Evidence map›Paper›PMID 19545382›Full record

ArticleBMC genetics2009

Genotyping human ancient mtDNA control and coding region polymorphisms with a multiplexed Single-Base-Extension assay: the singular maternal history of the Tyrolean Iceman.

Phillip Endicott, Juan J Sanchez, Irene Pichler, Paul Brotherton, Jerome Brooks, Eduard Egarter-Vigl, Alan Cooper, Peter Pramstaller

Abstract read
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Article in BMC genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Phillip EndicottMuseèe de l'Homme, 17 place du Trocadero, 75116 Paris, France. phillip.endicott@gmail.com
Juan J Sanchez
Irene Pichler
Paul Brotherton
Jerome Brooks
Eduard Egarter-Vigl
Alan Cooper
Peter Pramstaller

Funding

Wellcome Trust
6 · The paper itself

Abstract

backgroundProgress 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.

resultsThe 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.

conclusionThe 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 results.

Indexed as

Biological EvolutionPolymorphism, GeneticBone and BonesDNA, MitochondrialEvolution, MolecularHumansPolymerase Chain ReactionSensitivity and SpecificitySequence Analysis, DNADNA, Mitochondrial

Identifiers

PMID19545382
PMCPMC2717998

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.