A5055559402- Mitochondrial Function and Pathology
- Molecular Biology Techniques and Applications
- Evolution and Genetic Dynamics
- Cancer Genomics and Diagnostics
- DNA Repair Mechanisms
- Genomics and Phylogenetic Studies
- Genetic diversity and population structure
- Physiological and biochemical adaptations
- Fish Ecology and Management Studies
- Metabolomics and Mass Spectrometry Studies
- Genetic and phenotypic traits in livestock
Immanuel Kant Baltic Federal University
2020-2025
Mitochondrial DNA (mtDNA) mutagenesis remains poorly understood despite its crucial role in disease, aging, and evolutionary tracing. In this study, we reconstructed a comprehensive 192-component mtDNA mutational spectrum for chordates by analyzing 118,397 synonymous mutations the CytB gene across 1,697 species five classes. This analysis revealed three primary forces shaping mutagenesis: (i) symmetrical, replication-driven errors mitochondrial polymerase (POLG), resulting C > T A G that are...
Abstract The mutational spectrum of the mitochondrial DNA (mtDNA) does not resemble any known signatures nuclear genome and variation in mtDNA spectra between different organisms is still incomprehensible. Since mitochondria are responsible for aerobic respiration, it expected that affected by oxidative damage. Assuming damage increases with age, we analyse mutagenesis species regards to their generation length. Analysing, (i) dozens thousands somatic mutations samples ages (ii) 70053...
Abstract To elucidate the primary factors shaping mitochondrial DNA (mtDNA) mutagenesis, we derived a comprehensive 192-component mtDNA mutational spectrum using 86,149 polymorphic synonymous mutations reconstructed from CytB gene of 967 chordate species. The analysis provided numerous findings on repair and mutation processes, breaking it down into three main signatures: (i) symmetrical, evenly distributed across both strands, mutations, induced by gamma polymerase (about 50% all...
ABSTRACT The variation in the mutational spectrum of mitochondrial genome (mtDNA) among species is not well understood. Recently, we demonstrated an increase A>G substitutions on a heavy chain (hereafter A H >G ) mtDNA aged mammals, interpreting it as hallmark age-related oxidative damage. In this study, hypothesized that occurrence may depend level aerobic metabolism, which can be inferred from organism’s body temperature. To test hypothesis, used temperature endotherms and...
Abstract The mutational spectrum of the mitochondrial DNA (mtDNA) does not resemble any known signatures nuclear genome and variation in mtDNA spectra between different organisms is still incomprehensible. Since mitochondria tightly involved aerobic energy production, it expected that affected by oxidative damage. Assuming damage increases with age, we analyze mutagenesis species. Analysing (i) dozens thousands somatic mutations samples age (ii) 70053 polymorphic synonymous substitutions,...
Abstract The process of domestication is associated with decrease in effective population size, which turn leads to accumulation slightly-deleterious mutations due genetic drift. To maintain genome quality at a high level, we propose use stress-induced strong purifying selection, based on negative epistasis, can effectively eliminate organisms an excess deleterious variants. Here, identify stress factors, interact the effect performed proof-of-principle experiment several regimes heat shock....
Mitochondria is a double-membrane organelle, which always under pressure of reactive oxygen species. Those molecules are the main reason for Ah > Gh (h — heavy strand) mutation both in fishes [1] and mammals [2]. H
The deep mutational spectrum (MS), an informative representation of de novo mutations with contextual data, offers valuable biological insights into the primary sources ofmutations across diverse genes, cancers, and species. However, reconstructing a comprehensive demands substantial which is often lacking for non-model To address this challenge, we present novel approach integrating sparse species-specific mitochondrial DNA (mtDNA) spectra based on 122,031 polymorphic reconstructed...