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种内线粒体基因组变异:基于对线粒体基因组基因和片段的传统选择的系统发育方法评估。

Intraspecies variation of the mitochondrial genome: An evaluation for phylogenetic approaches based on the conventional choices of genes and segments on mitogenome.

机构信息

Institute of Plant Science and Resources, Okayama University, Kurashiki city, Okayama, Japan.

Laboratorio de Genética, Acuicultura & Biodiversidad, Departamento de Ciencias Biológicas y Biodiversidad, Universidad de Los Lagos, Avda, Osorno, Chile.

出版信息

PLoS One. 2022 Aug 18;17(8):e0273330. doi: 10.1371/journal.pone.0273330. eCollection 2022.

Abstract

Intraspecies nucleotide sequence variation is a key to understanding the evolutionary history of a species, such as the geographic distribution and population structure. To date, numerous phylogenetic and population genetics studies have been conducted based on the sequences of a gene or an intergenic region on the mitochondrial genome (mtDNA), such as cytochrome c oxidase subunits or the D-loop. To evaluate the credibility of the usage of such 'classic' markers, we compared the phylogenetic inferences based on the analyses of the partial and entire mtDNA sequences. Importantly, the phylogenetic reconstruction based on the short marker sequences did not necessarily reproduce the tree topologies based on the analyses of the entire mtDNA. In addition, analyses on the datasets of various organisms revealed that the analyses based on the classic markers yielded phylogenetic trees with poor confidence in all tested cases compared to the results based on full-length mtDNA. These results demonstrated that phylogenetic analyses based on complete mtDNA sequences yield more insightful results compared to those based on mitochondrial genes and segments. To ameliorate the shortcomings of the classic markers, we identified a segment of mtDNA that may be used as an 'approximate marker' to closely reproduce the phylogenetic inference obtained from the entire mtDNA in the case of mammalian species, which can be utilized to design amplicon-seq-based studies. Our study demonstrates the importance of the choice of mitochondrial markers for phylogenetic analyses and proposes a novel approach to choosing appropriate markers for mammalian mtDNA that reproduces the phylogenetic inferences obtained from full-length mtDNA.

摘要

种内核苷酸序列变异是理解物种进化历史的关键,例如地理分布和种群结构。迄今为止,已经基于线粒体基因组(mtDNA)上的基因或基因间区域(如细胞色素 c 氧化酶亚基或 D 环)的序列进行了许多系统发育和群体遗传学研究。为了评估此类“经典”标记物的使用可信度,我们比较了基于部分和整个 mtDNA 序列分析的系统发育推断。重要的是,基于短标记序列的系统发育重建不一定能再现基于整个 mtDNA 分析的树拓扑。此外,对各种生物体数据集的分析表明,与基于全长 mtDNA 的结果相比,基于经典标记的分析在所有测试案例中产生的系统发育树置信度都较差。这些结果表明,与基于线粒体基因和片段的分析相比,基于完整 mtDNA 序列的系统发育分析产生的结果更具洞察力。为了改善经典标记的缺点,我们鉴定了一段 mtDNA,它可以作为一种“近似标记”,在哺乳动物物种的情况下,紧密再现从整个 mtDNA 获得的系统发育推断,可用于设计基于扩增子序列的研究。我们的研究证明了选择线粒体标记物进行系统发育分析的重要性,并提出了一种选择与哺乳动物 mtDNA 相似的、重现全长 mtDNA 获得的系统发育推断的新型方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34eb/9387813/33e40b21071e/pone.0273330.g001.jpg

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