MBE Advance Access originally published online on October 20, 2006
Molecular Biology and Evolution 2007 24(1):13-18; doi:10.1093/molbev/msl149
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A Comparative Analysis of numt Evolution in Human and Chimpanzee
* Department of Zoology, George S. Wise Faculty of Life Sciences, Tel Aviv University, Ramat Aviv 69978, Israel
Department of Biology and Biochemistry, University of Houston
E-mail: dgraur{at}uh.edu.
Accepted for publication October 11, 2006.
Mitochondrial DNA sequences are frequently transferred into the nuclear genome, giving rise to numts (nuclear DNA sequences of mitochondrial origin). So far, the evolutionary history of numts has largely been studied by using single genomes. Here, we present the first attempt to study numt evolution in a comparative manner by using a pairwise genomic alignment. The total number of numts was estimated to be 452 in human and 469 in chimpanzee. numts that were found in both genomes at identical loci were deemed to be orthologous; 391 numts (>80%) were classified as such. The preponderance of orthologous numts is due to the very short divergence time between the 2 hominoids. The rest of numts were deemed to be nonorthologous. Nonorthologous numts were subdivided into 1) ancestral numts that have lost an ortholog in one species through deletion (12 in human and 11 in chimpanzee), 2) new numts acquired by the insertion of a mitochondrial sequence after the divergence of the 2 species (34 in human and 46 in chimpanzee), and 3) paralogous numts created by the tandem duplication of a preexisting numt (2 in human). This approach also enabled us to reconstruct the numt repertoire in the common ancestor of humans and chimpanzees (409 numts). Our comparative approach is also useful in identifying the exact boundaries of numts.
Key Words: numts • comparative evolution • promiscuous DNA • human genome • chimpanzee genome • mitochondrial DNA • genome evolution • pseudogenes
1 Present address: National Evolutionary Synthesis Center, Durham, North Carolina, USA
William Martin, Associate Editor
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