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Characterization of BRCA1‐Associated Protein‐1 (BAP1) Aggregation Properties Induced by Cancer‐Associated Mutations
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Characterization of BRCA1‐Associated Protein‐1 (BAP1) Aggregation Properties Induced by Cancer‐Associated Mutations

Li‐Ching Hsiao, Sarita Puri, Manoj Kumar Sriramoju, Yong‐Sheng Wang, Tian‐Neng Lee, Lily Hui‐Ching Wang 和 Shang‐Te Danny Hsu
Chembiochem : a European journal of chemical biology, 卷.26(23), 頁碼.e202500372-n/a
27/11/2025
PMID: 41147157
Web of Science ID: WOS:001601223000001

摘要

aggregation kinetics BRCA1‐associated protein‐1 cancer disease
BRCA1‐associated protein‐1 (BAP1) is a tumor suppressor protein that regulates DNA transcription through its deubiquitinase activity. Cancer‐associated missense mutations within its ubiquitin C‐terminal hydrolase (UCH) domain result in structural destabilization and aggregation, contributing to various malignancies such as malignant mesothelioma and uveal melanoma. In this study, we investigated the aggregation mechanisms of highly destabilized BAP1‐UCH variants, including N78S, C91W, F81V, and G128R, using Thioflavin T (ThT) binding assays and AmyloFit analysis. Our results reveal that all BAP1‐UCH variants follow a secondary nucleation‐dominated aggregation model, exhibiting strong concentration dependence and significantly higher aggregation rates, which may be responsible for their impaired nuclear import, leading to increased cytosolic retention. These findings provide critical insights into how specific mutations in BAP1 drive aggregation and compromise its tumor‐suppressing functions inside the nucleus, thereby contributing to cancer progression. BAP1 is a master regulator of oncogenesis with many cancer‐associated mutations within its N‐terminal ubiquitin C‐terminal hydrolase (UCH) domain. We analytically demonstrated that BAP1‐UCH harboring the N78S, C91W, F81V, and G128R mutations aggregate into amyloid fibrils following a secondary nucleation aggregation model. Our study provides valuable insights into how single mutations can affect cancer progression through protein aggregation.

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https://doi.org/10.1002/cbic.202500372檢視
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