Article
Mitochondrial DNA mosaicism in normal human somatic cells.
Nature genetics - 1 Aug 2024
An Jisong, Nam Chang Hyun, Kim Ryul, Lee Yunah, Won Hyein, Park Seongyeol, Lee Won Hee, Park Hansol, Yoon Christopher J, An Yohan, Kim Jie-Hyun, Jun Jong Kwan, Bae Jeong Mo, Shin Eui-Cheol, Kim Bun, Cha Yong Jun, Kwon Hyun Woo, Oh Ji Won, Park Jee Yoon, Kim Min Jung, Ju Young Seok
Abstract excerpt
Somatic cells accumulate genomic alterations with age; however, our understanding of mitochondrial DNA (mtDNA) mosaicism remains limited. Here we investigated the genomes of 2,096 clones derived from three cell types across 31 donors, identifying 6,451 mtDNA variants with heteroplasmy levels of ≳0.3%. While the majority of these variants were unique to individual clones, suggesting stochastic acquisition with...
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