Several millennia of human-mediated translocation of non-native pig species (genus Sus) to the islands of Wallacea and Oceania have considerably altered local ecosystems. To investigate the timing and trajectory of these introductions, we conducted both genomic analyses of 576 pig nuclear genomes and a geometric morphometric analysis of 708 modern and ancient dental remains. Our analyses demonstrate that free-living and domestic pigs in Wallacea and Oceania have diverse ancestries resulting from the introduction of multiple sequential pig populations followed by gene flow. Despite the variability in their genomic ancestry, these pigs all have a distinct tooth morphology as well as a genetic link to the Chinese domestic pig populations that accompanied the dispersal of Austronesian language speakers ~4000 to 3000 years ago via Taiwan and the Philippines.
Archaeological evidence from the last 8,000 years indicates that early African food-producing societies relied predominantly on livestock, particularly cattle, rather than crops. Cattle have since remained central to economies ranging from sedentary farming to mobile pastoralism across diverse ecosystems. The widespread use and persistence of cattle across Africa likely reflects their admixed ancestry, combining African taurine (Bos taurus), indicine (Bos indicus), and European taurine lineages, which were introduced at different times over the last ~8,000 years. To determine how varied human livelihood patterns and environmental factors affected the geographic distribution of these ancestries, we generated whole-genome sequences from 1,392 African cattle within a combined dataset of ~4,900 genomes, including two ancient genomes, one from Great Zimbabwe (~750 years old) and one from the Western Cape (~280 years old). Using local ancestry inference, we show that taurine and indicine lineages, despite co-existing in the same genomes for over a millennium, have followed markedly different trajectories: taurine ancestry is strongly structured geographically, maintained by sedentary communities under local selection; indicine ancestry is poorly geographically structured which likely reflects dispersal through pastoralist movement; and European taurine heritage is highly localised in South Africa where it is associated with strong selection for beef cattle. Together, these results reframe African cattle as carriers of co-resident lineages, each preserving a distinct record of human subsistence strategy, ecological constraint, and adaptive evolution.
Abstract The timing and causes of brain size reduction in domestic dogs remain uncertain. Using endocast volume as a proxy for brain size, this study provides a first insight into long-term brain size evolution in the wolf-dog lineage. We compared endocranial volumes of 185 modern and 22 prehistoric wolves and dogs ranging from Western Europe to Australia, and spanning the Pleniglacial (35 000 yr BP) to the Late Neolithic (5000 yr BP). Our results reveal that Pleistocene so-called ‘protodogs’ show no brain size reduction compared with coeval Pleistocene wolves. Instead, we observed a slightly larger relative endocranial volume in the 35 000-year-old 'protodog' from Goyet, which could suggest increased behavioural flexibility in the presence of humans. In contrast, Late Neolithic dogs show a drastic brain size reduction (46%) with endocranial volumes comparable to modern small terrier and toy breeds. We speculate that the anxious and wary temperaments of these Late Neolithic dogs, induced by the brain tissue reorganization associated with such a size reduction, could have served an alerting purpose, among the many other potential roles dogs could have played within these Late Neolithic socio-ecosystems.
Cattle are integral to global food security, yet the molecular architecture of their complex traits remains poorly understood. Here, we present the Cattle Genotype–Tissue Expression (CattleG-TEx) Phase 1 resource (https://cattlegtex.farmgtex.org/), a substantial expansion of the pilot study. By leveraging 12,422 RNA-seq profiles across 43 tissues and 82 breeds, we characterized 433,972 primary and 161,428 non-primary regulatory effects spanning seven molecular phenotypes. This high-resolution atlas resolves 75% of GWAS signals for 44 complex traits, significantly addressing the "missing regulation" in livestock. We propose a genetic regulatory model demonstrating how variants across multiple biological layers interact with specific biological contexts to shape pheno-typic variation. Furthermore, CattleGTEx elucidates mechanisms underlying adaptive evolution between Bos taurus and Bos indicus, as well as artificial selection in dairy and beef breeds. Finally, by mapping evolutionary constraints on these regulatory effects, we demonstrate the translational value of this resource for prioritizing causal variants in human complex diseases. Together, Phase 1 of CattleGTEx provides a transformative framework for functional genomics, precision breeding, and comparative genetics.
