Nuclear genetic control of mitochondrial DNA segregation

Nature Genetics

Volumn 33, Issue 2, 2003, Pages 183-186

  Battersby, Brendan J ^a   Loredo Osti, J C ^a   Shoubridge, Eric A ^a  

^a MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ANIMAL EXPERIMENT; ARTICLE; CELL TYPE; CHROMOSOME 2; CHROMOSOME 5; CHROMOSOME 6; CONTROLLED STUDY; CORRELATION ANALYSIS; FEMALE; GENE CONTROL; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; MALE; MOUSE STRAIN; NONHUMAN; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; QUANTITATIVE TRAIT; SEGREGATION ANALYSIS;

ANIMALS; CELL NUCLEUS; CHROMOSOME SEGREGATION; CROSSES, GENETIC; DNA, MITOCHONDRIAL; FEMALE; FOUNDER EFFECT; GENOTYPE; KIDNEY; LINKAGE (GENETICS); LIVER; MALE; MICE; MICE, INBRED C57BL; MICE, INBRED NZB; MICE, TRANSGENIC; MODELS, GENETIC; MUSCLE, SKELETAL; ORGAN SPECIFICITY; OXIDATIVE PHOSPHORYLATION; QUANTITATIVE TRAIT LOCI; SELECTION (GENETICS); SPLEEN; STEM CELLS; VARIATION (GENETICS);

ANIMALIA; MAMMALIA;

EID: 0037313092     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1073     Document Type: Article

References (30)

1. DiMauro, S. & Schon, E.A. Mitochondrial DNA mutations in human disease. Am. J. Med. Genet. 106, 18-26 (2001).
2. Larsson, N.G., Holme, E., Kristiansson, B., Oldfors, A. & Tulinius, M. Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatr. Res. 28, 131-136 (1990).
3. Boulet, L., Karpati, G. & Shoubridge, E.A. Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Am. J. Hum. Genet. 51, 1187-1200 (1992).
4. 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. USA 89, 11164-11168 (1992).
5. Kawakami, Y. et al. Mitochondrial myopathy with progressive decrease in mitochondrial tRNA(Leu)(UUR) mutant genomes. Ann. Neurol. 35, 370-373 (1994).
6. 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. USA 92, 6562-6566 (1995).
7. Fu, K. et al. A novel heteroplasmic tRNAleu(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 (1996).
8. Weber, K. et al. A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle. Am. J. Hum. Genet. 60, 373-380 (1997).
9. Dubeau, F., De Stefano, N., Zifkin, B.G., Arnold, D.L. & Shoubridge, E.A. Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree. Ann. Neurol. 47, 179-185 (2000).
10. Tang, Y., Manfredi, G., Hirano, M. & Schon, E.A. Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines. Mol. Biol. Cell 11, 2349-2358 (2000).
11. Rahman, S., Poulton, J., Marchington, D. & Suomalainen, A. Decrease of 3243 A to G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. Am. J. Hum. Genet. 68, 238-240 (2001).
12. Jenuth, J.P., Peterson, A.C., Fu, K. & Shoubridge, E.A. Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nat. Genet. 14, 146-151 (1996).
13. Jenuth, J.P., Peterson, A.C. & Shoubridge, E.A. Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nat. Genet. 16, 93-95 (1997).
14. Clayton, D.A. Replication of animal mitochondrial DNA. Cell 28, 693-705 (1982).
15. Birky, C.W. Jr. The inheritance of genes in mitochondria and chloroplasts: laws, mechanisms, and models. Annu. Rev. Genet. 35, 125-148 (2001).
16. Chinnery, P.F. et al. Nonrandom tissue distribution of mutant mtDNA. Am. J. Med. Genet. 85, 498-501 (1999).
17. van den Ouweland, J.M. et al. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat. Genet. 1, 368-371 (1992).
18. Petruzzella, V. et al. Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243. Hum. Mol. Genet. 3, 449-454 (1994).
19. de Stordeur, E., Solignac, M., Monnerot, M. & Mounolou, J.C. The generation of transplasmic Drosophila simulans by cytoplasmic injection: effects of segregation and selection on the perpetuation of mitochondrial DNA heteroplasmy. Mol. Gen. Genet. 220, 127-132 (1989).
20. Flint, J. & Mott, R. Finding the molecular basis of quantitative traits: successes and pitfalls. Nat. Rev. Genet. 2, 437-445 (2001).
21. Battersby, B.J. & Shoubridge, E.A. Selection of a mtDNA sequence variant in hepatocytes of heteroplasmic mice is not due to differences in respiratory chain function or efficiency of replication. Hum. Mol. Genet. 10, 2469-2479 (2001).
22. Meeusen, S. et al. Mgm101p is a novel component of the mitochondrial nucleoid that binds DNA and is required for the repair of oxidatively damaged mitochondrial DNA. J. Cell Biol. 145, 291-304 (1999).
23. Kaufman, B.A. et al. In organello formaldehyde crosslinking of proteins to mtDNA: identification of bifunctional proteins. Proc. Natl. Acad. Sci. USA 97, 7772-7777 (2000).
24. Gross, N.J., Getz, G.S. & Rabinowitz, M. Apparent turnover of mitochondrial deoxyribonucleic acid and mitochondrial phospholipids in the tissues of the rat. J. Biol. Chem. 244, 1552-1562 (1969).
25. Rolink, A.G., Andersson, J. & Melchers, F. Characterization of immature B cells by a novel monoclonal antibody, by turnover and by mitogen reactivity. Eur. J. Immunol. 28, 3738-3748 (1998).
26. Manly, K.F. & Olson, J.M. Overview of QTL mapping software and introduction to map manager QT. Mamm. Genome. 10, 327-334 (1999).
27. Basten, C., Weir, B.S. & Zeng, Z.-B. QTL Cartographer: A Reference Manual and Tutorial for QTL Mapping. (Department of Statistics, North Carolina State University, Raleigh, North Carolina, 1997).
28. Churchill, G.A. & Doerge, R.W. Empirical threshold values for quantitative trait mapping. Genetics. 138, 963-971 (1994).
29. North, B.V., Curtis, D. & Sham, P.C. A note on the calculation of empirical P values from Monte Carlo procedures. Am. J. Hum. Genet. 71, 439-441 (2002).
30. Lander, E. & Kruglyak, L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat. Genet. 11, 241-247 (1995).