ArticleProceedings of the National Academy of Sciences of the United States of America2024
Mitochondrial genome copy number variation across tissues in mice and humans.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Development and evaluation of a real-time PCR assay for the detection of bovine Milk in foods.Food chemistry. Molecular sciences · 2026Article
- After delivery: How recipient cells shape the fate and function of transplanted mitochondria.Clinical and translational medicine · 2026Review
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- Higher-order structural organization of mitochondrial metabolism.The Journal of biological chemistry · 2026Review
- Emerging therapeutic strategies for mitochondrial DNA-related diseases.Cell reports. Medicine · 2026Review
- Preserved mitochondrial ribosomal protein gene expression marks a youthful transcriptional state in Chinese nonagenarians and centenarians.Cell reports. Medicine · 2026Article
- Accumulated mtDNA mutations are linked to specific impairments in NADH-linked respiration.iScience · 2026Article
- Intergenerational and organ-specific alterations in mitochondrial DNA copy number following preconception irradiation.Redox biology · 2026Article
- Review
- Augmenting cost-effectiveness in clinical diagnosis using extended whole-exome sequencing: SNVs, SVs, and beyond.Journal of human genetics · 2026Article
- Leucine-rich α-2 glycoprotein 1 is associated with increased mortality risk in patients with peripheral artery disease.Journal of molecular medicine (Berlin, Germany) · 2025Article
- Global perspectives on monogenic forms of diabetes.Diabetologia · 2025Review
- The proton motive force maintains mtDNA euploidy by balancing mtDNA replication with cell proliferation.bioRxiv : the preprint server for biology · 2025Article
- Personalized transcriptional network analysis links age-related loss of gene coordination to individual biological aging.Genome medicine · 2025Article
- MitoScribe single-cell molecular recorder logs graded signaling dynamics into mitochondrial DNA.bioRxiv : the preprint server for biology · 2025Article
- Mitochondrial DNA Copy Number as a Hidden Player in the Progression of Multiple Sclerosis: A Bidirectional Two-Sample Mendelian Randomization Study.Molecular neurobiology · 2025Article
- Allele frequency selection and no age-related increase in human oocyte mitochondrial mutations.Science advances · 2025Article
- Brain-body mitochondrial distribution patterns lack coherence and point to tissue-specific regulatory mechanisms.Life metabolism · 2025Article
- Mitochondrial DNA copy number alterations: Key players in the complexity of glioblastoma (Review).Molecular medicine reports · 2025Review
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Authors and funding
8 authors.
Funding
Abstract
The mammalian mitochondrial genome (mtDNA) is multicopy and its copy number (mtCN) varies widely across tissues, in development and in disease. Here, we systematically catalog this variation by assaying mtCN in 52 human tissues across 952 donors (10,499 samples from the Genotype-Tissue Expression project) and 20 murine tissues using qPCR, capturing 50- and 200-fold variation, respectively. We also estimate per cell mtCN across 173 human cell lines from the Cancer Cell Line Encyclopedia using whole-genome sequencing data and observe >50-fold variation. We then leverage the vast amount of genomics data available for these repositories to credential our resource and uncover mtDNA-related biology. Using already existing proteomics data, we show that variation in mtCN can be predicted by variation in TFAM, histone, and mitochondrial ribosome protein abundance. We also integrate mtCN estimates with the CRISPR gene dependency measurements to find that cell lines with high mtCN are resistant to loss of GPX4, a glutathione phospholipid hydroperoxidase. Our resource captures variation in mtCN across mammalian tissues and should be broadly useful to the research community.
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