ArticleHuman genetics2019
Mutation signatures in germline mitochondrial genome provide insights into human mitochondrial evolution and disease.
Article in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Article
- Single-mitochondrion sequencing uncovers distinct mutational patterns and heteroplasmy landscape in mouse astrocytes and neurons.BMC biology · 2024Article
- Single-Mitochondrion Sequencing Uncovers Distinct Mutational Patterns and Heteroplasmy Landscape in Mouse Astrocytes and Neurons.bioRxiv : the preprint server for biology · 2024Article
- Heteroplasmy and Individual Mitogene Pools: Characteristics and Potential Roles in Ecological Studies.Biology · 2023Review
- Mutational signature of mtDNA confers mechanistic insight into oxidative metabolism remodeling in colorectal cancer.Theranostics · 2023Article
- Heteroplasmic mitochondrial DNA variants in cardiovascular diseases.PLoS genetics · 2022Article
- A replication-linked mutational gradient drives somatic mutation accumulation and influences germline polymorphisms and genome composition in mitochondrial DNA.Nucleic acids research · 2021Article
- Cell reprogramming shapes the mitochondrial DNA landscape.Nature communications · 2021Article
- Panorama of intron dynamics and gene rearrangements in the phylum Basidiomycota as revealed by the complete mitochondrial genome of Turbinellus floccosus.Applied microbiology and biotechnology · 2021Article
- The mitogenomes of two saprophytic Boletales species (Computational and structural biotechnology journal · 2021Article
- Evolutionary Insights Into Two Widespread Ectomycorrhizal Fungi (Frontiers in microbiology · 2021Article
- Optimized high-fidelity 3DPCR to assess potential mitochondrial targeting by activation-induced cytidine deaminase.FEBS open bio · 2020Article
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Authors and funding
3 authors.
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Abstract
Variations in mitochondrial DNA (mtDNA) have been fundamental for understanding human evolution and are causative for a plethora of inherited mitochondrial diseases, but the mutation signatures of germline mtDNA and their value in understanding mitochondrial pathogenicity remain unknown. Here, we carried out a systematic analysis of mutation patterns in germline mtDNA based on 97,566 mtDNA variants from 45,494 full-length sequences and revealed a highly non-stochastic and replication-coupled mutation signature characterized by nucleotide-specific mutation pressure (G > T>A > C) and position-specific selection pressure, suggesting the existence of an intensive mutation-selection interplay in germline mtDNA. We provide evidence that this mutation-selection interplay has strongly shaped the mtDNA sequence during evolution, which not only manifests as an oriented alteration of amino acid compositions of mitochondrial encoded proteins, but also explains the long-lasting mystery of CpG depletion in mitochondrial genome. Finally, we demonstrated that these insights may be integrated to better understand the pathogenicity of disease-implicated mitochondrial variants.
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