The spliceosome is a complex of RNA and proteins that function together to identify intron‐exon junctions in precursor messenger‐RNAs, splice out the introns, and join the flanking exons. Mutations in any one of the genes encoding the proteins that make up the spliceosome may result in diseases known as spliceosomopathies. While the spliceosome is active in all cell types, with the majority of the proteins presumably expressed ubiquitously, spliceosomopathies tend to be tissue‐specific as a result of germ line or somatic mutations, with phenotypes affecting primarily the retina in retinitis pigmentosa, hematopoietic lineages in myelodysplastic syndromes, or the craniofacial skeleton in mandibulofacial dysostosis. Here we describe the major spliceosomopathies, review the proposed mechanisms underlying retinitis pigmentosa and myelodysplastic syndromes, and discuss how this knowledge may inform our understanding of craniofacial spliceosomopathies.

中文翻译：

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剪接体病：疾病和机制。

剪接体是 RNA 和蛋白质的复合物，它们共同作用以识别前体信使 RNA 中的内含子-外显子连接，剪出内含子，并加入侧翼外显子。编码构成剪接体的蛋白质的任何一种基因的突变都可能导致称为剪接体病的疾病。虽然剪接体在所有细胞类型中都有活性，其中大多数蛋白质可能普遍表达，但由于种系或体细胞突变，剪接体病往往具有组织特异性，表型主要影响视网膜色素变性、造血谱系骨髓增生异常综合征，或下颌面骨发育不良的颅面骨骼。在这里，我们描述了主要的剪接体病，