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Whole‐Genome Sequencing Pilot of the Central Asian Genomic Diversity Project Reveals Distinct Histories, Adaptation, and Introgression
Advanced Science · 2026 · DOI
Central Asians are underrepresented in genomic research, limiting insights into their genetic history and disease risk. We established the Central Asian Genomic Diversity Project and sequenced whole genomes from 166 individuals across 20 Central Asian and Afghan Hazara groups. We identify marked differentiation driven by varying West/East Eurasian ancestry; Tajiks align with West Eurasians, Dungans with East Asians, and we report four geographically structured Turkic-related clusters, two Indo-European clines, and long-range migration events, including Siberian links in Hazaras and Sino-Tibetan ties in Dungans. Admixture dates cluster ∼650-1000 years ago, coinciding with the Song-Yuan era and Mongol expansion. We characterize distinct distributions of medically relevant variants and population-specific adaptation signatures across metabolic, immune, and neurological pathways, and illuminate shifts in subsistence practices correlated with trait-associated variation. We also detect Neanderthal-like and Denisovan-like segments that show group-specific associations with immunity, psychiatric risk, drug metabolism, and diabetes, underscoring the scientific imperative for a broader characterization of Central Asian evolutionary history and informing precision medicine.
Genetic diversity of late Neanderthals in northwestern Europe
Open access
Nature · 2026 · 1 Citations · DOI
Abstract Archaeological, osteological and genetic evidence suggests that Neanderthals lived in small groups 1,2 ; however, less is known about whether these groups were part of isolated communities or belonged to larger, well-connected populations 3 . The dense concentration of broadly contemporaneous Neanderthal sites in the Meuse Basin, Belgium 4 , provides a rare opportunity to study regional populations at high resolution. Here we generated genetic data from 27 Neanderthals who lived less than approximately 52,500 years ago from ten archaeological sites in Belgium and France, including a high-coverage genome from a 45,000-year-old individual from Goyet, Belgium. We show that most of these individuals are more closely related to one another than to other contemporaneous late Neanderthals in Europe. Further, some of these individuals carry DNA from a Neanderthal lineage predating the split of late Neanderthals. Although these Neanderthals overlapped temporally with early modern humans in northwestern Europe from around 47,000 years ago, we find no evidence of recent gene flow from modern humans. They also do not show the genetic signatures of mating among close relatives found in Altai Neanderthals, suggesting that they lived in larger or better-connected groups. Moreover, genetic load did not accumulate over time, arguing against progressive genetic deterioration as a driver of Neanderthal extinction.
Unveiling the complexity of post-Roman polity formation in Pannonia using ancient DNA
Open access
Science · 2026 · 0 Citations · DOI
The transformation of the Roman world [fourth to ninth centuries common era (CE)], culminating in the Western Roman Empire’s fall, marked a fundamental transition in European history. Key questions persist regarding the regionally specific nature of this transformation. We generated a paleogenomic dataset to reconstruct post-Roman organizations in the Little Hungarian Plain at microregional resolution. Genetic and archaeological analyses of two Roman ( n = 68) and five post-Roman ( n = 246) sites reveal a rise in Northern European ancestry, reflecting large-scale population movements into this region. Moreover, despite post-Roman sites sharing similar genetic profiles, material culture, and burial practices, they show distinct social structures, especially regarding the role played by biological relatedness. These findings highlight local hierarchies and reveal the making of a post-Roman polity.
