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Article

Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes.

Nature - 1 Nov 2022

Wei Wei, Schon Katherine R, Elgar Greg, Orioli Andrea, Tanguy Melanie, Giess Adam, Tischkowitz Marc, Caulfield Mark J, Chinnery Patrick F

Abstract excerpt

DNA transfer from cytoplasmic organelles to the cell nucleus is a legacy of the endosymbiotic event-the majority of nuclear-mitochondrial segments (NUMTs) are thought to be ancient, preceding human speciation1-3. Here we analyse whole-genome sequences from 66,083 people-including 12,509 people with cancer-and demonstrate the ongoing transfer of mitochondrial DNA into the nucleus, contributing to a complex NUMT...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36198798
DOI: 10.1038/s41586-022-05288-7
PMCID: PMC9630118

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