Genetics and DNA Prediction of Appearance

Genetics and DNA Prediction of Appearance

Department Genetic Identification

Understanding the genetic basis of human appearance is of fundamental scientific importance, has medical relevance, and allows practical applications such as in forensics and anthropology. For instance, appearance prediction from DNA found at crime scenes allows the reconstruction of how a suspect looks like, providing useful information to find unknown perpetrators of crime not identifiable with current forensic DNA profiling. Moreover, appearance traits are involved in disease manifestation linking appearance genetics with medical genetics. Therefore, we are unveiling the genetic basis of various human appearance traits. From the genes we find, we identify the most trait predictive DNA markers, and use them to develop and validate genetic tools and statistical models for predicting appearance from DNA for applications in forensics or anthropology. For instance, our pioneering work on developing DNA test systems for eye and hair colour prediction incited the establishment of a new subfield within forensic genetics referred to as Forensic DNA Phenotyping. Moreover, we are investigating via functional genetic techniques why the identified DNA markers are associated with, and predictive for, appearance traits. We are also genetically linking appearance with disease such as for various skin phenotypes, and are exploring the genetic basis of appearance traits that change with age. 

Selected relevant publications:

• Liu et al. Prediction of male-pattern baldness from genotypes. Eur J Hum Genet. 2016 [PubMed: 26508577]
• Kayser, M. Forensic DNA Phenotyping: Predicting human appearance from crime scene material for investigative purposes. Forensic Sci Int Genet. 2015 18: 33-48. [PubMed: 25716572]
• Jacobs et al. IRF4, MC1R and TYR genes are risk factors for actinic keratosis independent of skin color. Hum Mol Genet. 2015 24: 3296-303. [PubMed: 25724930]
• Visser et al. Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping of the intronic rs12203592 enhancer to the IRF4 promoter. Hum Mol Genet. 2015 24: 2649-61. [PubMed: 25631878]
• Jacobs et al. A genome-wide association study identifies the skin color genes IRF4, MC1R, ASIP, and BNC2 Influencing facial pigmented spots. J Invest Dermatol. 2015 135: 1735-42. [PubMed: 25705849]
• Liu et al. Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up. Hum Genet. 2015, 134: 823-35. [PubMed: 25963972]
• King et al. Identification of the remains of King Richard III. Nat Commun. 2014, 5: 5631. [PubMed: 25463651]
• Liu et al. Common DNA variants predict tall stature in Europeans. Hum Genet. 2014, 133: 587-97. [PubMed: 24253421]
• Jacobs.et al. Intrinsic and extrinsic risk factors for sagging eyelids. JAMA Dermatol. 2014 150: 836-43. [PubMed: 24869959]
• Walsh et al. The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA. Forensic Sci Int Genet. 2013, 7: 98-115. [PubMed: 22917817]
• Visser et al. HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter. Genome Res. 2012, 22: 446-55. [PubMed: 22234890]
• Liu et al. A genome-wide association study identifies five loci influencing facial morphology in Europeans. PLoS Genet. 2012, 8: e1002932. [PubMed: 23028347]
• Kayser, M., de Knijff, P. Improving human forensics through advances in genetics, genomics and molecular biology. Nat Rev Genet. 2011 12: 179-92. [PubMed: 21331090]
• Branicki et al. Model-based prediction of human hair color using DNA variants. Hum Genet. 2011, 129: 443-54. [PubMed: 21197618]
• Walsh et al. IrisPlex: a sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information. Forensic Sci Int Genet. 2011, 5: 170-80. [PubMed: 20457092] 
• Liu et al. Digital quantification of human eye color highlights genetic association of three new loci. PLoS Genet. 2010 6: e1000934. [PubMed: 20463881]