Kaessmann, H., Heissig, F., von Haeseler, A. mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe. Geographic origins of human mitochondrial DNA: phylogenetic evidence from control region sequences. Estimation of the number of nucleotide substitutions in the control region of mitochondrial DNA in humans and chimpanzees. Maternal inheritance of human mitochondrial DNA. Rapid evolution of animal mitochondrial DNA. Nucleotide sequence evidence for rapid genotypic shifts in the bovine mitochondrial DNA D-loop. Our mtDNA data, in comparison with those of a parallel study of the Xq13.3 region 7 in the same individuals, provide a concurrent view on human evolution with respect to the age of modern humans. 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. Most comprehensive studies of the human mitochondrial molecule have been carried out through restriction-fragment length polymorphism analysis 6, providing data that are ill suited to estimations of mutation rate and therefore the timing of evolutionary events. ![]() These studies are complicated by the extreme variation in substitution rate between sites, and the consequence of parallel mutations 4 causing difficulties in the estimation of genetic distance and making phylogenetic inferences questionable 5. 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. 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 1, high substitution rate 2 and maternal mode of inheritance 3.
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