Abstract
A variety of endogenous and exogenous factors induce chemical and structural alterations in cellular DNA in addition to the errors occurring throughout DNA synthesis. These types of DNA damage are cytotoxic, miscoding or both and are believed to be at the origin of cancer and other age-related diseases. A human cell, aside from nuclear DNA, contains thousands of copies of mitochondrial DNA (mtDNA), a double-stranded, circular molecule of 16,569 bp. It has been proposed that mtDNA is a critical target of reactive oxygen species: by-products of oxidative phosphorylation that are generated in the organelle during aerobic respiration. Indeed, oxidative damage to mtDNA is more extensive and persistent as compared to that to nuclear DNA. Although transversions are the hallmark of mutations induced by reactive oxygen species, paradoxically, the majority of mtDNA mutations that occur during ageing and cancer are transitions. Furthermore, these mutations show a striking strand orientation bias: T→C/G→A transitions preferentially occur on the light strand, whereas C→T/A→G on the heavy strand of mtDNA. Here, we propose that the majority of mtDNA progenies, created after multiple rounds of DNA replication, are derived from the heavy strand only, owing to asymmetric replication of the DNA strand anchored to the inner membrane via the D-loop structure.
Keywords
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Abbreviations
- 5ohC:
-
5-hydroxycytosine
- 5ohU:
-
5-hydroxyuracil
- 8oxoA:
-
8-oxo-7,8-dihydroadenine
- 8oxoG:
-
8-oxo-7,8-dihydroguanine
- AP site:
-
apurinic/apyrimidinic site
- APEX1 or APE1:
-
major human AP endonuclease 1
- BER:
-
base excision repair
- CPD:
-
cyclobutane pyrimidine dimer
- DNA2:
-
DNA helicase/nuclease 2
- dRP:
-
5′-deoxyribose phosphate
- dsDNA:
-
double-stranded DNA
- ETC:
-
electron transport chain
- Fapy:
-
formamidopyrimidines
- FEN1:
-
DNA flap-structure endonuclease 1
- H-strand:
-
heavy strand of mtDNA
- LigIIIα:
-
DNA ligase IIIα
- LP-BER:
-
long-patch BER
- L-strand:
-
light strand of mtDNA
- MGME1:
-
mitochondrial genome maintenance exonuclease 1
- MMR:
-
mismatch repair
- mtDNA:
-
mitochondrial DNA
- mtSSB:
-
mitochondrial single-stranded DNA binding protein
- MUTYH:
-
human mismatch-specific adenine-DNA glycosylase
- NER:
-
nucleotide excision repair
- NIR:
-
nucleotide incision repair
- NTHL1:
-
human oxidative pyrimidine DNA glycosylase, homologue of Escherichia coli endonuclease III
- OGG1:
-
human 8oxoG-DNA glycosylase
- OXPHOS:
-
oxidative phosphorylation
- PolG:
-
mitochondrial DNA polymerase γ
- POLRMT:
-
mitochondrial RNA polymerase
- RNase H1:
-
ribonuclease H1
- ROS:
-
reactive oxygen species
- SDM:
-
strand displacement model
- SP-BER:
-
short-patch BER
- ssDNA:
-
single-stranded DNA
- TFAM:
-
mitochondrial transcription factor A
- Tg:
-
thymine glycol or 5,6-dihydroxy-5,6-dihydrothymine
- TopoIIIα:
-
Topoisomerase IIIα
- UNG1:
-
human mitochondrial isoform 1 of uracil-DNA glycosylase
- εA:
-
1,N6-ethenoadenine
- εC:
-
3,N4-ethenocytosine
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Acknowledgements
This work was supported by grants to Murat Saparbaev from la Ligue National Contre le Cancer «Equipe Labellisee LIGUE 2016», Electricité de France (RB 2017) and French National Center for Scientific Research (PRC CNRS/RFBR n1074 REDOBER); and to Bakhyt T. Matkarimov from a Nazarbayev University ORAU grant and MES RK grants АР05133910, AP05134683 program BR05236508. The English language was corrected and certified by shevchuk-editing.com.
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Matkarimov, B.T., Saparbaev, M.K. (2020). DNA Repair and Mutagenesis in Vertebrate Mitochondria: Evidence for Asymmetric DNA Strand Inheritance. In: Zharkov, D. (eds) Mechanisms of Genome Protection and Repair. Advances in Experimental Medicine and Biology, vol 1241. Springer, Cham. https://doi.org/10.1007/978-3-030-41283-8_6
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