Genomics

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


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 non-homologous end joining and/or replication-dependent DNA double strand break repair are the dominant mechanism involved. This study includes 12 pairs of whole-genome sequences (tumour and paired-normal), which present somatic mitochondrial DNA integrations in tumour genomes. Reference: Young Seok Ju et al., Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells, Genome Research (2015).

PROVIDER: EGAS00001001234 | EGA |

REPOSITORIES: EGA

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

Ju Young Seok YS   Tubio Jose M C JM   Mifsud William W   Fu Beiyuan B   Davies Helen R HR   Ramakrishna Manasa M   Li Yilong Y   Yates Lucy L   Gundem Gunes G   Tarpey Patrick S PS   Behjati Sam S   Papaemmanuil Elli E   Martin Sancha S   Fullam Anthony A   Gerstung Moritz M   Nangalia Jyoti J   Green Anthony R AR   Caldas Carlos C   Borg Åke Å   Tutt Andrew A   Lee Ming Ta Michael MT   van't Veer Laura J LJ   Tan Benita K T BK   Aparicio Samuel S   Span Paul N PN   Martens John W M JW   Knappskog Stian S   Vincent-Salomon Anne A   Børresen-Dale Anne-Lise AL   Eyfjörd Jórunn Erla JE   Myklebost Ola O   Flanagan Adrienne M AM   Foster Christopher C   Neal David E DE   Cooper Colin C   Eeles Rosalind R   Bova Steven G SG   Lakhani Sunil R SR   Desmedt Christine C   Thomas Gilles G   Richardson Andrea L AL   Purdie Colin A CA   Thompson Alastair M AM   McDermott Ultan U   Yang Fengtang F   Nik-Zainal Serena S   Campbell Peter J PJ   Stratton Michael R MR  

Genome research 20150511 6


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  ...[more]

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