Population-scale Y chromosome assemblies reveal recurrent remodeling within constrained architectures
Open access
bioRxiv (Cold Spring Harbor Laboratory) · 2026 · 0 Citations · DOI
The human Y chromosome is among the most structurally dynamic chromosomes in the human genome, yet much of its diversity remains unresolved because of extensive palindromes, ampliconic gene families, satellite-rich heterochromatin and large segmental duplications. What remained unclear was how these diverse forms of variation fit together across the full chromosome, how often similar structures recur in different lineages, and which aspects of organization remain constrained despite rapid sequence turnover. Here, we generated and analyzed 142 nearly complete human Y chromosome assemblies from 17 major haplogroups spanning approximately 180,000 years of evolution, creating a population-scale resource for studying Y chromosome biology and diversity. These assemblies show that structural change on the Y chromosome is recurrent but constrained, even in its most repetitive regions. In the fertility-associated azoospermia factor c (AZFc) region, recurrent inversions, deletions, and complex rearrangements generate a limited repertoire of structural haplotypes. Multicopy ampliconic gene families follow distinct evolutionary paths: DAZ paralogues differ in structural constraint, RBMY evolves within a modular array, and TSPY copy number varies mainly through local expansion and contraction. The centromere and Yq12 heterochromatin vary greatly in size but retain a stable higher-order organization, including a single hypomethylated centromeric core and conserved Yq12 repeat composition and orientation. Methylation across palindromic and ampliconic regions is likewise structured by repeat class, copy order and local architecture. Together, these results provide a population-scale resource for the human Y chromosome and show that its rapid structural evolution is repeatedly funneled into a limited set of architectural outcomes.
A comprehensive analysis of Y-chromosomal diversity in Colombian populations
Open access
International Journal of Legal Medicine · 2026 · 0 Citations · DOI
Abstract An intense gene flow between Native, European, and African groups, since the colonial period, has led to complex admixture patterns throughout Colombia. To investigate this genetic structure, we analyzed 23 Y-STRs in 975 males from five major regions of the country: Andes, Pacific, Caribbean, Orinoquía, and Amazon. To explore the paternal lineages and to reconstruct the underlying historical and demographic processes, a subset of 175 individuals was genotyped for 859 Y-SNPs using massively parallel sequencing. A high haplotypic diversity was found for the 23 Y-STRs (0.9998), compared to other Latin American populations studied. Pairwise genetic distance analyses ( F ST and R ST ) showed a clearer differentiation among Colombian regions, when increasing the number of Y-STRs from 17 to 23. In population comparisons, Caribbean and Orinoquía regions clustered closer to European and Admixed populations, while the Pacific region moves towards African populations. The Amazon clustered with Peru and Ecuador that have high Native American ancestry. The predominant paternal ancestry in the Caribbean and Andes was European (79% and 87.9%, respectively), with macrohaplogroup R being the most frequent (39% and 64%, respectively). In the Caribbean region, sub-Saharan African lineages are the second most prevalent (16%), while in the Andean region the Native American lineages are the second most represented (7.6%), followed by a smaller proportion of sub-Saharan African lineages (4.5%). The results attest to the extensive regional genetic diversity within the country. The Y-STRs showed good intra and inter-population discrimination capabilities and support the establishment of specific regional databases for forensic purposes.
Y-STR Mutation Patterns in North Indian Male Relatives at 16 Loci: A Preliminary Study
Open access
GenoMed Connect · 2026 · 0 Citations · DOI
Y-chromosomal short tandem repeats (Y-STRs) are passed from father to son through the male line only. They change very little over generations and are widely used in forensic science and for tracing paternal ancestry. However, mutations at Y-STR loci can complicate relationship analyses, and may result in inaccurate exclusions during father-son or extended paternal lineage testing. . In this preliminary study, we looked for possible Y-STR mutations in 292 cases from the North Indian population. These cases included pairs of siblings, uncles and nephews, first cousins, and second cousins. We found a total of 29 mutations across 11 Y-STR markers out of 16 markers. All mutations were single-step changes consistent with the stepwise mutation model. The highest mutation rates were at DYS458 (0.006) and DYS385 (0.005), while loci such as DYS19, DYS390, and DYS389II had lower rates (0.001). These results align with previous findings on mutation rates at different loci. They also support the observation that Y-STRs with rapid mutations provide better information for distinguishing closely related paternal lineages. Our findings give baseline estimates of mutation rates for the North Indian populace, highlighting the need for population-specific data in forensic work and genealogical research.
