The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Effects of Purifying and Adaptive Selection on Regional Variation in Human mtDNA
Abstract
A phylogenetic analysis of 1125 global human mitochondrial DNA (mtDNA) sequences permitted positioning of all nucleotide substitutions according to their order of occurrence. The relative frequency and amino acid conservation of internal branch replacement mutations was found to increase from tropical Africa to temperate Europe and arctic northeastern Siberia. Particularly highly conserved amino acid substitutions were found at the roots of multiple mtDNA lineages from higher latitudes. These same lineages correlate with increased propensity for energy deficiency diseases as well as longevity. Thus, specific mtDNA replacement mutations permitted our ancestors to adapt to more northern climates, and these same variants are influencing our health today.
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Citations
Cites
Uncoupling to survive? The role of mitochondrial inefficiency in ageing
Brand, M. D. (2000) · Experimental Gerontology · doi:10.1016/s0531-5565(00)00135-2 · Cited by 789
Cited by
Wallace, D. C. (2005) · Annual Review of Genetics · doi:10.1146/annurev.genet.39.110304.095751 · Cited by 3,185
Self-citationFranceschi, C., Capri, M., Monti, D., Giunta, S., Olivieri, F., Sevini, F., Panourgia, M. P., Invidia, L., Celani, L., Scurti, M., et al. (2007) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2006.11.016 · Cited by 2,087
Mitochondria take center stage in aging and neurodegeneration
Beal, M. F. (2005) · Annals of Neurology · doi:10.1002/ana.20624 · Cited by 957
mtDNA mutations increase tumorigenicity in prostate cancer
Petros, J. A., Baumann, A. K., Ruiz-Pesini, E., Amin, M. B., Sun, C. Q., Hall, J., Lim, S., Issa, M. M., Flanders, W. D., Hosseini, S. H., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0408894102 · Cited by 836
Self-citationHuman mitochondrial DNA: roles of inherited and somatic mutations
Schon, E. A., DiMauro, S., & Hirano, M. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3275 · Cited by 757
Metadata
- Authors
- Ruiz-Pesini, E., Mishmar, D., Brandon, M., Procaccio, V., & Wallace, D. C.
- Venue
- Science
- Published
- 2004-01-09
- Volume
- 303
- Issue
- 5655
- Pages
- 223-226
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2129666171
- Cited by
- 806
- References
- 1
- FWCI
- 28.29
- Type
- journal article
- Language
- en
- Open access
- closed
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- Ruiz-Pesini, E., Mishmar, D., Brandon, M., Procaccio, V., & Wallace, D. C. (2004). Effects of Purifying and Adaptive Selection on Regional Variation in Human mtDNA. Science. https://doi.org/10.1126/science.1088434
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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