High frequency of homoplasmic mitochondrial DNA mutations in human tumors can be explained without selection (original) (raw)
References
Fliss, M.S. et al. Facile detection of mitochondrial DNA mutations in tumors and bodily fluids. Science287, 2017–2019 (2000). ArticleCAS Google Scholar
Polyak, K. et al. Somatic mutations of the mitochondrial genome in human colorectal tumours. Nature Genet.20, 291–293 (1998). ArticleCAS Google Scholar
Alonso, A. et al. Detection of somatic mutations in the mitochondrial DNA control region of colorectal and gastric tumors by heteroduplex and single-strand conformation analysis. Electrophoresis18, 682–685 (1997). ArticleCAS Google Scholar
Richard, S.M. et al. Nuclear and mitochondrial genome instability in human breast cancer. Cancer Res.60, 4231–4237 (2000). CASPubMed Google Scholar
Habano, W., Nakamura, S. & Sugai, T. Microsatellite instability in the mitochondrial DNA of colorectal carcinomas: Evidence for mismatch repair systems in mitochondrial genome. Oncogene17, 1931–1937 (1998). ArticleCAS Google Scholar
Habano, W. et al. Microsatellite instability and mutation of mitochondrial and nuclear DNA in gastric carcinoma. Gastroenterology118, 835–841 (2000). ArticleCAS Google Scholar
Shay, J.W. & Werbin, H. Are mitochondrial DNA mutations involved in the carcinogenic process? Mutat. Res.186, 149–160 (1987). ArticleCAS Google Scholar
Avise, J.C. et al. Intraspecific phylogeography: The mitochondrial DNA bridge between population genetics and systematics. Annu. Rev. Ecol. Syst . 18, 489–522 (1987). Article Google Scholar
Monnat, R.J. Jr. & Loeb, L.A. Nucleotide sequence preservation of human mitochondrial DNA. Proc. Natl. Acad. Sci. USA82, 2895–2899 (1985). ArticleCAS Google Scholar
Bodenteich, A., Mitchell, L.G. & Merril, C.R. A lifetime of retinal light exposure does not appear to increase mitochondrial mutations. Gene108, 305–309 (1991). ArticleCAS Google Scholar
Coller, H.A. et al. Mutational spectra of a 100-base pair mitochondrial DNA target sequence in bronchial epithelial cells: a comparison of smoking and nonsmoking twins. Cancer Res.58, 1268–1277 (1998). CASPubMed Google Scholar
Pallotti, F., Chen, X., Bonilla, E. & Schon, E.A. Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging. Am. J. Hum. Genet.59, 591–602 (1996). CASPubMedPubMed Central Google Scholar
Michikawa, Y., Mazzucchelli, F., Bresolin, N., Scarlato, G. & Attardi, G. Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication. Science286, 774–779 (1999). ArticleCAS Google Scholar
Heerdt, B.G., Chen, J., Stewart, L.R. & Augenlicht, L.H. Polymorphisms, but lack of mutations or instability, in the promotor region of the mitochondrial genome in human colonic tumors. Cancer Res . 54, 3912–3915 (1994). CAS Google Scholar
Shay, J.W. & Ishii, S. Unexpected nonrandom mitochondrial DNA segregation in human cell hybrids. Anticancer Res.10, 279–284 (1990). CASPubMed Google Scholar
Yoneda, M., Chomyn, A., Martinuzzi, A., Hurko, O. & Attardi, G. Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. Proc. Natl Acad. Sci. USA89, 11164–11168 (1992). ArticleCAS Google Scholar
Dunbar, D.R., Moonie, P.A., Jacobs, H.T. & Holt, I.J. Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes. Proc. Natl Acad. Sci. USA92, 6562–6566 (1995). ArticleCAS Google Scholar
Herrero-Jimenez, P. et al. Mutation, cell kinetics, and subpopulations at risk for colon cancer in the United States. Mutat. Res.400, 553–578 (1998). ArticleCAS Google Scholar
Herrero-Jimenez, P., Tomita-Mitchell, A., Furth, E.E., Morgenthaler, S. & Thilly, W.G. Population risk and physiological rate parameters for colon cancer. The union of an explicit model for carcinogenesis with the public health records of the United States. Mutat. Res.447, 73–116 (2000). ArticleCAS Google Scholar
Cook, P.J., Doll, R. & Fillingham, S.A. A mathematical model for the age distribution of cancer in man. Int. J. Cancer4, 93–112 (1969). ArticleCAS Google Scholar
Shibata, D., Navidi, W., Salovaara, R., Li, Z.-H. & Aaltonen, L.A. Somatic microsatellite mutations as molecular tumor clocks. Nature Med . 2, 676–681 (1996). ArticleCAS Google Scholar
Cavelier, L., Johannisson, A. & Gyllensten, U. Analysis of mtDNA copy number and composition of single mitochondrial particles using flow cytometry and PCR. Exp. Cell Res.259, 79–85 (2000). ArticleCAS Google Scholar
Bodyak, N.D., Nekhaeva, E., Wei, J.Y. & Khrapko, K. Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues. Hum. Mol. Genet.10, 17–24 (2001). ArticleCAS Google Scholar
Attardi, G., Yoneda, M. & Chomyn, A. Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems. Biochim. Biophys. Acta1271, 241–248 (1995). Article Google Scholar