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):145-53. doi: 10.1038/ng1087.
Qing Zhang  1 ,  Baohui Zhao ,  Wei Li ,  Naoki Oiso ,  Edward K Novak ,  Michael E Rusiniak ,  Rashi Gautam ,  Sreenivasulu Chintala ,  Edward P O'Brien ,  Yuke Zhang ,  Bruce A Roe ,  Rosemary W Elliott ,  Eva M Eicher ,  Ping Liang ,  Christian Kratz ,  Eric Legius ,  Richard A Spritz ,  T Norene O'Sullivan ,  Neal G Copeland ,  Nancy A Jenkins ,  Richard T Swank
Affiliations
  • 1. Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263, USA.
PMID: 12548288 DOI: 10.1038/ng1087
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.