Mosaics of ancient mitochondrial DNA: positive indicators of nonauthenticity

  title={Mosaics of ancient mitochondrial DNA: positive indicators of nonauthenticity},
  author={Hans-J{\"u}rgen Bandelt},
  journal={European Journal of Human Genetics},
  • H. Bandelt
  • Published 1 October 2005
  • Biology
  • European Journal of Human Genetics
Research into ancient mitochondrial DNA is plagued by contamination, post mortem damage, and other artefacts. The stringent set of controls suggested by Cooper and Poinar a few years ago are, however, rarely followed in practice, and even when applied carefully, these criteria need not be sufficient to guarantee authenticity. The fairly relaxed prerequisites now common for ancient population studies have opened the door for all kinds of contamination and sequencing errors to enter ancient mtDNA… 

Schmutzi: estimation of contamination and endogenous mitochondrial consensus calling for ancient DNA

By using sequence deamination patterns and fragment length distributions, schmutzi accurately reconstructs the endogenous mitochondrial genome sequence even when contamination exceeds 50 %, and given sufficient coverage, schMutzi also produces reliable estimates of contamination across a range of contamination rates.

More on contamination: the use of asymmetric molecular behavior to identify authentic ancient human DNA.

The degradation pattern in aDNA provides a quantifiable difference between authentic aDNA and modern contamination, which can be used to identify authentic haplotypes in human aDNA studies.

Aspects of Ancient Mitochondrial DNA Analysis in Different Populations for Understanding Human Evolution

The aim of this study was to shed light on human migratory processes and the formation of populations based on available ancient mtDNA data.

Aspects of Ancient Mitochondrial DNA Analysis in Different Populations for Understanding Human Evolution

  • D. Nesheva
  • Biology
    Balkan journal of medical genetics : BJMG
  • 2014
The aim of this study was to shed light on human migratory processes and the formation of populations based on available ancient mtDNA data.

Preferential access to genetic information from endogenous hominin ancient DNA and accurate quantitative SNP-typing via SPEX

The development of SPEX-type assays offers the potential for highly accurate, quantitative genotyping from ancient hominin samples and can preferentially access genetic information from damaged and degraded endogenous ancient DNA templates over modern human DNA contaminants.

Ancient DNA and the Neanderthals

Fragments of the non-coding portion of mtDNA of various lengths have been successfully isolated from a total of eight Neanderthal specimens. This has provided an insight into the mtDNA gene pool and

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

The new genotyping results for the Iceman confirm the extreme fallibility of human aDNA studies in general, even when authenticated by independent replication, and forms part of an emerging suite of alternative techniques for the accurate retrieval of ancient DNA sequences from both anatomically modern humans and Neanderthals.

Mitochondrial DNA variation of modern Tuscans supports the near eastern origin of Etruscans.

Interpopulation comparisons reveal that the modern population of Murlo, a small town of Etruscan origin, is characterized by an unusually high frequency (17.5%) of Near Eastern mtDNA haplogroups, supporting a direct and rather recent genetic input from the Near East--a scenario in agreement with the Lydian origin of ETruscans.

Complete Mitochondrial Genome Sequence of the Tyrolean Iceman




Detecting errors in mtDNA data by phylogenetic analysis

Some general rules by which likely errors in data tables can readily be detected without rereading whole sequences repeatedly are developed, and one can expect to lower the error rate by at least an order of magnitude, although it will still be hard to beat the mitochondrial gamma polymerase in precision.

Assessing ancient DNA studies.

Authenticating Ancient Human Mitochondrial DNA

This work reports the use of a strategy to authenticate the identity of ancient mitochondrial DNA (mtDNA), based on the previously established relationship between D-loop sequence substitutions and haplogroup-specific restriction site changes.

Hypersensitive PCR, Ancient Human mtDNA, and Contamination

It is suggested that PCR sensitivity be optimized to take advantage of highly efficient polymerase and at the same time prevent "background DNA" from becoming "contaminant DNA" and obscuring the analysis of authentic ancient DNA.

Artificial recombination in forensic mtDNA population databases

Focussed database searches, phylogenetic analysis, and network representations can highlight mosaic patterns and thus pinpoint sample mix-up and it is suggested that this approach should be applied to data prior to publication in order to uncover such errors in time.

Pitfalls in the analysis of ancient human mtDNA

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Authenticating DNA Extracted From Ancient Skeletal Remains

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Ancient DNA analysis of human populations.

Five well-preserved skeletal specimens from the western United States dating from 800-1600 A.D. yielded DNA samples with levels of contamination ranging from 0-100%, as determined by the presence or absence of New World-specific mitochondrial markers.

Genetic analyses from ancient DNA.

The precautions and criteria necessary to ascertain to the greatest extent possible that results represent authentic ancient DNA sequences are discussed, which highlight some significant results and areas of promising future research.