Acharya Debarun, Mukherjee Dola, Podder Soumita, Ghosh Tapash C
Bioinformatics Centre, Bose Institute, Kolkata, West Bengal, India.
PLoS One. 2015 Mar 9;10(3):e0120784. doi: 10.1371/journal.pone.0120784. eCollection 2015.
Gene duplication is one of the major driving forces shaping genome and organism evolution and thought to be itself regulated by some intrinsic properties of the gene. Comparing the essential genes among mouse and human, we observed that the essential genes avoid duplication in mouse while prefer to remain duplicated in humans. In this study, we wanted to explore the reasons behind such differences in gene essentiality by cross-species comparison of human and mouse. Moreover, we examined essential genes that are duplicated in humans are functionally more redundant than that in mouse. The proportion of paralog pseudogenization of essential genes is higher in mouse than that of humans. These duplicates of essential genes are under stringent dosage regulation in human than in mouse. We also observed slower evolutionary rate in the paralogs of human essential genes than the mouse counterpart. Together, these results clearly indicate that human essential genes are retained as duplicates to serve as backed up copies that may shield themselves from harmful mutations.
基因复制是塑造基因组和生物体进化的主要驱动力之一,并且被认为其自身受基因的某些内在特性调控。通过比较小鼠和人类中的必需基因,我们观察到必需基因在小鼠中避免复制,而在人类中更倾向于保持复制状态。在本研究中,我们希望通过对人类和小鼠进行跨物种比较来探究基因必需性存在这种差异的背后原因。此外,我们研究发现人类中复制的必需基因在功能上比小鼠中的更具冗余性。必需基因的旁系同源基因假基因化比例在小鼠中高于人类。与小鼠相比,这些必需基因的复制体在人类中受到更严格的剂量调控。我们还观察到人类必需基因的旁系同源基因的进化速率比小鼠的对应物慢。总之,这些结果清楚地表明,人类必需基因作为复制体被保留下来,作为备份拷贝,可能使自身免受有害突变的影响。