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Figure 1


Fig. 1. Model for the role of HPS proteins in melanosome biogenesis. The lysosome-related organelle complexes 1, 2 and 3 (BLOC1-BLOC3) and their subunits are schematically illustrated. Solid arrows indicate cargo proteins being targeted to melanosomes and open arrows illustrate organelle maturation. BLOC1 is implicated in the targeting and fusion of trans-Golgi-network-derived vesicles with early-stage melanosomes; BLOC2 may mediate targeting/docking/fusion of vesicles with more mature melanosomes. Some proteins are transported to melanosomes via early endosomes through AP-3- and BLOC3-dependent processes. Components with identified disease mutations in both humans and mice are indicated by * and those with mouse mutations only by bullet. d, {delta}-subunit; m, µ3-subunit; s, {sigma}3-subunit; b3A, ß3A-subunit.