Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/51287
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dc.contributor.authorEndicott, P.en
dc.contributor.authorSanchez, J.en
dc.contributor.authorPichler, I.en
dc.contributor.authorBrotherton, P.en
dc.contributor.authorBrooks, J.en
dc.contributor.authorEgarter-Vigl, E.en
dc.contributor.authorCooper, A.en
dc.contributor.authorPramstaller, P.en
dc.date.issued2009en
dc.identifier.citationBMC Genetics, 2009; 10(1):1-14en
dc.identifier.issn1471-2156en
dc.identifier.issn1471-2156en
dc.identifier.urihttp://hdl.handle.net/2440/51287-
dc.description.abstractBackground. Progress in the field of human ancient DNA studies has been severely restricted due to the myriad sources of potential contamination, and because of the pronounced difficulty in identifying authentic results. Improving the robustness of human aDNA results is a necessary pre-requisite to vigorously testing hypotheses about human evolution in Europe, including possible admixture with Neanderthals. This study approaches the problem of distinguishing between authentic and contaminating sequences from common European mtDNA haplogroups by applying a multiplexed Single-Base-Extension assay, containing both control and coding region sites, to DNA extracted from the Tyrolean Iceman. Results. The multiplex assay developed for this study was able to confirm that the Iceman's mtDNA belongs to a new European mtDNA clade with a very limited distribution amongst modern data sets. Controlled contamination experiments show that the correct results are returned by the multiplex assay even in the presence of substantial amounts of exogenous DNA. The overall level of discrimination achieved by targeting both control and coding region polymorphisms in a single reaction provides a methodology capable of dealing with most cases of homoplasy prevalent in European haplogroups. Conclusion. The new genotyping results for the Iceman confirm the extreme fallibility of human aDNA studies in general, even when authenticated by independent replication. The sensitivity and accuracy of the multiplex Single-Base-Extension methodology forms part of an emerging suite of alternative techniques for the accurate retrieval of ancient DNA sequences from both anatomically modern humans and Neanderthals. The contamination of laboratories remains a pressing concern in aDNA studies, both in the pre and post-PCR environments, and the adoption of a forensic style assessment of a priori risks would significantly improve the credibility of resultsen
dc.description.statementofresponsibilityPhillip Endicott, Juan J Sanchez, Irene Pichler, Paul Brotherton, Jerome Brooks, Eduard Egarter-Vigl, Alan Cooper and Peter Pramstalleren
dc.language.isoenen
dc.publisherBiomed Centralen
dc.rights© 2009 Endicott et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.en
dc.subjectBone and Bones; Humans; DNA, Mitochondrial; Sensitivity and Specificity; Polymerase Chain Reaction; Sequence Analysis, DNA; Evolution, Molecular; Polymorphism, Genetic; Biological Evolutionen
dc.titleGenotyping human ancient mtDNA control and coding region polymorphisms with a multiplexed Single-Base-Extension assay: the singular maternal history of the Tyrolean Icemanen
dc.typeJournal articleen
dc.identifier.rmid0020091688en
dc.identifier.doi10.1186/1471-2156-10-29en
dc.identifier.pubid38159-
pubs.library.collectionEarth and Environmental Sciences publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidCooper, A. [0000-0002-7738-7851]en
Appears in Collections:Earth and Environmental Sciences publications
Australian Centre for Ancient DNA publications
Environment Institute Leaders publications

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