Mitochondrial mutagenesis in human cells and tissues

On the Origin of Cancer Cells

1956 • 12,141 citations

Sequence and organization of the human mitochondrial genome

1981 • 9,348 citations

Instability and decay of the primary structure of DNA

1993 • 5,370 citations

DNA Repair and Mutagenesis

2006 • 4,725 citations

Rapid evolution of animal mitochondrial DNA.

1979 • 3,420 citations

Mitochondrial Diseases in Man and Mouse

1999 • 3,008 citations

Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

1988 • 2,368 citations

Insertion of specific bases during DNA synthesis past the oxidation-damaged base 8-oxodG

1991 • 2,172 citations

A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

1990 • 2,006 citations

8-Hydroxyguanine, an abundant form of oxidative DNA damage, causes G-T and A-C substitutions.

1992 • 1,830 citations

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1988 • 1,806 citations

Mitochondrial DNA damage is more extensive and persists longer than nuclear DNA damage in human cells following oxidative stress

1997 • 1,762 citations

Normal oxidative damage to mitochondrial and nuclear DNA is extensive.

1988 • 1,709 citations

The cellular production of hydrogen peroxide

1972 • 1,526 citations

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

1990 • 1,390 citations

Maternal inheritance of human mitochondrial DNA.

1980 • 1,327 citations

MITOCHONDRIAL DNA MUTATIONS AS AN IMPORTANT CONTRIBUTOR TO AGEING AND DEGENERATIVE DISEASES

1989 • 1,179 citations

MITOCHONDRIAL DNA MAINTENANCE IN VERTEBRATES

1997 • 1,037 citations

Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome

1989 • 1,009 citations

Possible Relevance of O–6 Alkylation of Deoxyguanosine to the Mutagenicity and Carcinogenicity of Nitrosamines and Nitrosamides

1969 • 949 citations

Oxidative Decay of DNA

1997 • 938 citations

MUTAGENESIS BY APURINIC/APYRIMIDINIC SITES

1986 • 884 citations

Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age

1992 • 878 citations

Somatic mutations of the mitochondrial genome in human colorectal tumours

1998 • 828 citations

Detection of a specific mitochondrial DNA deletion in tissues of older humans

1990 • 784 citations

Mutagenic deamination of cytosine residues in DNA

1980 • 761 citations

Deletions of mitochondrial DNA in Kearns‐Sayre syndrome

1988 • 730 citations

Heat-induced deamination of cytosine residues in deoxyribonucleic acid

1974 • 725 citations

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

1995 • 711 citations

FIDELITY MECHANISMS IN DNA REPLICATION

1991 • 709 citations

Mechanistic studies of ionizing radiation and oxidative mutagenesis: genetic effects of a single 8-hydroxyguanine (7-hydro-8-oxoguanine) residue inserted at a unique site in a viral genome

1990 • 687 citations

Paternal inheritance of mitochondrial DNA in mice

1991 • 674 citations

Mitochondrial DNA molecules and virtual number of mitochondria per cell in mammalian cells

1988 • 637 citations

A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues.

1992 • 633 citations

The human gene mutation database

1998 • 607 citations

Exchanges between DNA strands in ultraviolet-irradiated Escherichia coli

1971 • 582 citations

Mitochondrial mutations may increase oxidative stress: Implications for carcinogenesis and aging?

1990 • 563 citations

DNA Glycosylases, Endonucleases for Apurinic/Apyrimidinic Sites, and Base Excision-Repair

1979 • 562 citations

MITOMAP: a human mitochondrial genome database--2004 update

2004 • 561 citations

The Absence of a Pyrimidine Dimer Repair Mechanism in Mammalian Mitochondria

1974 • 517 citations

Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

1988 • 509 citations

Repair of Oxidative Damage to Nuclear and Mitochondrial DNA in Mammalian Cells

1997 • 508 citations

Fidelity of DNA polymerases in DNA amplification.

