The DYT6 dystonia causative protein THAP1 is responsible for proteasome activity via PSMB5 transcriptional regulation.

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Tác giả: Yukiko Gotoh, Jun Hamazaki, Eiichi Hashimoto, Sota Hashimoto, Shoshiro Hirayama, Maki Inami, Tomohiro Iriki, Ryo Motosugi, Shigeo Murata, Hiroki Sugishita, Hiroshi Takano, Yan Wang, Yi Wang, Ayako Watanabe, Ryoji Yao

Ngôn ngữ: eng

Ký hiệu phân loại: 149.2 Realism

Thông tin xuất bản: England : Nature communications , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 101205

The proteasome plays a pivotal role in protein degradation, and its impairment is associated with various pathological conditions, including neurodegenerative diseases. It is well understood that Nrf1 coordinates the induction of all proteasome genes in response to proteasome dysfunction. However, the molecular mechanism regulating the basal expression of the proteasome remains unclear. Here we identify the transcription factor THAP1, the causative gene of DYT6 dystonia, as a regulator of proteasome activity through a genome-wide genetic screen. We demonstrated that THAP1 directly regulates the expression of the PSMB5 gene, which encodes the central protease subunit β5. Depletion of THAP1 disrupts proteasome assembly, leading to reduced proteasome activity and the accumulation of ubiquitinated proteins. These findings uncover a regulatory mechanism for the proteasome and suggest a potential role for proteasome dysfunction in the pathogenesis of dystonia.
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