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Extreme heterogeneity of human mitochondrial DNA from organelles to populations

Lookup NU author(s): Dr Jim StewartORCiD, Professor Patrick Chinnery



This is the authors' accepted manuscript of a review published in its final definitive form in 2021. For re-use rights please refer to the publishers terms and conditions.


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 or suppressed in the maternal germ line. These findings cast light on the origin and spread of mtDNA mutations at multiple scales, from the organelle to the human population, and challenge the conventional view that high percentages of a mutation are required before a new variant has functional consequences.

Publication metadata

Author(s): Stewart JB, Chinnery PF

Publication type: Review

Publication status: Published

Journal: Nature Reviews Genetics

Year: 2021

Volume: 22

Issue: 2

Pages: 106–118

Print publication date: 01/02/2021

Online publication date: 28/09/2020

Acceptance date: 25/08/2020

ISSN (print): 1471-0056

ISSN (electronic): 1471-0064


DOI: 10.1038/s41576-020-00284-x

PubMed id: 32989265