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https://hdl.handle.net/2440/38035
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Type: | Journal article |
Title: | Distribution patterns of postmortem damage in human mitochondrial DNA |
Author: | Gilbert, M. Willerslev, E. Hansen, A. Barnes, I. Rudbeck, L. Lynnerup, N. Cooper, A. |
Citation: | American Journal of Human Genetics, 2003; 72(1):32-47 |
Publisher: | Univ Chicago Press |
Issue Date: | 2003 |
ISSN: | 0002-9297 1537-6605 |
Statement of Responsibility: | M. Thomas P. Gilbert, Eske Willerslev, Anders J. Hansen, Ian Barnes, Lars Rudbeck, Niels Lynnerup, and Alan Cooper |
Abstract: | The distribution of postmortem damage in mitochondrial DNA retrieved from 37 ancient human DNA samples was analyzed by cloning and was compared with a selection of published animal data. A relative rate of damage (rho(v)) was calculated for nucleotide positions within the human hypervariable region 1 (HVR1) and cytochrome oxidase subunit III genes. A comparison of damaged sites within and between the regions reveals that damage hotspots exist and that, in the HVR1, these correlate with sites known to have high in vivo mutation rates. Conversely, HVR1 subregions with known structural function, such as MT5, have lower in vivo mutation rates and lower postmortem-damage rates. The postmortem data also identify a possible functional subregion of the HVR1, termed "low-diversity 1," through the lack of sequence damage. The amount of postmortem damage observed in mitochondrial coding regions was significantly lower than in the HVR1, and, although hotspots were noted, these did not correlate with codon position. Finally, a simple method for the identification of incorrect archaeological haplogroup designations is introduced, on the basis of the observed spectrum of postmortem damage. |
Keywords: | Mitochondria Tooth Animals Ursidae Humans DNA Damage Postmortem Changes Electron Transport Complex IV DNA Glycosylases N-Glycosyl Hydrolases Mitochondrial Proteins DNA, Mitochondrial Polymerase Chain Reaction Species Specificity Mutagenesis Haplotypes Uracil-DNA Glycosidase |
Description: | © 2003 by The American Society of Human Genetics. All rights reserved. |
DOI: | 10.1086/345378 |
Published version: | http://dx.doi.org/10.1086/345378 |
Appears in Collections: | Aurora harvest Australian Centre for Ancient DNA publications Earth and Environmental Sciences publications Environment Institute Leaders publications |
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