title: The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene.
abstract: Hermansky-Pudlak syndrome (HPS) is a group of human disorders of organelle biogenesis characterized by defective synthesis of melanosomes, lysosomes, and platelet dense granules. In the mouse, at least 15 loci are associated with mutant phenotypes similar to human HPS. We have identified the gene mutated in cocoa (coa) mice, which is associated with an HPS-like mutant phenotype and thus represents a strong candidate for human HPS. Analysis of coa-mutant mice and cultured coa-mutant mouse melanocytes indicates that the normal coa gene product is involved in early stages of melanosome biogenesis and maturation.
authors.affiliation: Human Medical Genetics Program, University of Colorado Health Sciences Center, 4200 East Ninth Avenue, B161, Denver, Colorado 80262, USA.
authors.forename: T
authors.initials: T
authors.lastname: Suzuki
authors.forename: W
authors.initials: W
authors.lastname: Li
authors.forename: Q
authors.initials: Q
authors.lastname: Zhang
authors.forename: E K
authors.initials: EK
authors.lastname: Novak
authors.forename: E V
authors.initials: EV
authors.lastname: Sviderskaya
authors.forename: A
authors.initials: A
authors.lastname: Wilson
authors.forename: D C
authors.initials: DC
authors.lastname: Bennett
authors.forename: B A
authors.initials: BA
authors.lastname: Roe
authors.forename: R T
authors.initials: RT
authors.lastname: Swank
authors.forename: R A
authors.initials: RA
authors.lastname: Spritz
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D002478:Cells, Cultured; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005260:Female; D015870:Gene Expression; D005796:Genes / Q000235:genetics; D006200:Hair Color / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008544:Melanocytes / Q000166:cytology / Q000378:metabolism / Q000648:ultrastructure; D020460:Melanosomes / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D008809:Mice, Inbred C3H; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D008854:Microscopy, Electron; D008969:Molecular Sequence Data; D009154:Mutation; D015388:Organelles / Q000378:metabolism*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D011993:Recombinant Fusion Proteins / Q000235:genetics / Q000378:metabolism; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution
chemical_list: C102160:HPS1 protein, human; C491131:Hps1 protein, mouse; C442862:Hps3 protein, mouse; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D012333:RNA, Messenger; D011993:Recombinant Fusion Proteins; D004247:DNA