Kryuchkova-Mostacci Nadezda, Robinson-Rechavi Marc
Department of Ecology and Evolution, University of Lausanne, Lausanne, Switzerland.
Swiss Institute of Bioinformatics, Lausanne, Switzerland.
PLoS Comput Biol. 2016 Dec 28;12(12):e1005274. doi: 10.1371/journal.pcbi.1005274. eCollection 2016 Dec.
The ortholog conjecture implies that functional similarity between orthologous genes is higher than between paralogs. It has been supported using levels of expression and Gene Ontology term analysis, although the evidence was rather weak and there were also conflicting reports. In this study on 12 species we provide strong evidence of high conservation in tissue-specificity between orthologs, in contrast to low conservation between within-species paralogs. This allows us to shed a new light on the evolution of gene expression patterns. While there have been several studies of the correlation of expression between species, little is known about the evolution of tissue-specificity itself. Ortholog tissue-specificity is strongly conserved between all tetrapod species, with the lowest Pearson correlation between mouse and frog at r = 0.66. Tissue-specificity correlation decreases strongly with divergence time. Paralogs in human show much lower conservation, even for recent Primate-specific paralogs. When both paralogs from ancient whole genome duplication tissue-specific paralogs are tissue-specific, it is often to different tissues, while other tissue-specific paralogs are mostly specific to the same tissue. The same patterns are observed using human or mouse as focal species, and are robust to choices of datasets and of thresholds. Our results support the following model of evolution: in the absence of duplication, tissue-specificity evolves slowly, and tissue-specific genes do not change their main tissue of expression; after small-scale duplication the less expressed paralog loses the ancestral specificity, leading to an immediate difference between paralogs; over time, both paralogs become more broadly expressed, but remain poorly correlated. Finally, there is a small number of paralog pairs which stay tissue-specific with the same main tissue of expression, for at least 300 million years.
直系同源基因猜想意味着直系同源基因之间的功能相似性高于旁系同源基因之间的功能相似性。尽管证据相当薄弱且存在相互矛盾的报道,但通过表达水平和基因本体术语分析已为该猜想提供了支持。在这项针对12个物种的研究中,我们提供了强有力的证据,证明直系同源基因在组织特异性方面具有高度保守性,而种内旁系同源基因之间的保守性较低。这使我们能够对基因表达模式的进化有新的认识。虽然已经有多项关于物种间表达相关性的研究,但对于组织特异性本身的进化却知之甚少。在所有四足动物物种中,直系同源基因的组织特异性都得到了强烈的保守,小鼠和青蛙之间的皮尔逊相关性最低,为r = 0.66。组织特异性相关性随着分歧时间的增加而显著降低。人类中的旁系同源基因显示出低得多的保守性,即使是最近灵长类特有的旁系同源基因也是如此。当来自古代全基因组复制的组织特异性旁系同源基因的两个旁系同源基因都是组织特异性时,它们通常针对不同的组织,而其他组织特异性旁系同源基因大多针对相同的组织。使用人类或小鼠作为重点物种时观察到相同的模式,并且对数据集和阈值的选择具有稳健性。我们的结果支持以下进化模型:在没有复制的情况下,组织特异性进化缓慢,组织特异性基因不会改变其主要表达组织;小规模复制后,表达较少的旁系同源基因失去祖先特异性,导致旁系同源基因之间立即出现差异;随着时间的推移,两个旁系同源基因的表达范围都变得更广,但相关性仍然很差。最后,有一小部分旁系同源基因对在至少3亿年的时间里一直保持对相同主要表达组织的组织特异性。