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Article

Extreme heterogeneity of human mitochondrial DNA from organelles to populations.

Nature reviews. Genetics - 1 Feb 2021

Stewart James B, Chinnery Patrick F

Abstract excerpt

Contrary to the long-held view that most humans harbour only identical mitochondrial genomes, deep resequencing has uncovered unanticipated extreme genetic variation within mitochondrial DNA (mtDNA). Most, if not all, humans contain multiple mtDNA genotypes (heteroplasmy); specific patterns of variants accumulate in different tissues, including cancers, over time; and some variants are preferentially passed down...

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PMID: 32989265
DOI: 10.1038/s41576-020-00284-x

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