ArticleNucleic acids research2007
Mitochondrial diversity within modern human populations.
Article in Nucleic acids research, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- A hierarchical Bayesian framework for inferring mitochondrial clonal selection from single-cell data.Research square · 2026Article
- Ethical challenges in extending mitochondrial replacement therapy (MRT) for overcoming poor egg quality in older women without mitochondrial diseases.Journal of assisted reproduction and genetics · 2025Article
- Molecular consequences of mitochondrial replacement may be masked from organismal traits in Tigriopus californicus.PloS one · 2025Article
- Ancient DNA and paleogenetics: risks and potentiality.Pathologica · 2021Article
- Differential responses of myoblasts and myotubes to photobiomodulation are associated with mitochondrial number.Journal of biophotonics · 2019Article
- Significant loss of mitochondrial diversity within the last century due to extinction of peripheral populations in eastern gorillas.Scientific reports · 2018Article
- Denisovans, Melanesians, Europeans, and Neandertals: The Confusion of DNA Assumptions and the Biological Species Concept.Journal of molecular evolution · 2016Article
- Acceptance of domestic cat mitochondrial DNA in a criminal proceeding.Forensic science international. Genetics · 2014Article
- The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies.Journal of human genetics · 2014Review
- Poor Man's 1000 Genome Project: Recent Human Population Expansion Confounds the Detection of Disease Alleles in 7,098 Complete Mitochondrial Genomes.Frontiers in genetics · 2013Article
- A new look at an old virus: patterns of mutation accumulation in the human H1N1 influenza virus since 1918.Theoretical biology & medical modelling · 2012Article
- Mitochondrial genetic background plays a role in increasing risk to asthma.Molecular biology reports · 2012Article
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
With the recent increase in the available number of high-quality, full-length mitochondrial sequences, it is now possible to construct and analyze a comprehensive human mitochondrial consensus sequence. Using a data set of 827 carefully selected sequences, it is shown that modern humans contain extremely low levels of divergence from the mitochondrial consensus sequence, differing by a mere 21.6 nt sites on average. Fully 84.1% of the mitochondrial genome was found to be invariant and 'private' mutations accounted for 43.8% of the variable sites. Ninety eight percent of the variant sites had a primary nucleotide with an allele frequency of 0.90 or greater. Interestingly, the few truly ambiguous nucleotide sites could all be reliably assigned to either a purine or pyrimidine ancestral state. A comparison of this consensus sequence to several ancestral sequences derived from phylogenetic studies reveals a great deal of similarity, where, as expected, the most phylogenetically informative nucleotides in the ancestral studies tended to be the most variable nucleotides in the consensus. Allowing for this fact, the consensus approach provides variation data on the positions that do not contribute to phylogenetic reconstructions, and these data provide a baseline for measuring human mitochondrial variation in populations worldwide.
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