Hermansky-Pudlak HPS1/pale ear gene regulates epidermal and dermal melanocyte development

Journal of Investigative Dermatology

Volumn 127, Issue 2, 2007, Pages 421-428

  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

[No Author keywords available]

Indexed keywords

MONOPHENOL MONOOXYGENASE; PALE EAR PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; BIOGENESIS; CELL COUNT; CELL FUNCTION; CELL MATURATION; CELL MUTANT; CONTROLLED STUDY; CYTOLOGY; ENZYME ACTIVITY; EPIDERMIS CELL; GENE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC REGULATION; HERMANSKY PUDLAK SYNDROME GENE; IMMATURITY; MELANOCYTE; MELANOSOME; MOUSE; NONHUMAN; PALE EAR GENE; PHENOTYPE; PRIORITY JOURNAL; SKIN CELL; TAIL;

ANIMALS; ANIMALS, NEWBORN; CELL COUNT; CELL DIVISION; DERMIS; EPIDERMIS; GROWTH; HERMANSKI-PUDLAK SYNDROME; MELANOCYTES; MELANOSOMES; MEMBRANE PROTEINS; MICE; MICE, MUTANT STRAINS; MONOPHENOL MONOOXYGENASE; SKIN PIGMENTATION; TAIL; TIME FACTORS;

EID: 33846249986     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5700566     Document Type: Article

References (18)

1. Bailin T, Oh J, Feng GH, Fukai K, Spritz RA (1997) Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. J Invest Dermatol 108:923-7
2. Chiang PW, Bennett DC, Spritz RA (2005) BLOC3 affects the cytoskeleton of the secretory pathway. Pigment Cell Res 18(Suppl 1): 16 (Abstract: OP16)
3. Chiang PW, Oiso N, Gautam R, Suzuki T, Swank RT, Spritz RA (2003) 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 278:20332-7
4. Fitch KR, McGowan KA, van Raamsdonk CD, Fuchs H, Lee D, Puech A et al. (2003) Genetics of dark skin in mice. Genes Dev 17:214-28
5. Gardner JM, Wildenberg SC, Keiper NM, Novak EK, Rusiniak ME, Swank RT et al. (1997) The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc Natl Acad Sci USA 94:9238-43
6. Horikawa T, Norris DA, Johnson TW, Zekman T, Dunscomb N, Bennion SD et al. (1996) DOPA-negative melanocytes in the outer root sheath of human hair follicles express premelanosomal antigens but not a melanosomal antigen or the melanosome-associated glycoproteins tyrosinase, TRP-1, and TRP-2. J Invest Dermatol 106:28-35
7. Knapp AC, Franke WW, Heid H, Hatzfeld M, Jorcano JL, Moll R (1986) Cytokeratin no. 9, an epidermal type I keratin characteristic of a special program of keratinocyte differentiation displaying body site specificity. J Cell Biol 103:657-67
8. Lane PW, Green EL (1967) Pale ear and light ear in the house mouse. Mimic mutations in linkage groups XII and XVII. J Hered 58:17-20
9. Martina JA, Moriyama K, Bonifacino JS (2003) BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. J Biol Chem 278:29376-84
10. Michel M, Torok N, Godbout MJ, Lussier M, Gaudreau P, Royal A et al. (1996) Keratin 19 as a biochemical marker of skin stem cells in vivo and in vitro: keratin 19 expressing cells are differentially localized in function of anatomic sites, and their number varies with donor age and culture stage. J Cell Sci 109(Part 5):1017-28
11. Moll I, Heid H, Franke WW, Moll R (1987) Distribution of a special subset of keratinocytes characterized by the expression of cytokeratin 9 in adult and fetal human epidermis of various body sites. Differentiation 33:254-65
12. Nazarian R, Falcon-Perez JM, Dell'Angelica EC (2003) 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 100:8770-5
13. Nguyen T, Novak EK, Kermani M, Fluhr J, Peters LL, Swank RT et al. (2002) Melanosome morphologies in murine models of Hermansky-Pudlak syndrome reflect blocks in organelle development. J Invest Dermatol 119:1156-64
14. Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao JI et al. (1996) Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 14:300-6
15. Richmond B, Huizing M, Knapp J, Koshoffer A, Zhao Y, Gahl WA et al. (2005) Melanocytes derived from patients with Hermansky-Pudlak syndrome types 1, 2, and 3 have distinct defects in cargo trafficking. J Invest Dermatol 124:420-7
16. Swank RT, Novak EK, McGarry MP, Rusiniak ME, Feng L (1998) Mouse models of Hermansky-Pudlak syndrome: a review. Pigment Cell Res 11:60-80
17. Tomita Y, Suzuki T (2004) Genetics of pigmentary disorders. Am J Med Genet C Semin Med Genet 131C:75-81
18. Wei ML (2006) Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res 19:19-42