References
- Anderson S, Bankier AT, Barrell BG, De Bruijn MH, Coulson AR, Drouin J, Eperon IC, et al. (1981). Sequence and organization of the human mitochondrial genome. Nature 290:457–65
- Bannwarth S, Abbassi M, Valero R, Fragaki K, Dubois N, Vialettes B, Paquis-Flucklinger V. (2011). A novel unstable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness. Diabetes Care 34:2591–3
- Boiteux S, Laval J. (1982). Coding properties of poly(deoxycytidylic acid) templates containing uracil or apyrimidinic sites: In vitro modulation of mutagenesis by deoxyribonucleic acid repair enzymes. Biochemistry 21:6746–51
- Copeland WC, Longley MJ. (2003). DNA polymerase gamma in mitochondrial DNA replication and repair. Sci World J 3:34–44
- Friedberg EC, Feaver WJ, Gerlach VL. (2000). The many faces of DNA polymerases: Strategies for mutagenesis and for mutational avoidance. Proc Natl Acad Sci USA 97:5681–3
- Ggarcia-Gomez S, Reyes A, Martinez-Jimenez MI, Chocron ES, Mouron S, Terrados G, Powell C, et al. (2013). PrimPol, an archaic primase/polymerase operating in human cells. Mol Cell 52:541–53
- Gentil A, Renault G, Madzak C, Margot A, Cabral-Neto JB, Vasseur JJ, Rayner B, et al. (1990). Mutagenic properties of a unique abasic site in mammalian cells. Biochem Biophys Res Commun 173:704–10
- Gibbs PE, Lawrence CW. (1995). Novel mutagenic properties of abasic sites in Saccharomyces cerevisiae. J Mol Biol 251:229–36
- Guillet M, Boiteux S. (2002). Endogenous DNA abasic sites cause cell death in the absence of Apn1, Apn2 and Rad1/Rad10 in Saccharomyces cerevisiae. EMBO J 21:2833–41
- Guilliam TA, Jozwiakowski SK, Ehlinger A, Barnes RP, Rudd SG, Bailey LJ, Skehel JM, et al. (2015). Human PrimPol is a highly error-prone polymerase regulated by single-stranded DNA binding proteins. Nucleic Acids Res 43:1056–68
- Herrmann JM, Longen S, Weckbecker D, Depuydt M. (2012). Biogenesis of mitochondrial proteins. Adv Exp Med Biol 748:41–64
- Ho SN, Hunt HD, Horton RM, Pullen JK, Pease LR. (1989). Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene 77:51–9
- Kavli B, Slupphaug G, Mol CD, Arvai AS, Peterson SB, Tainer JA, Krokan HE. (1996). Excision of cytosine and thymine from DNA by mutants of human uracil-DNA glycosylase. EMJO J 15:3442–7
- Krokan HE, Bjoras M. (2013). Base excision repair. Cold Spring Harb Perspect Biol 5:a012583
- Kunkel TA, Schaaper RM, Loeb LA. (1983). Depurination-induced infidelity of deoxyribonucleic acid synthesis with purified deoxyribonucleic acid replication proteins in vitro. Biochemistry 22:2378–84
- Lindahl T, Nyberg B. (1972). Rate of depurination of native deoxyribonucleic acid. Biochemistry 11:3610–18
- Liu P, Qian L, Sung JS, de Souza-Pinto NC, Zheng L, Bogenhagen DF, Bohr VA, et al. (2008). Removal of oxidative DNA damage via FEN1-dependent long-patch base excision repair in human cell mitochondria. Mol Cell Biol 28:4975–87
- Loeb LA, Preston BD. (1986). Mutagenesis by apurinic/apyrimidinic sites. Annu Rev Genet 20:201–30
- Maassen JA, Janssen GM, ‘t Hart LM. (2005). Molecular mechanisms of mitochondrial diabetes (MIDD). Ann Med 37:213–21
- Milone M. (2012). Mitochondria, diabetes, and Alzheimer's disease. Diabetes 61:991–2
