Murine Hermansky–Pudlak syndrome genes: regulators of lysosome-related organelles
Article first published online: 24 MAY 2004
Copyright © 2004 Wiley Periodicals, Inc.
Volume 26, Issue 6, pages 616–628, June 2004
How to Cite
Li, W., Rusiniak, M. E., Chintala, S., Gautam, R., Novak, E. K. and Swank, R. T. (2004), Murine Hermansky–Pudlak syndrome genes: regulators of lysosome-related organelles. Bioessays, 26: 616–628. doi: 10.1002/bies.20042
- Issue published online: 24 MAY 2004
- Article first published online: 24 MAY 2004
- This research utilized core facilities supported in part by Roswell Park Cancer Institute's National Cancer Institute-funded Cancer Center Support Grant CA-16056. This work was supported in part by National Institutes of Health Grants HL-51480, HL-31698, and EY-12104
In the mouse, at least 16 genes regulate vesicle trafficking to specialized lysosome-related organelles, including platelet dense granules and melanosomes. Fourteen of these genes have been identified by positional cloning. All 16 mouse mutants are models for the genetically heterogeneous human disease, Hermansky–Pudlak Syndrome (HPS). Five HPS genes encode known vesicle trafficking proteins. Nine genes are novel, are found only in higher eukaryotes and encode members of three protein complexes termed BLOCs (Biogenesis of Lysosome-related Organelles Complexes). Mutations in murine HPS genes, which encode protein co-members of BLOCs, produce essentially identical phenotypes. In addition to their well-known effects on pigmentation, platelet function and lysosome secretion, HPS genes control a wide range of physiological processes including immune recognition, neuronal functions and lung surfactant trafficking. Studies of the molecular functions of HPS proteins will reveal important details of vesicle trafficking and may lead to therapies for HPS. BioEssays 26:616–628, 2004. © 2004 Wiley Periodicals, Inc.