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Genomics and social practices at Mogou and other Gansu sites during prehistoric trans-Eurasian exchange.

Beginning approximately 4,000 years ago, southwest-Asian-originating domesticated crops and livestock began appearing in Gansu, a key crossroads in northwestern China, yet the population dynamics and social practices underlying these historically transformative events in the region have not been fully explored. Despite the adoption of western domesticates, genome sequences of 149 individuals from the large Mogou cemetery and ten other sites in Gansu, dating between 4,700 and 3,000 years ago, revealed migrations within East Asian regions but no detectable evidence of genetic influence from western or central Eurasia, suggesting that early agricultural dispersals may have followed a model distinct from that documented in Europe and Central Asia. The Mogou cemetery represents a continuous community that interacted with surrounding regions but does not exhibit clear matrilocal or patrilocal residential patterns. We found no strong evidence that co-buried individuals represented biological relatives. Non-local ancestry appears to be linked to lower-status burial practices.

Humans

The Sociogenomics of Social Stratification and General Theories of Inequality.

The field of the sociogenomics of inequalities would benefit from discussing what its findings and ambitions mean for core theories of social stratification and mobility. Do sociologists need to reconsider their critique to structural-functionalist theory of stratification, and its neo-classical economic allies, that emphasise efficient sorting of individuals to social positions? Or do their interpretations of genetic correlates of inequality need to include reference to constructivist processes that have defined the genetic mix that has come to be rewarded in a society? I argue that, with the current sociogenomics methods, it is hard to disentangle these theories, which are however fundamentally different regarding the nature and structure of social stratification. Using simulations that distinguish context-dependent from context-independent genetic variability, it is shown that the field always needs to make untestable assumptions about the nature of genetic differences.

Humans

A Qualitative Study of the Roles and Responsibilities of Academic and Journalistic Publishing in Social and Behavioral Genomics.

The conduct and translation of scientific research is shaped by academic and journalistic publishing. Academic journals issue editorial guidelines and policies that inform how researchers shape and present their studies. Journalists select and report on academic studies for public audiences. Despite the potential importance of journal editors and journalists in the scientific process, little has been done to examine how these groups think about their roles and responsibilities-especially when it comes to ethically sensitive scientific domains like social and behavioral genomics (SBG): the study of whether and how genetic differences between individuals correlate with differences in behaviors such as aggression and outcomes such as educational attainment. To begin filling this gap, we conducted semi-structured interviews with editors working at academic journals that publish SBG research (n = 10) and journalists who have reported on SBG studies (n = 13). Journal editors largely saw themselves as mediators between authors and peer reviewers who help to shepherd along research. Journalists frequently described themselves as translators of science for wide audiences; at times they also saw themselves as interrogators of science. While both groups considered SBG especially ethically sensitive and prone to risks such as misinterpretation, many expressed that systematic ethical review processes and guidelines for SBG are lacking. Further, many deferred the ethical responsibility to minimize risks associated with SBG to others. Our findings highlight the need for more explicit frameworks in academic and journalistic publishing to support the ethically responsible conduct and communication of SBG.

ELSI

"It just feels morally not right to Sell the data": Ethical and social perspectives on human genomic data sharing in Uganda-A phenomenological qualitative study.

