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Saitou, N.

Publications and source records attributed to Saitou, N..

5 recordsLinked to original sources

Genetic Basis of Social Structure in the Pastoral Nomads of Central Eurasia

Although the social structure of Central Eurasian pastoral nomads has been described as fluid and ad hoc by historians and anthropologists, its potential genetic basis remains poorly understood. To evaluate whether kinship based social organization has biological foundations, we surveyed Kazak populations in Jetisuu, Kazakstan, for genomic diversity with special reference to their kinship structure. We generated genome-wide SNP data ([~]750K) using GenoChip microarrays for 80 individuals from four Kazak clans in Jetisuu and 10 Kazaks from other regions. Our results reveal substantial concordance between genetic and genealogical data, with [~]64% of Jetisuu Kazaks sharing the same Y-chromosome haplotype, indicating they have a common paternal ancestry aligning with clan genealogies. By contrast, maternal lineages show remarkable heterogeneity, thereby reflecting female exogamy. Despite this sex-biased admixture pattern, autosomal SNPs reveal no pronounced population structure in Kazaks, suggesting genetic homogenization through ancient admixture followed by continuous gene flow between Kazak populations. Notably, Jetisuu Kazaks exhibit significantly reduced levels of runs of homozygosity (ROH) compared to their sedentary neighbors such as Turkmens, Tajiks, Uyghurs, and Uzbeks. This genomic signature likely results from clan exogamy, which functions as a biological mechanism to prevent inbreeding and maintain genetic diversity. Our findings demonstrate that nomadic social organization represents a sophisticated example of gene-culture co-evolution, where cultural practices have systematically shaped genetic patterns over centuries. These data provide new insights into historical pastoral nomadic societies and offer a nuanced perspective on anthropological debates about kinship authenticity in Central Eurasian nomads.

genetics↗

Genomes of the Golden Horde Elites and their Implications for the Rulers of the Mongol Empire

The Golden Horde, the northwestern extension of the Mongol Empire that was ruled by the eldest son of Genghis Khan (also spelled Chinggis Khan) and his descendants, played an important role in the history of Central Eurasia and eastern Europe. For this reason, the genetic profiles of Genghis Khan and his descendants are of keen academic and public interest. His Y-chromosome has been hypothesized to belong to haplogroup C3* (C2a1a3-F1918) but this has yet to be substantiated. To explore the genetic ancestry of Genghis Khan, we analyzed four archaeological individuals from the Golden Horde, including three males and one female, who were buried in separate medieval elite mausoleums in the Ulitau region of Kazakstan. One of the males is believed to be Joshi (Juchi), the eldest son of Genghis Khan. We generated genomic data from these archaeological individuals and found that the three males were paternally related, sharing the Y-chromosome haplogroup C3*, consistent with the hypothesized signature haplotype of Genghis Khan. In addition, we confirm that the Golden Horde elites derived most of their genomes from Ancient Northeast Asians (ANA) while having an additional ancestral component from either Ancient North Eurasians (ANE) or a Berel Scythian related population. Furthermore, we were able to identify their medieval relatives in the Mongolian Plateau through constructing an Identity by Descent (IBD) network.

genomics↗

Insights into Mus musculus subspecies population structure across Eurasia revealed by whole-genome sequence analysis

For more than 100 years, house mice (Mus musculus) have been used as a key animal model in biomedical research. House mice are genetically diverse, yet their genetic background at the global level has not been fully understood. Previous studies suggested that they originated in South Asia and diverged into three major subspecies almost simultaneously, approximately 350,000-500,000 years ago; however, they have spread across the world with the migration of modern humans in prehistoric and historic times ([~]10,000 years ago to present), and undergone secondary contact, which have complicated the genetic landscape of wild house mice. In this study, we sequenced the whole genomes of 98 wild house mice collected from Eurasia, particularly East Asia, Southeast Asia, and South Asia. We found that although wild house mice consist of three major genetic groups corresponding to the three major subspecies, individuals representing admixture between subspecies are much more ubiquitous than previously recognized. Furthermore, several samples showed an incongruent pattern of genealogies between mitochondrial and autosomal genomes. Using samples likely retaining the original genetic components of subspecies with least admixture, we estimated the pattern and timing of divergence among the subspecies. The results are important for understanding the genetic diversity of wild mice on a global level and the information will be particularly useful in future biomedical and evolutionary studies using laboratory mice established from these wild mice.

genomics↗

Exome sequences of toque macaques (Macaca sinica) of Sri Lanka reveal many amino acid changes

Macaques are one of the most widely used model organisms in biomedical research. Macaca mulatta and M. fascicularis are currently being used for toxicology, HIV, diabetes, neuroscience and psychiatric and psychological disorder researches. Many studies have been conducted on M. mulatta and M. fascicularis genomes for this purpose in order to understand the genomic properties of these species. Several M. fascicularis individuals from different geographical locations and also M. mulatta genomes have been sequenced and studied in depth for the purpose of understanding the phylogenetic and evolutionary relationships between various macaque populations. But still a gap in knowledge remains for other macaque populations such as the Sinica group. In this study for the very first time, we sequenced the exome of toque macaques (M. sinica), an endemic island population of Sri Lanka. Here we confirmed that M. sinica and M. thibetana cluster together and are closely related, also the three distinct phylogenetic groupings of fascicularis and sinica. We also found that M. sinica has less number of polymorphisms with respect to the reference genome M. mulatta signifying the smaller and restricted population size of this species.

evolutionary biology↗

The hominoid-specific gene DSCR4 is involved in regulation of human leukocyte migration

DSCR4 (Down syndrome critical region 4) is an orphan retrotransposon-derived de-novo originated protein coding gene present only in hominoids (humans and great apes). Despite being located on the medically critical genomic region and abundance of evidences indicating its functionality, the role of this gene in human cells was utterly unknown. Due to absence of any prior knowledge regarding the function of DSCR4, for the first time here we used a gene-overexpression approach to discover biological importance and cellular roles of this gene. Our analysis strongly indicates DSCR4 to be mainly involved in regulation of the interconnected biological pathways related to cell migration, coagulation and immune system. We also showed that the predicted biological functions are consistent with tissue-specific expression of DSCR4 in migratory immune system leukocyte cells and neural crest cells that shape facial morphology of human embryo. Immune system and neural crest cells are also shown to be affected in Down syndrome patients who suffer from the same type of DSCR4 misregulation as in our study which further support our findings. Providing evidence for the critical roles of DSCR4 in human cells, our findings establish the basis for further investigations on the roles of DSCR4 in etiology of Down syndrome and unique characteristics of hominoids.

genetics↗