Hermansky-Pudlak syndrome and pale ear: melanosome-making for the millennium.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized principally by oculocutaneous albinism, a bleeding tendency, and a ceroid-lipofuscin lysosomal storage disease. These clinical manifestations of HPS are associated with defects of multiple cytoplasmic organelles--melanosomes, platelet granules, and lysosomes--suggesting that the HPS gene product is involved in some shared feature of the biogenesis or functions of these diverse organelles. The HPS gene has been cloned, and a number of pathologic mutations of the gene have been identified. Functional studies indicate that the HPS protein is part of a high-molecular weight complex involved in the biogenesis of early melanosomes. Additional disorders with similarities to HPS have been identified in man, mouse, flies, and yeast, and it is rapidly becoming clear that understanding these disorders will shed new light on the mechanisms by which cells traffic newly synthesized proteins through the cytoplasm to assemble functional organelles.
Spritz
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Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver 80262, USA. richard.spritz@uchsc.edu
D016115:Albinism, Oculocutaneous / Q000235:genetics* / Q000503:physiopathology*; D000818:Animals; D004195:Disease Models, Animal; D004423:Ear; D006801:Humans; D020460:Melanosomes / Q000502:physiology*