Article
Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism.
Blood - 15 Dec 2000
Gwynn B, Ciciotte S L, Hunter S J, Washburn L L, Smith R S, Andersen S G, Swank R T, Dell'Angelica E C, Bonifacino J S, Eicher E M, Peters L L
Abstract excerpt
Defects in a triad of organelles (melanosomes, platelet granules, and lysosomes) result in albinism, prolonged bleeding, and lysosome abnormalities in Hermansky-Pudlak syndrome (HPS). Defects in HPS1, a protein of unknown function, and in components of the AP-3 complex cause some, but not all, cases of HPS in humans. There have been 15 inherited models of HPS described in the mouse, underscoring its marked...
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