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

Nature genetics | Feb 31, 2003

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 RIS Download

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

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