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Insertions and duplications of mtDNA in the nuclear genomes of Old World monkeys and hominoids

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Abstract

USING oligonucleotide primers designed to match conserved regions of mammalian mitochondrial DNA (mtDNA)1, we have amplified and sequenced two divergent cytochrome b nuclear pseudogenes from orangutan cellular DNA. Evolutionary analysis suggests that a nuclear transfer occurred about 30 million years ago on the lineage leading to the catarrhines (Old World monkeys and hominoids), and involved a long (at least 3 kilobases), probably damaged, piece of mtDNA. After this transfer, the pseudogene duplicated, giving rise to the two copies that are probably present in all hominoids, including humans. More recent transfers involving the entire cytochrome b gene have also occurred in the Old World monkeys. Such nuclear copies of mtDNA can confound phylo-genetic and population genetic studies2–4, and be an insidious source of DNA contamination of 'ancient'3,5 and forensic DNA. Indeed, contamination with these anciently transferred human pseudogenes5 is almost certainly the source of the cytochrome b sequences recently reported from 'dinosaur bone 'DNA'6.

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  1. Caro-Beth Stewart: To whom correspondence should be addressed.

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  1. Department of Biological Sciences, University at Albany, State University of New York, Albany, New York, 12222, USA

    Randall V. Collura & Caro-Beth Stewart

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  1. Randall V. Collura
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Collura, R., Stewart, CB. Insertions and duplications of mtDNA in the nuclear genomes of Old World monkeys and hominoids. Nature 378, 485–489 (1995). https://doi.org/10.1038/378485a0

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