Mitochondrial genome variation and the origin of modern humans.

Article Details


Ingman M, Kaessmann H, Paabo S, Gyllensten U

Mitochondrial genome variation and the origin of modern humans.

Nature. 2000 Dec 7;408(6813):708-13.

PubMed ID
11130070 [ View in PubMed

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 between sites, and the consequence of parallel mutations causing difficulties in the estimation of genetic distance and making phylogenetic inferences questionable. Most comprehensive studies of the human mitochondrial molecule have been carried out through restriction-fragment length polymorphism analysis, providing data that are ill suited to estimations of mutation rate and therefore the timing of evolutionary events. Here, to improve the information obtained from the mitochondrial molecule for studies of human evolution, we describe the global mtDNA diversity in humans based on analyses of the complete mtDNA sequence of 53 humans of diverse origins. Our mtDNA data, in comparison with those of a parallel study of the Xq13.3 region in the same individuals, provide a concurrent view on human evolution with respect to the age of modern humans.

DrugBank Data that Cites this Article

NameUniProt ID
NADH-ubiquinone oxidoreductase chain 3P03897Details
NADH-ubiquinone oxidoreductase chain 4LP03901Details
Cytochrome c oxidase subunit 1P00395Details
NADH-ubiquinone oxidoreductase chain 6P03923Details
NADH-ubiquinone oxidoreductase chain 1P03886Details
NADH-ubiquinone oxidoreductase chain 4P03905Details
NADH-ubiquinone oxidoreductase chain 5P03915Details
NADH-ubiquinone oxidoreductase chain 2P03891Details
Cytochrome bP00156Details
Cytochrome c oxidase subunit 2P00403Details
ATP synthase subunit aP00846Details