Stajich Jason E, Dietrich Fred S, Roy Scott W
Department of Molecular Genetics and Microbiology, Center for Genome Technology, Institute for Genome Science and Policy, Duke University, Durham, NC 27710, USA.
Genome Biol. 2007;8(10):R223. doi: 10.1186/gb-2007-8-10-r223.
Eukaryotic protein-coding genes are interrupted by spliceosomal introns, which are removed from transcripts before protein translation. Many facets of spliceosomal intron evolution, including age, mechanisms of origins, the role of natural selection, and the causes of the vast differences in intron number between eukaryotic species, remain debated. Genome sequencing and comparative analysis has made possible whole genome analysis of intron evolution to address these questions.
We analyzed intron positions in 1,161 sets of orthologous genes across 25 eukaryotic species. We find strong support for an intron-rich fungus-animal ancestor, with more than four introns per kilobase, comparable to the highest known modern intron densities. Indeed, the fungus-animal ancestor is estimated to have had more introns than any of the extant fungi in this study. Thus, subsequent fungal evolution has been characterized by widespread and recurrent intron loss occurring in all fungal clades. These results reconcile three previously proposed methods for estimation of ancestral intron number, which previously gave very different estimates of ancestral intron number for eight eukaryotic species, as well as a fourth more recent method. We do not find a clear inverse correspondence between rates of intron loss and gain, contrary to the predictions of selection-based proposals for interspecific differences in intron number.
Our results underscore the high intron density of eukaryotic ancestors and the widespread importance of intron loss through eukaryotic evolution.
真核生物蛋白质编码基因被剪接体内含子打断,这些内含子在蛋白质翻译前从转录本中去除。剪接体内含子进化的许多方面,包括年龄、起源机制、自然选择的作用以及真核生物物种间内含子数量巨大差异的原因,仍存在争议。基因组测序和比较分析使得对内含子进化进行全基因组分析以解决这些问题成为可能。
我们分析了25个真核生物物种的1161组直系同源基因中的内含子位置。我们发现有力证据支持富含内含子的真菌 - 动物祖先,每千碱基有超过四个内含子,与已知最高的现代内含子密度相当。事实上,据估计真菌 - 动物祖先的内含子比本研究中的任何现存真菌都要多。因此,随后的真菌进化特征是在所有真菌类群中广泛且反复发生内含子丢失。这些结果协调了之前提出的三种估计祖先内含子数量的方法,这三种方法之前对八个真核生物物种的祖先内含子数量给出了非常不同的估计,以及第四种更新的方法。与基于选择的关于种间内含子数量差异的提议的预测相反,我们没有发现内含子丢失和获得速率之间明显的反比关系。
我们的结果强调了真核生物祖先的高内含子密度以及内含子丢失在真核生物进化中的广泛重要性。