Lareau Liana F, Inada Maki, Green Richard E, Wengrod Jordan C, Brenner Steven E
Department of Molecular and Cell Biology and, University of California, Berkeley, California 94720, USA.
Nature. 2007 Apr 19;446(7138):926-9. doi: 10.1038/nature05676. Epub 2007 Mar 14.
The human and mouse genomes share a number of long, perfectly conserved nucleotide sequences, termed ultraconserved elements. Whereas these regions can act as transcriptional enhancers when upstream of genes, those within genes are less well understood. In particular, the function of ultraconserved elements that overlap alternatively spliced exons of genes encoding RNA-binding proteins is unknown. Here we report that in every member of the human SR family of splicing regulators, highly or ultraconserved elements are alternatively spliced, either as alternative 'poison cassette exons' containing early in-frame stop codons, or as alternative introns in the 3' untranslated region. These alternative splicing events target the resulting messenger RNAs for degradation by means of an RNA surveillance pathway called nonsense-mediated mRNA decay. Mouse orthologues of the human SR proteins exhibit the same unproductive splicing patterns. Three SR proteins have been previously shown to direct splicing of their own transcripts, and one of these is known to autoregulate its expression by coupling alternative splicing with decay; our results suggest that unproductive splicing is important for regulation of the entire SR family. We find that unproductive splicing associated with conserved regions has arisen independently in different SR genes, suggesting that splicing factors may readily acquire this form of regulation.
人类和小鼠基因组共享许多长的、完全保守的核苷酸序列,称为超保守元件。这些区域在基因上游时可作为转录增强子,而基因内部的那些区域则了解较少。特别是,与编码RNA结合蛋白的基因的可变剪接外显子重叠的超保守元件的功能尚不清楚。在此,我们报告,在人类剪接调节因子SR家族的每个成员中,高度或超保守元件都进行可变剪接,要么作为包含早期框内终止密码子的可变“毒性盒外显子”,要么作为3'非翻译区的可变内含子。这些可变剪接事件通过一种称为无义介导的mRNA降解的RNA监测途径,将产生的信使RNA靶向降解。人类SR蛋白的小鼠直系同源物表现出相同的无效剪接模式。先前已证明三种SR蛋白可指导其自身转录本的剪接,其中一种已知通过将可变剪接与降解偶联来自动调节其表达;我们的结果表明,无效剪接对整个SR家族的调节很重要。我们发现,与保守区域相关的无效剪接在不同的SR基因中独立出现,这表明剪接因子可能很容易获得这种调节形式。