Abstract
BackgroundDNA analysis of ancient skeletal remains is invaluable in evolutionary biology for exploring the history of species, including humans. Contemporary human bones and teeth, however, are relevant in forensic DNA analyses that deal with the identification of perpetrators, missing persons, disaster victims or family relationships. They may also provide useful information towards unravelling controversies that surround famous historical individuals. Retrieving information about a deceased person’s externally visible characteristics can be informative in both types of DNA analyses. Recently, we demonstrated that human eye and hair colour can be reliably predicted from DNA using the HIrisPlex system. Here we test the feasibility of the novel HIrisPlex system at establishing eye and hair colour of deceased individuals from skeletal remains of various post-mortem time ranges and storage conditions.MethodsTwenty-one teeth between 1 and approximately 800 years of age and 5 contemporary bones were subjected to DNA extraction using standard organic protocol followed by analysis using the HIrisPlex system.ResultsTwenty-three out of 26 bone DNA extracts yielded the full 24 SNP HIrisPlex profile, therefore successfully allowing model-based eye and hair colour prediction. HIrisPlex analysis of a tooth from the Polish general Władysław Sikorski (1881 to 1943) revealed blue eye colour and blond hair colour, which was positively verified from reliable documentation. The partial profiles collected in the remaining three cases (two contemporary samples and a 14th century sample) were sufficient for eye colour prediction.ConclusionsOverall, we demonstrate that the HIrisPlex system is suitable, sufficiently sensitive and robust to successfully predict eye and hair colour from ancient and contemporary skeletal remains. Our findings, therefore, highlight the HIrisPlex system as a promising tool in future routine forensic casework involving skeletal remains, including ancient DNA studies, for the prediction of eye and hair colour of deceased individuals.
Highlights
DNA analysis of ancient skeletal remains is invaluable in evolutionary biology for exploring the history of species, including humans
These studies revealed that Denisovans represent a distinct archaic human taxon [2], which was impossible to conclude from the finger bone found as its only evidence, and highlighted that a genetic admixture likely occurred between both archaic human taxons and modern humans, respectively [1,2,3,4]
In all but one of the samples analysed the phenotypic eye and hair colour of the deceased individuals analysed were unknown, the previously obtained accuracy estimates from large numbers of individuals with known phenotype and genotype information provide reasonable confidence that the eye and hair colour phenotypes predicted in this study match the true phenotypes of the individuals before death
Summary
DNA analysis of ancient skeletal remains is invaluable in evolutionary biology for exploring the history of species, including humans. Contemporary human bones and teeth, are relevant in forensic DNA analyses that deal with the identification of perpetrators, missing persons, disaster victims or family relationships. They may provide useful information towards unravelling controversies that surround famous historical individuals. The application of generation DNA sequencing (NGS) technologies to ancient human bones has allowed the establishment of whole genome information on Neanderthals [1] and Denisovans [2] These studies revealed that Denisovans represent a distinct archaic human taxon [2], which was impossible to conclude from the finger bone found as its only evidence, and highlighted that a genetic admixture likely occurred between both archaic human taxons and modern humans, respectively [1,2,3,4]. There seems to be continual interest in the DNA analysis of remains from famous historical individuals as seen with studies about the last Russian Tsar Nikolaus II (1868 to 1918) and his close family [8,9,10,11], the Polish astronomer Nicolaus Copernicus (1473 to 1543) [12], the Italian poet and founder of humanism Francesco Petrarca (1304 to 1374) [13], or perhaps even the evangelist Luke [14] to name but a few examples
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