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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
Statement of
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.
RMID: 0020071352
DOI: 10.1086/345378
Appears in Collections:Earth and Environmental Sciences publications
Australian Centre for Ancient DNA publications
Environment Institute Leaders publications

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