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Updated: Jun 3, 2025

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
Published on: April 26, 2017
The Function of Poly (U) Binding Splicing Factor 60 (PUF60) in Disease Regulation
Huijuan Chen1,2, Tian Guan3, Jingfeng Song1,2
1School of Pharmaceutical Sciences and Yunnan Key Laboratory of Pharmacology for Natural Products, Kunming Medical University, Kunming, Yunnan 650500, China.
Alternative splicing (AS) regulates gene expression, but errors cause diseases. PUF60 protein is vital for AS and a potential therapeutic target in cancers and other human diseases.
Area of Science:
- Molecular Biology
- Genetics
- Biochemistry
Background:
- Alternative splicing (AS) of pre-mRNA is crucial for proteome diversity and gene function regulation.
- Aberrant splicing is implicated in various human diseases, including cancers, neurological disorders, and infections.
- The PUF60 protein plays key roles in RNA splicing and gene transcription, interacting with U2AF65 to promote splicing.
Purpose of the Study:
- To review the structural characteristics, splicing mutants, and disease-related functions of PUF60.
- To explore PUF60 as a potential therapeutic target for human diseases, particularly cancers.
- To discuss targeted PUF60 inhibitors and current research limitations.
Main Methods:
- Literature review of studies on PUF60 structure, function, and disease associations.
- Analysis of PUF60's role in alternative splicing and gene regulation.
- Examination of PUF60's overexpression in cancer cells and its importance in development.
Main Results:
- PUF60 exhibits significant overexpression in many cancer cells and is essential for embryonic development.
- PUF60's interaction with U2AF65 facilitates the splicing of introns with weak splice sites.
- Evidence suggests PUF60 is a potential therapeutic target for various diseases, including cancers and infections.
Conclusions:
- PUF60 is a critical protein in RNA splicing with significant implications in human diseases.
- Targeting PUF60 presents a promising therapeutic strategy for cancers and other conditions.
- Further research is needed to fully elucidate PUF60's mechanisms and therapeutic potential.
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