The DOI matches its Crossref record; 36 of the 36 references it cites were found in a registry or an index.
Universal heteroplasmy of human mitochondrial DNA
Open accessAbstract
Mammalian cells contain thousands of copies of mitochondrial DNA (mtDNA). At birth, these are thought to be identical in most humans. Here, we use long read length ultra-deep resequencing-by-synthesis to interrogate regions of the mtDNA genome from related and unrelated individuals at unprecedented resolution. We show that very low-level heteroplasmic variance is present in all tested healthy individuals, and is likely to be due to both inherited and somatic single base substitutions. Using this approach, we demonstrate an increase in mtDNA mutations in the skeletal muscle of patients with a proofreading-deficient mtDNA polymerase γ due to POLG mutations. In contrast, we show that OPA1 mutations, which indirectly affect mtDNA maintenance, do not increase point mutation load. The demonstration of universal mtDNA heteroplasmy has fundamental implications for our understanding of mtDNA inheritance and evolution. Ostensibly de novo somatic mtDNA mutations, seen in mtDNA maintenance disorders and neurodegenerative disease and aging, will partly be due to the clonal expansion of low-level inherited variants.
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Cites
Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction
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Premature ageing in mice expressing defective mitochondrial DNA polymerase
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Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging
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Mitochondrial DNA mutations in human disease
Taylor, R. W., & Turnbull, D. M. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1606 · Cited by 1,852
Self-citationAlexander, C., Votruba, M., Pesch, U. E. A., Thiselton, D. L., Mayer, S., Moore, A., Rodriguez, M., Kellner, U., Leo-Kottler, B., Auburger, G., et al. (2000) · Nature Genetics · doi:10.1038/79944 · Cited by 1,330
Accurate determination of microbial diversity from 454 pyrosequencing data
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Pathogenic Mitochondrial DNA Mutations Are Common in the General Population
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Self-citationMitochondrial DNA mutations in disease and aging
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The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs
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Cited by
Mitochondrial 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
Mammalian Mitochondria and Aging: An Update
Kauppila, T. E. S., Kauppila, J. H. K., & Larsson, N.-G. (2017) · Cell Metabolism · doi:10.1016/j.cmet.2016.09.017 · Cited by 578
UPRmt regulation and output: a stress response mediated by mitochondrial-nuclear communication
Melber, A., & Haynes, C. M. (2018) · Cell Research · doi:10.1038/cr.2018.16 · Cited by 502
Mitochondria Know No Boundaries: Mechanisms and Functions of Intercellular Mitochondrial Transfer
Torralba, D., Baixauli, F., & Sánchez-Madrid, F. (2016) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2016.00107 · Cited by 440
Chinnery, P. F., & Hudson, G. (2013) · British Medical Bulletin · doi:10.1093/bmb/ldt017 · Cited by 395
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Metadata
- Authors
- Payne, B. A. I., Wilson, I. J., Yu-Wai-Man, P., Coxhead, J., Deehan, D., Horvath, R., Taylor, R. W., Samuels, D. C., Santibanez-Koref, M., & Chinnery, P. F.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2012-10-16
- Volume
- 22
- Issue
- 2
- Pages
- 384-390
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2111976489
- Cited by
- 395
- References
- 36
- FWCI
- 11.04
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Payne, B. A. I., Wilson, I. J., Yu-Wai-Man, P., Coxhead, J., Deehan, D., Horvath, R., Taylor, R. W., Samuels, D. C., Santibanez-Koref, M., & Chinnery, P. F. (2013). Universal heteroplasmy of human mitochondrial DNA. Human Molecular Genetics. https://doi.org/10.1093/hmg/dds435
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