Intracellular mitochondrial DNA transfers to the nucleus in human cancer cells

Ju, Young Seok

doi:10.1016/j.gde.2016.02.005

Cited by 5 publications

(3 citation statements)

References 64 publications

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“…Several studies have concluded that both insertion and change in copy number of mtDNA fragments are associated with carcinogenesis because mtDNA insertion may disrupt tumor suppressor genes or activate oncogenes, contributing to cancer development. Remarkably, surveys of thousands of human whole-cancer genomes have shown that chromosomal rearrangements are frequently combined with mtDNA fragments somatically transferred to the nucleus (Ju et al 2015;Ju 2016). Mitochondrial fragments have been identified in the c-myc oncogene of HeLa cells (Shay et al 1991).…”

Section: Mtdna Nuclear Insertions Are Involved In Disease and Ageingmentioning

confidence: 99%

Insertions of mitochondrial DNA into the nucleus—effects and role in cell evolution

Puertas

González‐Sánchez

2020

Genome

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We review the insertion of mitochondrial DNA (mtDNA) fragments into nuclear DNA (NUMTS) as a general and ongoing process that has occurred many times during genome evolution. Fragments of mtDNA are generated during the lifetime of organisms in both somatic and germinal cells, by the production of reactive oxygen species in the mitochondria. The fragments are inserted into the nucleus during the double-strand breaks repair via the non-homologous end-joining machinery, followed by genomic instability, giving rise to the high variability observed in NUMT patterns among species, populations, or genotypes. Some de novo produced mtDNA insertions show harmful effects, being involved in human diseases, carcinogenesis, and ageing. NUMT generation is a non-stop process overpassing the Mendelian transmission. This parasitic property ensures their survival even against their harmful effects. The accumulation of mtDNA fragments mainly at pericentromeric and subtelomeric regions is important to understand the transmission and integration of NUMTs into the genomes. The possible effect of female meiotic drive for mtDNA insertions at centromeres remains to be studied. In spite of the harmful feature of NUMTs, they are important in cell evolution, representing a major source of genomic variation.

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Section: Mtdna Nuclear Insertions Are Involved In Disease and Ageingmentioning

confidence: 99%

Insertions of mitochondrial DNA into the nucleus—effects and role in cell evolution

Puertas

González‐Sánchez

2020

Genome

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“…However, the molecular mechanism by which mitochondrial DNA is mobilized and inserted into nuclear genomes has not been fully elucidated. Most somatic nuclear integrations of mitochondrial DNA do not occur alone but are frequently combined with other complex rearrangements, suggesting that mitochondrial DNA fragments could be used as a “filler material” or a string for weaving broken nuclear DNA segments into the DNA repair processes in somatic cells 106 .…”

Section: Chromoplexymentioning

confidence: 99%

Patterns and mechanisms of structural variations in human cancer

2018

Exp Mol Med

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Next-generation sequencing technology has enabled the comprehensive detection of genomic alterations in human somatic cells, including point mutations, chromosomal rearrangements, and structural variations (SVs). Using sophisticated bioinformatics algorithms, unbiased catalogs of SVs are emerging from thousands of human cancer genomes for the first time. Via careful examination of SV breakpoints at single-nucleotide resolution as well as local DNA copy number changes, diverse patterns of genomic rearrangements are being revealed. These “SV signatures” provide deep insight into the mutational processes that have shaped genome changes in human somatic cells. This review summarizes the characteristics of recently identified complex SVs, including chromothripsis, chromoplexy, microhomology-mediated breakage-induced replication (MMBIR), and others, to provide a holistic snapshot of the current knowledge on genomic rearrangements in somatic cells.

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“…Cases of evolutionarily relatively recent, functional organelle gene translocations to the nuclear genome have been described in protists ( sensu lato ) and land plants but not, for instance, in animals or fungi [ 1 , 2 , 3 , 4 , 5 ]. However, integration of organelle or endosymbiont DNA fragments to the nuclear genome (or sometimes transfer of the entire organelle DNA), occurs in almost all eukaryotic organisms, although it usually results in the generation of nuclear pseudogenes of organellar or endosymbiont genes [ 2 , 3 , 5 , 10 , 11 , 12 ]. Such a DNA transfer may also contribute to the development of novel exonic sequences in existing nuclear genes [ 9 , 13 ].…”

Section: Introductionmentioning

confidence: 99%

Intercompartmental Piecewise Gene Transfer

Szafrański

2017

Genes

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Gene relocation from the residual genomes of organelles to the nuclear genome still continues, although as a scaled down evolutionary phenomenon, limited in occurrence mostly to protists (sensu lato) and land plants. During this process, the structural integrity of transferred genes is usually preserved. However, the relocation of mitochondrial genes that code for respiratory chain and ribosomal proteins is sometimes associated with their fragmentation into two complementary genes. Herein, this review compiles cases of piecewise gene transfer from the mitochondria to the nucleus, and discusses hypothesized mechanistic links between the fission and relocation of those genes.

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Intracellular mitochondrial DNA transfers to the nucleus in human cancer cells

Cited by 5 publications

References 64 publications

Insertions of mitochondrial DNA into the nucleus—effects and role in cell evolution

Insertions of mitochondrial DNA into the nucleus—effects and role in cell evolution

Patterns and mechanisms of structural variations in human cancer

Intercompartmental Piecewise Gene Transfer

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