Institute of Biotechnology, PL56 (Viikinkaari 5), 000014, University of Helsinki, Finland.
Institute of Biotechnology, PL56 (Viikinkaari 5), 000014, University of Helsinki, Finland.
Semin Cell Dev Biol. 2018 Jul;79:103-112. doi: 10.1016/j.semcdb.2017.09.036. Epub 2017 Dec 14.
The U12-dependent (minor) spliceosome excises a rare group of introns that are characterized by a highly conserved 5' splice site and branch point sequence. Several new congenital or somatic diseases have recently been associated with mutations in components of the minor spliceosome. A common theme in these diseases is the detection of elevated levels of transcripts containing U12-type introns, of which a subset is associated with other splicing defects. Here we review the present understanding of minor spliceosome diseases, particularly those associated with the specific components of the minor spliceosome. We also present a model for interpreting the molecular-level consequences of the different diseases.
U12 依赖性（次要）剪接体切除一组罕见的内含子，这些内含子的特征是高度保守的 5' 剪接位点和分支点序列。最近，几种新的先天性或体细胞疾病与次要剪接体成分的突变有关。这些疾病的一个共同主题是检测到含有 U12 型内含子的转录本水平升高，其中一部分与其他剪接缺陷有关。本文综述了对次要剪接体疾病的现有认识，特别是与次要剪接体特定成分相关的疾病。我们还提出了一种解释不同疾病分子水平后果的模型。