1989 • 487 citations

MOLECULAR GENETIC ASPECTS OF HUMAN MITOCHONDRIAL DISORDERS

1995 • 486 citations

A model for replication repair in mammalian cells

1976 • 443 citations

Oxidative damage to DNA: Formation, measurement, and biological significance

1997 • 431 citations

Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice

1997 • 388 citations

A point mutation in the mitochondrial tRNALeu(UUR) gene in melas (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)

1990 • 361 citations

Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease

1992 • 354 citations

Characterization of insertion mutations in the Saccharomyces cerevisiae MSH1 and MSH2 genes: evidence for separate mitochondrial and nuclear functions.

1992 • 353 citations

Effect of age and caloric restriction on DNA oxidative damage in different tissues of C57BL/6 mice

1994 • 346 citations

Über den Stoffwechsel von Tumoren im Körper

1926 • 337 citations

Analyses of mitochondrial respiratory chain function and mitochondrial DNA deletion in human skeletal muscle: Effect of ageing

1992 • 329 citations

Decline with age of the respiratory chain activity in human skeletal muscle

1994 • 325 citations

Circular Dimer and Catenate Forms of Mitochondrial DNA in Human Leukaemic Leucocytes

1967 • 323 citations

Insertion of nucleotides opposite apurinic apyrimidinic sites in deoxyribonucleic acid during in vitro synthesis: uniqueness of adenine nucleotides

1983 • 320 citations

Genetic and functional changes in mitochondria associated with aging

1997 • 311 citations

Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

1989 • 303 citations

Nuclear and mitochondrial uracil-DNA glycosylases are generated by alternative splicing and transcription from different positions in the UNG gene

1997 • 301 citations

Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy.

1992 • 298 citations

Age-associated oxygen damage and mutations in mitochondrial DNA in human hearts

1992 • 284 citations

Cloning and Characterization of the Human Mitochondrial DNA Polymerase, DNA Polymerase γ

1996 • 277 citations

Mammalian Mitochondria Possess Homologous DNA Recombination Activity

1996 • 275 citations

Cytochrome-c-oxidase deficient cardiomyocytes in the human heart--an age-related phenomenon. A histochemical ultracytochemical study.

1989 • 275 citations

Mitochondrial targeting of human DNA glycosylases for repair of oxidative DNA damage

1998 • 275 citations

Repair of mitochondrial DNA after various types of DNA damage in Chinese hamster ovary cells

1992 • 269 citations

The ‘A rule’ of mutagen specificity: A consequence of DNA polymerase bypass of non‐instructional lesions?

1991 • 260 citations

Thymine glycols and urea residues in M13 DNA constitute replicative blocksin vitro

1985 • 258 citations

Release of 7-methylguanine residues whose imidazole rings have been opened from damaged DNA by a DNA glycosylase from Escherichla coli

1979 • 257 citations

Differential accumulations of 4,977 bp deletion in mitochondrial DNA of various tissues in human ageing

1994 • 253 citations

DNA synthesis with methylated poly(dC-dG) templates. Evidence for a competitive nature to miscoding by

1979 • 247 citations

Ageing-associated 5 kb deletion in human liver mitochondrial DNA

1991 • 247 citations

The fate of 8-methoxypsoralen photoinduced crosslinks in nuclear and mitochondrial yeast DNA: comparison of wild-type and repair-deficient strains.

1982 • 240 citations

Sequence analysis of cDNAs for the human and bovine ATP synthase ? subunit: mitochondrial DNA genes sustain seventeen times more mutations

1987 • 237 citations

Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR

1992 • 237 citations

Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies

1991 • 234 citations

Mitochondrial DNA Is a Major Cellular Target for a Dihydrodiol-Epoxide Derivative of Benzo[ a ]pyrene

1980 • 228 citations

Isolation and characterization of two Saccharomyces cerevisiae genes encoding homologs of the bacterial HexA and MutS mismatch repair proteins.

