Pigment phenotype and biogeographical ancestry from ancient skeletal remains: inferences from multiplexed autosomal SNP analysis
- 702 Downloads
In the present study, a multiplexed genotyping assay for ten single nucleotide polymorphisms (SNPs) located within six pigmentation candidate genes was developed on modern biological samples and applied to DNA retrieved from 25 archeological human remains from southern central Siberia dating from the Bronze and Iron Ages. SNP genotyping was successful for the majority of ancient samples and revealed that most probably had typical European pigment features, i.e., blue or green eye color, light hair color and skin type, and were likely of European individual ancestry. To our knowledge, this study reports for the first time the multiplexed typing of autosomal SNPs on aged and degraded DNA. By providing valuable information on pigment traits of an individual and allowing individual biogeographical ancestry estimation, autosomal SNP typing can improve ancient DNA studies and aid human identification in some forensic casework situations when used to complement conventional molecular markers.
KeywordsAutosomal SNPs Pigmentation Ancestry Ancient DNA SNaPshot
We would like to thank all volunteers who participated to this study by giving us their DNA. We thank more particularly Sophie Lienart, Sarah Romac, Prisca Blandin, and Aurélie Marchet for their valuable technical help and Marie Lacan for pertinent comments during the redaction of this paper.
- 19.Branicki W, Brudnik U, Wojas-Pelc A (2005) Genetic prediction of pigmentary traits in forensic studies. Prob Forensic Sci 64:343–357Google Scholar
- 25.Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer KW, Hansen L (2008) Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression. Hum Genet 123:177–187PubMedCrossRefGoogle Scholar