Distribution patterns of postmortem damage in human mitochondrial DNA

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dc.contributor.authorGilbert, M.
dc.contributor.authorWillerslev, E.
dc.contributor.authorHansen, A.
dc.contributor.authorBarnes, I.
dc.contributor.authorRudbeck, L.
dc.contributor.authorLynnerup, N.
dc.contributor.authorCooper, A.
dc.date.issued2003
dc.description© 2003 by The American Society of Human Genetics. All rights reserved.
dc.description.abstractThe 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.
dc.description.statementofresponsibilityM. Thomas P. Gilbert, Eske Willerslev, Anders J. Hansen, Ian Barnes, Lars Rudbeck, Niels Lynnerup, and Alan Cooper
dc.identifier.citationAmerican Journal of Human Genetics, 2003; 72(1):32-47
dc.identifier.doi10.1086/345378
dc.identifier.issn0002-9297
dc.identifier.issn1537-6605
dc.identifier.orcidCooper, A. [0000-0002-7738-7851]
dc.identifier.urihttp://hdl.handle.net/2440/38035
dc.language.isoen
dc.publisherUniv Chicago Press
dc.source.urihttps://doi.org/10.1086/345378
dc.subjectMitochondria
dc.subjectTooth
dc.subjectAnimals
dc.subjectUrsidae
dc.subjectHumans
dc.subjectDNA Damage
dc.subjectPostmortem Changes
dc.subjectElectron Transport Complex IV
dc.subjectDNA Glycosylases
dc.subjectN-Glycosyl Hydrolases
dc.subjectMitochondrial Proteins
dc.subjectDNA, Mitochondrial
dc.subjectPolymerase Chain Reaction
dc.subjectSpecies Specificity
dc.subjectMutagenesis
dc.subjectHaplotypes
dc.subjectUracil-DNA Glycosidase
dc.titleDistribution patterns of postmortem damage in human mitochondrial DNA
dc.typeJournal article
pubs.publication-statusPublished

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