The earliest morphologically identifiable dogs are from Europe and date to at least 14,000 years ago1-5, although early remains are also found in other regions. The origin of early dogs in Europe, and their relationships to other dogs, has remained elusive in the absence of genome-wide data. Similarly, although dogs were the only domestic animal to predate agriculture, little is known about how the arrival of Neolithic farmers from Southwest Asia affected the dogs living with European Mesolithic hunter-gatherers. Here we analysed 216 canid remains, including 181 from Palaeolithic and Mesolithic Europe. We developed a genome-wide capture approach that enriched endogenous DNA by 10-100-fold and could distinguish dog from wolf ancestry for 141 of 216 remains. The oldest dog data that we recovered are from a 14,200-year-old dog from the Kesslerloch site in Switzerland, and we find that it shares ancestry with later worldwide dogs-inconsistent with the hypothesis that European Upper Palaeolithic dogs derived wholly from a separate domestication process. The Kesslerloch dog already displays more affinity to Mesolithic, Neolithic and present-day European dogs than to Asian dogs, demonstrating that dog genetic diversification had started well before 14,200 years ago. We find a Neolithic influx of Southwest Asian ancestry into Europe, but this seems to have been of smaller magnitude than in humans, suggesting that Mesolithic dogs contributed substantially to Neolithic, and, ultimately, probably also modern, European dogs.
The Eurasian cave lion was abundant across the Northern Hemisphere before the Late Pleistocene megafaunal extinctions. However, the extent of the distinction between cave and modern lions and their adaptive differences have remained unclear. Using 12 cave lion genomes spanning more than 100,000 years, we show that modern and cave lions were distinct evolutionary lineages with separate demographic histories and unique non-synonymous variants. We also identify evidence of ancient gene flow between them, with the best modern lion proxy for this ancestry being an extinct Southwest Asian population. This admixture correlates with global ice extent, with 3.2%-4.4% modern lion ancestry detected in a ∼20,000-year-old cave lion from Central East Asia. These findings provide insight into the evolutionary history of the cave lion, once one of the Northern Hemisphere's most ecologically impactful megafaunal species.
Coprolites offer rich potential for palaeodietary studies as snapshots of past dietary behaviour and environment. They require adapted laboratory methods to retrieve the DNA of the depositor, its microbiome, diet and environmental taxa. Here we compare the performance of three common ancient DNA (aDNA) extraction methods to recover metagenomes from coprolites of Darwin’s ground sloth Mylodon darwinii from Cueva del Milodón (Chile). The Qiagen PowerSoil Kit outperformed the other two methods in terms of DNA recovery and library complexity, but the communities inferred from the DNA extracted by the three methods were similar. We were able to recover signatures of local Patagonian flora, as well as sloth mitochondrial genomes, confirming the taxonomic identity of the coprolite depositors.
The chicken is a valuable model for understanding fundamental biology and vertebrate evolution and is a major global source of nutrient-dense and lean protein. Despite being the first non-mammalian amniote to have its genome sequenced, a systematic characterization of functional variation on the chicken genome remains lacking. Here, we integrated bulk RNA sequencing (RNA-seq) data from 7,015 samples, single-cell RNA-seq data from 127,598 cells and 2,869 whole-genome sequences to present a pilot atlas of regulatory variants across 28 chicken tissues. This atlas reveals millions of regulatory effects on primary expression (protein-coding genes, long non-coding RNA and exons) and post-transcriptional modifications (alternative splicing and 3'-untranslated region alternative polyadenylation). We highlighted distinct molecular mechanisms underlying these regulatory variants, their context-dependent behavior and their utility in interpreting genome-wide associations for 39 chicken complex traits. Finally, our comparative analyses of gene regulation between chickens and mammals demonstrate how this resource can facilitate cross-species gene mapping of complex traits.
Archaeological and palaeogenomic data show that dogs were the only domestic animals introduced during the early peopling of the Americas. Hunter-gatherer groups spread quickly towards the south of the continent, but it is unclear when dogs reached Central and South America. To address this issue, we generated and analysed 70 complete mitochondrial genomes from archaeological and modern dogs ranging from Central Mexico to Central Chile and Argentina, revealing the dynamics of dog populations. Our results demonstrate that pre-contact Central and South American dogs are all assigned to a specific clade that diverged after dogs entered North America. Specifically, the divergence time between North, Central and South American dog clades is consistent with the spread of agriculture and the adoption of maize in South America between 7000 and 5000 years ago. An isolation-by-distance best characterizes how dogs expanded into South America. We identify the arrival of new lineages of dogs in post-contact South America, likely of European origin, and their legacy in modern village dogs. Interestingly, the pre-contact Mesoamerican maternal origin of the Chihuahua has persisted in some modern individuals.
