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What causes mitochondrial DNA deletions in human cells?
Krishnan KJ, Reeve AK, Samuels DC, Chinnery PF, Blackwood JK, Taylor RW, Wanrooij S, Spelbrink JN, Lightowlers RN, Turnbull DM. Krishnan KJ, et al. Among authors: spelbrink jn. Nat Genet. 2008 Mar;40(3):275-9. doi: 10.1038/ng.f.94. Nat Genet. 2008. PMID: 18305478 Review.
Mammalian mitochondrial DNA replication intermediates are essentially duplex but contain extensive tracts of RNA/DNA hybrid.
Pohjoismäki JL, Holmes JB, Wood SR, Yang MY, Yasukawa T, Reyes A, Bailey LJ, Cluett TJ, Goffart S, Willcox S, Rigby RE, Jackson AP, Spelbrink JN, Griffith JD, Crouch RJ, Jacobs HT, Holt IJ. Pohjoismäki JL, et al. Among authors: spelbrink jn. J Mol Biol. 2010 Apr 16;397(5):1144-55. doi: 10.1016/j.jmb.2010.02.029. Epub 2010 Feb 23. J Mol Biol. 2010. PMID: 20184890 Free PMC article.
DNA sequences proximal to human mitochondrial DNA deletion breakpoints prevalent in human disease form G-quadruplexes, a class of DNA structures inefficiently unwound by the mitochondrial replicative Twinkle helicase.
Bharti SK, Sommers JA, Zhou J, Kaplan DL, Spelbrink JN, Mergny JL, Brosh RM Jr. Bharti SK, et al. Among authors: spelbrink jn. J Biol Chem. 2014 Oct 24;289(43):29975-93. doi: 10.1074/jbc.M114.567073. Epub 2014 Sep 5. J Biol Chem. 2014. PMID: 25193669 Free PMC article.
Top3α is the replicative topoisomerase in mitochondrial DNA replication.
Hangas A, Kekäläinen NJ, Potter A, Michell C, Aho KJ, Rutanen C, Spelbrink JN, Pohjoismäki JL, Goffart S. Hangas A, et al. Among authors: spelbrink jn. Nucleic Acids Res. 2022 Aug 26;50(15):8733-8748. doi: 10.1093/nar/gkac660. Nucleic Acids Res. 2022. PMID: 35904803 Free PMC article.
74 results