Bona fide colour: DNA prediction of human eye and hair colour from ancient and contemporary skeletal remains

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.

Colorful DNA polymorphisms in humans

“…4). Although forensic developmental validation of the HIrisplex assay is still underway, this DNA test system had recently been applied to human remains (teeth and bones) from contemporary times back to medieval times and provided a high success rate for eye and hair color prediction of deceased persons from their remains [173]. Notably, the golden gene SLC24A5 [133] rs1426654 did not contribute to hair color prediction in these studies because the derived allele Thr111 was largely fixed in Europeans.…”

Distribution of an allele associated with blond hair color across northern island melanesia

“…Studies of hair pigmentation variation and its underlying genetic causes have largely focused on populations of European descent, where hair color can range from very light blond to red, brown, and dark black (Valverde et al, 1995;Smith et al, 1998;Grimes et al, 2001;Sturm et al, 2003;Branicki et al, 2007;Sulem et al, 2007;Vaughn et al, 2008;Han et al, 2008;Kayser and Schneider, 2009;Mengel-From et al, 2009;Branicki et al, 2011;Draus-Barini et al, 2013;Walsh et al, 2013). A limited number of quantitative assessments of hair color in non-European populations indicate that there is substantially less variation in these groups than found in European populations (Shriver and Parra, 2000;Norton et al, 2006).…”

The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population

“…For example, pigmentation traits are known to be associated with a number of human diseases, including melanoma and nonmelanoma skin cancer. [1][2][3] Moreover, the prediction of pigmentation phenotypes from genotypes would be highly relevant to ancient DNA research [4][5][6] and, if and when legally possible, to forensic case work, particularly for solving cases without a suspect. 7,8 The aetiology of human pigmentation traits is thought to be highly complex, possibly involving gene-gene and gene-environment interactions, [9][10][11] and a high level of phenotypic diversity has been observed among individuals of European descent.…”