Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development.
J Invest Dermatol
; 119(5): 1156-64, 2002 Nov.
Article
em En
| MEDLINE
| ID: mdl-12445206
ABSTRACT
Hermansky-Pudlak syndrome is an autosomal recessive disease characterized by pigment dilution and prolonged bleeding time. At least 15 mutant mouse strains have been classified as models of Hermansky-Pudlak syndrome. Some of the genes are implicated in intracellular vesicle trafficking budding, targeting, and secretion. Many of the Hermansky-Pudlak syndrome genes remain uncharacterized and their functions are unknown. Clues to the functions of these genes can be found by analyzing the physiologic and cellular phenotypes. Here we have examined the morphology of the melanosomes in the skin of 10 of the mutant mouse Hermansky-Pudlak syndrome strains by transmission electron microscopy. We demonstrate that the morphologies reflect inhibition of organelle maturation or transfer. The Hermansky-Pudlak syndrome strains are classified into morphologic groups characterized by the step at which melanosome biogenesis or transfer to keratinocytes is inhibited, with the cappuccino strain observed to be blocked at the earliest step and gunmetal blocked at the latest step. We show that all Hermansky-Pudlak syndrome mutant strains except gunmetal have an increase in unpigmented or hypopigmented immature melanosomal forms, leading to the hypopigmented coat colors seen in these strains. In contrast, the hypopigmentation seen in the gunmetal strain is due to the retention of melanosomes in melanocytes, and inefficient transfer into keratinocytes.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Pele
/
Pigmentação da Pele
/
Melanossomas
/
Síndrome de Hermanski-Pudlak
Limite:
Animals
Idioma:
En
Revista:
J Invest Dermatol
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Estados Unidos