Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.
Document Type
Article
Publication Date
2003
Keywords
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
First Page
145
Last Page
153
JAX Source
Nat Genet 2003 Feb; 33(2):145-153.
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.
Recommended Citation
Zhang Q,
Zhao B,
Li W,
Oiso N,
Novak EK,
Rusiniak ME,
Gautam R,
Elliott RW,
Eicher EM,
Liang P,
O'Sullivan TN,
Jenkins NA,
et a.
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 2003 Feb; 33(2):145-153.