Hubei Key Laboratory of Cell Homeostasis, College of Life Sciences, Wuhan University, Wuhan, 430072, China.
Institute of Fisheries Science, College of Life Science, "National Taiwan University", Taipei, 10617, Taiwan, China.
J Genet Genomics. 2019 Feb;46(2):75-86. doi: 10.1016/j.jgg.2019.02.002. Epub 2019 Feb 23.
Insertion and deletion (indel) mutations, which can trigger single nucleotide substitutions on the flanking regions of genes, may generate abundant materials for disease defense, reproduction, species survival and evolution. However, genetic and evolutionary mechanisms of indels remain elusive. We establish a comparative genome-transcriptome-alignment approach for a large-scale identification of indels in Monopterus population. Over 2000 indels in 1738 indel genes, including 1-21 bp deletions and 1-15 bp insertions, were detected. Each indel gene had ∼1.1 deletions/insertions, and 2-4 alleles in population. Frequencies of deletions were prominently higher than those of insertions on both genome and population levels. Most of the indels led to in frame mutations with multiples of three and majorly occurred in non-domain regions, indicating functional constraint or tolerance of the indels. All indel genes showed higher expression levels than non-indel genes during sex reversal. Slide window analysis of global expression levels in gonads showed a significant positive correlation with indel density in the genome. Moreover, indel genes were evolutionarily conserved and evolved slowly compared to non-indel genes. Notably, population genetic structure of indels revealed divergent evolution of Monopterus population, as bottleneck effect of biogeographic isolation by Taiwan Strait, China.
插入和缺失(indel)突变可以在基因侧翼区域引发单个核苷酸替换,可能为疾病防御、繁殖、物种生存和进化产生丰富的物质。然而,indel 的遗传和进化机制仍然难以捉摸。我们建立了一种比较基因组-转录组-比对方法,用于大规模鉴定 Monopterus 种群中的 indel。在 1738 个 indel 基因中检测到超过 2000 个 indel,包括 1-21 bp 的缺失和 1-15 bp 的插入。每个 indel 基因有 ∼1.1 个缺失/插入,种群中有 2-4 个等位基因。缺失的频率在基因组和种群水平上都明显高于插入的频率。大多数 indel 导致了三的倍数的框架突变,并且主要发生在非结构域区域,表明 indel 具有功能约束或耐受性。在性别反转过程中,所有 indel 基因的表达水平都高于非 indel 基因。性腺中全局表达水平的滑动窗口分析显示与基因组中 indel 密度呈显著正相关。此外,indel 基因比非 indel 基因在进化上更保守,进化速度更慢。值得注意的是,indel 基因的群体遗传结构揭示了 Monopterus 种群的分化进化,这是中国台湾海峡地理隔离造成的瓶颈效应。