Y chromosomal dna variation and the peopling of Japan

Michael F. Hammer, Satoshi Horai

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1 Scopus citations


Four loci mapping to the nonrecombining portion of the Y chromosome were genotyped in three Japanese populations (Okinawa, Shizuoka and Aomori ) and Taiwanese. The Y Alu polymorphic (YAP) element is present in 42% of the Japanese and absent in the Taiwanese, confirming the irregular distribution of this polymorphism in Asia. Data from the four loci were used to determine genetic distances among populations, construct Y chromosome haplotypes, and estimate the degree of genetic diversity in each population. Evolutionary analysis of Y haplotypes suggests that polymorphisms at the YAP (DYS287) and DXYS5Y loci originated a single time, whereas restriction patterns at the DYS1 locus and microsatellite alleles at the DYS19 locus arose more than once. Genetic distance analysis indicated that the Okinawans are differentiated from Japanese living on Honshu. The data support the hypotheses that modern Japanese populations have resulted from distinctive genetic contributions involving the ancient Jomon people and Yayoi immigrants from Korea or mainland China, with Okinawans experiencing the least amount of admixture with the Yayoi. It is suggested that YAP(+) chromosomes migrated to Japan with the Jomon people >10,000 years ago and that a large infusion of YAP(-) chromosomes entered Japan with the Yayoi migration starting 2,300 years ago. Different degrees of genetic diversity carried by these two ancient lineages may be explained by the different lifestyles of the migrant groups, the size of the founding populations, and the antiquities of the founding events.

Original languageEnglish (US)
Pages (from-to)79
Number of pages1
JournalJapanese Journal of Human Genetics
Issue number1
StatePublished - 1996

ASJC Scopus subject areas

  • Genetics(clinical)


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