Genetic Ancestry and Population Structure Across Ecuador
Open access
Genes · 2026 · 1 Citations · DOI
Background: Ecuador is a genetically diverse population setting shaped by long-term interactions among Native American, European, and African populations across distinct ecological regions. Although multiple studies have examined ancestry patterns in Ecuadorian populations, the available evidence remains fragmented and methodologically heterogeneous. Objective: To systematically identify, critically appraise, and synthesize published studies on genetic ancestry and population structure in Ecuador. Methods: A systematic review was conducted in accordance with PRISMA 2020. Searches were performed in PubMed/MEDLINE, Scopus, Web of Science Core Collection, SciELO, and Google Scholar through 31 January 2026. Eligible studies reported extractable ancestry-related data from Ecuadorian populations using autosomal, mitochondrial DNA, Y-chromosomal, or other ancestry-relevant genetic markers. Methodological quality was assessed using an adapted Joanna Briggs Institute framework. Owing to substantial heterogeneity across marker systems, sampling strategies, and ancestry inference methods, findings were synthesized qualitatively rather than by meta-analysis. Results: Of 1243 records identified, 12 studies met the inclusion criteria. Across marker systems, the evidence consistently supported a three-way admixture framework involving Native American, European, and African ancestry components, together with substantial regional and population-specific heterogeneity. Autosomal studies generally showed higher Native American ancestry in Highland and Native American populations, whereas African ancestry was more prominent in Afro-Ecuadorian and some Coastal populations. Uniparental markers further supported persistent sex-biased admixture, with predominant Native American maternal lineages and comparatively greater European or African paternal contributions depending on region and population history. Conclusions: Ecuadorian populations share a broad three-way admixture framework, but with marked internal heterogeneity across regions and population groups. These findings highlight the importance of geographic and demographic context in ancestry interpretation and the need for larger, more balanced, and methodologically standardized genomic studies in Ecuador.
Novel Y-STRs with elevated mutation rates further improve male relative differentiation
Open access
Forensic Science International Genetics · 2026 · 0 Citations · DOI
Y-chromosomal short tandem repeats (Y-STRs) with elevated mutation rates are valuable markers for distinguishing male suspects from their paternal male relatives - something that is typically not possible with standard Y-STRs. However, while the 26 rapidly mutating Y-STRs (RM Y-STRs) we identified in our two previous screens substantially improve male relative differentiation compared to standard Y-STRs, many close relatives cannot be separated with these markers. Aiming to further enhance the discrimination power of male relatives, particularly closely related ones, we performed a new chromosome-wide search for Y-STRs with elevated mutation rates by integrating in-silico marker discovery with experimental marker verification. Relative to previous screens, three major advancements were applied: (1) use of the Y-chromosome sequence from the telomere-to-telomere reference genome and other genomes, (2) consideration of all repeat motifs from homopolymers to hexanucleotides, and (3) use of targeted massively parallel sequencing to genotype male relatives for marker verification. To ensure robust allele calling and mutation detection for dinucleotide repeats prone to PCR slippage, we developed and applied a novel curve-fitting approach that accounts for all observed signals: true alleles and stutter products. Overall, we identified 14 novel Y-STRs with previously unreported elevated mutation rates, most of which were dinucleotide repeats. Relative to the 30-marker set of the RMplex tool, this novel set increased the empirical differentiation rates of close relatives separated by 1-4 meioses by 20.0%, 15.6%, 9.9% and 4.1%, respectively. The combined set of 44 novel and previous markers empirically differentiated 46.9%, 80.4%, 86.4%, and 84.8% of close relatives separated by 1-4 meioses and 96.4-100% of distant relatives separated by 5-15 meioses. The differentiation capacities of this 44-marker set, estimated from locus-specific mutation rates, were 50.2%, 75.2%, 87.6%, and 93.8% for these close relatives and 96.9-100% for the distant ones. Provided the development and successful forensic validation of a targeted genotyping tool, we anticipate that this expanded set of 44 Y-STRs with elevated mutation rates will enhance the ability to distinguish a male suspect from his paternal male relatives. This will benefit solving criminal cases where an autosomal STR profile of the male perpetrator cannot be generated and where standard Y-STR profiling yields a haplotype match between the suspect and the trace as well as haplotype sharing between the suspect and his male relative(s).
