2. Academic Validation
  3. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6

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

  • Nat Genet. 2003 Feb;33(2):145-53. doi: 10.1038/ng1087.
Qing Zhang 1,  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
Affiliations

Affiliation

  • 1 Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263, USA.
PMID: 12548288 DOI: 10.1038/ng1087
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.

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