Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6
Copyright policy )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.
- Heinrich Heine University Düsseldorf Germany
- Universitair Ziekenhuis Leuven Belgium
- National Cancer Institute United States
- University of Colorado Anschutz Medical Campus United States
- Roswell Park Cancer Institute United States
Adult, Male, Polymerase-Chain-Reaction, Chromosomes, Artificial, Bacterial, Hermanski-Pudlak-Syndrome, Adaptor Protein Complex 3, COS-Cells, Saccharomyces-cerevisiae, Insect-Proteins, Transfection, Polymorphism-Single-Stranded-Conformational, Cercopithecus-aethiops, SUPPORT-U-S-GOVT-P-H-S, 616, Chlorocebus aethiops, Membrane-Proteins, Animals, Drosophila Proteins, Humans, Chromosomes-Artificial-Bacterial, Adaptor Protein Complex beta Subunits, Amino Acid Sequence, Proto-Oncogene-Proteins-c-myc, SUPPORT-NON-U-S-GOVT, Mice-Mutant-Strains, Molecular-Sequence-Data, Melanosomes, Animal, Chromosomes, Artificial, P1 Bacteriophage, Mice-Inbred-C57BL, Proteins, Membrane Proteins, Sequence-Homology-Amino-Acid, Two-Hybrid-System-Techniques, Adaptor Proteins, Vesicular Transport, Disease Models, Animal, Hermanski-Pudlak Syndrome, Chromosomes-Artificial-P1-Bacteriophage, Child, Preschool, Mutation, COS Cells, Insect Proteins, Child-Preschool, Female, Disease-Models-Animal, Peptides
Adult, Male, Polymerase-Chain-Reaction, Chromosomes, Artificial, Bacterial, Hermanski-Pudlak-Syndrome, Adaptor Protein Complex 3, COS-Cells, Saccharomyces-cerevisiae, Insect-Proteins, Transfection, Polymorphism-Single-Stranded-Conformational, Cercopithecus-aethiops, SUPPORT-U-S-GOVT-P-H-S, 616, Chlorocebus aethiops, Membrane-Proteins, Animals, Drosophila Proteins, Humans, Chromosomes-Artificial-Bacterial, Adaptor Protein Complex beta Subunits, Amino Acid Sequence, Proto-Oncogene-Proteins-c-myc, SUPPORT-NON-U-S-GOVT, Mice-Mutant-Strains, Molecular-Sequence-Data, Melanosomes, Animal, Chromosomes, Artificial, P1 Bacteriophage, Mice-Inbred-C57BL, Proteins, Membrane Proteins, Sequence-Homology-Amino-Acid, Two-Hybrid-System-Techniques, Adaptor Proteins, Vesicular Transport, Disease Models, Animal, Hermanski-Pudlak Syndrome, Chromosomes-Artificial-P1-Bacteriophage, Child, Preschool, Mutation, COS Cells, Insect Proteins, Child-Preschool, Female, Disease-Models-Animal, Peptides
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