Genotypic stability, segregation and selection in heteroplasmic human cell lines containing np 3243 mutant mtDNA

Genetics

Volumn 154, Issue 1, 2000, Pages 363-380

  Lehtinen, Sanna K ^a   Hance, Nicole ^b   El Meziane, Abdellatif ^a,c   Juhola, M Katariina ^a   Juhola, K Martti I ^d   Karhu, Ritva ^a   Spelbrink, Johannes N ^a   Holt, Ian J ^b   Jacobs, Howard T ^a,e,f  

^a TAMPERE UNIVERSITY HOSPITAL   (Finland)

^b UNIVERSITY OF DUNDEE   (United Kingdom)

^c FACULTÉ DES SCIENCES ET TECHNIQUES GUÉLIZ   (Morocco)

^d TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^e UNIVERSITY OF GLASGOW   (United Kingdom)

^f UNIVERSITY OF TAMPERE   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CELL CULTURE; CELL LINE; GENE CONTROL; GENE MUTATION; GENE SEGREGATION; GENETIC STABILITY; GENOTYPE; HUMAN; HUMAN CELL; PHENOTYPE; PRIORITY JOURNAL;

MAMMALIA;

EID: 0033983248     PISSN: 00166731     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (48)

1. BACKERT, S., P. DORFEL, R. LURZ and T. BORNER, 1996 Rolling-circle replication of mitochondrial DNA in the higher plant Chenopodium album (L). Mol. Cell. Biol. 16: 6285-6294.
2. BENTLAGE, H. A. C. M., and G. ATTARDI, 1996 Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number. Hum. Mol. Genet. 5: 197-205.
3. BERGER, K. H., and M. P. YAFFE, 1996 Mitochondrial distribution and inheritance. Experientia 52; 1111-1116.
4. BIRKY, C. W., 1983 The partitioning of cytoplasmic organelles at cell-division. Int. Rev. Cytol. S15: 49-89.
5. CHOMYN, A., A. MARTINUZZI, M. YONEDA, A. DAGA, O. HURKO et al., 1992 MELAS mutation in mtDNA binding-site for transcription termination factor causes defects in protein-synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. Proc. Natl. Acad. Sci. USA 89: 4221-4225.
6. CHURCH, G. M., and W. GILBERT, 1984 Genomic sequencing. Proc. Natl. Acad. Sci. USA 81: 1991-1995.
7. CLAYTON, D. A., 1982 Replication of animal mitochondrial DNA. Cell 28: 693-705.
8. DUNBAR, D. R., P. A. MOONIE, H. YOUNG, H. T. JACOBS and I. J. HOLT, 1995 Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes. Proc. Natl. Acad. Sci. USA 92: 6562-6566.
9. DUNBAR, D. R., P. A. MOONIE, M. ZEVIANI and I. J. HOLT, 1996 Complex I deficiency is associated with 3243G:C mitochiondrial DNA in osteosarcoma cell cybrids. Hum. Mol. Genet. 5: 123-129.
10. EL MEZIANE, A., S. K. LEHTINEN, N. HANCE, L. G. J. NIJTMANS, D. DUNBAR et al., 1998a A tRNA suppressor mutation in human mitochondria. Nat. Genet. 18: 350-353.
11. EL MEZIANE, A., S. K. LEHTINEN, I. J. HOLT and H. T. JACOBS, 1998b Mitochondrial tRNA-leu isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation. Hum. Mol. Genet. 7: 2141-2147.
12. GLASER, P., M. E. SHARPE, B. RAETHER, M. PEREGO, K. OHLSEN et al., 1997 Dynamic, mitotic-like behavior of a bacterial protein required for accurate chromosome partitioning. Genes Dev. 11: 1160-1168.
13. GOTO, Y., I. NONAKA and S. HORAI, 1990 A mutation in the tRNALeu-(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348: 651-653.
14. HAYASHI, J. I., M. TAKEMITSU, Y. GOTO and I. NONAKA, 1994 Human mitochondria and mitochondrial genome function as a single dynamic cellular-unit. J. Cell Biol. 125: 43-50.
