Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells

Ju, Young Seok, Tubio, Jose M.C, Mifsud, William, Fu, Beiyuan, Davies, Helen R, Ramakrishna, Manasa, Li, Yilong, Yates, Lucy, Gundem, Gunes, Tarpey, Patrick S, Behjati, Sam, Papaemmanuil, Elli, Martin, Sancha, Fullam, Anthony, Gerstung, Moritz, Nangalia, Jyoti, Green, Anthony R, Caldas, Carlos, Borg, Ake, Tutt, Andrew, Michael Lee, Ming Ta, Van'T Veer, Laura J, Tan, Benita K.T, Aparicio, Samuel, Span, Paul N, Martens, John W.M, Knappskog, Stian, Vincent-Salomon, Ann, Borresen-Dale, Anne-Lise, Eyfjord, Jorunn Erla, Flanagan, Adrienne M, Foster, Christopher, Neal, David E, Cooper, Colin, Eeles, Rosalind, Lakhani, Sunil R, Desmedt, Christine, Thomas, Gilles, Richardson, Andrea L, Purdie, Colin A, Thompson, Alastair M, McDermott, Ultan, Yang, Fengtang, Nik-Zainal, Serena, Campbell, Peter J, Stratton, Michael R, ICGC Prostate Cancer Working Group, ICGC Bone Cancer Working Group, ICGC Breast Cancer Working Group and Simpson, Peter (2015) Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells. Genome Research, 25 6: 814-824. doi:10.1101/gr.190470.115

Author Ju, Young Seok
Tubio, Jose M.C
Mifsud, William
Fu, Beiyuan
Davies, Helen R
Ramakrishna, Manasa
Li, Yilong
Yates, Lucy
Gundem, Gunes
Tarpey, Patrick S
Behjati, Sam
Papaemmanuil, Elli
Martin, Sancha
Fullam, Anthony
Gerstung, Moritz
Nangalia, Jyoti
Green, Anthony R
Caldas, Carlos
Borg, Ake
Tutt, Andrew
Michael Lee, Ming Ta
Van'T Veer, Laura J
Tan, Benita K.T
Aparicio, Samuel
Span, Paul N
Martens, John W.M
Knappskog, Stian
Vincent-Salomon, Ann
Borresen-Dale, Anne-Lise
Eyfjord, Jorunn Erla
Flanagan, Adrienne M
Foster, Christopher
Neal, David E
Cooper, Colin
Eeles, Rosalind
Lakhani, Sunil R
Desmedt, Christine
Thomas, Gilles
Richardson, Andrea L
Purdie, Colin A
Thompson, Alastair M
McDermott, Ultan
Yang, Fengtang
Nik-Zainal, Serena
Campbell, Peter J
Stratton, Michael R
ICGC Prostate Cancer Working Group
ICGC Bone Cancer Working Group
ICGC Breast Cancer Working Group
Simpson, Peter
Title Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells
Journal name Genome Research   Check publisher's open access policy
ISSN 1549-5469
Publication date 2015-05-11
Year available 2015
Sub-type Article (original research)
DOI 10.1101/gr.190470.115
Open Access Status DOI
Volume 25
Issue 6
Start page 814
End page 824
Total pages 11
Place of publication Cold Spring Harbor, New York, United States
Publisher Cold Spring Harbor Laboratory Press
Language eng
Subject 1311 Genetics
2716 Genetics (clinical)
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.
Keyword Biochemistry & Molecular Biology
Biotechnology & Applied Microbiology
Genetics & Heredity
Biochemistry & Molecular Biology
Biotechnology & Applied Microbiology
Genetics & Heredity
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID 12765
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: UQ Centre for Clinical Research Publications
Official 2016 Collection
School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 17 times in Thomson Reuters Web of Science Article | Citations
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