Precursor messenger RNA (pre-mRNA) splicing is catalyzed by an intricate ribonucleoprotein complex called the spliceosome. Although the spliceosome is considered to be general cell “housekeeping” machinery, mutations in core components of the spliceosome frequently correlate with cell- or tissue-specific phenotypes and diseases. In this review, we expound the links between spliceosome mutations, aberrant splicing, and human cancers. Remarkably, spliceosome-targeted therapies (STTs) have become efficient anti-cancer strategies for cancer patients with splicing defects. We also highlight the links between spliceosome and immune signaling. Recent studies have shown that some spliceosome gene mutations can result in immune dysregulation and notable phenotypes due to mis-splicing of immune-related genes. Furthermore, several core spliceosome components harbor splicing-independent immune functions within the cell, expanding the functional repertoire of these diverse proteins.

前体信使 RNA (pre-mRNA) 剪接由称为剪接体的复杂核糖核蛋白复合物催化。尽管剪接体被认为是一般的细胞“看家”机器，但剪接体核心成分的突变经常与细胞或组织特异性表型和疾病相关。在这篇综述中，我们阐述了剪接体突变、异常剪接和人类癌症之间的联系。值得注意的是，剪接体靶向疗法（STTs）已成为具有剪接缺陷的癌症患者的有效抗癌策略。我们还强调了剪接体和免疫信号之间的联系。最近的研究表明，由于免疫相关基因的错误剪接，一些剪接体基因突变可导致免疫失调和显着表型。此外，