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Early modern humans lived as hunter-gatherers for millennia before agriculture, yet the genetic adaptations of these populations remain a mystery. Here, we investigate selection in the ancient hunter-gatherer-fisher Jomon and contrast pre- and post-agricultural adaptation in the Japanese archipelago. Building on the successful validation of imputation with ancient Asian genomes, we identify selection signatures in the Jomon, particularly robust signals from variants, which may have influenced dark pigmentation evolution. The Jomon lacks well-known adaptive variants (, , and ), marking their emergence after the advent of farming in the archipelago. Notably, the and variants were prevalent in the archipelago 1,300 years ago, whereas the variant could have emerged later due to its absence in other ancient genomes. Overall, our study underpins local adaptation unique to the Jomon population, which in turn sheds light on post-farming selection that continues to shape contemporary Asian populations.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11176660 | PMC |
http://dx.doi.org/10.1016/j.isci.2024.110050 | DOI Listing |
bioRxiv
June 2025
Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.
The advent of efficient and accurate imputation for low coverage sequencing offers an unbiased alternative to SNP array imputation, increasing the accuracy of rare variant imputation across all populations. Since imputation accuracy generally increases with larger reference panel size and closer ancestry match between target and reference samples, leveraging imputation from multiple reference panels would facilitate better imputation accuracy; however, individual reference panel genotypes are often privacy protected. We present a novel meta-imputation method, MetaGLIMPSE, that combines estimates from multiple reference panels for low coverage sequencing imputation.
View Article and Find Full Text PDFMol Ecol Resour
July 2025
Australian Centre for Ancient DNA, School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia.
Ongoing advances in population genomic methodologies have recently enabled the study of millions of loci across hundreds of genomes at a relatively low cost, by leveraging a combination of low-coverage shotgun sequencing and innovative genotype imputation methods. This approach has the potential to provide abundant genotype information at low costs comparable to another widely used cost-effective genotyping approach-that is, SNP panels-while avoiding potential issues related to loci being ascertained in distantly related populations. Nonetheless, the wide adoption of imputation methods in humans and other species is currently constrained by the lack of publicly available reference panels that capture diversity representative of the target genomes-though the recent development of 'joint' imputation approaches, which allow genetic information from the target population to be used in genotype calling, may potentially mitigate this shortcoming.
View Article and Find Full Text PDFAnn Hum Genet
June 2025
Division of Applied Biomedical Sciences and Biotechnology, School of Health Sciences, IMU University, Kuala Lumpur, Malaysia.
Introduction: Southeast Asia (SEA) is a region with enriched human diversity and complex population history. Despite numerous small-scale population genetics studies being carried out, the map of human migration in this landmass remains fragmentary. Notably, the genetic affinities of the Orang Asli from Peninsular Malaysia and other SEA natives have not been comprehensively assessed.
View Article and Find Full Text PDFCell
July 2025
Department of Genetics, University of Szeged, 6726 Szeged, Hungary; Department of Archaeogenetics, Institute of Hungarian Research, 1041 Budapest, Hungary; Ancient and Modern Human Genomics Competence Centre, University of Szeged, 6726 Szeged, Hungary. Electronic address:
The nomadic Sarmatians dominated the Pontic Steppe from the 3rd century BCE and the Great Hungarian Plain from 50 CE until the Huns' 4th-century expansion. In this study, we present a large-scale genetic analysis of 156 genomes from 1st- to 5th-century Hungary and the Carpathian foothills. Our findings reveal minor East Asian ancestry in the Carpathian Basin (CB) Sarmatians, distinguishing them from other regional populations.
View Article and Find Full Text PDFFront Plant Sci
May 2025
Post-Graduation Program in Ecology, National Institute of Amazonian Research, Manaus, Brazil.
Plant responses to stress, inter-organismal signaling, and atmospheric chemistry are significantly influenced by leaf volatile isoprenoid (VI) emissions (e.g., isoprene and monoterpenes).
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