Nielsen Cydney B, Friedman Brad, Birren Bruce, Burge Christopher B, Galagan James E
Department of Biology, Massachusetts Institute of Technology Cambridge, Massachusetts, USA.
PLoS Biol. 2004 Dec;2(12):e422. doi: 10.1371/journal.pbio.0020422. Epub 2004 Nov 30.
Little is known about the patterns of intron gain and loss or the relative contributions of these two processes to gene evolution. To investigate the dynamics of intron evolution, we analyzed orthologous genes from four filamentous fungal genomes and determined the pattern of intron conservation. We developed a probabilistic model to estimate the most likely rates of intron gain and loss giving rise to these observed conservation patterns. Our data reveal the surprising importance of intron gain. Between about 150 and 250 gains and between 150 and 350 losses were inferred in each lineage. We discuss one gene in particular (encoding 1-phosphoribosyl-5-pyrophosphate synthetase) that displays an unusually high rate of intron gain in multiple lineages. It has been recognized that introns are biased towards the 5' ends of genes in intron-poor genomes but are evenly distributed in intron-rich genomes. Current models attribute this bias to 3' intron loss through a poly-adenosine-primed reverse transcription mechanism. Contrary to standard models, we find no increased frequency of intron loss toward the 3' ends of genes. Thus, recent intron dynamics do not support a model whereby 5' intron positional bias is generated solely by 3'-biased intron loss.
关于内含子获得和丢失的模式,或者这两个过程对基因进化的相对贡献,我们了解得还很少。为了研究内含子进化的动态过程,我们分析了来自四个丝状真菌基因组的直系同源基因,并确定了内含子保守性的模式。我们开发了一个概率模型,以估计导致这些观察到的保守模式的内含子获得和丢失的最可能速率。我们的数据揭示了内含子获得的惊人重要性。在每个谱系中,推断出约150至250次获得和150至350次丢失。我们特别讨论了一个基因(编码5-磷酸核糖-1-焦磷酸合成酶),它在多个谱系中显示出异常高的内含子获得率。人们已经认识到,在内含子贫乏的基因组中,内含子倾向于基因的5'端,但在内含子丰富的基因组中则均匀分布。当前的模型将这种偏向归因于通过聚腺苷酸引发的逆转录机制导致的3'端内含子丢失。与标准模型相反,我们没有发现基因3'端内含子丢失频率增加。因此,最近的内含子动态不支持仅由3'偏向的内含子丢失产生5'内含子位置偏向的模型。