Jin Lihua, Kryukov Kirill, Clemente Jose C, Komiyama Tomoyoshi, Suzuki Yoshiyuki, Imanishi Tadashi, Ikeo Kazuho, Gojobori Takashi
Center for Information Biology and DNA Data Bank of Japan, National Institute of Genetics, Yata 1111, Mishima, Shizuoka, 411-8540, Japan.
Gene. 2008 Dec 31;427(1-2):19-31. doi: 10.1016/j.gene.2008.09.002. Epub 2008 Sep 12.
Gene duplication and alternative splicing (AS) are the two major evolutionary mechanisms that can bring the functional variation by increasing gene diversification. The purpose of this research is to understand the evolutionary relationship between these two different mechanisms, utilizing available data resources. We found the proportion of AS loci and the average number of AS isoforms per locus to be larger in duplicated genes compared to those in singleton genes. However we also found that small gene families have larger proportion of AS loci and larger average number of AS isoforms per locus than large gene families. These results suggest that gene duplication allows for more alternative splicing events to occur on newly duplicated copies than on singletons, probably due to the reduced functional constraint on the duplicates. Smaller average number of AS isoforms in the larger gene families can be explained by the decreased possibility for new useful function to be created via a new alternative splicing event.
基因复制和可变剪接（AS）是两种主要的进化机制，它们可以通过增加基因多样性带来功能变异。本研究的目的是利用现有的数据资源来了解这两种不同机制之间的进化关系。我们发现，与单拷贝基因相比，复制基因中AS位点的比例以及每个位点的AS异构体平均数量更大。然而，我们还发现，小基因家族中AS位点的比例更大，每个位点的AS异构体平均数量也比大基因家族更大。这些结果表明，基因复制使得新复制的拷贝比单拷贝基因发生更多的可变剪接事件，这可能是由于复制基因上功能限制的减少。大基因家族中AS异构体的平均数量较少，可以解释为通过新的可变剪接事件产生新的有用功能的可能性降低。
