Nucleotide sequence variation is frequent in the mitochondrial DNA displacement loop region of individual human tumor cells

Molecular Cancer Research

Volumn 3, Issue 1, 2005, Pages 14-20

  Yoneyama, Haruko ^a,c   Hara, Toshiko ^a   Kato, Yo ^a   Yamori, Takao ^b   Matsuura, Etsuko T ^c   Koike, Katsuro ^a,d  

^a CANCER INSTITUTE   (Japan)

^b CANCER CHEMOTHERAPY CENTER   (Japan)

^c OCHANOMIZU UNIVERSITY   (Japan)

^d KITASATO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; BRAIN TUMOR; BREAST TUMOR; CARCINOGENESIS; COLON TUMOR; CONTROLLED STUDY; DNA SEQUENCE; GENETIC VARIABILITY; HOMOPLASY; HUMAN; HUMAN CELL; KIDNEY TUMOR; LIVER TUMOR; LUNG TUMOR; MELANOMA; MITOCHONDRION; MOLECULAR CLONING; OSTEOSARCOMA; OVARY TUMOR; PRIORITY JOURNAL; PROSTATE TUMOR; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; STOMACH TUMOR; TUMOR CELL; TUMOR GROWTH;

CELL LINE, TUMOR; CLONING, MOLECULAR; DNA, MITOCHONDRIAL; FEMALE; HUMANS; LIVER NEOPLASMS; MALE; MITOCHONDRIA; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, DNA; STOMACH NEOPLASMS; VARIATION (GENETICS);

EID: 13244255428     PISSN: 15417786     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290:457-65.
2. Walberg MW, Clayton DA. Sequence and properties of the human KB cell and mouse L cell D-loop regions of mitochondrial DNA. Nucleic Acids Res 1981;9:5411-21.
3. Chang DD, Clayton DA. Priming of human mitochondrial DNA replication occurs at the light-strand promoter. Proc Natl Acad Sci U S A 1985;82:351-5.
4. Chang DD, Clayton DA. Precise identification of individual promoters for transcription of each strand of human mitochondrial DNA. Cell 1984;36:635-43.
5. Bogenhagen D, Clayton DA. The number of mitochondrial deoxyribonucleic acid genomes in mouse L and human HeLa cells. J Biol Chem 1974;249:7991-5.
6. Wallace DC, Schoffner JM, Trounce I, et al. Mitochondrial DNA mutations in human degenerative diseases and aging. Biochim Biophys Acta 1995;1271:141-51.
7. Yakes FM, Van Houten B. Mitochondrial DNA damage is more extensive and persists longer than nuclear DNA damage in human cells following oxidative stress. Proc Natl Acad Sci U S A 1997;94:514-9.
8. Burgart LJ, Zheng J, Shu Q, Strickler JG, Shibata D. Somatic mitochondrial mutation in gastric tumor. Am J Pathol 1995;147:1105-11.
9. Bianchi MS, Bianchi NO, Bailliet G. Mitochondrial DNA mutations in normal and tumor tissues from breast tumor patients. Cytogenet Cell Genet 1995;71:99-103.
10. Polyak K, Li Y, Zhu H, et al. Somatic mutations of the mitochondrial genome in human colorectal tumors. Nat Genet 1998;20:291-3.
11. Fliss MS, Usadel H, Caballero OL, et al. Facile detection of mitochondrial DNA mutations in tumors and bodily fluids. Science 2000;287:2017-9.
12. Yeh JJ, Lunetta KL, van Orsouw NJ, et al. Somatic mitochondrial DNA (mtDNA) mutations in papillary thyroid carcinomas and differential mtDNA sequence variants in cases with thyroid tumors. Oncogene 2000;19:2060-6.
13. Greenberg BD, Newbold JE, Sugino A. Intraspecific nucleotide sequence variability surrounding the origin of replication in human mitochondrial DNA. Gene 1983;21:33-49.
14. Jazin EE, Cavelier L, Eriksson I, Oreland L, Gyllensten U. Human brain contains high levels of heteroplasmy in the noncoding regions of mitochondrial DNA. Proc Natl Acad Sci U S A 1996;93:12382-7.
15. Marchington DR, Hartshorne GM, Barlow D, Poulton J. Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: support for a genetic bottleneck. Am J Hum Genet 1997;60:408-16.
16. Kunkel TA. Frameshift mutagenesis by eucaryotic DNA polymerases in vitro. J Biol Chem 1986;261:13581-7.
17. Wakeley J. Substitution rate variation among sites in hypervariable region 1 of human mitochondrial DNA. J Mol Evol 1993;37:613-23.
18. Brown MD, Hosseini SH, Torroni A, et al. mtDNA haplogroup x: an ancient link between Europe/Western Asia and northern America? Am J Hum Genet 1998;63:1852-61.
19. Nekhaeva E, Bodyak ND, Kraytsberg Y, et al. Clonally expanded mtDNA point mutations are abundant in individual cells of human tissues. Proc Natl Acad Sci U S A 2002;99:5521-6.
20. Attardi G, Yoneda M, Chomyn A. Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems. Biochim Biophys Acta 1995;1271:241-8.
21. Moraes CT, Schon EA. Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single fiber PCR. Methods Enzymol 1996;264:522-40.