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| Comparative Genomics and the evolution of human mitochondrial DNA: Assessing the effects of selection |
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| Author(s): Elson JL, Turnbull DM, Howell N |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 74 Issue: 2 Pages: 229-238 Published: FEB 2004 |
| Times Cited: 54 References: 31 |
| Abstract: This article provides evidence that selection has been a significant force during the evolution of the human mitochondrial genome. Both gene-by-gene and whole-genome approaches were used here to assess selection in the 560 mitochondrial DNA (mtDNA) coding-region sequences that were used previously for reduced-median-network analysis. The results of the present analyses were complex, in that the action of selection was not indicated by all tests, but this is not surprising, in view of the characteristics and limitations of the different analytical methods. Despite these limitations, there is evidence for both gene-specific and lineage-specific variation in selection. Whole-genome sliding-window approaches indicated a lack of selection in large-scale segments of the coding region. In other tests, we analyzed the ratio of nonsynonymous-to-synonymous substitutions in the 13 protein-encoding mtDNA genes. The most straightforward interpretation of those results is that negative selection has acted on the mtDNA during evolution. Single-gene analyses indicated significant departures from neutrality in the CO1, ND4, and ND6 genes, although the data also suggested the possible operation of positive selection on the AT6 gene. Finally, our results and those of other investigators do not support a simple model in which climatic adaptation has been a major force during human mtDNA evolution. |
| Document Type: Article |
| Language: English |
| Reprint Address: Howell, N (reprint author), MitoKor Inc, 11494 Sorrento Valley Rd, San Diego, CA 92121 USA |
Addresses:
1. MitoKor Inc, San Diego, CA 92121 USA
2. Univ Newcastle Upon Tyne, Sch Med, Sch Neurol Neurobiol & Psychiat, Mitochondrial Res Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear England
3. Univ Texas, Med Branch, Dept Radiat Oncol, Galveston, TX 77550 USA |
| Publisher: UNIV CHICAGO PRESS, 1427 E 60TH ST, CHICAGO, IL 60637-2954 USA |
| Subject Category: Genetics & Heredity |
| IDS Number: 772UM |
| ISSN: 0002-9297 |
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