Preferential amplification and phenotypic selection in a population of deleted and wild-type mitochondrial DNA in cultured cells

Current Genetics

Volumn 32, Issue 2, 1997, Pages 115-124

  Spelbrink, Johannes N ^a   Zwart, Rob ^a   Van Galen, Mieke J M ^a   Van den Bogert, Coby ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Deletion; Human mtDNA; Phenotype selection; Segregation

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CELL CULTURE; DELETION MUTANT; GENE AMPLIFICATION; GENE SEGREGATION; HUMAN; HUMAN CELL; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SYNTHESIS; RESPIRATORY CHAIN; SOUTHERN BLOTTING;

ANTI-BACTERIAL AGENTS; CELL DIVISION; CELLS, CULTURED; CITRATE (SI)-SYNTHASE; DNA, MITOCHONDRIAL; DOXYCYCLINE; ELECTRON TRANSPORT COMPLEX IV; GENE AMPLIFICATION; HUMANS; LYMPHOCYTES; PANCREATIC DISEASES; PHENOTYPE; SELECTION (GENETICS); SEQUENCE DELETION; SYNDROME;

EID: 0030801819     PISSN: 01728083     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002940050255     Document Type: Article

References (44)

1. Andersen S, Bankier AT, De Bruijn MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young IG (1981) Sequence and organisation of the human mitochondrial genome. Nature 290:457-465
2. Attardi G, Yoneda M, Chomyn A (1995) Complementation and segregation behaviour of disease-causing mitochondrial DNA mutations in cellular model systems. Biochim Biophys Acta 1271:241-248
3. Bibb MJ, Van Etten RA, Wright CT, Walberg MW, Clay ton DA (1981) Sequence and gene organisation of mouse mitochondrial DNA. Cell 26:167-180
4. Bourgeron T, Chretien D, Rötig A, Munnich A, Rustin P (1993) Fate and expression of the del mtDNA differ between human heteroplasmic skin fibroblasts and Epstein-Barr virus-transformed lymphocyte cultures. J Biol Chem 268:19369-19376
5. Chen X, Prosser R, Simonetti S, Sadlock J, Jagiello G, Schon EA (1995) Rearranged mitochondrial genomes are present in human oocytes. Am J Hum Genet 57:239-247
6. Chomyn A, Meola G, Bresolin N, Lai ST, Scarlato G, Attardi G (1991) In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy patient mitochondria. Mol Cell Biol 11:2236-2244
7. Chrzanowska-Lightowlers ZMA, Preiss T, Lightowlers RN (1994) Inhibition of mitochondrial protein synthesis promotes increased stability of nuclear-encoded respiratory gene transcripts. J Biol Chem 269:27322-27328
8. Church GM, Gilbert W (1984) Genomic sequencing. Proc Natl Acad Sci USA 81:1991-1995
9. Clarke A (1990) Mitochondrial genome: defects, disease, and evolution. J Med Genet 27:451-456
10. Clayton DA (1982) Replication of animal mitochondrial DNA. Cell 28:693-705
11. Collombet J, Mandon G, Dumoulin R, Mousson B, Stepien G (1996) Accumulation of mitochondrial DNA deletions in myotubes cultured from muscles of patients with mitochondrial myopathies. Mol Gen Genet 253:182-188
12. De Vries DD, Buzing CJM, Ruitenbeek W, Van der Wouw MPME, Sped W, Sengers RCA, Trijbels JMF, Van Oost B A (1992) Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndrome. Neuromusc Disord 2:185-195
13. Desjardins P, Frost E, Morais R (1985) Ethidium bromide-induced loss of mitochondrial DNA from primary chicken embryo fibroblasts. Mol Cell Biol 5:1163-1169
14. Dunbar DR, Moonie PA, Jacobs HT, Holt IJ (1995) Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes. Proc Natl Acad Sci USA 92:6562-6566
15. Erickson CE, Castora FJ (1993) PCR amplification using a single cell allows the detection of the mtDNA lesion associated with Leber's hereditary optic neuropathy. Biochim Biophys Acta 1181:77-82
16. Feinberg AP, Vogelstein B (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132:6-13
17. leu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. Hum Mol Genet 5:1835-1840
18. Gonzalez IL, Schmickel RD (1986) The human 18S ribosomal RNA gene: evolution and stability. Am J Hum Genet 38:419-427
