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… 
View on Nature
genome.ou.edu
1,394 Citations
Highly Influential Citations
110
Background Citations
528
Methods Citations
124
Results Citations
45

1,394 Citations

Citation Type

Citation Type

Mitochondrial DNA Polymorphisms
TLDR
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.
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 41 REFERENCES
DNA sequence variation in a non-coding region of low recombination on the human X chromosome
TLDR
10 kb of non-coding DNA is sequenced in a region of low recombination at Xq13.3 to provide more answers about the genetic origin and history of humans.
Nucleotide sequence evidence for rapid genotypic shifts in the bovine mitochondrial DNA D-loop
TLDR
The nucleotide sequence of all or part of the D-loop region in 14 maternally related Holstein cows is determined to help answer the question of how individual variant mtDNA molecules resulting from mutational events can come to dominate the large intracellular mtDNA population so rapidly.
African populations and the evolution of human mitochondrial DNA.
TLDR
The African origin hypothesis of human mtDNA evolution is supported by two statistical tests and two hypervariable segments of mtDNA were sequenced from 189 people of diverse geographic origin, including 121 native Africans.
Age of the common ancestor of human mitochondrial DNA.
  • M. Nei
  • Biology
    Molecular biology and evolution
  • 1992
TLDR
Vigilant et al. ( 199 1) concluded that the root of the phylogenetic tree for H mtDNAs is located at a sequence from African populations and that the age of the common H ancestral mtDNA is 166,000-249,000 years, but Hedges and Templeton challenged the first of these conclusions, showing that valid statistical tests do not support it.
Rapid evolution of animal mitochondrial DNA.
TLDR
The rate of evolution of the mitochondrial genome appears to exceed that of the single-copy fraction of the nuclear genome by a factor of about 10 and is likely to be an extremely useful molecule to employ for high-resolution analysis of the evolutionary process.
Estimation of the number of nucleotide substitutions in the control region of mitochondrial DNA in humans and chimpanzees.
TLDR
A new mathematical method for estimating the number of transitional and transversional substitutions per site, as well as the total number of nucleotide substitutions, suggested that the transition/transversion ratio for the entire control region was approximately 15 and nearly the same for the two species.
Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs.
TLDR
The shallow ancestry of human mtDNAs, together with the observation that the African sequence is the most diverged among humans, strongly supports the recent African origin of modern humans, Homo sapiens sapiens.
Mitochondrial COII sequences and modern human origins.
TLDR
The mitochondrial DNA sequence data from COII and ND4-5 regions therefore do not support this multiregional hypothesis for the emergence of modern humans and are compatible with a 1-Myr-old human mitochondrial ancestor.
Genetic Structure of the Ancestral Population of Modern Humans
TLDR
This ancestral population was characterized by an effective size of about 10,000 as estimated from the nucleotide diversity; this size may describe the number of breeding individuals over a long time during the Middle Pleistocene or reflect a speciation bottleneck from an initially larger population at the end of this period.
Maternal inheritance of human mitochondrial DNA.
TLDR
The results of this study demonstrate that human mitochondrial DNA is maternally inherited and represents a convenient way to obtain data on mitochondrial DNA variation in both individuals and populations.
...
1
2
3
4
5
...