Multi-organellar disorders of pigmentation: intracellular traffic jams in mammals, flies and yeast.
Several different mutant genes in humans, mice and Drosophila, most of which were identified initially on the basis of reduced pigmentation, have been associated with defects of multiple cytoplasmic organelles - melanosomes, lysosomes and granules. Recent discoveries show that several of these mutations directly affect components in the pathway of organelle-specific protein trafficking, and provide new insights into the relationships of these pathways in mammals, flies and yeast.
Spritz
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Human Medical Genetics Program, University of Colorado Health Sciences Center, 4200 East Ninth Avenue, B161, Denver, CO 80262, USA. richard.spritz@uchsc.edu
D000818:Animals; D004330:Drosophila / Q000235:genetics / Q000378:metabolism; D006801:Humans; D051379:Mice; D009154:Mutation; D015388:Organelles / Q000378:metabolism; D010859:Pigmentation Disorders / Q000235:genetics* / Q000378:metabolism*; D011506:Proteins / Q000235:genetics / Q000378:metabolism; D012441:Saccharomyces cerevisiae / Q000235:genetics / Q000378:metabolism
D011506:Proteins