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
April 21, 2017 , Studio 7
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).