1992 • 221 citations

Identification of 5′-deoxyribose phosphate lyase activity in human DNA polymerase γ and its role in mitochondrial base excision repair in vitro

1998 • 220 citations

Heat-induced depyrimidination of deoxyribonucleic acid in neutral solution

1973 • 213 citations

Persistence of pyrimidine dimers during post-replication repair in ultraviolet light-irradiated Escherichia coli K12

1974 • 210 citations

Mitochondrial DNA copy number in bovine oocytes and somatic cells

1982 • 208 citations

Genetic effects of thymine glycol: site-specific mutagenesis and molecular modeling studies.

1989 • 204 citations

Isolation and partial characterization of human cell mutants differing in sensitivity to killing and mutation by methylnitrosourea and N-methyl-N'-nitro-N-nitrosoguanidine.

1986 • 203 citations

Age-associated accumulation of 8-hydroxydeoxyguanosine in mitochondrial DNA of human diaphragm

1991 • 203 citations

Covalent binding of polycyclic aromatic compounds to mitochondrial and nuclear DNA

1980 • 201 citations

Mitochondrial DNA in mortal and immortal human cells. Genome number, integrity, and methylation.

1983 • 197 citations

Rearranged mitochondrial genes in the yeast nuclear genome

1983 • 196 citations

Preferential Attack of Mitochondrial DNA by Aflatoxin B ₁ During Hepatocarcinogenesis

1982 • 191 citations

Efficient Repair of Abasic Sites in DNA by Mitochondrial Enzymes

1998 • 191 citations

Reverse chemical mutagenesis: identification of the mutagenic lesions resulting from reactive oxygen species-mediated damage to DNA.

1994 • 189 citations

Similar genes for a mitochondrial ATPase subunit in the nuclear and mitochondrial genomes of Neurospora crassa

1982 • 186 citations

Mitochondrial mutational spectra in human cells and tissues

1997 • 181 citations

Cell-by-cell scanning of whole mitochondrial genomes in aged human heart reveals a significant fraction of myocytes with clonally expanded deletions

1999 • 176 citations

Repair of oxidative damage within the mitochondrial DNA of RINr 38 cells.

1993 • 175 citations

Characterization of the Native and Recombinant Catalytic Subunit of Human DNA Polymerase γ: Identification of Residues Critical for Exonuclease Activity and Dideoxynucleotide Sensitivity

1998 • 173 citations

Extensive polymorphism in the mitochondrial DNA of apes.

1981 • 170 citations

Constant denaturant capillary electrophoresis (CDCE): a high resolution approach to mutational anaylsis

1994 • 169 citations

Exonucleolytic proofreading enhances the fidelity of DNA synthesis by chick embryo DNA polymerase-gamma.

1988 • 167 citations

Mutations in mitochondrial DNA accumulate differentially in three different human tissues during ageing

1998 • 167 citations

Mitochondrial gene mutation: the ageing process and degenerative diseases.

1990 • 166 citations

Novel mitochondrial DNA deletion found in a renal cell carcinoma

1996 • 161 citations

Microsatellite instability in the mitochondrial DNA of colorectal carcinomas: Evidence for mismatch repair systems in mitochondrial genome

1998 • 156 citations

Preferential mitochondrial DNA injury caused by glucose oxidase as a steady generator of hydrogen peroxide in human fibroblasts

1997 • 154 citations

Repair of alkali-labile sites within the mitochondrial DNA of RINr 38 cells after exposure to the nitrosourea streptozotocin.

1991 • 153 citations

An Oxidative Damage-specific Endonuclease from Rat Liver Mitochondria

1997 • 152 citations

In vivo human somatic mutation: frequency and spectrum with age

1992 • 152 citations

Mitochondrial endonuclease activities specific for apurinic/apyrimidinic sites in DNA from mouse cells.

1988 • 152 citations

Late‐onset mitochondrial myopathy

1995 • 148 citations

Methylation pattern of mouse mitochondrial DNA

1984 • 147 citations

Report of the committee on human mitochondrial DNA

1990 • 146 citations

Ring-opened 7-methylguanine residues in DNA are a block to in vitro DNA synthesis

1988 • 142 citations

Mitochondrial genome damage associated with cigarette smoking.

