Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.
Nat Genet
; 33(2): 145-53, 2003 Feb.
Article
em En
| MEDLINE
| ID: mdl-12548288
Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous disease involving abnormalities of melanosomes, platelet dense granules and lysosomes. Here we have used positional candidate and transgenic rescue approaches to identify the genes mutated in ruby-eye 2 and ruby-eye mice (ru2 and ru, respectively), two 'mimic' mouse models of HPS. We also show that these genes are orthologs of the genes mutated in individuals with HPS types 5 and 6, respectively, and that their protein products directly interact. Both genes are previously unknown and are found only in higher eukaryotes, and together represent a new class of genes that have evolved in higher organisms to govern the synthesis of highly specialized lysosome-related organelles.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Membrana Transportadoras
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Proteínas
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Proteínas de Insetos
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Síndrome de Hermanski-Pudlak
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Proteínas de Drosophila
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Proteínas Adaptadoras de Transporte Vesicular
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Proteínas de Membrana
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Mutação
Limite:
Adult
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Animals
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2003
Tipo de documento:
Article