Article
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.
Nature genetics - 1 Feb 2003
Zhang Qing, Zhao Baohui, Li Wei, Oiso Naoki, Novak Edward K, Rusiniak Michael E, Gautam Rashi, Chintala Sreenivasulu, O'Brien Edward P, Zhang Yuke, Roe Bruce A, Elliott Rosemary W, Eicher Eva M, Liang Ping, Kratz Christian, Legius Eric, Spritz Richard A, O'Sullivan T Norene, Copeland Neal G, Jenkins Nancy A, Swank Richard T
Abstract excerpt
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...
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