1996 • 140 citations

Differential methylation of mitochondrial and nuclear DNA in cultured mouse, hamster and virus-transformed hamster cells In vivo and in vitro methylation

1973 • 138 citations

Nuclear and mitochondrial forms of human uracil-DNA glycosylase are encoded by the same gene

1993 • 134 citations

Constant denaturant gel electrophoresis, a modification of denaturing gradient gel electrophoresis, in mutation detection

1991 • 134 citations

Occurrence of a Particular Base Substitution (3243 A to G) in Mitochondrial DNA of Tissues of Ageing Humans

1993 • 134 citations

The Fidelity of DNA Polymerase β during Distributive and Processive DNA Synthesis

1999 • 134 citations

Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems

1995 • 132 citations

Mutagenesis, tumorigenicity, and apoptosis: are the mitochondria involved?

1998 • 132 citations

Preferential alkylation of mitochondrial deoxyribonucleic acid by N-methyl-N-nitrosourea

1970 • 130 citations

Human aging is associated with stochastic somatic mutations of mitochondrial DNA

1995 • 125 citations

Modelling the effects of age-related mtDNA mutation accumulation; Complex I deficiency, superoxide and cell death

1995 • 124 citations

Action of Mitochondrial DNA Polymerase γ at Sites of Base Loss or Oxidative Damage

1995 • 123 citations

Spontaneous deamination of cytosine and 5-methylcytosine residues in DNA and replacement of 5-methylcytosine residues with cytosine residues

1990 • 123 citations

High levels of mitochondrial DNA deletions in skeletal muscle of old rhesus monkeys

1995 • 123 citations

An analysis of in vivo hprt mutant frequency in circulating T-lymphocytes in the normal human population: a comparison of four datasets

1994 • 111 citations

Cloning and sequencing of the PIF gene involved in repair and recombination of yeast mitochondrial DNA.

1987 • 111 citations

Quantitative analysis of age-associated accumulation of mitochondrial DNA with deletion in human hearts

1991 • 110 citations

The presence of nuclear and mitochondrial uracil-DNA glycosylase in extracts of human KB cells.

1980 • 109 citations

Double strand break rejoining by mammalian mitochondrial extracts

1999 • 107 citations

New evidence for the insertion of mitochondrial DNA into the human genome: significance for cancer and aging

1992 • 104 citations

MITOMAP: a human mitochondrial genome database--1998 update

1998 • 104 citations

Regulation of expression of nuclear and mitochondrial forms of human uracil-DNA glycosylase

1998 • 103 citations

Presence of mitochondrial-DNA-like sequences in the human nuclear DNA

1983 • 102 citations

Mitochondrial DNA polymerases from yeast to man: a new family of polymerases

1997 • 102 citations

7-Methylguanine adducts in DNA are normally present at high levels and increase on aging: analysis by HPLC with electrochemical detection.

1988 • 99 citations

Changes in skeletal muscle, heart and liver mitochondrial electron transport activities in rats and dogs of various ages.

1993 • 99 citations

Detection of somatic mutations in the mitochondrial DNA control region of colorectal and gastric tumors by heteroduplex and single‐strand conformation analysis

1997 • 98 citations

Repair of alkylated purines in the hepatic DNA of mitochondria and nuclei in the rat

1988 • 98 citations

Human Aging is Associated with Various Point Mutations in tRNA Genes of Mitochondrial DNA

1993 • 96 citations

COMPLEX MITOCHONDRIAL DNA IN LEUKEMIC AND NORMAL HUMAN MYELOID CELLS

1969 • 94 citations

Purification of All Forms of HeLa Cell Mitochondrial DNA and Assessment of Damage to It Caused by Hydrogen Peroxide Treatment of Mitochondria or Cells

1995 • 94 citations

Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging.