Paternal genetic structure and Y-chromosomal haplogroup prediction in the Tujia and Bai ethnic groups of Guizhou, Western China
Open access
BMC Genomics · 2026 · 0 Citations · DOI
BACKGROUND: Y chromosome genetic markers, with strict paternal inheritance and lack of recombination, are particularly valuable tools for tracing male lineages. They complement autosomal analyses in forensic applications and anthropological inference by increasing resolution for patrilineal structure. METHODS: We genotyped 382 unrelated male individuals from two Tibeto-Burman-speaking populations in Guizhou (Tujia, n = 220; Bai, n = 162) using the Goldeneye DNA Identification System Y Plus kit comprising 44 Y-markers. We calculated haplotype-level forensic indices and assessed inter-population structure via Rst-based multidimensional scaling (MDS) and a neighbor-joining (NJ) tree, based on genetic distances with 47 reference groups. Y-chromosomal haplogroups were predicted from Y-STR profiles to characterize paternal lineages. RESULTS: In the Tujia population, 338 alleles and 219 haplotypes were detected, with allelic frequencies ranging from 0.0045 to 0.9364. The haplotype diversity (HD), haplotype match probability (HMP), and discrimination capacity (DC) were 0.9999, 0.0046, and 0.9955, respectively. In the Bai population, 309 alleles and 141 haplotypes were detected, with allelic frequencies ranging from 0.0062 to 0.9691, with HD = 0.9979, HMP = 0.0083, and DC = 0.8704. Population genetic analysis revealed that the Guizhou Tujia and Bai groups share closer genetic affinity with Southern Han than with Northern Han and cluster with Tibeto-Burman-speaking groups, including the Sichuan and Guizhou Yi populations. Similarly, the Y-STR haplogroup prediction results revealed a multilayered paternal structure dominated by haplogroup O2a2, accompanied by contributions from indigenous East Asian lineages and minor inputs from West Eurasia and other regions. CONCLUSIONS: Our study provides valuable Y-STR data and forensic parameters for Tibeto-Burman-speaking ethnic groups in China, as well as population genetics evidence in patrilineal history. The Tujia and Bai of Guizhou exhibit a complex paternal genetic structure, offering insights into the demographic dynamics of Southwest China. The 43 Y-marker system exhibits high polymorphism and strong discriminatory power, supporting its utility as a powerful supplementary tool for forensic investigations, particularly for male lineage inference and suspect screening.
Genetic Diversity of 27 Y-STRs in Two Jordanian Subpopulations: Bedouins and Fellahin
Open access
Genes · 2026 · 2 Citations · DOI
BACKGROUND/OBJECTIVES: The Bedouins (nomads) and the Fellahin (farmers) of Jordan represent two distinct subpopulations, characterized by unique lifestyles, settlement patterns, and linguistic features. This study aims to estimate the frequency of 27 Y-STRs in these two Jordanian subpopulations, along with various forensic parameters and paternal lineage comparisons with neighboring populations. METHODS: = 98). The forensic and paternal genetic lineage parameters and Y-haplogroup predictions were estimated. In addition, we conducted multidimensional scaling (MDS) and centroid analyses based on the Fst distance matrix to compare the sampled communities with neighboring populations from the MENA region, East Africa, Southeast Europe, and South Asia. RESULTS: The Y-haplogroup predictions revealed differences in the predicted lineage composition based on the Y-STR profiles. The predicted J1a2a1a2 haplogroup predominated among the Bedouins (74.3%), whereas the Fellahin displayed a more heterogeneous profile, with notable frequencies of J1 (40%) and J2 (17.3%). Furthermore, the Fellahin exhibited remarkable genetic diversity and significant gene flow, providing plausible evidence of kinship with neighboring Levantine and Arabian groups. In contrast, the Bedouins showed consistently lower diversity across multiple loci, indicating long-term tribal isolation and, therefore, the potential effects of genetic drift. The MDS and centroid analyses positioned the Fellahin among the genetically interconnected Middle Eastern populations, while the Bedouins were clustered with the Arabian Peninsula populations. CONCLUSIONS: Overall, the contrasting genetic signatures of the two Jordanian subpopulations reflect their settlement patterns and sociocultural practices. In addition, the Y-STR dataset generated in this study enhances the Jordanian forensic database and to extends our understanding of paternal lineage structures in the West Asian/Levantine region.
