title: Analysis of the lysosomal storage disease Chediak-Higashi syndrome.
abstract: Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder of human, mouse (beige) and other mammalian species. The same genetic defect was found to result in the disease in all species identified, permitting a positional cloning approach using the mouse model beige to identify the responsible gene. The CHS gene was cloned and mutations identified in affected species. This review discusses the clinical features of CHS contrasting features seen in similar syndromes. The possible functions of the protein encoded by the CHS/beige gene are discussed, along with the alterations in cellular physiology seen in mutant cells.
authors.affiliation: Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA.
authors.forename: D M
authors.initials: DM
authors.lastname: Ward
authors.forename: G M
authors.initials: GM
authors.lastname: Griffiths
authors.forename: J C
authors.initials: JC
authors.lastname: Stinchcombe
authors.forename: J
authors.initials: J
authors.lastname: Kaplan
mesh_terms: D000818:Animals; D002609:Chediak-Higashi Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D050356:Lipid Metabolism; D008247:Lysosomes / Q000473:pathology; D051379:Mice; D008817:Mice, Mutant Strains; D009154:Mutation; D011506:Proteins / Q000235:genetics; D015398:Signal Transduction; D013602:T-Lymphocytes, Cytotoxic / Q000473:pathology; D033921:Vesicular Transport Proteins
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C102161:LYST protein, human; C491133:Lyst protein, mouse; D011506:Proteins; D033921:Vesicular Transport Proteins