Authenticating Ancient Human Mitochondrial DNA

  title={Authenticating Ancient Human Mitochondrial DNA},
  author={Rafael Montiel and Assumpci{\'o} Malgosa and Paolo Francalacci},
  journal={Human Biology},
  pages={689 - 713}
The use of ancient DNA techniques in human studies has been hampered by problems of contamination with modern human DNA. The main problem has been that the object of study belongs to the same species as the observer, and the complete elimination of the contamination risk is seemingly unlikely. Contamination has even been detected in the most specialized laboratories in this field. In these kinds of studies it is therefore very important to detect contamination and to distinguish contaminants… 

Figures and Tables from this paper

Neonate Human Remains: A Window of Opportunity to the Molecular Study of Ancient Syphilis

This is the most ancient case, reported to date, from which detection of DNA from T. pallidum subspecies pallidUM has been successful in more than one individual, and a hypothesis is put forward to explain this result, taking into account the course of the disease in neonate individuals.

Postmortem Miscoding Lesions in Sequence Analysis of Human Ancient Mitochondrial DNA

This study identifies the previously unreported presence of oxidative DNA damage and proposes that damage to degraded DNA templates is highly specific in type, correlating with the geographic location and the taphonomic conditions of the depositional environment from which the remains are recovered.

Determination of Human European Mitochondrial DNA Haplogroups by Means of a Hierarchical Approach

A hierarchical approach to screening of mitochondrial DNA (mtDNA) haplogroups in populations that have essentially West Eurasian mtDNA backgrounds but that could have some non-West Eurasian contributions, which results in a more rapid and cost-efficient screening than one in which all polymorphic positions are analyzed.

Determination of Human Caucasian Mitochondrial DNA Haplogroups by Means of a Hierarchical Approach

This hierarchical approach to screening of mitochondrial DNA (mtDNA) haplogroups in populations that have essentially West Eurasian mtDNA backgrounds but that could have some non–West Eurasian contributions allows us to define population movements on a continental level and can be applied with a low cost in any laboratory.

Extraction and analysis of ancient DNA from human remains of Masjede Kabood burial site

A nested PCR/restriction enzyme digestion method for molecular sex determination of the skeletal remains showed that reliable aDNA can be extracted and amplified from archeological remains and could be used as a reliable control for testing the authenticity of aDNA results.

Field Contamination of Skeletonized Human Remains with Exogenous DNA

Four cases are described here along with the controls in place in the laboratory to eliminate the possibility of the exogenous DNA being reported as authentic, and the controls implemented by the laboratories prevented the false reporting of contaminant exogenousDNA from remains that were either faunal or human, but lacked endogenous DNA.

Sex Determination in Highly Fragmented Human DNA by High-Resolution Melting (HRM) Analysis

This paper proposes a new method to identify sex, based on real-time PCR amplification of small fragments of the third exon within the amelogenin gene covering a 3-bp deletion on the AMELX-allele, followed by a High Resolution Melting analysis (HRM).

Mosaics of ancient mitochondrial DNA: positive indicators of nonauthenticity

  • H. Bandelt
  • Biology
    European Journal of Human Genetics
  • 2005
To reject or question authenticity of particular sequencing results a posteriori, one can follow similar strategies of focused database comparisons that have proven to be effective and successful in the case of flawed modern mtDNA data.

Temporal Mitochondrial DNA Variation in the Basque Country: Influence of Post‐Neolithic Events

The variability of the mtDNA haplogroups of the historical population of Aldaieta falls within the range of the present‐day populations of Europe's Atlantic fringe, whereas the prehistoric populations of the Basque Country display clear differentiation in relation to all others.

t echnical tips for Obtaining reliable DNA Identification of Historic Human remains

Historic archaeologists and DNA researchers are provided here with specific technical tips in order to obtain reliable DNA results.



Authenticating DNA Extracted From Ancient Skeletal Remains

Work with a range of Holocene skeletal material from domestic animals and humans suggests that more than 50% of skeletal remains from the past two thousand years are likely to contain amplifiable endogenous DNA, but that in the case of human material great care is needed to distinguish this from contamination introduced before the samples reach the laboratory.

The retrieval of ancient human DNA sequences.

These results show that more experimental work than is often applied is necessary to ensure that DNA sequences amplified from ancient human remains are authentic and quantitation of the numbers of amplifiable molecules is a useful tool to determine the role of contaminating contemporary molecules and PCR errors in amplifications from ancient DNA.

Mitochondrial DNA sequences from a 7000-year old brain.

The sequences show that this ancient individual belonged to a mitochondrial lineage that is rare in the Old World and not previously known to exist among Native Americans, bringing to three the number of maternal lineages known to have been involved in the prehistoric colonization of the New World.

Ancient and modern mitochondrial DNA sequences and the colonization of the pacific

Results of mtDNA analyses on modern‐day Pacific populations indicate reduced genetic variability, and suggest that the Polynesians descend from people who migrated relatively recently from island Southeast Asia and that a population bottleneck occurred during the settlement of the central Pacific.

Phylogenetic affiliation of ancient and contemporary humans inferred from mitochondrial DNA.

Phylogenetic analysis indicated that part of the Asians, including the Japanese, subsequently diverged from the majority of Africans, and that Asians can therefore be separated into two distinct groups.

Ancient HLA genes from 7,500-year-old archaeological remains

Using DNA obtained from one individual, distinctive patterns of nucleotide substitution in the cloned heavy chain gene segments permit tentative assignment of the HLA-A,B type of the ancient individual.

[Amplification of mitochondrial DNA fragments from ancient human teeth and bones].

This work extracted and visualized DNA from ancient human teeth and bones of 150 to 5,500 years B.P. from three deposits from the south of France and showed that this sequence is identical to the homologous region of human mitochondrial DNA.

Classification of European mtDNAs from an analysis of three European populations.

The conclusion that most haplogroups observed in Europe are Caucasoid-specific, and that at least some of them occur at varying frequencies in different Caucasoid populations, is supported.

A MITOCHONDRIAL DNA DATABASE Applications to Problems of Nomenclature and Population Genetics

A database of the variability of the control region sequence (segment I), formatted in a Microsoft Excel file, can be used for easily grouping published sequences and showing further subdivision in monophyletic clusters (sub­ haplogroups) and pointing out the mutation hierarchy.