While genomic data sharing enhances transparency and research efficiency, it also raises significant ethical and social challenges. This study explored stakeholders' perspectives on these issues, particularly around privacy, confidentiality, and equity in collaborative research. A phenomenological qualitative study was conducted between August and December 2023 at Makerere University College of Health Sciences, other research-intensive institutions, and national regulatory bodies. The study engaged 86 participants: 47 key informants (16 researchers, 14 ethics committee members, nine community advisory board members, and eight research regulators) and four deliberative focus group discussions with 39 participants. Interviews were transcribed verbatim, and thematic analysis was conducted using NVivo 14. Three major themes emerged: (1) stakeholders' experiences in genomic research, including their roles as participants, implementers, or overseers; (2) ethical concerns, such as informed consent, third-party data access, inequities between high-income and low- and middle-income country (LMIC) researchers and participants, and the lack of benefit-sharing frameworks; and (3) social implications, including stigma, discrimination, labeling, community perceptions of fairness, and the need for meaningful engagement. Participants emphasized the importance of protecting participant rights, promoting equity, and ensuring robust data governance and security. The theoretical frameworks of principlism and distributive justice provided a valuable lens for examining these concerns, particularly by highlighting the need to safeguard privacy and fairly distribute responsibilities and benefits in global collaborations. Participants also noted that perceptions of fairness are shaped by trust, local context, and past experiences with research factors that are critical for building equitable and respectful partnerships. This study underscores the urgent need to strengthen protections for research participants and promote fairness in genomic data sharing. Policies should, if adopted, emphasize culturally contextualized consent, active community engagement, restricted third-party data access, and strong data protection mechanisms to address existing inequities and prevent misuse.

LMICs

Discrimination and dendritic cell abundance among older adults in the health and retirement study.

We investigated whether peripheral blood dendritic cell (DC) abundance varies as a function of discrimination exposure in a national sample of older US adults (aged 50 + years) from the 2016 Venous Blood Study, a US Health and Retirement Study biomarker project. Density of myeloid DCs (mDC) and plasmacytoid DCs (pDC) were measured using multiparameter flow cytometry. Discrimination was assessed using the validated Everyday Discrimination Scale. Weighted linear regression models quantified associations between discrimination and natural-log transformed DC abundance, controlling for sociodemographic factors, chronic health conditions, and health behaviors. We tested whether these associations varied by race/ethnicity. For mDC, we found no significant overall association with discrimination. However, race/ethnicity significantly modified this relationship: among non-Hispanic White participants, a 1-SD increase in discrimination was associated with a non-significant 1.4 % increase in mDC count (p = 0.20), while non-Hispanic Black participants showed a significant 4.6 % decrease (interaction p = 0.021). For pDC, a 1-SD change in discrimination was significantly associated with a 2.4 % increase in abundance across all participants (95 % CI: 0.6 %, 4.3 %, p = 0.010), with no significant effect modification by race/ethnicity. In this nationally representative study of older Americans, discrimination exposure was associated with altered dendritic cell abundance, with distinct patterns by cell type and race/ethnicity. Increased pDC counts across all racial/ethnic groups suggest a common immunological response to discrimination, while divergent mDC responses between non-Hispanic Black and White participants indicate race-specific immune modulation. These findings reveal complex cellular pathways through which discrimination may differentially influence immune function and contribute to health inequities.

Aged

Synaptic Proteome Divergence in the Prefrontal Cortex of Tame and Aggressive Red Foxes (Vulpes vulpes).

The biological mechanisms behind aggressive and affiliative behaviors are difficult to pinpoint. In the Farm-Fox Experiment, conventional foxes were selectively bred since 1959 in two different directions, one for tame and another for aggressive response to humans. The distinct differences in social behavior of tame, aggressive, and conventional populations are genetically based and the three populations live in conditions that control for factors that could impact social reactions, such as environment and social experiences. Genomic and transcriptomic studies of genetic differences among the fox populations have highlighted genes involved in synaptic processes in the prefrontal cortex. To investigate how the synaptic mechanisms differ between the three fox populations, synaptosomes were isolated from prefrontal and premotor cortex extracts of sixteen female foxes. Tandem mass tags with liquid chromatography tandem mass spectrometry (LC-MS) were used to identify and quantify the relative abundance of the proteins. The results were sorted into protein groups and compared between populations using a limma analysis to determine proteins with differential expression (DE). In the tame versus aggressive comparison, 174 protein groups were found to be DE, while only five were found in the conventional versus aggressive comparison. Most DE protein groups had lower fold expression in the aggressive population compared to tame and aggressive populations. ADGRB2 was found to be the most DE protein group, with 11-fold higher expression in aggressive foxes than in tame foxes. ADGRB2 was previously shown to affect depression-like behavior in mice and is involved in the vascular endothelial growth factor signaling pathway, that is known to influence neurogenesis. Enrichment analyses on the DE protein groups found gene ontology (GO) terms and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways that were enriched in the tame versus aggressive comparison, including multiple, highly enriched terms involving ribosome and translation. Local translation at synapses plays an important role in synaptic plasticity and, as a result, can profoundly influence behavior. This study highlighted potential mechanisms that could underly the behavioral differences between tame and aggressive foxes.

