Article
A replication-linked mutational gradient drives somatic mutation accumulation and influences germline polymorphisms and genome composition in mitochondrial DNA.
Nucleic acids research - 8 Nov 2021
Sanchez-Contreras Monica, Sweetwyne Mariya T, Kohrn Brendan F, Tsantilas Kristine A, Hipp Michael J, Schmidt Elizabeth K, Fredrickson Jeanne, Whitson Jeremy A, Campbell Matthew D, Rabinovitch Peter S, Marcinek David J, Kennedy Scott R
Abstract excerpt
Mutations in mitochondrial DNA (mtDNA) cause maternally inherited diseases, while somatic mutations are linked to common diseases of aging. Although mtDNA mutations impact health, the processes that give rise to them are under considerable debate. To investigate the mechanism by which de novo mutations arise, we analyzed the distribution of naturally occurring somatic mutations across the mouse and human mtDNA...
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