ArticleNucleic acids research2023
Quantitative haplotype-resolved analysis of mitochondrial DNA heteroplasmy in Human single oocytes, blastoids, and pluripotent stem cells.
Article in Nucleic acids research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- Stable bioreactor control reveals acidic pH-driven metabolic reprogramming and mitochondrial dysfunction in human lymphoblastoid cells.Communications biology · 2026Article
- Single-organelle DNA-sequencing of chloroplasts and mitochondria in Arabidopsis thaliana.BMC plant biology · 2026Article
- deepBlastoid: a deep learning model for automated and efficient evaluation of human blastoids.Life medicine · 2025Article
- Mitogenomic Alterations in Breast Cancer: Identification of Potential Biomarkers of Risk and Prognosis.International journal of molecular sciences · 2025Article
- Clonal expansion dictates the efficacy of mitochondrial lineage tracing in single cells.Genome biology · 2025Article
- Prevalent integration of genomic repetitive and regulatory elements and donor sequences at CRISPR-Cas9-induced breaks.Communications biology · 2025Article
- Analysis of Mutational Burden of Mitochondrial Genome in Cells of Different Human Organs and Tissues.Current medicinal chemistry · 2025Review
- Article
- Abnormalities of Oocyte Maturation: Mechanisms and Implications.International journal of molecular sciences · 2024Review
- Characterization and trans-generation dynamics of mitogene pool in the silver carp (Hypophthalmichthys molitrix).G3 (Bethesda, Md.) · 2024Article
- Article
- Mitochondrial DNA mosaicism in normal human somatic cells.Nature genetics · 2024Article
- Correction of a homoplasmic mitochondrial tRNA mutation in patient-derived iPSCs via a mitochondrial base editor.Communications biology · 2023Article
- Novel single-cell mtDNA sequencing technology reveals hidden mutations in oocytes, blastoids, and stem cells.Life medicine · 2023Article
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Maternal mitochondria are the sole source of mtDNA for every cell of the offspring. Heteroplasmic mtDNA mutations inherited from the oocyte are a common cause of metabolic diseases and associated with late-onset diseases. However, the origin and dynamics of mtDNA heteroplasmy remain unclear. We used our individual Mitochondrial Genome sequencing (iMiGseq) technology to study mtDNA heterogeneity, quantitate single nucleotide variants (SNVs) and large structural variants (SVs), track heteroplasmy dynamics, and analyze genetic linkage between variants at the individual mtDNA molecule level in single oocytes and human blastoids. Our study presented the first single-mtDNA analysis of the comprehensive heteroplasmy landscape in single human oocytes. Unappreciated levels of rare heteroplasmic variants well below the detection limit of conventional methods were identified in healthy human oocytes, of which many are reported to be deleterious and associated with mitochondrial disease and cancer. Quantitative genetic linkage analysis revealed dramatic shifts of variant frequency and clonal expansions of large SVs during oogenesis in single-donor oocytes. iMiGseq of a single human blastoid suggested stable heteroplasmy levels during early lineage differentiation of naïve pluripotent stem cells. Therefore, our data provided new insights of mtDNA genetics and laid a foundation for understanding mtDNA heteroplasmy at early stages of life.
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