1996 • 92 citations

Diving Bradycardia and Withdrawal Bradycardia in Caiman crocodilus

1969 • 91 citations

Purification of nuclear and mitochondrial uracil-DNA glycosylase from rat liver. Identification of two distinct subcellular forms

1985 • 87 citations

Homogenous repair of singlet oxygen-induced DNA damage in differentially transcribed regions and strands of human mitochondrial DNA

1998 • 82 citations

Mutational spectra in human B-cells

1992 • 81 citations

Fidelity and Mutational Spectrum of Pfu DNA Polymerase on a Human Mitochondrial DNA Sequence

1997 • 81 citations

Formation of 8-hydroxyguanine residues in cellular DNA exposed to the carcinogen 4-nitroquinoline 1-oxide

1986 • 81 citations

Mapping frequencies of endogenous oxidative damage and the kinetic response to oxidative stress in a region of rat mtDNA

1997 • 80 citations

DNA repair of UV photoproducts and mutagenesis in human mitochondrial DNA

1997 • 79 citations

Mammalian mitochondrial endonuclease activities specific for ultraviolet-irradiated DNA

1990 • 79 citations

Age-Associated Alterations of the Mitochondrial Genome

1997 • 77 citations

Studies on nitrosodimethylamine: Preferential methylation of mitochondrial DNA in rats and hamsters

1972 • 77 citations

Interaction of benzo(a)pyrene and its dihydrodiol-epoxide derivative with nuclear and mitochondrial DNA in C3H10T 1/2 cell cultures.

1982 • 76 citations

Comparison of Oxidative Base Damage in Mitochondrial and Nuclear DNA

1998 • 75 citations

Mitochondrial DNA and nuclear DNA from normal rat liver have a common sequence.

1983 • 75 citations

[38] Detection and quantification of oxidative adducts of mitochondrial DNA

1996 • 75 citations

Gene- and strand-specific damage and repair in Chinese hamster ovary cells treated with 4-nitroquinoline 1-oxide.

1992 • 72 citations

Gene-specific nuclear and mitochondrial repair of formamidopyrimidine DNA glycosylase-sensitive sites in Chinese hamster ovary cells

1996 • 71 citations

Preferential binding of cisplatin to mitochondrial DNA of Chinese hamster ovary cells

1995 • 71 citations

Differential occurrence of mutations in mitochondrial DNA of human skeletal muscle during aging

1998 • 71 citations

Repair and mutagenic potency of 8-oxoG:A and 8-oxoG:C base pairs in mammalian cells

1998 • 70 citations

Exonucleolytic proofreading by a mammalian DNA polymerase .gamma.

1989 • 70 citations

An established avian fibroblast cell line without mitochondrial DNA

1986 • 70 citations

Enzymatic removal of O6-ethylguanine from mitochondrial DNA in rat tissues exposed to N-ethyl-N-nitrosourea in vivo.

1988 • 70 citations

Preferential binding of cisplatin to mitochondrial DNA and suppression of ATP generation in human malignant melanoma cells.

1990 • 64 citations

Defective repair of oxidative damage in the mitochondrial DNA of a xeroderma pigmentosum group A cell line.

1996 • 60 citations

Mutational spectrometry without phenotypic selection: human mitochondrial DNA

1997 • 60 citations

Mutation, cell kinetics, and subpopulations at risk for colon cancer in the United States

1998 • 58 citations

Selection by genetic transformation of a Saccharomyces cerevisiae mutant defective for the nuclear uracil-DNA-glycosylase

1986 • 58 citations

The mutagenic potential of DNA double-strand break repair

1998 • 55 citations

Fragmentation of Human Heart Mitochondrial DNA Associated with Premature Aging

1994 • 53 citations

Mapping large spontaneous deletion endpoints in the human HPRT gene

1988 • 52 citations

Quantification of oxidative DNA modifications in mitochondria

1993 • 51 citations

Purification and properties of a single strand-specific endonuclease from mouse cell mitochondria

1986 • 49 citations

Cellular Localization of the Apurinic/Apyrimidinic Endodeoxyribonucleases in Rat Liver

1980 • 48 citations

Repair of N-methylpurines in the mitochondrial DNA of xeroderma pigmentosum complementation group D cells

1993 • 47 citations

Conserved features of yeast and mammalian mitochondrial DNA replication

1993 • 44 citations

Efficient in vitro repair of 7-hydro-8-oxodeoxyguanosine by human cell extracts: involvement of multiple pathways

1998 • 43 citations

DNA interstrand cross-links induced by psoralen are not repaired in mammalian mitochondria.