Genetic mutation and drift, coupled with natural and human-mediated selection and migration, have produced a wide variety of genotypes and phenotypes in farmed animals. We here introduce the Farm Animal Genotype-Tissue Expression (FarmGTEx) Project, which aims to elucidate the genetic determinants of gene expression across 16 terrestrial and aquatic domestic species under diverse biological and environmental contexts. For each species, we aim to collect multiomics data, particularly genomics and transcriptomics, from 50 tissues of 1,000 healthy adults and 200 additional animals representing a specific context. This Perspective provides an overview of the priorities of FarmGTEx and advocates for coordinated strategies of data analysis and resource-sharing initiatives. FarmGTEx aims to serve as a platform for investigating context-specific regulatory effects, which will deepen our understanding of molecular mechanisms underlying complex phenotypes. The knowledge and insights provided by FarmGTEx will contribute to improving sustainable agriculture-based food systems, comparative biology and eventual human biomedicine.
The earliest cats in human settlements in China were not domestic cats (Felis catus), but native leopard cats (Prionailurus bengalensis). To trace when and how domestic cats arrived in East Asia, we analyzed 22 feline bones from 14 sites across China spanning 5,000 years. Nuclear and mitochondrial genomes revealed that leopard cats began occupying anthropogenic scenes around 5,400 years ago and last appeared in 150 CE. Following several centuries' gap of archeological feline remains, the first known domestic cat (706 to 883 CE) in China was identified in Shaanxi during the Tang Dynasty. Genomic analysis suggested a white or partially white coat and a link to a contemporaneous domestic cat from Kazakhstan, indicating a likely dispersal route via the Silk Road. The two felids once independently occupied ancient anthropogenic environments in China but followed divergent paths and reached different destinations in human-animal interactions. ### Competing Interest Statement The authors have declared no competing interest.
In the last three decades, DNA sequencing of ancient animal osteological assemblages has become an important tool complementing standard archaeozoological approaches to reconstruct the history of animal domestication. However, osteological assemblages of key archaeological contexts are not always available or do not necessarily preserve enough ancient DNA for a cost-effective genetic analysis. Here, we develop an in-solution target-enrichment approach, based on 80-mer species-specific RNA probes (ranging from 306 to 1686 per species) to characterise (in single experiments) the mitochondrial genetic variation from eight domesticated animal species of major economic interest: cattle, chickens, dogs, donkeys, goats, horses, pigs and sheep. We also illustrate how our design can be adapted to enrich DNA library content and map the Y-chromosomal diversity within Equus caballus. By applying our target-enrichment assay to an extensive panel of ancient osteological remains, farm soil, and cave sediments spanning the last 43 kyrs, we demonstrate that minimal sequencing efforts are necessary to exhaust the DNA library complexity and to characterise mitogenomes to an average depth-of-coverage of 19.4 to 2003.7-fold. Our assay further retrieved horse mitogenome and Y-chromosome data from Late Pleistocene coprolites, as well as bona fide mitochondrial sequences from species that were not part of the probe design, such as bison and cave hyena. Our methodology will prove especially useful to minimise costs related to the genetic analyses of maternal and paternal lineages of a wide range of domesticated and wild animal species, and for mapping their diversity changes over space and time, including from environmental samples.
The increased availability of ancient nuclear genomes has helped to illuminate the complexity of genetic evolution and overcome the difficulties inherent in inferring the past from the present. This "nuclear revolution" has challenged and overturned long-held assumptions about the domestication process by demonstrating that many key domestic traits were not under selection in the early stages of management, and that reproductive isolation is not necessary to maintain domestic phenotypes.
