Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6

Qing Zhang, 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. JenkinsRichard T. Swank

Research output: Contribution to journalArticlepeer-review

154 Scopus citations

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 languageEnglish (US)
Pages (from-to)145-153
Number of pages9
JournalNature Genetics
Volume33
Issue number2
DOIs
StatePublished - Feb 1 2003

ASJC Scopus subject areas

  • Genetics

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