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BLOC-1和BORC:内溶酶体动力学的复杂调节因子。

BLOC-1 and BORC: Complex regulators of endolysosomal dynamics.

作者信息

De Pace Raffaella, Ghosh Saikat, Williamson Chad D, Bonifacino Juan S

机构信息

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.

出版信息

Cell Chem Biol. 2025 Aug 26. doi: 10.1016/j.chembiol.2025.08.001.

Abstract

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.

摘要

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。

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本文引用的文献

1
EndoMAP.v1 charts the structural landscape of human early endosome complexes.
Nature. 2025 May 28. doi: 10.1038/s41586-025-09059-y.
2
Biochemical and structural characterization of Biogenesis of Lysosome-related Organelles Complex-1 (BLOC-1).
Biochem Biophys Res Commun. 2025 Jun 8;765:151862. doi: 10.1016/j.bbrc.2025.151862. Epub 2025 Apr 21.
3
ARL8B regulates lysosomal function and predicts poor prognosis in hepatocellular carcinoma.
Sci Rep. 2025 Apr 10;15(1):12278. doi: 10.1038/s41598-025-97616-w.
4
Peripheral positioning of lysosomes supports melanoma aggressiveness.
Nat Commun. 2025 Apr 9;16(1):3375. doi: 10.1038/s41467-025-58528-5.
5
The structure and assembly of the hetero-octameric BLOC-one-related complex.
Structure. 2025 Feb 6;33(2):234-246.e6. doi: 10.1016/j.str.2024.12.001. Epub 2024 Dec 30.
6
Evolutionary origins of the lysosome-related organelle sorting machinery reveal ancient homology in post-endosome trafficking pathways.
Proc Natl Acad Sci U S A. 2024 Oct 22;121(43):e2403601121. doi: 10.1073/pnas.2403601121. Epub 2024 Oct 17.
7
A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9).
BMC Genomics. 2024 Aug 27;25(1):805. doi: 10.1186/s12864-024-10478-w.
8
Chemical genetic screens reveal defective lysosomal trafficking as synthetic lethal with NF1 loss.
J Cell Sci. 2024 Aug 1;137(15). doi: 10.1242/jcs.262343. Epub 2024 Aug 14.
9
Accurate structure prediction of biomolecular interactions with AlphaFold 3.
Nature. 2024 Jun;630(8016):493-500. doi: 10.1038/s41586-024-07487-w. Epub 2024 May 8.
10
Messenger RNA transport on lysosomal vesicles maintains axonal mitochondrial homeostasis and prevents axonal degeneration.
Nat Neurosci. 2024 Jun;27(6):1087-1102. doi: 10.1038/s41593-024-01619-1. Epub 2024 Apr 10.

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