Skin Pigmentation Differences between Mongolian, Korean, and Uzbekistan Ancient Human DNA Samples

Area of Science:

• Paleogenetics
• Human Population Genetics
• Molecular Anthropology

Background:

• Investigates the OCA2 gene single nucleotide polymorphism (SNP) rs1545397, a marker for skin pigmentation.
• Utilizes ancient and degraded DNA from human skeletal remains from Mongolia, Korea, and Uzbekistan.
• Employs real-time PCR with LightCycler-based probes (HybProbes) for SNP identification.

Purpose of the Study:

• To identify the skin pigmentation-associated SNP rs1545397 in ancient human DNA samples.
• To determine the distribution of OCA2 gene genotypes in prehistoric populations of Mongolia, Korea, and Uzbekistan.
• To infer population movements and heterogeneity based on genetic markers.

Main Methods:

• Real-time PCR using LightCycler system (version 2.0).
• Design of specific HybProbes for SNP rs1545397 detection.
• Melting curve analysis for accurate genotype determination (T/T, A/A, A/T).
• Comparison of real-time PCR results with direct sequencing.

Main Results:

• Successfully genotyped SNP rs1545397 in ancient DNA samples.
• Distinguished three genotypes (T/T, A/A, A/T) based on distinct melting curve peaks.
• Mongolian ancient DNA (aDNA) showed a mix of all three genotypes (A/T, A/A, T/T).
• Korean aDNA predominantly carried the Asian genotype (T/T), while Uzbekistan aDNA favored the European genotype (A/A).

Conclusions:

• Mongolian ancient populations exhibited significant heterogeneity in skin color and other traits.
• Prehistoric Korean populations primarily possessed the Asian genotype for skin pigmentation.
• Uzbekistan's Neolithic population likely comprised Eurasian or mixed ancestry, indicated by a higher frequency of the European genotype.