Journal Article

Intersectionality in a sociogenomic world: How do race, disability, socioeconomic status, and polygenic prediction interact to affect perceptions of educational trajectories?

PURPOSE: Education is important for lifelong skills and economic growth; however, student placement decisions may be shaped by social biases. As genomic information captured via polygenic scores becomes more available, it may also inform student placement decisions. We assessed the intersectional effects of polygenic scores, race, disability, and socioeconomic status on US adults' views of educational trajectories using an online experimental survey design. METHODS: A total of 1367 US adults were randomized to one of 16 conditions and prompted to read a short vignette about a boy named Michael, also depicted in an image. Each condition varied Michael's race (Black/White), disability (wheelchair user/no), socioeconomic status (high/low), and polygenic score (high/low) for educational attainment (EA-PGS). After reading the vignette, the respondents were asked to answer multichoice questions about Michael's immediate and long-term educational trajectories. RESULTS: Variation in Michael's EA-PGS strongly influenced participants' expectations regarding (1) the most appropriate immediate educational program for Michael (ie, general, special, or gifted education), (2) whether he would graduate high school, and, if so, (3) the highest educational degree he would complete in his lifetime (associate, bachelor, master, or PhD). Across these responses, high EA-PGS was associated with more socially desirable outcomes, whereas the opposite was true for low EA-PGS. Depicting Michael in a wheelchair significantly influenced respondents' expectations that his most appropriate immediate educational trajectory would be special. There were significant interactions between Michael's race, disability, socioeconomic status, and the EA-PGS. CONCLUSION: Information about children's EA-PGS may affect their views about their immediate and long-term educational trajectories. The negative effects of low EA-PGS were comparable to those of high EA-PGS. The EA-PGS may be interpreted in ways that compound the existing stereotypes related to a child's race, disability, and socioeconomic status.

Humans

The Fire Ant Social Chromosome Exerts a Major Influence on Genome Regulation.

Supergenes underlying complex trait polymorphisms ensure that sets of coadapted alleles remain genetically linked. Despite their prevalence in nature, the mechanisms of supergene effects on genome regulation are poorly understood. In the fire ant Solenopsis invicta, a supergene containing over 500 individual genes influences trait variation in multiple castes to collectively underpin a colony level social polymorphism. Here, we present results of an integrative investigation of supergene effects on gene regulation. We present analyses of ATAC-seq data to investigate variation in chromatin accessibility by supergene genotype and STARR-seq data to characterize enhancer activity by supergene haplotype. Integration with gene co-expression analyses, newly mapped intact transposable elements (TEs), and previously identified copy number variants (CNVs) collectively reveals widespread effects of the supergene on chromatin structure, gene transcription, and regulatory element activity, with a genome-wide bias for open chromatin and increased expression in the presence of the derived supergene haplotype, particularly in regions that harbor intact TEs. Integrated consideration of CNVs and regulatory element divergence suggests each evolved in concert to shape the expression of supergene encoded factors, including several transcription factors that may directly contribute to the trans-regulatory footprint of a heteromorphic social chromosome. Overall, we show how genome structure in the form of a supergene has wide-reaching effects on gene regulation and gene expression.

Animals

Social disconnection integrates genetic and proteomic risks in suicidal ideation and depression.