Genetic Demography of the Megalopolis Populations in the Union State of Russia and the Republic of Belarus
Russian Journal of Genetics · 2025 · 0 Citations · DOI
The article presents a review of the results from the study of genetic-demographic processes in the populations of three largest Russian megalopolises, Moscow, St. Petersburg, and Novosibirsk, and the capital of the Republic of Belarus, Minsk. The main genetic-demographic parameters of the megalopolis residents were calculated from survey and population censuses. Data on population migration and marriage structure parameters are provided. The results of the analysis of uneven ethnic group settlement and assessment of ethnic diversity, as well as sample maps reflecting ethnic topography of the megalopolis population are presented. In the male population of the studied megalopolis, Y-chromosome haplogroup distribution patterns in association with migration processes are revealed. The need to create genetic databases, as well as reference databases for the purposes of medical genetics and forensic science is substantiated, taking into account the complexity and dynamism of the megalopolis population structures under the influence of genetic-demographic processes.
An early East Asian lineage with unexpectedly low Denisovan ancestry
Open access
Current Biology · 2025 · 2 Citations · DOI
Denisovan ancestry in present-day humans is heterogeneously distributed and comes from genetically distinct Denisovan groups. Understanding the origin of this heterogeneity could provide insights into the early population history of modern humans in Eurasia. However, population movements and admixture after the initial dispersals of modern humans have obscured the origin of this heterogeneity. To address this, we investigated how Denisovan ancestry in early modern humans relates to that in present-day humans. We found that varying levels of Denisovan ancestry in Eurasians were shaped by admixture between diverse early modern human lineages. In particular, ancient Japanese individuals from the Jomon period have the least Denisovan ancestry among individuals from Eastern Eurasia, providing evidence for an ancient East Asian lineage with little to no Denisovan ancestry. By contrast, the earliest mainland East Asians harbor the most Denisovan ancestry in Eastern Eurasia, including ancestry from multiple divergent Denisovan groups, already before the last glacial maximum. Together with evidence of Denisovan ancestry sharing among ancient and present-day genomes, these patterns show how Denisovan ancestry in Eurasia spread through gene flow from early East Asians. Our study provides the first systematic investigation of Denisovan admixture across time and extends our understanding of human population history in Eurasia.
Mitochondrial genome polymorphism in the East Slavic population of Northeastern Siberia
Open access
Vavilov Journal of Genetics and Breeding · 2025 · 0 Citations · DOI
Data on mitochondrial DNA (mtDNA) polymorphism at the population level are of significant interest to researchers in the fields of population and ethnic genetics, forensic medicine, and forensic science. In the present study, we have obtained data on the variability of whole mitochondrial genomes in the immigrant East Slavic population of Northeastern Siberia (using the Magadan region as an example). The study yielded novel data concerning mtDNA variability in the Magadan region's inhabitants comprising maternal lineages of Russians (N = 49) and Ukrainians (N = 15), as well as individuals with a mixture of maternal and paternal ancestries, including Russians on the maternal side and indigenous populations (Koryaks, Evenes, and Itelmens) on the paternal side (N = 4). In addition, the mitogenomes of the Russian population from the Novgorod, Kaluga, and Yaroslavl regions (N = 15) were sequenced to enhance the power of the phylogeographic analysis. The results of the study demonstrated that the mitochondrial gene pool of the East Slavic immigrant population in the Magadan region is characterized by a high level of diversity. The analysis of genetic differentiation of Russian populations within Russia, as measured by the variability of complete mitochondrial genomes, revealed a low level of interpopulation differences (Fst = 0.15 %, P = 0.2). The results of multidimensional scaling of Fst distances indicate that the Russians residing in the Magadan region are genetically similar to the Russian populations inhabiting the southwestern part of the country, specifically the Belgorod and Orel regions. The gene pool of the Russian population in the Magadan region is predominantly characterized by mtDNA haplotypes of West Eurasian (including European) origin. The prevalence of East Asian-derived haplotypes among the Russian population is relatively low, accounting for approximately 4.8 % of the total. However, certain East Asian-specific haplogroups, such as F1b1 and Z1a1a, have demonstrated a prolonged presence in the gene pools of Eastern European populations, as evidenced by phylogeographic analysis. Among the European mtDNA haplotypes of Russians from the Magadan region, Eastern European variants predominate, and they also have a high proportion of mtDNA haplotypes specific to Slavs (19.4 %). Furthermore, rare mtDNA haplotypes have been identified in the mitochondrial gene pools of Russians and Ukrainians residing in the Magadan region. These rare haplotypes are linked to the maternal lines of Empress Alexandra Fedorovna Romanova (haplogroup H1af2) and Prince Dmitry, son of Prince Alexander Nevsky (haplogroup F1b1-a3a2a).
