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

  1. Author:
    Zhang, Q.
    Zhao, B. H.
    Li, W.
    Oiso, N.
    Novak, E. K.
    Rusiniak, M. E.
    Gautam, R.
    Chintala, S.
    O'Brien, E. P.
    Zhang, Y.
    Roe, B. A.
    Elliott, R. W.
    Eicher, E. M.
    Liang, P.
    Kratz, C.
    Legius, E.
    Spritz, R. A.
    O'Sullivan, T. N.
    Copeland, N. G.
    Jenkins, N. A.
    Swank, R. T.

  2. Author Address

    Roswell Pk Canc Inst, Dept Mol & Cellular Biol, Buffalo, NY 14263 USA Roswell Pk Canc Inst, Dept Mol & Cellular Biol, Buffalo, NY 14263 USA Univ Colorado, Hlth Sci Ctr, Human Med Genet Program, Denver, CO 80262 USA Univ Oklahoma, Dept Chem & Biochem, Norman, OK 73019 USA Jackson Lab, Bar Harbor, ME 04609 USA Roswell Pk Canc Inst, Dept Canc Genet, Buffalo, NY 14263 USA Univ Dusseldorf, Klin Padiat Hamatol & Onkol, D-4000 Dusseldorf, Germany Univ Ziekenhuizen Leuven, Ctr Human Genet, Louvain, Belgium Natl Canc Inst, Mouse Canc Genet Program, Frederick, MD USA Swank RT Roswell Pk Canc Inst, Dept Mol & Cellular Biol, Buffalo, NY 14263 USA
    1. Year: 2003
  2. Journal: Nature Genetics
    1. 33
    2. 2
    3. Pages: 145-153
  4. Type of Article: Article
  1. 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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