{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Meng F"],"funding":["Ministry of Science and Technology of China","National Natural Science Foundation of China","National Key Research and Development Program"],"pagination":["9453-9469"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9458427"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["50(16)"],"pubmed_abstract":["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 of Y-fork arcs spanning OriL in the mutant cybrids bearing m.5783C > T mutation. mtDNA replication alterations were further evidenced by decreased levels of PolγA, Twinkle and SSBP1, newly synthesized mtDNA and mtDNA contents in the mutant cybrids. The m.5783C > T mutation altered tRNACys structure and function, including decreased melting temperature, conformational changes, instab"],"journal":["Nucleic acids research"],"pubmed_title":["A deafness-associated mitochondrial DNA mutation caused pleiotropic effects on DNA replication and tRNA metabolism."],"pmcid":["PMC9458427"],"funding_grant_id":["81700922","82030028","2018YFC1004802","2021YFC2700902","82071063"],"pubmed_authors":["Meng F","Wang M","Zheng J","Xiao Y","Ling F","Fu Y","Guan MX","Ji Y","Wang J","Jia Z"],"additional_accession":[]},"is_claimable":false,"name":"A deafness-associated mitochondrial DNA mutation caused pleiotropic effects on DNA replication and tRNA metabolism.","description":"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 of Y-fork arcs spanning OriL in the mutant cybrids bearing m.5783C > T mutation. mtDNA replication alterations were further evidenced by decreased levels of PolγA, Twinkle and SSBP1, newly synthesized mtDNA and mtDNA contents in the mutant cybrids. The m.5783C > T mutation altered tRNACys structure and function, including decreased melting temperature, conformational changes, instab","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Sep","modification":"2025-04-20T00:41:17.134Z","creation":"2025-04-20T00:41:17.134Z"},"accession":"S-EPMC9458427","cross_references":{"pubmed":["36039763"],"doi":["10.1093/nar/gkac720"]}}