A joint research group of RIKEN, Osaka University, and Keio University conducted a genome-wide sequence analysis of 2,200 Japanese populations and identified gene regions involved in adaptive evolution of the Japanese population.
"Adaptive evolution" is a phenomenon in which the properties of living things change with each generation in response to the surrounding environment.In the process, the diversity of biological blueprints (genome sequences) changes.Therefore, by examining the diversity of the genome sequence of the human population, it can be seen which gene region on the genome sequence has adapted to changes in the environment and that the population has evolved genetically.
This time, the joint research group analyzed adaptive evolution based on genomic sequence information for 2,200 Japanese population collected by Biobank Japan and Keio University School of Medicine Hyakuju Research Center.Whole-genome sequence analysis identified four genetic regions that have been the subject of adaptive evolution over the past few thousand years by examining the distribution of infrequently present genetic variation in the population.It was also revealed that these genetic variations have different frequencies in each region of Japan (especially the Okinawa region).
Furthermore, when the strength of adaptive evolution was investigated for the genetic variation that affects the onset of diseases and clinical test values in the Japanese population, alcohol metabolism such as drinking amount and nutrition such as lipid, blood glucose level, and uric acid level were investigated. Genetic variation affecting metabolic traits has been the main target of adaptive evolution.This is a different result from other human populations, suggesting that there was an adaptive evolution peculiar to the Japanese population.
In the future, this achievement will contribute to the elucidation of the history of the Japanese and the promotion of health in consideration of the genetic background, and it is expected that the elucidation of adaptive evolution will progress by constructing large-scale whole-genome sequence data.
Paper information:[Nature Communications] Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese
