Tales from the Dark Side: Melanosome Biogenesis and Rare Genetic Disease

Lysosome-related organelles (LRO) comprise a group of cell type-specific, membrane-bound compartments that derive from the endolysosomal system but perform unique physiological functions. The Marks lab, largely in collaboration for over 25 years with the Raposo lab here at Institut Curie and primarily using pigment cell melanosomes as model LROs, is interested in understanding how specific protein constituents contribute to LRO function, the mechanisms by which these proteins are targeted to LROs, and genetic mutations and variation contribute to disease and to phenotypic diversity. Dr. Marks will review work over the past 20 years on dissection of the role of protein complexes that are targeted in the Hermansky-Pudlak syndromes in targeting constituents to melanosomes, and then focus on more recent work examining links between the biogenesis of the primary cilium and of melanosome biogenesis in the skin.