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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.
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
URL: https://doi.org/10.1038/s41576-020-00284-x
DOI: 10.1038/s41576-020-00284-x
PubMed id: 32989265