ArticleGenome research2015
Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells.
Erratum issuedOpen access · bronzeAbstract read
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Article in Genome research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 67 papers.
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67citing papers in PubMed
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67 citing papers in PubMed, 170 citations in OpenAlex.
- Nuclear mitochondrial sequences in great ape telomere-to-telomere genomes.Genome research · 2026Article
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- A long-read human pangenome initiative for comprehensive interpretation of nuclear-embedded mitochondrial DNA.Nature communications · 2026Article
- Long-read MitoScope reveals tissue-resolved somatic mitochondrial variation and landscape of nuclear-embedded mitochondrial sequences.bioRxiv : the preprint server for biology · 2026Article
- Mitochondria transfer: intercellular communication and tumor microenvironment dynamics.Cell communication and signaling : CCS · 2026Review
- The Complete Mitogenome of Haemaphysalis parva (Arachnida: Ixodidae) and Comparative Mitogenomics of Haemaphysalis Species.Acta parasitologica · 2026Article
- Advances in gene therapy for mitochondrial genetic disorders: current status and clinical implementation challenges.Journal of translational medicine · 2025Review
- Telomere-to-telomere genome assembly of the Dipteran Bactrocera dorsalis from a single individual.Nature communications · 2025Article
- Identification of a novel RSPO1-NUMT insertion in a LUAD patient cohort and the challenges and insights into NUMT detection highlighting the importance of reference genomes and population databases.Translational lung cancer research · 2025Article
- Continuous infiltration and evolutionary trajectory of nuclear organelle DNA inGenome research · 2025Article
- Sequencing and characterizing human mitochondrial genomes in the biobank-based genomic research paradigm.Science China. Life sciences · 2025Review
- RPA and Rad27 limit templated and inverted insertions at DNA breaks.Nucleic acids research · 2025Article
- Mitochondrial DNA alterations in precision oncology: Emerging roles in diagnostics and therapeutics.Clinics (Sao Paulo, Brazil) · 2025Review
- Transfer of mitochondrial DNA into the nuclear genome during induced DNA breaks.Nature communications · 2024Article
- Targeting mitochondria: a novel approach for treating platinum-resistant ovarian cancer.Journal of translational medicine · 2024Review
- A comprehensive atlas of nuclear sequences of mitochondrial origin (NUMT) inserted into the pig genome.Genetics, selection, evolution : GSE · 2024Article
- Yeast EndoG prevents genome instability by degrading extranuclear DNA species.Nature communications · 2024Article
- Single-mitochondrion sequencing uncovers distinct mutational patterns and heteroplasmy landscape in mouse astrocytes and neurons.BMC biology · 2024Article
- Non-Coding RNAs of Mitochondrial Origin: Roles in Cell Division and Implications in Cancer.International journal of molecular sciences · 2024Review
7 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
51 authors at 20 institutions in 15 countries.
Young Seok JuCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;
Jose M C TubioCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;
William MifsudCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;
Beiyuan FuCytogenetics Facility, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;
Helen R DaviesCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;
Manasa RamakrishnaCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;
Yilong LiCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;
Lucy YatesCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;
Gunes GundemCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;
Patrick S TarpeyCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;
Sam BehjatiCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;
Elli PapaemmanuilCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;
Sancha MartinCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;
Anthony FullamCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;
Moritz GerstungCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;
ICGC Prostate Cancer Working Group
ICGC Bone Cancer Working Group
ICGC Breast Cancer Working Group
Jyoti NangaliaCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom; Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, United Kingdom; Department of Haematology, University of Cambridge, Cambridge CB2 0XY, United Kingdom;
Anthony R GreenCambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, United Kingdom; Department of Haematology, University of Cambridge, Cambridge CB2 0XY, United Kingdom;
Carlos CaldasCambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, United Kingdom; Cancer Research UK (CRUK) Cambridge Institute, University of Cambridge, Cambridge CB2 0RE, United Kingdom;
Åke BorgBioCare, Strategic Cancer Research Program, SE-223 81 Lund, Sweden; CREATE Health, Strategic Centre for Translational Cancer Research, SE-221 00 Lund, Sweden; Department of Oncology and Pathology, Lund University Cancer Center, SE-221 85 Lund, Sweden;
Andrew TuttBreakthrough Breast Cancer Research Unit, Research Oncology, King's College London, Guy's Hospital, London SE1 9RT, United Kingdom;
Ming Ta Michael LeeLaboratory for International Alliance on Genomic Research, RIKEN Center for Integrative Medical Sciences, 230-0045 Yokohama, Japan; National Center for Genome Medicine, Institute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan;
