| Literature DB >> 12548288 |
Qing Zhang1, Baohui Zhao, Wei Li, Naoki Oiso, Edward K Novak, Michael E Rusiniak, Rashi Gautam, Sreenivasulu Chintala, Edward P O'Brien, Yuke Zhang, Bruce A Roe, Rosemary W Elliott, Eva M Eicher, Ping Liang, Christian Kratz, Eric Legius, Richard A Spritz, T Norene O'Sullivan, Neal G Copeland, Nancy A Jenkins, Richard T Swank.
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.Entities:
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Year: 2003 PMID： 12548288 DOI： 10.1038/ng1087
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330