Mitochondrial genetic variation is enriched in G-quadruplex regions that stall DNA synthesis in vitro.

doi:10.1093/hmg/ddaa043

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Mitochondrial genetic variation is enriched in G-quadruplex regions that stall DNA synthesis in vitro.

Human molecular genetics - 28 May 2020

Butler Thomas J, Estep Katrina N, Sommers Joshua A, Maul Robert W, Moore Ann Zenobia, Bandinelli Stefania, Cucca Francesco, Tuke Marcus A, Wood Andrew R, Bharti Sanjay Kumar, Bogenhagen Daniel F, Yakubovskaya Elena, Garcia-Diaz Miguel, Guilliam Thomas A, Byrd Alicia K, Raney Kevin D, Doherty Aidan J, Ferrucci Luigi, Schlessinger David, Ding Jun, Brosh Robert M

Abstract excerpt

As the powerhouses of the eukaryotic cell, mitochondria must maintain their genomes which encode proteins essential for energy production. Mitochondria are characterized by guanine-rich DNA sequences that spontaneously form unusual three-dimensional structures known as G-quadruplexes (G4). G4 structures can be problematic for the essential processes of DNA replication and transcription because they deter normal...

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Identifiers

PMID: 32191790
DOI: 10.1093/hmg/ddaa043
PMCID: PMC7254849

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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