Hall D H, Liu Y, Shub D A
School of Applied Biology, Georgia Institute of Technology, Atlanta 30332.
Nature. 1989 Aug 17;340(6234):575-6. doi: 10.1038/340574a0.
The organization of genes into exons separated by introns may permit rapid evolution of protein-coding sequences by exon shuffling. Introns could provide non-coding targets for recombination, which would then give rise to novel combinations of exons. Evidence to support this theory is indirect and consists of examples of homologous domains of protein structure encoded in different genes, with introns in conserved positions at the boundaries of these domains. Here, we report the first direct evidence for exon shuffling. Two spontaneous deletion mutations of phage T4 have been characterized by sequencing, and they are clearly the result of recombination between homologous regions of two self-splicing group I introns. As a result of the recombination, exons of different genes are transcribed together, with a hybrid intron between them. One of these introns is proficient in self-splicing.
基因被内含子分隔成外显子的组织方式可能通过外显子洗牌实现蛋白质编码序列的快速进化。内含子可为重组提供非编码靶点,进而产生外显子的新组合。支持这一理论的证据是间接的,包括不同基因中编码的蛋白质结构同源结构域的例子,内含子位于这些结构域边界的保守位置。在此,我们报告了外显子洗牌的首个直接证据。通过测序对噬菌体T4的两个自发缺失突变进行了表征,它们显然是两个自我剪接的I类内含子同源区域之间重组的结果。重组的结果是,不同基因的外显子一起转录,中间有一个杂合内含子。其中一个内含子能够进行自我剪接。