Cell type-specific purifying selection of synonymous mitochondrial DNA variation.

doi:10.1073/pnas.2505704122

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Article

Cell type-specific purifying selection of synonymous mitochondrial DNA variation.

Proceedings of the National Academy of Sciences of the United States of America - 29 Jul 2025

Lareau Caleb A, Maschmeyer Patrick, Yin Yajie, Gutierrez Jacob C, Dhindsa Ryan S, Gribling-Burrer Anne-Sophie, Zielinski Sebastian, Hsieh Yu-Hsin, Nitsch Lena, Dimitrova Veronika, Nalbant Benan, Buquicchio Frank A, Abay Tsion, Stickels Robert R, Ulirsch Jacob C, Yan Patrick, Wang Fangyi, Miao Zhuang, Sandor Katalin, Daniel Bence, Liu Vincent, Mendez Paul L, Knaus Petra, Meyer Manpreet, Greenleaf William J, Kundaje Anshul, Smyth Redmond P, Munschauer Mathias, Ludwig Leif S, Satpathy Ansuman T

Abstract excerpt

While somatic variants are well-characterized drivers of tumor evolution, their influence on cellular fitness in nonmalignant contexts remains understudied. We identified a mosaic synonymous variant (m.7076A > G) in the mitochondrial DNA (mtDNA)-encoded cytochrome c-oxidase subunit 1 (MT-CO1, p.Gly391=), present at homoplasmy in 47% of immune cells from a healthy donor. Single-cell multiomics revealed strong,...

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PMID: 40705423
DOI: 10.1073/pnas.2505704122
PMCID: PMC12318227

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