1998 • 42 citations

Methylation of rat liver mitochondrial deoxyribonucleic acid by chemical carcinogens and associated alterations in physical properties

1975 • 42 citations

Mutational spectra of a 100-base pair mitochondrial DNA target sequence in bronchial epithelial cells: a comparison of smoking and nonsmoking twins.

1998 • 40 citations

Smoking-associated mitochondrial DNA mutations in human hair follicles

1997 • 39 citations

Cell Cycle Regulation and Subcellular Localization of the Major Human Uracil-DNA Glycosylase

1995 • 39 citations

Resistance of HeLa cell mitochondrial DNA to mutagenesis by chemical carcinogens.

1988 • 38 citations

Purification and Characterization of a Mitochondrial Thymine Glycol Endonuclease from Rat Liver

1999 • 37 citations

Tumor-associated mutations of rat mitochondrial transfer RNA genes

1983 • 36 citations

Chemically induced mutations in mitochondrial DNA of human cells: mutational spectrum of N-methyl-N'-nitro-N-nitrosoguanidine.

1998 • 35 citations

Methyl methanesulfonate adduct formation and repair in the DHFR gene and in mitochondrial DNA in hamster cells

1993 • 34 citations

Evolutionary trail of the mitochondrial genome as based on human 16S rDNA pseudogenes

1994 • 33 citations

Characterization of homologous DNA recombination activity in normal and immortal mammalian cells

1996 • 33 citations

Independent occurrence of somatic mutations in mitochondrial DNA of human skin from subjects of various ages

1998 • 28 citations

Repair of DNA damage in a mitochondrial lysate of Xenopus laevis oocytes

1996 • 28 citations

Purification and Properties of the Major Apurinic/Apyrimidinic Endodeoxyribonuclease of Rat‐Liver Chromatin

1980 • 23 citations

Multi-copy nuclear pseudogenes of mitochondrial DNA reveal recent acute genetic changes in the human genome

1995 • 21 citations

Endonucleases in yeast mitochondria: apurinic and manganese-stimulated deoxyribonuclease activities in the inner mitochondrial membrane of Saccharomyces cerevisiae.

1982 • 21 citations

Levels of the Mitochondrial Endonuclease during Rat Cardiac Development Implicate a Role for the Enzyme in Repair of Oxidative Damage in Mitochondrial DNA

1994 • 20 citations

Endonucleases in Yeast Mitochondria

1982 • 19 citations

Efficiency of separation of DNA mutations by constant denaturant capillary electrophoresis is controlled by the kinetics of DNA melting equilibrium

1996 • 18 citations

Analysis of Chemically Induced Mutation in Single Cell Populations

1983 • 17 citations

MICROCARRIERS AND THE PROBLEM OF HIGH DENSITY CELL CULTURE

1982 • 16 citations

Elevated levels of homologous DNA recombination activity in the regenerating rat liver

1996 • 16 citations

Restriction enzyme analysis of human leukemic mitochondrial DNA

1980 • 16 citations

The Sequence Context‐Dependent Mispairing of 5‐Hydroxycytosine and 5‐Hydroxyuridine in Vitro

1994 • 16 citations

Construction of a shuttle vector containing a single O6-methylguanine: A probe for mutagenesis in mammalian cells

1989 • 10 citations

Evidence for the repair of the promutagenic lesion O6-methylguanine from mitochondrial DNA

1986 • 1 citations

Deleted Work

1955 • 0 citations