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

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Animal, COS-Cells, Cercopithecus-aethiops, Child-Preschool, Chromosomes-Artificial-Bacterial, Chromosomes-Artificial-P1-Bacteriophage, Disease-Models-Animal, Hermanski-Pudlak-Syndrome, Insect-Proteins, Melanosomes, Membrane-Proteins, Mice-Inbred-C57BL, Mice-Mutant-Strains, Molecular-Sequence-Data, Mutation, Peptides, Polymerase-Chain-Reaction, Polymorphism-Single-Stranded-Conformational, Proteins, Proto-Oncogene-Proteins-c-myc, Saccharomyces-cerevisiae, Sequence-Homology-Amino-Acid, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S, Transfection, Two-Hybrid-System-Techniques

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Nat Genet 2003 Feb; 33(2):145-153.


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.