Laura J van't VeerDepartment of Laboratory Medicine, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, California 94158, USA; Netherlands Cancer Institute, 1066 CX Amsterdam, Netherlands;
Benita K T TanDepartment of General Surgery, Singapore General Hospital, Singapore 169608;
Samuel AparicioDepartment of Molecular Oncology, British Columbia Cancer Agency, Vancouver V5Z 1L3, Canada;
Paul N SpanDepartment of Radiation Oncology and Department of Laboratory Medicine, Radboud University Medical Center, 6525 HP Nijmegen, Netherlands;
John W M MartensDepartment of Medical Oncology, Erasmus MC Cancer Institute, Erasmus University Medical Center, 3015 CE Rotterdam, Netherlands;
Stian KnappskogSection of Oncology, Department of Clinical Science, University of Bergen, N-5020 Bergen, Norway; Department of Oncology, Haukeland University Hospital, 5021 Bergen, Norway;
Anne Vincent-SalomonInstitut Curie, INSERM U934 and Department of Tumor Biology, 75248 Paris cédex 05, France;
Anne-Lise Børresen-DaleDepartment of Genetics, Institute for Cancer Research, Oslo University Hospital, The Norwegian Radium Hospital, Montebello, 0310 Oslo, Norway; The K.G. Jebsen Center for Breast Cancer Research, Institute for Clinical Medicine, Faculty of Medicine, University of Oslo, 0450 Oslo, Norway;
Jórunn Erla EyfjördCancer Research Laboratory, University of Iceland, 101 Reykjavik, Iceland;
Ola Myklebost
Adrienne M FlanaganRoyal National Orthopaedic Hospital, Middlesex HA7 4LP, United Kingdom; UCL Cancer Institute, University College London, London WC1E 6DD, United Kingdom;
Christopher FosterUniversity of Liverpool and HCA Pathology Laboratories, London WC1E 6JA, United Kingdom;
David E NealUrological Research Laboratory, Cancer Research UK Cambridge Research Institute, Cambridge CB2 0RE, United Kingdom; Department of Surgical Oncology, University of Cambridge, Addenbrooke's Hospital, Cambridge CB2 0QQ, United Kingdom;
Colin CooperInstitute of Cancer Research, Sutton, London SM2 5NG, United Kingdom; Department of Biological Sciences and School of Medicine, University of East Anglia, Norwich NR4 7TJ, United Kingdom;
Rosalind EelesDivision of Genetics and Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, United Kingdom; Royal Marsden NHS Foundation Trust, London SW3 6JJ and Sutton SM2 5PT, United Kingdom;
Steven G Bova
Sunil R LakhaniUniversity of Queensland, School of Medicine, Brisbane, QLD 4006, Australia; Pathology Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia; University of Queensland, UQ Centre for Clinical Research, Brisbane, QLD 4029, Australia;
Christine DesmedtBreast Cancer Translational Research Laboratory, Université Libre de Bruxelles, Institut Jules Bordet, 1000 Brussels, Belgium;
Gilles ThomasUniversité Lyon 1, Institut National du Cancer (INCa)-Synergie, 69008 Lyon, France;
Andrea L RichardsonDana-Farber Cancer Institute, Boston, Massachusetts 02215, USA; Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA;
Colin A PurdieDepartment of Pathology, Ninewells Hospital and Medical School, Dundee DD1 9SY, United Kingdom;
Alastair M ThompsonDepartment of Surgical Oncology, University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA.
Ultan McDermottCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;
Fengtang YangCytogenetics Facility, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;
Serena Nik-ZainalCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;
Peter J CampbellCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;
Michael R StrattonCancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;
Wellcome Sanger Institute · GBUniversity of Cambridge · GBBC Cancer Agency · CAOslo University Hospital · NORadboud University Nijmegen · NLSingapore General Hospital · SGUniversité Claude Bernard Lyon 1 · FRUniversity of East Anglia · GBBrigham and Women's Hospital · USCambridge University Hospitals NHS Foundation Trust · GBCancer Research UK · GBGuy's Hospital · GBInstitut Jules Bordet · BELund University · SENorwegian Cancer Society · NORoyal Marsden NHS Foundation Trust · GBThe University of Texas MD Anderson Cancer Center · USUniversité Libre de Bruxelles · BEUniversity of California, San Francisco · USUniversity of Iceland · IS
Funding
Cancer Research UK 12765Cancer Research UK 14835Cancer Research UK 15007Cancer Research UK 16942Cancer Research UK 17528Cancer Research UK 20406Cancer Research UK C5047/A14835Wellcome Trust
Abstract
Mitochondrial genomes are separated from the nuclear genome for most of the cell cycle by the nuclear double membrane, intervening cytoplasm, and the mitochondrial double membrane. Despite these physical barriers, we show that somatically acquired mitochondrial-nuclear genome fusion sequences are present in cancer cells. Most occur in conjunction with intranuclear genomic rearrangements, and the features of the fusion fragments indicate that nonhomologous end joining and/or replication-dependent DNA double-strand break repair are the dominant mechanisms involved. Remarkably, mitochondrial-nuclear genome fusions occur at a similar rate per base pair of DNA as interchromosomal nuclear rearrangements, indicating the presence of a high frequency of contact between mitochondrial and nuclear DNA in some somatic cells. Transmission of mitochondrial DNA to the nuclear genome occurs in neoplastically transformed cells, but we do not exclude the possibility that some mitochondrial-nuclear DNA fusions observed in cancer occurred years earlier in normal somatic cells.
Indexed as
Genome, HumanAmino Acid SequenceCell Line, TumorCell NucleusChromosomesDNA Copy Number VariationsDNA End-Joining RepairDNA, MitochondrialDNA ReplicationGenome, MitochondrialHeLa CellsHumansIn Situ Hybridization, FluorescenceMitochondriaMolecular Sequence DataNeoplasmsDNA, Mitochondrial
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