- Nair DT, Johnson RE, Prakash L, Prakash S, Aggarwal AK. (2009). DNA synthesis across an abasic lesion by human DNA polymerase iota. Structure 17:530–7
- Nakamura J, Walker VE, Upton PB, Chiang SY, Kow YW, Swenberg JA. (1998). Highly sensitive apurinic/apyrimidinic site assay can detect spontaneous and chemically induced depurination under physiological conditions. Cancer Res 58:222–5
- Neto JB, Gentil A, Cabral RE, Sarasin A. (1992). Mutation spectrum of heat-induced abasic sites on a single-stranded shuttle vector replicated in mammalian cells. J Biol Chem 267:19718–23
- Noll T, Wissemann P, Mertens S, Krutzfeldt A, Spahr R, Piper HM. (1990). Hypoxia tolerance of coronary endothelial cells. Adv Exp Med Biol 277:467–76
- Pinz KG, Shibutani S, Bogenhagen DF. (1995). Action of mitochondrial DNA polymerase gamma at sites of base loss or oxidative damage. J Biol Chem 270:9202–6
- Rebelo AP, Williams SL, Moraes CT. (2009). In vivo methylation of mtDNA reveals the dynamics of protein–mtDNA interactions. Nucleic Acids Res 37:6701–15
- Sambrook J, Russel DW. (2001). Molecular cloning. A laboratory manual. New York: Cold Spring Harbor Laboratory Press
- Schaaper RM, Kunkel TA, Loeb LA. (1983). Infidelity of DNA synthesis associated with bypass of apurinic sites. Proc Natl Acad Sci USA 80:487–91
- Schapira AH. (2012). Mitochondrial diseases. Lancet 379:1825–34
- Shibutani S, Takeshita M, Grollman AP. (1997). Translesional synthesis on DNA templates containing a single abasic site. A mechanistic study of the “A rule”. J Biol Chem 272:13916–22
- Shokolenko I, Venediktova N, Bochkareva A, Wilson GL, Alexeyev MF. (2009). Oxidative stress induces degradation of mitochondrial DNA. Nucleic Acids Res 37:2539–48
- Shokolenko IN, Wilson GL, Alexeyev MF. (2013). Persistent damage induces mitochondrial DNA degradation. DNA Repair (Amst) 12:488–99
- Strauss BS. (2002). The “specificity” rule revisited: Polymerases as determinants of mutational specificity. DNA Repair (Amst) 1:125–35
- Supale S, Li N, Brun T, Maechler P. (2012). Mitochondrial dysfunction in pancreatic β cells. Trends Endocrinol Metab 23:477–87
- Tang M, Shen X, Frank EG, O'Donnell M, Woodgate R, Goodman MF. (1999). UmuD'(2)C is an error-prone DNA polymerase, Escherichia coli pol V. Proc Natl Acad Sci USA 96:8919–24
- Villani G, Hubscher U, Gironis N, Parkkinen S, Pospiech H, Shevelev I, Dicicco G, et al. (2011). In vitro gap-directed translesion DNA synthesis of an abasic site involving human DNA polymerases epsilon, lambda, and beta. J Biol Chem 286:32094–104
- Wallace DC. (2012). Mitochondria and cancer. Nat Rev Cancer 12:685–98
- Ylikallio E, Suomalainen A. (2012). Mechanisms of mitochondrial diseases. Ann Med 44:41–59
- Yu M. (2012). Somatic mitochondrial DNA mutations in human cancers. Adv Clin Chem 57:99–138
- Yu SL, Lee SK, Johnson RE, Prakash L, Prakash S. (2003). The stalling of transcription at abasic sites is highly mutagenic. Mol Cell Biol 23:382–8
- Zheng J, Ji Y, Guan MX. (2012). Mitochondrial tRNA mutations associated with deafness. Mitochondrion 12:406–13
- Zufferey R, Nagy D, Mandel RJ, Naldini L, Trono D. (1997). Multiply attenuated lentiviral vector achieves efficient gene delivery in vivo. Nat Biotechnol 15:871–5