Suicidal ideation (SI) and major depressive disorder (MDD) are complex psychiatric conditions arising from the interplay of genetic liability, molecular processes, and psychosocial factors. While these dimensions have been extensively studied in isolation, their joint contribution to SI and MDD remains unclear. This study integrates multi-modal data to elucidate these synergistic effects and develop robust models for individual-level risk stratification. Leveraging longitudinal multi-modal data from 13,085 UK Biobank participants, we integrated genomic, proteomic, and social connection profiles. We developed interpretable risk scores using a rigorous supervised machine learning framework encompassing diverse linear and ensemble classifiers. Permutation importance was employed to quantify feature contributions and derive transparent, weighted risk metrics across diverse classifiers. These scores were validated through association, interaction, and mediation analyses. Social connection-based risk scores significantly differentiated cases and controls across the two suicidal ideation phenotypes at 2017 and 2023 with cross-sectional analyses (AUCs: 0.70 - 0.73), outperforming proteomic-only models. Functional dimensions of social connection emerged as the most informative predictors. Longitudinal analyses revealed that social risk scores at baseline predicted suicidal ideation onset six years later, independent of demographic covariates. Interaction analyses demonstrated that polygenic risk for suicide attempt significantly interacted with both social and proteomic risk features in relation to depression. Structural equation models further confirmed that social disconnection acts as a key mediator linking genetic predisposition to MDD and SI. Social disconnection is a critical risk factor mediating the impact of genetic vulnerability on psychiatric outcomes. Integrating social, genetic, and molecular data supports a multilevel framework for risk stratification and highlights the potential of socially oriented interventions to mitigate biological risk.

Humans

Exploring the genetics of social behaviour in C. calcarata.

Studies investigating social evolution often focus on species that are obligately eusocial, where presumably all of the adaptive genetic changes associated with sociality have already been completed. To fully understand eusociality, we must study species with facultative social behaviour. The small carpenter bee Ceratina calcarata is an ideal model for studying the genetics and molecular biology of eusocial evolution as it can exhibit both subsocial behaviour with parental care and social behaviour facilitated by the altruistic dwarf eldest daughter. Here, we sequenced the genomes of subsocial and social C. calcarata to identify mutations and genes associated with social behaviour and used these data to test several hypotheses related to the evolution of eusociality. Many single nucleotide polymorphisms that had high levels of genetic differentiation (Fst) between social and subsocial C. calcarata were in or near genes or regions important for regulating gene expression. These results are consistent with the Genetic Toolkit Hypothesis of eusocial evolution. Our findings suggest that the low behavioural complexity observed in C. calcarata may involve modulation of existing regulatory genes and gene networks to generate phenotypes associated with social behaviour.

Animals

Oncology nurses' readiness to implement genomics-informed care: A descriptive, cross-sectional study in a Canadian province.

INTRODUCTION: Cancer care providers need to be equipped to support cancer care recipients in evolving care contexts. Genomics is an increasingly common component of cancer care. There is limited understanding of Canadian oncology nurses' readiness to contribute to genomics-informed cancer care. PURPOSE: To describe factors influencing oncology nurses' implementation of genomics in practice in Newfoundland and Labrador (NL; i.e., knowledge, attitudes, confidence, current practices, and social system influences); and identify predictors of their genomic knowledge. METHODS: A cross-sectional online survey was administered between September 2023 to February 2024 to nurses working in cancer care in NL. Variables associated with nurses' implementation of genomics-informed practice were measured using the Genomic Nursing Concept Inventory (GNCI©) and select, modified questions from the Genetics Genomics Nursing Practice Survey (GGNPS). Descriptive and inferential statistics were used to report findings. RESULTS: The survey was completed by 50 NL oncology nurses. While 46% of participants indicated that patients had initiated conversations about genomics with them in the past 3 months, their knowledge levels and reported confidence with genomics practices were low overall. Despite this, participants indicated largely positive attitudes toward the benefits of adopting genomics in practice and a willingness to learn more. CONCLUSION: Findings highlight opportunities to support oncology nurses with practice-based education and resources, to ensure readiness to meet patients' evolving needs and expectations surrounding genomics-informed cancer nursing care.

genomics

One brain, one mind: A joint EPA-EAN leadership perspective on brain health.

