Abstract
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.
Original language | English (US) |
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Pages (from-to) | 145-153 |
Number of pages | 9 |
Journal | Nature Genetics |
Volume | 33 |
Issue number | 2 |
DOIs | |
State | Published - Feb 1 2003 |
ASJC Scopus subject areas
- Genetics