National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20814, USA.
Nucleic Acids Res. 2011 Aug;39(14):5837-44. doi: 10.1093/nar/gkr203. Epub 2011 Apr 5.
We describe a new program called cryptic splice finder (CSF) that can reliably identify cryptic splice sites (css), so providing a useful tool to help investigate splicing mutations in genetic disease. We report that many css are not entirely dormant and are often already active at low levels in normal genes prior to their enhancement in genetic disease. We also report a fascinating correlation between the positions of css and introns, whereby css within the exons of one species frequently match the exact position of introns in equivalent genes from another species. These results strongly indicate that many introns were inserted into css during evolution and they also imply that the splicing information that lies outside some introns can be independently recognized by the splicing machinery and was in place prior to intron insertion. This indicates that non-intronic splicing information had a key role in shaping the split structure of eukaryote genes.
我们描述了一个名为 cryptic splice finder (CSF) 的新程序，它可以可靠地识别 cryptic splice sites (css)，从而为研究遗传疾病中的剪接突变提供了有用的工具。我们报告称，许多 css 并非完全休眠，在遗传疾病中增强之前，它们在正常基因中通常已经以低水平活跃。我们还报告了 css 与内含子之间的有趣相关性，即一种物种的外显子中的 css 经常与另一种物种的等效基因中的内含子的精确位置相匹配。这些结果强烈表明，许多内含子是在进化过程中插入到 css 中的，这也意味着位于某些内含子之外的剪接信息可以被剪接机制独立识别，并在内含子插入之前就已经存在。这表明非内含子剪接信息在塑造真核生物基因的分裂结构方面发挥了关键作用。