15. HOPPENSTEADT, F. G., and C. S. PESKIN, 1991 Mathematics in Medicine and Life Sciences, pp. 50-52. Springer-Verlag, New York.
16. JEAN-FRANCOIS, M. J. B., P. LERTRIT, S. F. BERKOVIC, D. CRIMMINS, J. MORRIS et al., 1994 Heterogeneity in the phenotypic-expression of the mutation in the mitochondrial tRNA(leu(UUR)) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies. Aust. N.Z. J. Med. 24: 188-193.
17. JENUTH, J. P., A. C. PETERSON, K. FU and E. A. SHOUBRIDGE, 1996 Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nat. Genet. 14: 146-151.
18. JENUTH, J. P., A. C. PETERSON and E. A. SHOUBRIDGE, 1997 Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nat. Genet. 16: 93-95.
19. KALLIONIEMI, O.-P., A. KALLIONIEMI, J. PIPER, J. ISOLA, F. M. WALDMAN et al., 1994 Opitimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumours. Genes Chromosomes Cancer 10: 231-243.
20. KARHU, R., M. KÄHKÖNEN, T. KUUKASJÄRVI, S. PENNANEN, M. TIRKKONEN et al., 1997 Quality control of CGH: impact of metaphase chromosomes and the dynamic range of hybridization. Cytometry 28: 198-205.
21. KING, M. P., and G. ATTARDI, 1989 Human-cells lacking mtDNA-repopulation with exogenous mitochondria by complementation. Science 246: 500-503.
22. KING, M. P., Y. KOGA, M. DAVIDSON and E. A. SCHON, 1992 Defects in mitochondrial protein-synthesis and respiratory-chain activity segregate with the transfer RNA(leu) (UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic-acidosis, and stroke-like episodes. Mol. Cell. Biol. 12: 480-490.
23. Leu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem. Biophys. Res. Commun. 173: 816-822.
24. KUROIWA, T., T. OHTA, H. KUROIWA and K. SHIGEYUKI, 1994 Molecular and cellular mechanisms of mitochondrial nuclear division and mitochondriokinesis. Microsc. Res. Tech. 27: 220-232.
25. KUROIWA, T., H. KUROIWA, A. SAKAI, H. TAKAHASHI, K. TODA et al., 1998 The division apparatus of plastids and mitochondria. Int. Rev. Cytol. 181: 1-41.
26. LEWIS, P. J., and J. ERRINGTON, 1997 Direct evidence for active segregation of oriC regions of the Bacillus subtilis chromosome and co-localization with the SpoOJ partitioning protein. Mol. Microbiol. 25: 945-954.
27. MALEKSZKA, R., P. J. SKELLY and G. D. CLARK-WALKER, 1991 Rolling circle replication of DNA in yeast mitochondria. EMBO J. 10: 3923-3929.
28. MARCHINGTON, D. R., G. M. HARTSHORNE, D. BARLOW and J. POULTON, 1997 Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: support for a genetic bottleneck. Am. J. Hum. Genet. 60: 408-416.
29. MARIOTTI, C., N. SAVARESE, A. SUOMALAINEN, M. RIMOLDI, G. COMI et al., 1995 Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. J. Neurol. 242: 304-312.
30. MATTHEWS, P. M., R. M. BROWN, K. MORTEN, D. MARCHINGTON, J. POULTON et al., 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.
31. MIQUEL, J., 1992 An update on the mitochondrial DNA mutation hypothesis of cell aging. Mutat. Res. 275: 209-216.
32. MIYAKAWA, I., S. FUMOTO, T. KUROIWA and N. SANDO, 1995 Characterization of DNA-binding proteins involved in the assembly of mitochondrial nucleoids in the yeast Saccharomyces cerevisiae. Plant Cell Physiol. 36: 1179-1188.
