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dc.contributor.authorJu, Young Seok
dc.contributor.authorTubio, Jose M.C.
dc.contributor.authorMifsud, William
dc.contributor.authorFu, Beiyuan
dc.contributor.authorDavies, Helen R.
dc.contributor.authorRamakrishna, Manasa
dc.contributor.authorLi, Yilong
dc.contributor.authorYates, Lucy
dc.contributor.authorGundem, Gunes
dc.contributor.authorTarpey, Patrick S.
dc.contributor.authorBehjati, Sam
dc.contributor.authorPapaemmanuil, Elli
dc.contributor.authorMartin, Sancha
dc.contributor.authorFullam, Anthony
dc.contributor.authorGerstung, Moritz
dc.contributor.authorNangalia, Jyoti
dc.contributor.authorGreen, Anthony R.
dc.contributor.authorCaldas, Carlos
dc.contributor.authorBorg, Åke
dc.contributor.authorTutt, Andrew
dc.contributor.authorMichael Lee, Ming Ta
dc.contributor.authorVan'T Veer, Laura J.
dc.contributor.authorTan, Benita K.T.
dc.contributor.authorAparicio, Samuel
dc.contributor.authorSpan, Paul N.
dc.contributor.authorMartens, John W.M.
dc.contributor.authorKnappskog, Stian
dc.contributor.authorVincent-Salomon, Anne
dc.contributor.authorBørresen-Dale, Anne Lise
dc.contributor.authorEyfjörd, Jórunn Erla
dc.contributor.authorFlanagan, Adrienne M.
dc.contributor.authorFoster, Christopher
dc.contributor.authorNeal, David E.
dc.contributor.authorCooper, Colin
dc.contributor.authorEeles, Rosalind
dc.contributor.authorLakhani, Sunil R.
dc.contributor.authorDesmedt, Christine
dc.contributor.authorThomas, Gilles
dc.contributor.authorRichardson, Andrea L.
dc.contributor.authorPurdie, Colin A.
dc.contributor.authorThompson, Alastair M.
dc.contributor.authorMcDermott, Ultan
dc.contributor.authorYang, Fengtang
dc.contributor.authorNik-Zainal, Serena
dc.contributor.authorCampbell, Peter J.
dc.contributor.authorStratton, Michael R.
dc.contributor.authorICGC Prostate Cancer Working Group
dc.contributor.authorICGC Bone Cancer Working Group
dc.contributor.authorICGC Breast Cancer Working Group
dc.identifier.citationJu , Y S , Tubio , J M C , Mifsud , W , Fu , B , Davies , H R , Ramakrishna , M , Li , Y , Yates , L , Gundem , G , Tarpey , P S , Behjati , S , Papaemmanuil , E , Martin , S , Fullam , A , Gerstung , M , Nangalia , J , Green , A R , Caldas , C , Borg , Å , Tutt , A , Michael Lee , M T , Van'T Veer , L J , Tan , B K T , Aparicio , S , Span , P N , Martens , J W M , Knappskog , S , Vincent-Salomon , A , Børresen-Dale , A L , Eyfjörd , J E , Flanagan , A M , Foster , C , Neal , D E , Cooper , C , Eeles , R , Lakhani , S R , Desmedt , C , Thomas , G , Richardson , A L , Purdie , C A , Thompson , A M , McDermott , U , Yang , F , Nik-Zainal , S , Campbell , P J , Stratton , M R , ICGC Prostate Cancer Working Group , ICGC Bone Cancer Working Group & ICGC Breast Cancer Working Group 2015 , ' Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells ' , Genome Research , vol. 25 , no. 6 , pp. 814-824 .
dc.identifier.otherPURE: 250826182
dc.identifier.otherPURE UUID: 56f7c045-741e-473e-8b25-920ef313c7e0
dc.identifier.otherScopus: 84931830812
dc.identifier.otherORCID: /0000-0002-7876-7338/work/36106410
dc.description.abstractMitochondrial 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.
dc.relation.ispartofGenome Researchen
dc.rights© 2015 Ju et al. This article, published in Genome Research, is available under a Creative Commons License (Attribution 4.0 International), as described at
dc.subjectSDG 3 - Good Health and Well-beingen
dc.titleFrequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cellsen
dc.typeJournal articleen
dc.description.versionPublisher PDFen
dc.contributor.institutionUniversity of St Andrews. School of Medicineen
dc.contributor.institutionUniversity of St Andrews. Statisticsen
dc.description.statusPeer revieweden

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