Abstract

In spite of past controversies, the field of ancient DNA is now a reliable research area due to recent methodological improvements. A series of recent large-scale studies have revealed the true potential of ancient DNA samples to study the processes of evolution and to test models and assumptions commonly used to reconstruct patterns of evolution and to analyze population genetics and palaeoecological changes. Recent advances in DNA technologies, such as next-generation sequencing make it possible to recover DNA information from archaeological and paleontological remains allowing us to go back in time and study the genetic relationships between extinct organisms and their contemporary relatives. With the next-generation sequencing methodologies, DNA sequences can be retrieved even from samples (for example human remains) for which the technical pitfalls of classical methodologies required stringent criteria to guaranty the reliability of the results. In this paper, we review the methodologies applied to ancient DNA analysis and the perspectives that next-generation sequencing applications provide in this field.

Highlights

  • In spite of past controversies, the field of ancient DNA is a reliable research area due to recent methodological improvements

  • We review the history of studies on ancient DNA from a methodological point of view, ranging from the most significant ones performed with the so-called “classical methodology” consisting in PCR amplification, cloning and traditional Sanger sequencing, to the more recent ones performed by next-generation sequencing technologies (NGS), which are promising to revolutionize the field of ancient DNA

  • This study showed that Neanderthal DNA shares more genetic variants with present-day humans from Eurasia than from sub-Saharan Africa i.e. on average 2.5 % of the genome of people outside Africa derive from Neanderthals

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Summary

Hydrolysis damage

For example, deamination of cytosine and adenine to uracil and hypoxathine, respectively. Results in the incorporation of erroneous bases during amplification and change of coding. UNG : Uracil-N-glycosylase; Spex: Single Primer Extension; PTB: N-phenylacyl thiazolium bromide. Multiple independent PCR Cloning and sequencing of several clones Uracil-N-glycolase treatment

PCR of overlapping fragments of short length
Beads Recovery and Count
Cluster generation
Library recovery
DNA recovery Enriched library
Applications of NGS technologies in the field of ancient
Conclusions
VisiGen Biotechnologies
Findings
Additional files
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