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Article

The bottleneck for maternal transmission of mtDNA is linked to purifying selection by autophagy.

Science advances - 14 Nov 2025

Kremer Laura S, Golder Zoe, Barton-Owen Tom, Papadea Polyxeni, Koolmeister Camilla, Chinnery Patrick F, Larsson Nils-Göran

Abstract excerpt

Mammalian mitochondrial DNA (mtDNA) inheritance differs fundamentally from nuclear inheritance owing to exclusive maternal transmission, high mutation rate, and lack of recombination. Two key mechanisms shape this inheritance: the bottleneck, which drives stochastic transmission of maternal mtDNA variants, and purifying selection, which actively removes mutant mtDNA. Whether these mechanisms interact has been...

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Identifiers

PMID: 41223274
DOI: 10.1126/sciadv.aea4660
PMCID: PMC12609065

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