Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

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.

Original publication

DOI

10.1101/gr.190470.115

Type

Journal article

Journal

Genome Res

Publication Date

06/2015

Volume

25

Pages

814 - 824

Keywords

Amino Acid Sequence, Cell Line, Tumor, Cell Nucleus, Chromosomes, DNA Copy Number Variations, DNA End-Joining Repair, DNA Replication, DNA, Mitochondrial, Genome, Human, Genome, Mitochondrial, HeLa Cells, Humans, In Situ Hybridization, Fluorescence, Mitochondria, Molecular Sequence Data, Neoplasms, Reproducibility of Results, Sequence Analysis, DNA