Sequence Evolution of Mitochondrial DNA in Humans and Chimpanzees: Control Region and a Protein-Coding Region
Complete primary structures for the major non-coding region of 13 human and two chimpanzee mitochondrial DNAs (mtDNAs) were determined by direct sequencing via the polymerase chain reaction and compared to published sequences for one other human and two other chimpanzees. The human mtDNAs were chosen to represent the deepest branches found in a genealogical tree relating the restriction maps of 182 types of mtDNA. With the four chimpanzee sequences as outgroups, it was possible to place a root on the tree relating the human sequences. This root is consistent with the idea of an African origin for human mtDNA but does not rule out alternative hypotheses. Our sequences confirm a previous finding that the probability of substitution varies greatly among sites in the control region, some sites being so variable that they have probably changed many times since chimpanzees and humans had a common ancestor. In addition, our results show that the pattern of substitution in the control region has diverged since chimpanzees and humans had a common ancestor. These two observations may help to explain why it is hard to root the human tree with chimpanzee sequences as well as to determine the time of common ancestry for humans using the control region. Therefore, sequences were also obtained for a more slowly-evolving part of mtDNA, viz an 896-bp segment which includes parts of the genes for NADH dehydrogenase subunits 4 and 5. They show that the extent of divergence among humans in this segment of mtDNA is less than 3/79 of that between humans and chimpanzees. This result reinforces estimates based on restriction mapping that the last common ancestor of the humans sampled existed less than 200,000 years ago.
KeywordsControl Region African Origin NADH Dehydrogenase Subunit Mitochondrial Control Region Conserve Sequence Block
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