The 86th Annual Meeting of the American Association of Physical Anthropologists (2017)


The Prediction of Human Pigmentation Phenotypes from DNA for Forensic and Anthropological Usage

SUSAN WALSH1, KRYSTAL BRESLIN1, RYAN ELLER1, CHARANYA MURALIDHARAN1, EWELINA POSPIECH2, LAKSHMI CHAITANYA3, ANDREAS WOLLSTEIN4, FAN LIU3, WOJCIECH BRANICKI5 and MANFRED KAYSER3.

1Biology, Indiana University Purdue University Indianapolis (IUPUI), Indianapolis, USA, 2Genetics & Evolution, Jagiellonian University, Kraków, Poland, 3Genetic Identification, Erasmus MC medical centre, Rotterdam, The Netherlands, 4Biology II, University of Munich (LMU), Munich, Germany, 5General Biochemistry, Jagiellonian University, Kraków, Poland

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The prediction of human physical appearance traits from DNA has an intelligence driven application in the field of forensic genetics when typical DNA profiling methods fail to provide a match. Forensic DNA phenotyping of pigmentation phenotypes, in particular; eye, hair and skin color, has led the way in this exciting area of research with the design of tools capable of predicting categorical pigment profiles from DNA collected at a crime scene. Herein also lies its usefulness in anthropological research where it may offer a better understanding of the evolution of pigmentation traits in humans through the restoration of color phenotypes to deceased individuals by the analysis of old and ancient remains (e.g. King Richard III). Currently, categorical eye, hair and skin color tools are capable of high levels of prediction accuracy using published tools, i.e. IrisPlex, HIrisPlex, HIrisPlex-S. However, due to the interpretation issues involved using categorical pigment descriptions, a movement towards the understanding and genetic basis of quantitative color and its prediction is preferred. Using newly developed computer programs that calculate the amount (per pixel) of eumelanin and pheomelanin in photographic imagery together with spectrophotometric data, a more quantitative phenotype description can now be generated. This, in combination with genome-wide SNP data, allows the performance of genome-wide association studies (GWAS) on newly collected datasets of US and European individuals. The goal is to unearth additional variants associated with iris, hair and skin color to improve our understanding of the unique variation between individuals in terms of their pigment palette.

This work was funded by the National Institute of Justice (award 2014-DN-BX-K031).