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

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.

Pubmed ID: 12548288


  • Zhang Q
  • Zhao B
  • Li W
  • Oiso N
  • Novak EK
  • Rusiniak ME
  • Gautam R
  • Chintala S
  • O'Brien EP
  • Zhang Y
  • Roe BA
  • Elliott RW
  • Eicher EM
  • Liang P
  • Kratz C
  • Legius E
  • Spritz RA
  • O'Sullivan TN
  • Copeland NG
  • Jenkins NA
  • Swank RT


Nature genetics

Publication Data

February 31, 2003

Associated Grants


Mesh Terms

  • Adaptor Protein Complex 3
  • Adaptor Protein Complex beta Subunits
  • Adaptor Proteins, Vesicular Transport
  • Adult
  • Amino Acid Sequence
  • Animals
  • COS Cells
  • Cercopithecus aethiops
  • Child, Preschool
  • Chromosomes, Artificial, Bacterial
  • Chromosomes, Artificial, P1 Bacteriophage
  • Disease Models, Animal
  • Drosophila Proteins
  • Female
  • Hermanski-Pudlak Syndrome
  • Humans
  • Insect Proteins
  • Male
  • Melanosomes
  • Membrane Proteins
  • Membrane Transport Proteins
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Molecular Sequence Data
  • Mutation
  • Oligopeptides
  • Peptides
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Proteins
  • Proto-Oncogene Proteins c-myc
  • Saccharomyces cerevisiae
  • Sequence Homology, Amino Acid
  • Transfection
  • Two-Hybrid System Techniques