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

Authors: 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 
Citation: Zhang Q, etal., Nat Genet 2003 Feb;33(2):145-53.
Pubmed: (View Article at PubMed) PMID:12548288
DOI: Full-text: DOI:10.1038/ng1087

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.


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CRRD Object Information
CRRD ID: 632833
Created: 2003-08-29
Species: All species
Last Modified: 2003-08-29
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.