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Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.

Nature - 1 Aug 2023

Gupta Rahul, Kanai Masahiro, Durham Timothy J, Tsuo Kristin, McCoy Jason G, Kotrys Anna V, Zhou Wei, Chinnery Patrick F, Karczewski Konrad J, Calvo Sarah E, Neale Benjamin M, Mootha Vamsi K

Abstract excerpt

Mitochondrial DNA (mtDNA) is a maternally inherited, high-copy-number genome required for oxidative phosphorylation1. Heteroplasmy refers to the presence of a mixture of mtDNA alleles in an individual and has been associated with disease and ageing. Mechanisms underlying common variation in human heteroplasmy, and the influence of the nuclear genome on this variation, remain insufficiently explored. Here we...

Topics

Aged
Humans
DNA Copy Number Variations
DNA, Mitochondrial
Genome-Wide Association Study
Heteroplasmy
Mitochondria
Cell Nucleus
Alleles
Polymorphism, Single Nucleotide

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

INDEL Mutation

G-Quadruplexes

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PMID: 37587338
DOI: 10.1038/s41586-023-06426-5
PMCID: PMC10447254

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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