Genetic stability in the lower Yangtze River basin from Song to Qing Dynasty
Open access
BMC Biology · 2025 · 2 Citations · DOI
BACKGROUND: The lower Yangtze River basin holds a pivotal role in Chinese history. As previous genetic research in this region has primarily focused on modern population datasets, the limited availability of ancient human genomes has hindered our capacity to reconstruct detailed ancient population histories and evaluate the genetic impact of Yellow River-related groups. RESULTS: Here, we present the first set of ancient human genomes from the lower Yangtze River basin, comprising eight individuals from the Song to Qing Dynasties (960-1921 CE). We observed a high degree of genetic homogeneity in most samples, suggesting long-term regional genetic stability. Seven individuals were estimated to derive 69.3-100% of their ancestry from ancient Yellow River-related populations, while the remainder can be attributed to a southern East Asian substrate. Contemporary Han Chinese residing in the lower Yangtze basin can be modelled as direct genetic descendants of historical individuals from this area. Notably, one Qing Dynasty sample reveals a genetic link to the Eastern Mediterranean. CONCLUSIONS: Our findings illustrate enduring genetic continuity in the lower Yangtze River basin throughout historical times. These findings underscore the region's role as a genetic bridge between northern and southern East Asia, retaining local rice-farming ancestry while being shaped by southward expansions of Yellow River-related ancestry.
Genomic insights from a final Bronze Age community buried in a collective tumulus in an Urnfield settlement in Northeastern Iberia
Open access
Communications Biology · 2025 · 0 Citations · DOI
The transition from the Bronze Age (BA) to the Iron Age (IA) on the Northeastern Iberian Peninsula is characterized by the emergence of cremation as the main funerary practice. Cultural attributes of a group, known as the Urnfield Culture, expanded from Central Europe to Northeastern Iberia during the Final Bronze Age (FBA), from ~1300 to ~850 cal BCE. Various hypotheses on the group's emergence exist, but cremations hinder DNA preservation. Here, we present genome-wide data from 24 inhumed individuals from a collective burial mound at the site of Los Castellets II (Spain), where inhumations and cremations co-occurred during the FBA, and one Early Iron Age (EIA) individual from Los Piojos (Spain). The results show that two source populations are required to explain the ancestry at Los Castellets II: one enriched in steppe-related ancestry and distantly related to Central European BA populations, and a second source similar to local Southeastern Iberian BA. Additionally, two-thirds of the individuals from the same collective tumulus were closely biologically related from 1st to >6th degree, with a man having the highest number of genetic relatives. We detected signs of inbreeding within the family group, all together suggesting the tumulus was used as a family mausoleum.
Candidate Denisovan fossils identified through gene regulatory phenotyping
Open access
Proceedings of the National Academy of Sciences · 2025 · 5 Citations · DOI
Denisovans are an extinct group of humans whose morphology is mostly unknown. The scarcity of verified Denisovan fossils makes it challenging to study their anatomy, and how well they were adapted to their environment. We previously developed a genetic phenotyping approach to gain insight into Denisovan anatomy by detecting gene regulatory changes that likely altered Denisovan skeletal morphology. Here, we scan the Middle Pleistocene fossil record for crania matching the predicted Denisovan morphology and might therefore be related to Denisovans. We developed quantitative measures to assess both the proportion and extent of matches. These analyses revealed that the East Asian specimens of Harbin and Dali show an exceptionally high concordance with the Denisovan profile, surpassing all other examined Middle Pleistocene hominin specimens, including Neanderthals. Specifically, 15 out of 18 of Dali ’s features and 16 out of 18 of Harbin ’s matched Denisovan predictions. These findings are robust to overall skull size and to correlations between phenotypes. We also found that Kabwe 1 shows a strong affinity to the Denisovan–Neanderthal clade and might be placed near its root. Our results show that gene regulatory phenotyping may assist in classifying poorly understood specimens.
