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关于直翅目 NUMTs 起源和进化的基因组和转录组观点。

Genomic and transcriptomic perspectives on the origin and evolution of NUMTs in Orthoptera.

机构信息

College of Life Sciences, Shaanxi Normal University, Xi'an, China.

Department of Entomology, Texas A&M University, College Station, TX, USA.

出版信息

Mol Phylogenet Evol. 2024 Dec;201:108221. doi: 10.1016/j.ympev.2024.108221. Epub 2024 Oct 23.

DOI:10.1016/j.ympev.2024.108221
PMID:39454737
Abstract

Nuclear mitochondrial pseudogenes (NUMTs) result from the transfer of mitochondrial DNA (mtDNA) to the nuclear genome. NUMTs, as "frozen" snapshots of mitochondria, can provide insights into diversification patterns. In this study, we analyzed the origins and insertion frequency of NUMTs using genome assembly data from ten species in Orthoptera. We found divergences between NUMTs and contemporary mtDNA in Orthoptera ranging from 0 % to 23.78 %. The results showed that the number of NUMT insertions was significantly positively correlated with the content of transposable elements in the genome. We found that 39.09 %-68.65 % of the NUMTs flanking regions (2,000 bp) contained retrotransposons, and more NUMTs originated from mitochondrial rDNA regions. Based on the analysis of the mitochondrial transcriptome, we found a potential mechanism of NUMT integration: mitochondrial transcripts are reverse transcribed into double-stranded DNA and then integrated into the genome. The probability of this mechanism occurring accounts for 0.30 %-1.02 % of total mitochondrial nuclear transfer events. Finally, based on the phylogenetic tree constructed using NUMTs and contemporary mtDNA, we provide insights into ancient evolutionary events such as species-specific "autaponumts" and "synaponumts" shared among different species, as well as post-integration duplication events.

摘要

核线粒体假基因(NUMTs)是由线粒体 DNA(mtDNA)转移到核基因组而产生的。NUMTs 作为线粒体的“冻结”快照,可以深入了解多样化模式。在这项研究中,我们使用直翅目十个物种的基因组组装数据来分析 NUMTs 的起源和插入频率。我们发现直翅目动物的 NUMTs 与当代 mtDNA 之间存在 0%-23.78%的分歧。结果表明,NUMT 的插入数量与基因组中转座元件的含量呈显著正相关。我们发现,NUMTs 侧翼区域(2000bp)的 39.09%-68.65%包含反转录转座子,并且更多的 NUMTs 起源于线粒体 rDNA 区域。基于对线粒体转录组的分析,我们发现了 NUMT 整合的潜在机制:线粒体转录物被逆转录成双链 DNA,然后整合到基因组中。这种机制发生的概率占总线粒体核转移事件的 0.30%-1.02%。最后,基于使用 NUMTs 和当代 mtDNA 构建的系统发育树,我们深入了解了物种特异性“autaponumts”和不同物种之间共享的“synaponumts”等古老进化事件,以及整合后的重复事件。

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