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Updated: Sep 19, 2025

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
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Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells

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多组织表达和拼接数据优先考虑解剖学亚部位和性别特定的结直肠癌易感基因

Emma Hazelwood1,2, Daffodil M Canson3, Benedita Deslandes1,2

  • 1MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.

Nature communications
|May 30, 2025
PubMed
概括

这项研究使用全转录组关联研究 (TWAS) 确定了37个与结直肠癌 (CRC) 风险有因果关系的基因. 一些基因,如SEMA4D,显示了治疗CRC治疗的治疗潜力.

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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
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