The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Strong Purifying Selection in Transmission of Mammalian Mitochondrial DNA
Open accessAbstract
There is an intense debate concerning whether selection or demographics has been most important in shaping the sequence variation observed in modern human mitochondrial DNA (mtDNA). Purifying selection is thought to be important in shaping mtDNA sequence evolution, but the strength of this selection has been debated, mainly due to the threshold effect of pathogenic mtDNA mutations and an observed excess of new mtDNA mutations in human population data. We experimentally addressed this issue by studying the maternal transmission of random mtDNA mutations in mtDNA mutator mice expressing a proofreading-deficient mitochondrial DNA polymerase. We report a rapid and strong elimination of nonsynonymous changes in protein-coding genes; the hallmark of purifying selection. There are striking similarities between the mutational patterns in our experimental mouse system and human mtDNA polymorphisms. These data show strong purifying selection against mutations within mtDNA protein-coding genes. To our knowledge, our study presents the first direct experimental observations of the fate of random mtDNA mutations in the mammalian germ line and demonstrates the importance of purifying selection in shaping mitochondrial sequence diversity.
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Citations
Cites
Premature ageing in mice expressing defective mitochondrial DNA polymerase
Trifunovic, A., Wredenberg, A., Falkenberg, M., Spelbrink, J. N., Rovio, A. T., Bruder, C. E., Bohlooly-Y, M., Gidlöf, S., Oldfors, A., Wibom, R., et al. (2004) · Nature · doi:10.1038/nature02517 · Cited by 2,734
Self-citationTissue-specific selection for different mtDNA genotypes in heteroplasmic mice
Jenuth, J. P., Peterson, A. C., & Shoubridge, E. A. (1997) · Nature Genetics · doi:10.1038/ng0597-93 · Cited by 415
Random genetic drift determines the level of mutant mtDNA in human primary oocytes
Brown, D. T., Samuels, D. C., Michael, E. M., Turnbull, D. M., & Chinnery, P. F. (2001) · The American Journal of Human Genetics · doi:10.1086/318190 · Cited by 196
Cited by
Mitochondrial Fission, Fusion, and Stress
Youle, R. J., & van der Bliek, A. M. (2012) · Science · doi:10.1126/science.1219855 · Cited by 3,674
Mitochondria: In Sickness and in Health
Nunnari, J., & Suomalainen, A. (2012) · Cell · doi:10.1016/j.cell.2012.02.035 · Cited by 3,479
Kenyon, C. J. (2010) · Nature · doi:10.1038/nature08980 · Cited by 2,739
The role of mitochondria in aging
Bratic, A., & Larsson, N.-G. (2013) · Journal of Clinical Investigation · doi:10.1172/jci64125 · Cited by 1,087
Self-citationMitochondrial dynamics and inheritance during cell division, development and disease
Mishra, P., & Chan, D. C. (2014) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3877 · Cited by 1,043
Metadata
- Authors
- Stewart, J. B., Freyer, C., Elson, J. L., Wredenberg, A., Cansu, Z., Trifunovic, A., & Larsson, N.-G.
- Venue
- PLoS Biology
- Publisher
- Public Library of Science (PLoS)
- Published
- 2008-01-29
- Volume
- 6
- Issue
- 1
- Pages
- e10
- ISSN
- 1544-9173 (ISSN-L)
- 1545-7885
- OpenAlex
- W2094832206
- Cited by
- 524
- References
- 3
- FWCI
- 20.57
- Type
- journal article
- Language
- en
- Open access
- gold
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- Stewart, J. B., Freyer, C., Elson, J. L., Wredenberg, A., Cansu, Z., Trifunovic, A., & Larsson, N.-G. (2008). Strong Purifying Selection in Transmission of Mammalian Mitochondrial DNA. PLoS Biology. https://doi.org/10.1371/journal.pbio.0060010
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