19. Hauswirth WW, Laipis PJ (1985) Transmission genetics of mammalian mitochondria: a molecular model and experimental evidence. In: Quagliariello E, Slater EC, Palmieri F, Saccone C, Kroon AM (eds) Achievements and perspectives of mitochondrial research. Volume II: Biogenesis. Elsevier, Amsterdam, pp 49-59
20. Hayashi J, Ohta S, Kikuchi A, Takemitsu M, Goto Y, Nonaka I (1991) Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci USA 88:10614-10618
21. Holt IJ, Harding AE. Morgan-Hughes JA (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331:717-719
22. King MP, Attardi G (1989) Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 246:500-503
23. King MP, Attardi G (1993) Post-transcriptional regulation of the steady state levels of mitochondrial tRNAs in HeLa cells. J Biol Chem 268:10228-10237
24. Larsson N, Holme E, Kristiansson B, Oldfors A, Tulinius MH (1990) Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatrie Res 28:131-136
25. Lécher P, Béziat F, Alziari S (1994) Tissular distribution of heteroplasmy and ultrastructural studies of mitochondria from a Drosophila subobscura mitochondrial deletion mutant. Biol Cell 80:25-33
26. Marchington DR, Poulton J, Sellar A, Holt IJ (1996) Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease? Hum Mol Genet 5:473-479
27. Matthews PM, Brown RM, Morten K, Marchington D, Poulton J, Brown G (1995) Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA. Hum Genet 96:261-268
28. Mita S, Schmidt B, Schon EA, DiMauro S, Bonilla E (1989) Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome. Proc Natl Acad Sci USA 86:9509-9513
29. Miyabayashi S, Hanamizu H, Nakamura R, Endo H, Tada K (1992) Defects of mitochondrial respiratory enzymes in cloned cells from MELAS fibroblasts. J Inner Metab Dis 15:797-802
30. Nelson BD (1987) Biogenesis of mammalian mitochondria. Curr Top Bioenerg 15:221-272
31. Rotig A, Colonna M, Bonnefont JP, Blanche S, Fischer A, Saudubray JM, Munnich A (1989) Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet i:902-903
32. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning; a laboratory manual, 2nd edn. Cold Spring Harbor Laboratory, Cold Spring Harbor, New York
33. Sancho S, Moraes CT, Tanji K, Miranda AF (1992) Structural and functional mitochondrial abnormalities associated with high levels of deleted mitochondrial DNAs in somatic cell hybrids. Somatic Cell Mol Genet 18:431-442
34. eu3243) in cybrid cells. Biochem Biophys Res Commun 213:189-195
35. Shoubridge EA, Karpati G, Hastings KEM (1990) Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease. Cell 62:43-49
36. Solignac M, Génermont J, Monnerot M, Mounolou J (1984) Genetics of mitochondria in Drosophila: mtDNA inheritance in heteroplasmic strains of D. mauritiana. Mol Gen Genet 197:183-188
37. Spelbrink JN, van Oost B, Van den Bogert C (1994) The relationship between mitochondrial genotype and mitochondrial phenotype in lymphoblasts with a heteroplasmic mtDNA deletion. Hum Mol Genet 3:1989-1997
38. Srere PA (1969) Citrate synthase. Methods Enzymol 13:3-26
39. Van den Bogert C, Muus P, Haanen C, Pennings A, Melis TE, Kroon AM (1988) Mitochondrial biogenesis and mitochondrial activity during the progression of the cell cycle of human leukemic cells. Exp Cell Res 178:143-153
40. Van den Bogert C, Spelbrink JN, Dekker HL (1992) Relationship between culture conditions and the dependency on mitochondrial function in mammalian cell proliferation. J Cell Physiol 152:632-636
41. Van Kuilenburg ABP, Dekker HL, Van den Bogert C, Nieboer P, Van Gelder BF, Muijsers AO (1993)Isoforms of human cytochrome c oxidase. Subunit composition and steady state kinetic properties. Eur J Biochem 199:615-622
42. Wallace DC (1989) Mitochondrial DNA mutations and neuromuscular disease. Trends Genet 5:9-13
43. Wallace DC (1992) Diseases of the mitochondrial DNA. Annu Rev Biochem 61:1175-1212
44. Yoneda M, Chomyn A, Martinuzzi A, Hurko O, Attardi G (1992) Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. Proc Natl Acad Sci USA 89:11164-11168