Department of Biotechnology, University of Bielefeld, Germany.
Cell Mol Life Sci. 2011 Jan;68(2):235-42. doi: 10.1007/s00018-010-0532-2. Epub 2010 Sep 19.
The genesis of the exon-intron patterns of eukaryotic genes persists as one of the most enigmatic questions in molecular genetics. In particular, the origin and mechanisms responsible for creation of spliceosomal introns have remained controversial. Now the issue appears to have taken a turn. The formation of novel introns in eukaryotes, including some vertebrate lineages, is not as rare as commonly assumed. Moreover, introns appear to have been gained in parallel at closely spaced sites and even repeatedly at the same position. Based on these discoveries, novel hypotheses of intron creation have been developed. The new concepts posit that DNA repair processes are a major source of intron formation. Here, after summarizing the current views of intron gain mechanisms, I review findings in support of the DNA repair hypothesis that provides a global mechanistic scenario for intron creation. Some implications on our perception of the mosaic structure of eukaryotic genes are also discussed.
真核生物基因中外显子-内含子模式的起源仍然是分子遗传学中最神秘的问题之一。特别是,对于剪接体内含子产生的起源和机制仍然存在争议。现在,这个问题似乎出现了转机。真核生物中新内含子的形成,包括一些脊椎动物谱系,并不像通常假设的那样罕见。此外,内含子似乎在紧密间隔的位点上平行获得,甚至在同一位置上重复获得。基于这些发现,提出了新的内含子形成假说。这些新概念假设,DNA 修复过程是内含子形成的主要来源。在这里,在总结内含子获得机制的当前观点之后,我回顾了支持 DNA 修复假说的发现,该假说为内含子的产生提供了一个整体的机制性情景。还讨论了这对我们理解真核生物基因镶嵌结构的认识的一些影响。