33. NEWMAN, S. M., O. ZELENAYA-TROTTSKAYA, P. S. PERLMAN and R. A. BUTOW, 1996 Analysis of mitochondrial DNA nucleoids in wild-type and a mutant strain of Saccharomyces cerevisiae that lacks the mitochondrial HMG box protein Abf2p. Nucleic Acids Res. 24: 386-393.
34. NISHIDA, E., K. IIDA, N. YONEZAWA, S. KOYASU, I. YAHARA et al., 1987 Cofilin is a component of intranuclear and cytoplasmic actin rods induced in cultured cells. Proc. Natl. Acid. Sci. USA 84: 5262-5266.
35. NUNNARI, J., W. F. MARSHALL, A. STRAIGHT, A. MURRAY, J. W. SEDAT et al., 1997 Mitochondrial transmission during mating in Saccharomyces cerevisiae is determined by mitochondrial fusion and fission and the intra-mitochondrial segregation of mitochondrial DNA. Mol. Biol. Cell 8: 1233-1242.
36. OLDENBURG, D. J., and A. J. BENDICH, 1998 Fluorescence microscopy of DNA-protein structures from osmotically lysed mitochondria of yeast and tobacco. Protoplasma 201: 53-63.
37. REID, F. M., G. VERNHAM and H. T. JACOBS, 1994 A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum. Mutat. 3: 243-247.
38. REID, F. M., A. ROVIO, I. J. HOLT and H. T. JACOBS, 1997 Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation. Hum. Mol. Genet. 6: 443-449.
39. SASAKI, N., A. SAKAI, S. KAWANO, H. KUROIWA and T. KUROIWA, 1998 DNA synthesis in isolated mitochondrial nucleoids from plasmodia of Physarum polycephalum. Protoplasma 203: 221-231.
40. SHOUBRIDGE, E. A., 1995 Segregation of mitochondrial DNAs carrying a pathogenic point mutation (tRNA (leu3243)) in cybrid cells. Biochem. Biophys. Res. Commun. 213: 189-195.
41. SPELBRINK, J. N., R. ZWART, M. J. M. VAN GALEN and C. VAN DEN BOGERT, 1997 Preferential amplification and phenotypic selection in a population of deleted and wild-type mitochondrial DNA in cultured cells. Curr. Genet. 32: 115-124.
42. TAKAI, D., K. INOUE, Y. GOTO, I. NONAKA and J. I. HAYASHI, 1997 The interorganellar interaction between distinct human mitochondria with deletion mutant mtDNA from a patient with mitochondrial disease and with HeLa mtDNA. J. Biol. Chem. 272: 6028-6033.
43. TREAT, I., G., and C. W. BIRKY, 1980 Early vegetative segregation of mitochondrial genes in Saccharomyces cerevisiae. Plasmid 4: 261-275.
44. VAN DEN OUWELAND, J. M. W., H. H. P. J. LEMKES, W. RUTTENBEEK, L. A. SANDKUIJL, M. F. DEVIJLDER et al., 1992 Mutation in mitochondrial transfer RNA (leu(UUR)) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat. Genet. 1: 368-371.
45. WHEELER, R. T., and I., SHAPIRO, 1997 Bacterial chromosome segregation: is there a mitotic apparatus? Cell 88: 577-579.
46. WHITFIELD, C. D., R. BOSTEDOR, D. GOODRUM, M. HAAK and E. H. Y. CHU, 1981 Hamster cell mutants unable to grow on galactose and exhibiting an overlapping complementation pattern are defective in the electron-transport chain. J. Biol. Chem. 256: 6651-6656.
47. YONEDA, M., A. CHOMYN, A. MARTINUZZI, O. HURKO and G. ATTARDI, 1992 Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. Proc. Natl. Acad. Sci. USA 89: 11164-11168.
48. YONEDA, M., T. MIYATAKE and G. ATTARDI, 1994 Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles. Mol. Cell. Biol. 14: 2699-2712.