Modeling the European Neolithic expansion suggests predominant within-group mating and limited cultural transmission
Open access
Nature Communications · 2025 · 4 Citations · DOI
The Neolithic Revolution initiated a pivotal change in human society, marking the shift from foraging to farming. Historically, the underlying mechanisms of agricultural expansion have been a topic of debate, centered around two primary models: cultural diffusion, involving the transfer of knowledge and practices, and demic diffusion, characterized by the migration and replacement of populations. More recently, ancient DNA analyses have revealed significant ancestry changes during Europe's Neolithic transition, suggesting a primarily demic expansion. Nonetheless, the presence of 10-15% hunter-gatherer ancestry in modern Europeans indicates cultural transmission and between-group mating were additional contributing factors. Here, we integrate mathematical models, agent-based simulations, and ancient DNA analysis to dissect and quantify the roles of cultural diffusion and between-group mating in farming's expansion. Our findings indicate limited cultural transmission and predominantly within-group mating. Additionally, we challenge the assumption that demic expansion always leads to ancestry turnover. These results offer insights into early agricultural society through the integration of ancient DNA with archaeological models.
The Genetic Structure of Cape Verdean Population Revealed by Y-Chromosome STRs
Open access
Genes · 2025 · 0 Citations · DOI
Background/Objectives: Y-chromosomal short tandem repeats (Y-STR) are genetic markers widely used in forensic and population genetics. However, despite their importance, many populations remain under-represented in published studies and genetic databases. One such population is the Cape Verdean, which, despite its unique history of admixture between European and sub-Saharan African populations, continues to be under-represented in global Y-STR reference databases. This study aims to characterize the Y-STR haplotype diversity and paternal lineage composition of the Cape Verdean population using a high-resolution STR panel. Methods: A total of 143 unrelated Cape Verdean men were analyzed using a set of 26 Y-STR loci, including rapidly mutating markers. Allele and haplotype frequencies were calculated, along with standard forensic parameters such as gene and haplotype diversity. Paternal lineages were inferred, and genetic relationships with other populations were evaluated using distance-based and graphical methods. Results: A total of 135 haplotypes were detected, with 88.8% being unique, yielding a haplotype diversity of 0.999. The most common haplogroups reflected both West African and European ancestry. Genetic distance analysis positioned the Cape Verdean population between African and European groups, supporting its intermediate and admixed genetic background. Conclusions: This study provides the first high-resolution Y-STR dataset for Cape Verdeans, contributing valuable reference data for forensic casework and population genetic studies. The results highlight the utility of extended Y-STR panels in admixed populations and underscore the need to enhance the representation of admixed populations in international forensic reference databases.
Faroese whole genomes provide insight into ancestry and recent selection
Open access
eLife · 2025 · 0 Citations · DOI
The Faroe Islands are home to descendants of a North Atlantic founder population with a unique history shaped by both migration and periods of relative isolation. Here, we investigate the genetic diversity, population structure, and demographic history of the islands by analyzing whole genome sequencing data from 40 participants in the Faroe Genome Project. This represents the first whole genome sequencing panel of this size from the Faroe Islands. We observed numerous putatively functional private alleles, including stop gain variants and high impact missense variants in the cohort. Faroese individuals had a higher proportion of their genomes contained in long runs of homozygosity than other European groups, including Finnish, suggesting a more recent or stronger bottleneck in the Faroese population. Signals of positive selection were identified at loci containing genes that play roles in vitamin D and dietary fat absorption and DNA repair, while increased diversity on lactase persistence haplotypes was observed. Fine-scale analysis of haplotype structure in present-day and ancient European genomes revealed genetic affinities with ancient Iron Age individuals from the North and West of Europe, providing evidence for potential contributions to the Faroese gene pool from Celtic and Viking populations as well as information about the temporal order in which these events happened. This study highlights the impact of evolutionary processes, such as ancient admixture, founder events, and positive selection, on the present-day genetic architecture of North Atlantic founder populations like the Faroe Islands.
Middle and early Upper Paleolithic settlement of the Georgian caucasus: A general perspective
Open access
Quaternary Science Reviews · 2025 · 2 Citations · DOI

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