| First Author | Zhang Q | Year | 2003 |
| Journal | Nat Genet | Volume | 33 |
| Issue | 2 | Pages | 145-53 |
| PubMed ID | 12548288 | Mgi Jnum | J:81444 |
| Mgi Id | MGI:2449361 | Doi | 10.1038/ng1087 |
| Citation | Zhang Q, et al. (2003) 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 |
| abstractText | 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. |
