIORITY JOURNAL; PROTEIN TRANSPORT; SYNDROME DELINEATION;

EID: 22144449246     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1111/j.0022-202X.2005.23743.x     Document Type: Article

References (30)

1. 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
2. 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
3. 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 78:1037-1048, 1998
4. Dell'Angelica EC, Shotelersuk V, Aguilar RC, et al: Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the 3A subunit of the AP-3 adaptor. Mol Cell 3:11-21, 1999
5. Frenk E, Lattion F: The melanin pigmentary disorder in a family with Hermansky-Pudlak syndrome. J Invest Dermatol 78:141-143, 1982
6. 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 4:1665-1669, 1995
7. 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
8. Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA: Hermansky-Pudlak syndrome type 1: Gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. Hum Mutat 20:482, 2002
9. Horikawa T, Araki K, Fukai K, Ueda M, Ueda T, Ito S, Ichihashi M: Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes. Br J Dermatol 143:635-640, 2000
10. 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
11. Huizing M, Gahl WA: Disorders of vesicles of lysosomal lineage: The Hermansky-Pudlak syndromes. Curr Mol Med 2:451-467, 2002
12. Husain S, Marsh E, Saenz-Sarttamaria MC, McNutt NS: Hermansky-Pudlak syndrome: Report of a case with histological, immunohistochemical and ultrastructural findings. J Cutan Pathol 25:380-385, 1998
13. Lattion F, Schneider P, Da Prada M, Lorez HP, Richards JG, Picotti GB, Frenck E: Hermansky-Pudlak syndrome in a Valais village. Helv Paediatr Acta 38:495-512, 1983
14. Li W, Zhang Q, Oiso N, 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). Nat Genet 35:84-89, 2003
15. Marks MS, Seabra MC: The melanosome: Membrane dynamics in black and white. Nat Mol Rev Cell Biol 2:738-748, 2001
16. Nguyen T, Wei ML: Characterization of melanosomes in murine Hermansky-Pudlak syndrome: Mechanisms of hypopigmentation. J Invest Dermatol 122:452-460, 2004
17. Getting WS, King RA: Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat 13:99-115, 1999
18. 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
19. Oh J, Ho L, Ala-Mello S, et al: 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
20. Perry TB, Holbrook KA, Hoff MS, Hamilton EF, Senikas V, Fisher C: Prenatal diagnosis of congenital nonbullous ichthyosiform erythroderma (lamellar ichthyosis). Prenat Diag 7:145-155, 1987
21. Reynolds ES: The use of lead citrate at high pH as an electron-opaque stain in electron microscopy. J Cell Biol 17:208-212, 1963
22. Richardson KC, Jarett L, Finke EH: Embedding in epoxy resins for ultrathin sectioning in electron microscopy. Stain Technol 35:313-323, 1960
23. Schallreuter KU, Frenk E, Wolfe LS, Witkop CJ, Wood JM: Hermansky-Pudlak syndrome in a Swiss population. Dermatol 187:248-256, 1993
24. Spritz RA, Holmes SA, Ramesar R, Greenberg J, Curtis D, Beighton P: Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism. Am J Hum Genet 51:1058-1065, 1992
25. Suzuki T, Ito S, Inagaki K, Suzuki N, Tomita Y, Yoshino M, Hashimoto T: Investigation on the IVS5 + 5G → A splice site mutation of HPS1 gene found in Japanese patients with Hermansky-Pudlak syndrome. J Dermatol Sci 36:106-8, 2004
26. 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
27. 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 57:755-765, 1995
28. Witkop CJ Jr, Hill CW, Desnick S, et al: Ophthalmologic, biochemical, platelet, and ultrastructural defects in the various types of oculocutaneous albinism. J Invest Dermatol 60:443-456, 1973
29. Zelickson AS, Windhorst DB, White JG, Good RA: The Chediak-Higashi syndrome: Formation of giant melanosomes and the basis of hypopigmentation. J Invest Dermatol 49:575-580, 1967
30. 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