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

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • DNA, Mitochondrial / genetics
  • Electron Transport Complex IV / genetics
  • Genes, Mitochondrial
  • Genome, Mitochondrial* / genetics
  • Mammals / genetics
  • Phylogeny*

Substances

  • DNA, Mitochondrial
  • Electron Transport Complex IV

Grants and funding

Funding: This research was supported by Science and Technology Research Partnership for Sustainable Development (No. 989459) provided by Japan Science and Technology Agency and Japan International Cooperation Agency to SU and GG, and Priority Areas “Comprehensive Genomics” (No. 221S0002) provided by Japan Society for the Promotion of Science to SU. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.