Polymorphisms and allele frequencies of the ABO blood group gene among the Jomon, Epi-Jomon and Okhotsk people in Hokkaido, northern Japan, revealed by ancient DNA analysis.

To investigate the genetic characteristics of the ancient populations of Hokkaido, northern Japan, polymorphisms of the ABO blood group gene were analyzed for 17 Jomon/Epi-Jomon specimens and 15 Okhotsk specimens using amplified product-length polymorphism and restriction fragment length polymorphism analyses. Five ABO alleles were identified from the Jomon/ Epi-Jomon and Okhotsk people. Allele frequencies of the Jomon/Epi-Jomon and Okhotsk people were compared with those of the modern Asian, European and Oceanic populations. The genetic relationships inferred from principal component analyses indicated that both Jomon/Epi-Jomon and Okhotsk people are included in the same group as modern Asian populations. However, the genetic characteristics of these ancient populations in Hokkaido were significantly different from each other, which is in agreement with the conclusions from mitochondrial DNA and ABCC11 gene analyses that were previously reported.

Human situs inversus of the thoracoabdominal structures.

Situs inversus totalis is well known, but its comprehensive description has been rare, especially on the internal view of the heart. For discussions based on recent results in developmental biology, the present study demonstrates a region- or part-specific manner of the inverted morphology found in a male donated cadaver and discusses the pathogenetic mechanisms of situs inversus in the human. Therein, clearly inverted morphologies existed in the coronary vessels, the apex position (dextracardia), connections between the heart and great vessels, the internal view of the atrium, the aortic arch with the three major branches, lung and liver segments and abdominal gastrointestinal tract. However, the ventricular internal view suggested incomplete laterality, such as tricuspid atrioventricular valves for both ventricles. The cardiac conductive system appeared not to be inverted but abnormal. The thoracic aorta and pulmonary artery took an L-spiral position with modifications. The inferior vena cava was located on the right side of the abdominal aorta. However, the left-sided kidney was located superior to the right-sided kidney. Similarly, the testicular vessels did not exhibit a clearly inverted morphology, but were almost normal. Therefore, the posterior mediastinal and retroperitoneal structures appeared to exhibit neutral laterality, incomplete inverted morphology or even normal morphology. According to the personal history and present histology, this specimen was unlikely to correspond to Kartagener's syndrome. The present observations seem to be consistent with recent findings in mutant models of laterality disturbances, in which a single gene or molecule is responsible for the changes in a region-specific manner.

Discovery of a second human molar and cranium fragment in the late Middle to Late Pleistocene cave of Ma U'Oi (Northern Vietnam).

In November 2002, during the second season of work by a Vietnamese-French-Japanese team, we discovered a human molar and a fragment of an occipital bone in the late Middle to Late Pleistocene cave of Ma U'Oi (Bacon et al., Geobios. 37 (2004) 305). The layer from which this material comes is the same as that in which a human lower molar was found in 2001. Both molars can be attributed to archaic Homo, and both exhibit archaic and modern traits.

Characterization of biological diversity through analysis of discrete cranial traits.

In the present study, the frequency distributions of 20 discrete cranial traits in 70 major human populations from around the world were analyzed. The principal-coordinate and neighbor-joining analyses of Smith's mean measure of divergence (MMD), based on trait frequencies, indicate that 1). the clustering pattern is similar to those based on classic genetic markers, DNA polymorphisms, and craniometrics; 2). significant interregional separation and intraregional diversity are present in Subsaharan Africans; 3). clinal relationships exist among regional groups; 4). intraregional discontinuity exists in some populations inhabiting peripheral or isolated areas. For example, the Ainu are the most distinct outliers of the East Asian populations. These patterns suggest that founder effects, genetic drift, isolation, and population structure are the primary causes of regional variation in discrete cranial traits. Our results are compatible with a single origin for modern humans as well as the multiregional model, similar to the results of Relethford and Harpending ([1994] Am. J. Phys. Anthropol. 95:249-270). The results presented here provide additional measures of the morphological variation and diversification of modern human populations.