Extreme heterogeneity of human mitochondrial DNA from organelles to populations

Stewart, J.; Chinnery, P. F.

doi:10.1038/s41576-020-00284-x

Item

ITEM ACTIONSEXPORT

Add to Basket

Local TagsRelease HistoryDetailsSummary

Released

Journal Article

Extreme heterogeneity of human mitochondrial DNA from organelles to populations

MPS-Authors

/persons/resource/persons129358

Stewart, J.
Stewart – Mitochondrial Mutations and Genome Co-evolution, Research Groups, Max Planck Institute for Biology of Ageing, Max Planck Society;

External Resource

https://www.ncbi.nlm.nih.gov/pubmed/32989265
(Any fulltext)

Fulltext (restricted access)

There are currently no full texts shared for your IP range.

Fulltext (public)

There are no public fulltexts stored in PuRe

Supplementary Material (public)

There is no public supplementary material available

Citation

Stewart, J., & Chinnery, P. F. (2021). Extreme heterogeneity of human mitochondrial DNA from organelles to populations. Nat Rev Genet, 22(2), 106-118. doi:10.1038/s41576-020-00284-x.

Cite as: https://hdl.handle.net/21.11116/0000-000A-FADE-3

Abstract

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.