Article

Nuclear genetic control of mtDNA copy number and heteroplasmy in humans

2023-01-19

Abstract excerpt

Human mitochondria contain a high copy number, maternally transmitted genome (mtDNA) that encodes 13 proteins required for oxidative phosphorylation. Heteroplasmy arises when multiple mtDNA variants co-exist in an individual and can exhibit complex dynamics in disease and in aging. As all proteins involved in mtDNA replication and maintenance are nuclear-encoded, heteroplasmy levels can, in principle, be under nuc...

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Literature Corpus work: 3d270ec1-0491-59b5-8220-51f31789c35f
DOI: 10.1101/2023.01.19.23284696

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