Mitochondrial genome variation and the origin of modern humans

@article{Ingman2000MitochondrialGV,
  title={Mitochondrial genome variation and the origin of modern humans},
  author={Max Ingman and Henrik Kaessmann and Svante P{\"a}{\"a}bo and Ulf Gyllensten},
  journal={Nature},
  year={2000},
  volume={408},
  pages={708-713}
}
The analysis of mitochondrial DNA (mtDNA) has been a potent tool in our understanding of human evolution, owing to characteristics such as high copy number, apparent lack of recombination, high substitution rate and maternal mode of inheritance. However, almost all studies of human evolution based on mtDNA sequencing have been confined to the control region, which constitutes less than 7% of the mitochondrial genome. These studies are complicated by the extreme variation in substitution rate… 
Mitochondrial DNA Polymorphisms
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The analysis of genetic variation occurring in human mitochondrial deoxyribonucleic acid has characterised the field of human population genetics since this small molecule has been sequenced in 1981 and highlighted that mtDNA polymorphisms are not neutral but they affect many phenotypic traits.
Analysis of the complete human mtDNA genome: methodology and inferences for human evolution.
TLDR
A suitable methodology for determining the complete human mitochondrial sequence and the global mtDNA diversity in humans is described and the implications with respect to the different hypotheses for the evolution of modern humans are discussed.
Mutation patterns of mtDNA: Empirical inferences for the coding region
TLDR
The empirical estimation of mtDNA coding region mutation rate, calculated taking into account the sex of individuals carrying new mutations, the probability of intra-individual fixation of mutations present in heteroplasmy and, to the possible extent, the effect of selection, is similar to that obtained using phylogenetic approaches.
Mitochondrial DNA and human evolution.
TLDR
It is concluded that increasingly, mtDNA studies are (and should be) supplemented with analyses of the Y-chromosome and other nuclear DNA variation.
Mutation and linkage disequilibrium in human mtDNA
TLDR
The mutational explanation for the patterns observed in mtDNA appears to faithfully record the history of sequential mutation over time in maternal lineages, and there is no reason to resort to a recombinational explanation.
Maternal ancestry and population history from whole mitochondrial genomes
TLDR
In the era of whole nuclear genome sequencing, mitochondrial genomes are continuing to be informative as a unique tool for the assessment of female-specific aspects of the demographic history of human populations.
Distribution of nucleotide substitutions in human mitochondrial DNA genes
TLDR
The results did not provide the conclusion that the G-nucleotide instability observed in the mtDNA L-spectra was determined by the mechanism of asynchronous mtDNA replication, along with the deamination of cytosines in the H-chain regions, which remained single-stranded during replication.
Revealing the hidden complexities of mtDNA inheritance
TLDR
It is shown how it is possible to account for recombination and heteroplasmy in evolutionary and population analyses, but that accurate estimates of the frequencies of biparental inheritance and recombination are needed.
The Mitochondrial Genome and Human Mitochondrial Diseases
TLDR
Since both neutral and mildly pathogenic mutations of mtDNA are progressively accumulated in maternal phyletic lines, molecular analysis of these mutations permits not only reconstruction of the genealogical tree of modern humans, but also estimation of the role that these mutations play in natural selection.
The Population Biology of Mitochondrial DNA and Its Phylogenetic Implications
TLDR
It is argued that developing a fuller understanding of the biology of mitochondria is essential for the rigorous application of mtDNA to inferences about the evolutionary history of species or populations.
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