ArticleScientific reports2015
MitoRCA-seq reveals unbalanced cytocine to thymine transition in Polg mutant mice.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 27 citations in OpenAlex.
- Development of mitochondrial mutator pigs exhibiting increased mitochondrial DNA mutations and premature aging via prime editing.Science advances · 2026Article
- Single-cell multi-omic analysis of mitochondrial mutational mosaicism and dynamics.Nature communications · 2026Article
- Single-cell mitochondrial lineage tracing: Opportunities and challenges.Quantitative biology (Beijing, China) · 2026Review
- MitoCOMON: whole mitochondrial DNA sequencing by primer design and long overlapping amplicon assembly.BMC genomics · 2025Article
- Single-cell individual full-length mtDNA sequencing by iMiGseq uncovers unexpected heteroplasmy shifts in mtDNA editing.Nucleic acids research · 2023Article
- Comparison of mitochondrial DNA sequences from whole blood and lymphoblastoid cell lines.Scientific reports · 2022Article
- Mitophagy in the basolateral amygdala mediates increased anxiety induced by aversive social experience.Neuron · 2021Article
- The mtDNA mutation spectrum in the PolG mutator mouse reveals germline and somatic selection.BMC genomic data · 2021Article
- Mitochondrial mutations in Caenorhabditis elegans show signatures of oxidative damage and an AT-bias.Genetics · 2021Article
- Unbiased PCR-free spatio-temporal mapping of the mtDNA mutation spectrum reveals brain region-specific responses to replication instability.BMC biology · 2020Article
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- The mitochondrial type IB topoisomerase drives mitochondrial translation and carcinogenesis.Nature communications · 2019Article
- Concentration of mitochondrial DNA mutations by cytoplasmic transfer from platelets to cultured mouse cells.PloS one · 2019Article
- Deleterious mitochondrial DNA point mutations are overrepresented in Drosophila expressing a proofreading-defective DNA polymerase γ.PLoS genetics · 2018Article
- Deep sequencing of the mitochondrial genome reveals common heteroplasmic sites in NADH dehydrogenase genes.Human genetics · 2018Article
- Calorie restriction does not influence oocyte quality in oocytes from POLG mitochondrial mutator mice.PloS one · 2018Article
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Corrections and comments
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Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
Abstract
Mutations in mitochondrial DNA (mtDNA) can lead to a wide range of human diseases. We have developed a deep sequencing strategy, mitoRCA-seq, to detect low-frequency mtDNA point mutations starting with as little as 1 ng of total DNA. It employs rolling circle amplification, which enriches the full-length circular mtDNA by either custom mtDNA-specific primers or a commercial kit, and minimizes the contamination of nuclear encoded mitochondrial DNA (Numts). By analyzing the mutation profiles of wild-type and Polg (mitochondrial DNA polymerase γ) mutant mice, we found that mice with the proofreading deficient mtDNA polymerase have a significantly higher mutation load by expanding the number of mutation sites and to a lesser extent by elevating the mutation frequency at existing sites even before the premature aging phenotypes appear. Strikingly, cytocine (C) to thymine (T) transitions are found to be overrepresented in the mtDNA of Polg mutated mice. The C → T transition, compared to other types of mutations, tends to increase the hydrophobicity of the underlying amino acids, and may contribute to the impaired protein function of the Polg mutant mice. Taken together, our findings may provide clues to further investigate the molecular mechanism underlying premature aging phenotype in Polg mutant mice.
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