Pigment phenotype and biogeographical ancestry from ancient skeletal remains: inferences from multiplexed autosomal SNP analysis.
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.
Laboratoire d'Anthropologie Moléculaire, Institut de Médecine Légale, 11 rue Humann, 67085 Strasbourg Cedex, France. caroline.bouakaze@ulp.u-strasbg.fr
Caroline
C
Bouakaze
Christine
C
Keyser
Eric
E
Crubézy
Daniel
D
Montagnon
Bertrand
B
Ludes
D000951:Antigens, Neoplasm / Q000235:genetics; D017920:Antiporters / Q000235:genetics; D053836:DNA Degradation, Necrotic; D016172:DNA Fingerprinting; D005127:Eye Color / Q000235:genetics*; D018732:Forensic Anthropology; D005838:Genotype; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics; D006200:Hair Color / Q000235:genetics*; D006801:Humans; D019746:Intramolecular Oxidoreductases / Q000235:genetics; D026901:Membrane Transport Proteins / Q000235:genetics; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D044469:Racial Groups / Q000235:genetics*; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics; D012880:Skin Pigmentation / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases
D000951:Antigens, Neoplasm; D017920:Antiporters; D020662:Guanine Nucleotide Exchange Factors; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; D044102:Receptor, Melanocortin, Type 1; C506584:SLC24A5 protein, human; C510061:SLC45A2 protein, human; C118566:HERC2 protein, human; D044767:Ubiquitin-Protein Ligases; D019746:Intramolecular Oxidoreductases; C042501:dopachrome isomerase