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Article

A deafness-associated mitochondrial DNA mutation caused pleiotropic effects on DNA replication and tRNA metabolism.

Nucleic acids research - 9 Sept 2022

Meng Feilong, Jia Zidong, Zheng Jing, Ji Yanchun, Wang Jing, Xiao Yun, Fu Yong, Wang Meng, Ling Feng, Guan Min-Xin

Abstract excerpt

In this report, we investigated the molecular mechanism underlying a deafness-associated m.5783C > T mutation that affects the canonical C50-G63 base-pairing of TΨC stem of tRNACys and immediately adjacent to 5' end of light-strand origin of mitochondrial DNA (mtDNA) replication (OriL). Two dimensional agarose gel electrophoresis revealed marked decreases in the replication intermediates including ascending arm...

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Identifiers

PMID: 36039763
DOI: 10.1093/nar/gkac720
PMCID: PMC9458427

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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