School of Mathematics and Statistics, Qingdao University, Shandong, China.
Genome Biol Evol. 2020 Nov 3;12(11):1943-1952. doi: 10.1093/gbe/evaa160.
Mutation is a driving force of evolution that has been shaped by natural selection and is universally biased. Previous studies determined genome-wide mutational patterns for several species and investigated the heterogeneity of mutational patterns at fine-scale levels. However, little evidence of the heterogeneity of mutation rates over large genomic regions was shown. Hence, the mutational patterns of different large-scale genomic regions and their association with selective pressures still need to be explored. As the second most species-rich animal phylum, little is known about the mutational patterns in Mollusca, especially oysters. In this study, the mutational bias patterns are characterized by using whole-genome resequencing data in the Crassostrea gigas genome. I studied the genome-wide relative rates of the pair mutations and found that the predominant mutation is GC -> AT, irrespective of the genomic regions. This analysis reveals that mutational biases were associated with gene expression levels across the C. gigas genome. Genes with higher expression levels and breadth expression patterns, longer coding length, and more exon numbers had relatively higher GC -> AT rates. I also found that genes with larger dN/dS values had relatively higher GC -> AT rates. This work represents the first comprehensive research on the mutational biases in Mollusca species. Here, I comprehensively investigated the relationships between mutational biases with some intrinsic genetic factors and evolutionary indicators and proposed that selective pressures are important forces shaping the mutational biases across the C. gigas genome.
突变是进化的驱动力,它受到自然选择的塑造,并普遍存在偏向性。先前的研究确定了几个物种的全基因组突变模式,并研究了细尺度水平上突变模式的异质性。然而,关于大基因组区域内突变率的异质性几乎没有证据。因此,不同大基因组区域的突变模式及其与选择压力的关系仍需要探索。作为第二大物种丰富的动物门,软体动物门的突变模式,特别是牡蛎的突变模式知之甚少。在这项研究中,使用太平洋牡蛎基因组的全基因组重测序数据来描述突变偏向模式。我研究了全基因组中对突变的相对速率,发现主要的突变是 GC -> AT,无论基因组区域如何。这项分析表明,突变偏向与太平洋牡蛎基因组中的基因表达水平有关。表达水平较高、表达模式较宽、编码长度较长、外显子数量较多的基因具有相对较高的 GC -> AT 比率。我还发现,dN/dS 值较大的基因具有相对较高的 GC -> AT 比率。这项工作代表了对软体动物物种突变偏向性的首次全面研究。在这里,我全面研究了突变偏向与一些内在遗传因素和进化指标之间的关系,并提出选择压力是塑造太平洋牡蛎基因组中突变偏向的重要力量。