Zhao Zhongming, Jiang Cizhong
Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
J Biomed Biotechnol. 2010;2010:202918. doi: 10.1155/2010/202918. Epub 2010 Jun 7.
Features of amino-acid and codon changes can provide us important insights on protein evolution. So far, investigators have often examined mutation patterns at either interspecies fixed substitution or intraspecies nucleotide polymorphism level, but not both. Here, we performed a unique analysis of a combined set of intra-species polymorphisms and inter-species substitutions in human codons. Strong difference in mutational pattern was found at codon positions 1, 2, and 3 between the polymorphism and fixation data. Fixation had strong bias towards increasing the rarest codons but decreasing the most frequently used codons, suggesting that codon equilibrium has not been reached yet. We detected strong CpG effect on CG-containing codons and subsequent suppression by fixation. Finally, we detected the signature of purifying selection against Amid R:U dinucleotides at synonymous dicodon boundaries. Overall, fixation process could effectively and quickly correct the volatile changes introduced by polymorphisms so that codon changes could be gradual and directional and that codon composition could be kept relatively stable during evolution.
氨基酸和密码子变化的特征能够为我们提供有关蛋白质进化的重要见解。到目前为止,研究人员常常仅在种间固定替换或种内核苷酸多态性水平上研究突变模式,而非两者兼顾。在此,我们对人类密码子中的一组种内多态性和种间替换进行了独特的分析。在多态性数据和固定数据之间,密码子第1、2和3位的突变模式存在显著差异。固定替换强烈倾向于增加最罕见的密码子,但减少最常用的密码子,这表明尚未达到密码子平衡。我们检测到对含CG密码子有强烈的CpG效应,随后这种效应被固定替换所抑制。最后,我们在同义双密码子边界检测到针对Amid R:U二核苷酸的纯化选择特征。总体而言,固定替换过程能够有效且快速地纠正多态性引入的不稳定变化,从而使密码子变化能够是渐进且定向的,并且在进化过程中密码子组成能够保持相对稳定。