ArticleNucleic acids research2021
Evidence for multi-copy Mega-NUMTs in the human genome.
Article in Nucleic acids research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed.
- Inheritance and selection of the mitochondrial genome.Nature reviews. Genetics · 2026Review
- Nuclear mitochondrial sequences in great ape telomere-to-telomere genomes.Genome research · 2026Article
- Evolutionary persistence of a highly prevalent multicopy mitochondrial-derived nuclear insertion (Mega-NUMT) in Neotropical Drosophila flies.Molecular biology and evolution · 2026Article
- Instance of a Heteroplasmic Mitogenome in Alvinocaridid ShrimpEcology and evolution · 2026Article
- Robust identification of cell-cell communication heterogeneity in single cells.bioRxiv : the preprint server for biology · 2026Article
- Spatial and Single-Cell Transcriptomics Reveal Keratinocytes as Key Players in Vulvar Lichen Sclerosus Pathogenesis.The Journal of investigative dermatology · 2026Article
- Introgressed mitochondrial fragments from archaic hominins alter nuclear genome function in modern humans.Science advances · 2026Article
- Inference of forensic body fluids/tissues based on mitochondrial DNA copy number: a preliminary study.International journal of legal medicine · 2024Article
- Article
- Yeast EndoG prevents genome instability by degrading extranuclear DNA species.Nature communications · 2024Article
- Somatic nuclear mitochondrial DNA insertions are prevalent in the human brain and accumulate over time in fibroblasts.PLoS biology · 2024Article
- Non-Coding RNAs of Mitochondrial Origin: Roles in Cell Division and Implications in Cancer.International journal of molecular sciences · 2024Review
- Review
- Mitochondrial genome plasticity of mammalian species.BMC genomics · 2024Article
- Yeast EndoG prevents genome instability by degrading cytoplasmic DNA.Research square · 2024Article
- Article
- Precision mitochondrial medicine.Cambridge prisms. Precision medicine · 2023Review
- Mitochondrial polymorphism m.3017C>T of SHLP6 relates to heterothermy.Frontiers in physiology · 2023Article
- Recent advances in forensic biology and forensic DNA typing: INTERPOL review 2019-2022.Forensic science international. Synergy · 2023Article
- Article
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Authors and funding
24 authors.
Funding
Abstract
The maternal mode of mitochondrial DNA (mtDNA) inheritance is central to human genetics. Recently, evidence for bi-parental inheritance of mtDNA was claimed for individuals of three pedigrees that suffered mitochondrial disorders. We sequenced mtDNA using both direct Sanger and Massively Parallel Sequencing in several tissues of eleven maternally related and other affiliated healthy individuals of a family pedigree and observed mixed mitotypes in eight individuals. Cells without nuclear DNA, i.e. thrombocytes and hair shafts, only showed the mitotype of haplogroup (hg) V. Skin biopsies were prepared to generate ρ° cells void of mtDNA, sequencing of which resulted in a hg U4c1 mitotype. The position of the Mega-NUMT sequence was determined by fluorescence in situ hybridization and two different quantitative PCR assays were used to determine the number of contributing mtDNA copies. Thus, evidence for the presence of repetitive, full mitogenome Mega-NUMTs matching haplogroup U4c1 in various tissues of eight maternally related individuals was provided. Multi-copy Mega-NUMTs mimic mixtures of mtDNA that cannot be experimentally avoided and thus may appear in diverse fields of mtDNA research and diagnostics. We demonstrate that hair shaft mtDNA sequencing provides a simple but reliable approach to exclude NUMTs as source of misleading results.
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