Phylogenetics and Mitochondrial Evolution

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Population and Evolutionary Genetics and Genomics".

Deadline for manuscript submissions: closed (20 July 2023) | Viewed by 4434

Special Issue Editors


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Guest Editor
Department of Biology, Northeastern University, Boston, MA 02115, USA
Interests: basic biology of aging; dynamics of intracellular mitochondrial population; nuclear pseudogenes of mtDNA - NUMTs; human evolution; somatic mitochondrial DNA mutations, their abundance and relevance to human aging and disease
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Guest Editor
Scientific Collaborator in the School of Life Sciences, Ecole Polytechnique Fédérale de Lausanne, 1015 Lausanne, Switzerland
Interests: mitochondrial genome; evolution; ageing, mutational spectra; slightly-deleterious mutations; effective population size

Special Issue Information

Dear Colleagues,

The recent Nobel prize in Physiology and Medicine has been awarded to Swante Paabo for the research on human evolution, which cumulated in the discovery of gene exchange between human tree branches, e.g., modern humans and Neanderthals. This research critically depends on the methodology of sequencing ancient DNA, developed by the laureate. Today such analyses mostly employ nuclear DNA sequences. For some time, however, this field has been driven by phylogenic studies of mtDNA, which resulted, for example, in one of the most spectacular discoveries in this field, the recent Mitochondrial Eve. Interestingly, this discovery did not use ancient DNA sequencing. Today, when entire ancient nuclear genomes are commonly available for analysis, mtDNA seems doomed. However, mtDNA may still mainain its superiority in certain applications.

For example, recent work (Genes 2022, 13(5), 810; https://doi.org/10.3390/genes13050810) demonstrated the power of the combination of mtDNA phylogeny with the phylogeny of NUMTs, 'mtDNA sequence fossils', which have been stored in the nucleus with little change for millions of years. It enabled the discovery of extremely ancient hybridization events in human evolution (~6My ago), far preceding more recent hybridizations between humans and Neanderthals, the discovery of which was a part of the Nobel research.

Another exciting aspect of mtDNA evolution is that mtDNA mutations may be of particular concern for Muller's Ratchet phenomenon. Much attention has been devoted to the mechanism of inheritance of mtDNA mutations—the nature of the mtDNA bottleneck and the selective mechanisms that are responsible for the removal of detrimental mutations—germline selection. Surprisingly, despite much work having been performed in the past, there is still no consensus on these questions. Recently, 'intraorganismal' phylogenic analyses of mtDNA somatic mutations were used to follow somatic cell lineages in development. Similar approaches may be useful for studies of mtDNA bottleneck and inheritance.

For this Special Issue, we will present state-of-the-art work in Phylogenetics and Mitochondrial Evolution, assembling the most recent advances in our field in one place.

Prof. Dr. Konstantin Khrapko
Dr. Konstantin Popadin
Guest Editors

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Keywords

  • mitochondrial evolution
  • tree reconstruction
  • phylogenetics
  • phylogenomics
  • phylotranscriptomics
  • mitochondrial inheritance
  • germline selection
  • mitochondrial bottleneck
  • mutational spectra
  • synonymity amalysis

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Published Papers (2 papers)

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Research

16 pages, 1686 KiB  
Article
Refining the Global Phylogeny of Mitochondrial N1a, X, and HV2 Haplogroups Based on Rare Mitogenomes from Croatian Isolates
by Dubravka Havaš Auguštin, Jelena Šarac, Maere Reidla, Erika Tamm, Blaženka Grahovac, Miljenko Kapović, Natalija Novokmet, Pavao Rudan, Saša Missoni, Damir Marjanović and Marina Korolija
Genes 2023, 14(8), 1614; https://doi.org/10.3390/genes14081614 - 12 Aug 2023
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Abstract
Mitochondrial DNA (mtDNA) has been used for decades as a predominant tool in population genetics and as a valuable addition to forensic genetic research, owing to its unique maternal inheritance pattern that enables the tracing of individuals along the maternal lineage across numerous [...] Read more.
Mitochondrial DNA (mtDNA) has been used for decades as a predominant tool in population genetics and as a valuable addition to forensic genetic research, owing to its unique maternal inheritance pattern that enables the tracing of individuals along the maternal lineage across numerous generations. The dynamic interplay between evolutionary forces, primarily genetic drift, bottlenecks, and the founder effect, can exert significant influence on genetic profiles. Consequently, the Adriatic islands have accumulated a subset of lineages that exhibits remarkable absence or rarity within other European populations. This distinctive genetic composition underscores the islands’ potential as a significant resource in phylogenetic research, with implications reaching beyond regional boundaries to contribute to a global understanding. In the initial attempt to expand the mitochondrial forensic database of the Croatian population with haplotypes from small isolated communities, we sequenced mitogenomes of rare haplogroups from different Croatian island and mainland populations using next-generation sequencing (NGS). In the next step and based on the obtained results, we refined the global phylogeny of haplogroup N1a, HV2, and X by analyzing rare haplotypes, which are absent from the current phylogenetic tree. The trees were based on 16 novel and 52 previously published samples, revealing completely novel branches in the X and HV2 haplogroups and a new European cluster in the ancestral N1a variant, previously believed to be an exclusively African–Asian haplogroup. The research emphasizes the importance of investigating geographically isolated populations and their unique characteristics within a global context. Full article
(This article belongs to the Special Issue Phylogenetics and Mitochondrial Evolution)
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16 pages, 2163 KiB  
Article
Evolutionary Rates, Divergence Rates, and Performance of Individual Mitochondrial Genes Based on Phylogenetic Analysis of Copepoda
by Junzong He, Zhihao Zhou, Yan Huang, Jinmei Feng, Wenxiang Li, Guitang Wang and Congjie Hua
Genes 2023, 14(7), 1496; https://doi.org/10.3390/genes14071496 - 22 Jul 2023
Cited by 2 | Viewed by 1772
Abstract
Copepoda is a large and diverse group of crustaceans, which is widely distributed worldwide. It encompasses roughly 9 orders, whose phylogeny remains unresolved. We sequenced the complete mitochondrial genome (mitogenome) of Sinergasilus major (Markevich, 1940) and used it to explore the phylogeny and [...] Read more.
Copepoda is a large and diverse group of crustaceans, which is widely distributed worldwide. It encompasses roughly 9 orders, whose phylogeny remains unresolved. We sequenced the complete mitochondrial genome (mitogenome) of Sinergasilus major (Markevich, 1940) and used it to explore the phylogeny and mitogenomic evolution of Copepoda. The mitogenome of S. major (14,588 bp) encodes the standard 37 genes as well as a putative control region, and molecular features are highly conserved compared to other Copepoda mitogenomes. Comparative analyses indicated that the nad2 gene has relatively high nucleotide diversity and evolutionary rate, as well as the largest amount of phylogenetic information. These results indicate that nad2 may be a better marker to investigate phylogenetic relationships among closely related species in Copepoda than the commonly used cox1 gene. The sister-group relationship of Siphonostomatoida and Cyclopoida was recovered with strong support in our study. The only topological ambiguity was found within Cyclopoida, which might be caused by the rapid evolution and sparse taxon sampling of this lineage. More taxa and genes should be used to reconstruct the Copepoda phylogeny in the future. Full article
(This article belongs to the Special Issue Phylogenetics and Mitochondrial Evolution)
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