The timing and causes of brain size reduction in domestic dogs remain uncertain. Using endocasts volume as a proxy for brain size, this study provides a first insight into long-term brain size evolution in the wolf-dog lineage. We compared endocranial volumes of 185 modern and 22 prehistoric wolves and dogs ranging from Western Europe to Australia, and spanning the Pleniglacial (35 Ky BP) to the Late Neolithic (5 Ky BP). Our results reveal that Pleistocene so called protodogs show no brain size reduction compared to coeval Pleistocene wolves. Instead, we observed a slightly larger relative endocranial volume in the 35,000-year-old specimen from Goyet, which could suggest increased behavioural flexibility in the presence of humans. This hypothesis needs to be tested further. In contrast, Late Neolithic dogs show a drastic 46% brain size reduction with an endocranial volumes comparable to modern small terrier and toy breeds. The anxious and wary temperaments of these Late Neolithic dogs, induced by the brain tissue reorganization associated with such a size reduction, could have served an alerting purpose, among the many other potential roles dogs could have played within this Late Neolithic socio-ecosystems. ### Competing Interest Statement The authors have declared no competing interest. This project has received financial support from the CNRS through the MITI interdisciplinary programs DIM PAMIR -, IDF-DIM-PAMIR-2024-4-023 the Australian Research Council Discovery Grant, DP210101960
Island populations of large vertebrates have experienced higher extinction rates than mainland populations over long timescales due to demographic stochasticity, genetic drift, and inbreeding. While being more susceptible to extinction and as such potentially targeted for conservation interventions such as genetic rescue, small-island populations can experience relatively less anthropogenic habitat degradation than those on larger islands. Here, we determine the consequences and conservation implications of long-term isolation and recent human activities on genetic diversity of island populations of two forest-dependent mammals endemic to the Wallacea archipelago: the anoa (Bubalus spp.) and babirusa (Babyrousa spp.). Using genomic analyses and habitat suitability models, we show that, compared to closely related species, populations on mainland Sulawesi exhibit low heterozygosity, high inbreeding, a high proportion of deleterious alleles, and experience a high rate of anthropogenic disturbance. In contrast, populations on smaller islands occupy higher-quality habitats, possess fewer deleterious mutations despite exhibiting lower heterozygosity and higher inbreeding. Site frequency spectra indicate that these patterns reflect stronger, long-term purging in smaller-island populations. Our results thus suggest that conservation efforts should focus on protecting small-island high-quality habitats and avoiding translocations from mainland populations. This study highlights the crucial role of small offshore islands for the long-term survival of Wallacea's iconic and indigenous mammals in the face of development on the mainland.
Genetic diversity is a crucial resource in livestock, determining their traits and ability to respond to selection. Indonesian cattle are unique due to their history of admixture involving both zebu (Bos indicus) and banteng (B. javanicus), and may therefore contain novel cattle genetic resources. We generated whole genome sequences from 126 Indonesian cattle, 51 domesticated banteng and three captive banteng. We show that Indonesian cattle have very high genetic diversity, especially the Madura breed due to introgression from banteng and possibly other Bos species, contributing up to 36.6% of the Madura's genome. We find that Indonesian zebu ancestry can be traced to at least three distinct ancestral populations, two of which were introduced more than 1345 years ago from mainland Southeast or eastern Asia. Peaks and valleys in banteng ancestry across the genome in admixed breeds suggest that both negative and positive selection act on introgressed haplotypes. Despite adaptive introgression being mainly breed-specific, we found evidence that some phenotypes, such as coat color, have experienced convergent adaptive introgression. Overall, our results provide insights into the historical movement of cattle in Asia, and showcase the potential for genetic improvement of cattle by identifying ~3.5 million novel SNPs introgressed into Indonesian cattle.
Dogs exhibit an exceptional range of morphological diversity as a result of their long-term association with humans. Attempts to identify when dog morphological variation began to expand have been constrained by the limited number of Pleistocene specimens, the fragmentary nature of remains, and difficulties in distinguishing early dogs from wolves on the basis of skeletal morphology. In this study, we used three-dimensional geometric morphometrics to analyze the size and shape of 643 canid crania spanning the past 50,000 years. Our analyses show that a distinctive dog morphology first appeared at about 11,000 calibrated years before present, and substantial phenotypic diversity already existed in early Holocene dogs. Thus, this variation emerged many millennia before the intense human-mediated selection shaping modern dog breeds beginning in the 19th century.
The domestic cat (Felis catus) descends from the African wildcat subspecies Felis lybica lybica. Its global distribution alongside humans testifies to its successful adaptation to anthropogenic environments. Uncertainty remains regarding whether domestic cats originated in the Levant, Egypt or elsewhere in its natural range, and on the timing and circumstances of their dispersal into Europe. By analysing 87 ancient and modern cat genomes, we demonstrate that domestic cats did not spread to Europe with Neolithic farmers, as previously thought. Conversely, our results suggest that they were introduced to Europe over the last 2,000 years, most likely from North Africa. We also demonstrate that a separate earlier (1st millennium BCE) introduction of wildcats from Northwest Africa originated the present-day wild population in Sardinia. ### Competing Interest Statement The authors have declared no competing interest.