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The Sakishima islands are members of the Ryukyu island chain, stretching from the southwestern tip of the Japanese archipelago to Taiwan in the East China Sea. Archaeological data indicate cultural similarities between inhabitants of prehistoric Sakishima and Neolithic Taiwan. Recent studies based on tooth crown traits show remarkably high inter-island diversity among Ryukyu islanders, suggesting that the Sakishima islanders might have genetic backgrounds distinct from main-island Okinawa people. To investigate the genetic diversity of the Ryukyu islanders, we analyzed mtDNA, Y chromosome, and autosomal short tandem repeat loci in a sample of main-island Okinawa people and Sakishima (Miyako and Ishigaki) islanders whose participated in a previous study of tooth crown morphology. Our phylogenetic analysis of maternal (mtDNA) and paternal (Y chromosome) lineages shows that the Sakishima islanders are more closely related to people from the Japanese archipelago than to Taiwan aborigines. Miyako islanders and the Hokkaido Ainu have the first and second highest frequencies (respectively) of the Y-chromosomal Aluinsertion polymorphism, which is a presumable Jomon marker. Genetic diversity statistics show no evidence of demographic reduction or of extreme isolation in each island's population. Thus, we conclude that 1) Neolithic expansion from Taiwan did not contribute to the gene pool of modern Sakishima islanders, 2) male-lineage of the Ryukyu islanders likely shares a common ancestor with the Hokkaido Ainu who are presumably direct descendants of the Jomon people, and 3) frequent reciprocal gene flow among islands has masked the trace of common ancestry in the Ryukyu island chain. KEY WORDS mtDNA; Y STR; YAP+/-; autosomal STR; population genetics; dual structure model DOI 10.1002/ajpa.21212

Several studies are conducted to explain the differences existing between the different dental traits and the geontypes present in the ectodysplasin A receptor (EDAR). The analysis also discusses the common variation in EDAR, which acts as a genetic determinant of the shovel-shaped incisors.

The people associated with the Jomon culture, the Neolithic inhabitants of Japan, are one of the key groups in the population history of East Asia, because they retain many archaic characters that may be traced back to Eurasian Upper Palaeolithic hunter--gatherers. In this study, the regional diversity of the Jomon skeletal series was estimated by applying the R-matrix method to 34 craniofacial measurements. The patterns of intraregional variation indicate little effect on the genetic structure of the Jomon from long-term gene flow stemming from an outside source. The regional diversities were further estimated by pooling all individuals into regional aggregates, and by computing the mean variance within local groups in each region. Although the pattern of phenotypic variation differs depending on the unit of analysis, the gradient of the diversity retains its identity. The Hokkaido region, the northernmost part of the Japanese archipelago, has the highest variance, followed by the regions of eastern Japan, while the southwestern regions have the lowest variance. These findings suggest that the Jomon ancestors of the northern part of Japan might have expanded southward to Honshu Island. Global analyses including samples from Eurasia, Africa, and Australia dating roughly to the same chronological periods as those of the Jomon samples, indicate that the Jomon cranial series share part of their ancestral gene pool with early northeastern Asians. The present findings support the archeologically suggested population growth and expansion in the northern half of the Eurasian continent during the late Pleistocene and early Holocene periods. KEY WORDS intraregional variation; population structure; R-matrix method; peopling of Northeast Asia

In and after the latest Neolithic period in Japan (~B.P. 2,300 years), there were two distinct waves of migration from eastern Asia. One is well known as successive episodes in which indigenous inhabitants of main-island Japan were intruded on by new arrivals with advanced technology, and of a different genetic stock. Another migration of people and culture, identified as the Okhotsk culture, reached the northeastern part of Hokkaido. As opposed to main-island Japan, the morphological continuity from the Neolithic to recent inhabitants in Hokkaido (Ainu) is notable, so that the evidence of admixture easily could have escaped notice. In this study, the effects of gene flow from an outside source on the pattern of among-group variation of Hokkaido Ainu are examined by means of two models. One is the R-matrix model comparing observed and expected craniometric variation for estimating differential external gene flow into a region. The other is a simple simulation model that estimates admixture in a population with two parental populations. The two approaches give similar results. The results suggest the possibility of admixture between the migrants from Northeast Asia, the Okhotsk culture people, and the indigenous inhabitants in Hokkaido during the 5th to 12th centuries A.D., at least in northeastern Hokkaido. Such gene flow may have a certain degree of effect on the genetic structure of recent Ainu. The findings further suggest morphological heterogeneity in Northeast Asia during the Holocene that has relevance for understanding the morphological heterogeneity seen through time in the New World. KEY WORDS Okhotsk culture people; admixture; simulative study; population structure; Jomon