De Pace Raffaella, Ghosh Saikat, Williamson Chad D, Bonifacino Juan S
Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
Cell Chem Biol. 2025 Aug 26. doi: 10.1016/j.chembiol.2025.08.001.
Endolysosomes are dynamic organelles that undergo movement along the cytoskeleton, fusion, fission, and tubulation during their lifetime. These processes are regulated by complex molecular machineries, including the structurally related hetero-octameric complexes BLOC-1 and BORC. BLOC-1 associates with early endosomes to mediate the biogenesis of lysosome-related organelles (LROs), such as melanosomes and platelet dense bodies. Accordingly, mutations in BLOC-1 subunits cause Hermansky-Pudlak syndrome (HPS), a disorder characterized by pigmentation defects and bleeding abnormalities. In contrast, BORC associates with lysosomes, late endosomes, and synaptic vesicle precursors, promoting their transport along microtubules. BORC also regulates endolysosome fusion with other endolysosomes, as well as with phagosomes and autophagosomes. Mutations in BORC subunits cause a severe neurodevelopmental disorder in humans. In this article, we review recent progress in the elucidation of the structure, evolution, physiological roles, and regulation of BLOC-1 and BORC, highlighting their critical contributions to maintaining endolysosomal organization and function.
内溶酶体是动态细胞器,在其生命周期中会沿着细胞骨架移动、融合、裂变和形成管状结构。这些过程由复杂的分子机制调控,包括结构相关的异源八聚体复合物BLOC-1和BORC。BLOC-1与早期内体结合,介导溶酶体相关细胞器(如黑素小体和血小板致密体)的生物发生。因此,BLOC-1亚基的突变会导致Hermansky-Pudlak综合征(HPS),这是一种以色素沉着缺陷和出血异常为特征的疾病。相比之下,BORC与溶酶体、晚期内体和突触小泡前体结合,促进它们沿微管运输。BORC还调节内溶酶体与其他内溶酶体以及与吞噬体和自噬体的融合。BORC亚基的突变会导致人类严重的神经发育障碍。在本文中,我们综述了在阐明BLOC-1和BORC的结构、进化、生理作用及调控方面的最新进展,强调了它们对维持内溶酶体组织和功能的关键贡献。