Scientists have identified evidence of a previously unrecognized third ancestral group in the Japanese population. This discovery challenges the long-held “dual origins” theory of Japanese ancestry. Researchers analyzed the genomes of over 3,200 individuals across Japan. The findings suggest a more complex genetic history than previously understood.
The study, conducted by researchers at RIKEN's Center for Integrative Medical Sciences, found that this new ancestral component is linked to northeastern Asia. It may be connected to the ancient Emishi people of northeastern Japan. The research also uncovered inherited Neanderthal and Denisovan DNA. This ancient DNA is associated with modern health conditions such as type two diabetes, heart disease, and certain cancers.
The analysis showed significant genetic diversity within Japan, which was previously considered more homogenous. Jomon hunter-gatherer ancestry was strongest in Okinawa, while western Japan showed stronger genetic ties to Han Chinese populations. This reflects historical migration waves from continental East Asia. The newly identified Emishi-related ancestry was concentrated in northeastern Japan.
Whole-genome sequencing provided detailed genetic information, reading billions of DNA base pairs. This method offers significantly more data than traditional techniques. The researchers combined this genetic information with medical and family histories to create a comprehensive database. This database, called the Japanese Encyclopedia of Whole-Genome/Exome Sequencing Library (JEWEL), helps identify rare genetic variants that offer clues about ancient migration patterns.
The study also explored archaic DNA from Neanderthals and Denisovans. One Denisovan-derived region was linked to type two diabetes. Eleven Neanderthal-derived genetic segments were connected to conditions like coronary artery disease, prostate cancer, and rheumatoid arthritis. This research aims to improve personalized medicine by understanding how genetic differences affect health and disease risk in the Japanese population.
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