@article{ef0691a42a0b4bcbb9af13ad7ea24965,
title = "Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6",
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.",
author = "Qing Zhang and Baohui Zhao and Wei Li and Naoki Oiso and Novak, {Edward K.} and Rusiniak, {Michael E.} and Rashi Gautam and Sreenivasulu Chintala and O'Brien, {Edward P.} and Yuke Zhang and Roe, {Bruce A.} and Elliott, {Rosemary W.} and Eicher, {Eva M.} and Ping Liang and Christian Kratz and Eric Legius and Spritz, {Richard A.} and O'Sullivan, {T. Norene} and Copeland, {Neal G.} and Jenkins, {Nancy A.} and Swank, {Richard T.}",
note = "Funding Information: We thank M. Reddington, L. Zhen, Y. Jiang, D. Poslinski, D. Tabaczynski, M. Ellsworth, J. Pazik, and J. Tan for technical assistance; D. Swing for the microinjection; L. Gagnon for helping with the JE/Le cross; Y. Ni, X. Jiang and L. Song for sequencing BACs; and H. Chen for assistance in 5′ RACE analysis of ru2. P. Graf, C. McGregor and D. Ako-Adjei contributed to the construction of the ru genetic map. We thank H. Baumann for the gift of the STAT3 construct. This work was supported in part by the National Institutes of Health (R.T.S., E.M.E., B.A.R. and R.A.S.) and by the National Cancer Institute, Department of Health and Human Services (N.G.C. and N.A.J.). This research used core facilities supported in part by Roswell Park Cancer Institute{\textquoteright}s National Cancer Institute–funded Cancer Center Support Grant and by the Cancer Core Grant of The Jackson Laboratory. Copyright: Copyright 2008 Elsevier B.V., All rights reserved.",
year = "2003",
month = feb,
day = "1",
doi = "10.1038/ng1087",
language = "English (US)",
volume = "33",
pages = "145--153",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "2",
}