Neurology and psychiatry have operated as separate disciplines for over a century, yet this division reflects historical and institutional developments rather than the underlying biology of the brain. Contemporary neuroscience shows that brain and mental health disorders share genetic susceptibilities, inflammatory and metabolic pathways, environmental and social risk factors, and clinical features that cross diagnostic boundaries. Cognitive, emotional, sensory, and motor symptoms regularly appear across both neurological and psychiatric populations, and conditions such as seizures, psychosis, mood disorders, cognitive disorders, and sleep disorders are common to both. A brain health framework addresses this reality by treating the brain as a single biological organ whose function emerges from the interplay between genome and exposome - including stress, trauma, social context, existential meaning, pollution, and physical health - and which underlies perception, behaviour, cognition, emotion, resilience, and vulnerability. Translating this perspective into practice requires coordinated action across domains. Clinically, collaborative models such as joint neurology-psychiatry consultations and shared outpatient pathways can be implemented within existing resources to improve diagnostic clarity and continuity of care. In training, a more harmonised curriculum with shared foundations in neurobiology, joint seminars, and cross-rotations would equip clinicians with a common language while preserving specialist depth, and support the emerging fields of preventive neurology and preventive psychiatry. In research, organising studies around shared mechanisms and symptom dimensions, and launching joint funding calls, would enhance translational relevance and reduce duplication. To realise this vision, sustained leadership from European professional bodies is essential to establish collaboration as a shared professional standard.

Humans

Chromosome-level genome assembly of the large carpenter bee Xylocopa dejeanii Lepeletier, 1841 (Hymenoptera: Apidae).

Xylocopinae, a diverse bee subfamily comprising over 1,000 bee species, and also a major model system for studying the pollination and evolution of sociality. The lack of chromosome-level genome assembly resources for the Xylocopinae limits our research of their biology and evolution. Here, we provided the first pseudo-chromosomes genome assembly of the Xylocopa dejeanii combined PacBio CLR long reads, Illumina sequences, and Hi-C data. The final genome is 194.44 Mb located in 16 chromosomes. Our assembly includes 141 scaffolds, with a scaffold N50 length of 13.15 Mb. BUSCO analysis revealed 99.00% completeness. Genome annotation identified 28.27 Mb of repetitive elements, 10,970 protein-coding genes, and 432 ncRNAs. This high-quality X. dejeanii assembly advances our understanding of Xylocopinae genomics and provides new insights into bee evolution.

Animals

Chromosome-Level Reference Genome of the Desert Night Lizard Xantusia vigilis.

We present a reference-quality genome assembly for the desert night lizard (Xantusia vigilis). The night lizards (Xantusiidae) are a family of small-bodied lizards found in North America (Xantusia), Central America (Lepidophyma), and Cuba (Cricosaura). The night lizard family has an independent evolutionary history of at least 80 million years from its sister taxa within Scincoidea. The Xantusiids have several unique ecological, behavioral and evolutionary characteristics. For instance, the family contains the only squamate species that form diploid, unisexual, parthenogenic lineages. In addition, most night lizards are viviparous and form stable kin groups that are maintained over multiple years, an unusual life history strategy among lizards. Combining PacBio long-read sequencing, Hi-C, and RNAseq data we developed a reference-quality genome for the desert night lizard, X. vigilis. We assembled a complete mitochondrion and ~ 2.2 Gb nuclear genome, with 20 scaffolds that correlate in size to the X. vigilis karyotype. In addition, we found that X. vigilis chromosome 1 aligns with gene content of both of macrochromosome 1 and microchromosome 9 from a genome assembly of a species in the sister family Cordylidae (Hemicordylus capensis).

Xantusia

Genetic variation influences food-sharing sociability in honey bees.

Individual variation in sociability is a central feature of every society. This includes honey bees, with some individuals well connected and sociable, and others at the periphery of their colony's social network. However, the genetic and molecular bases of sociability are poorly understood. Trophallaxis-a behavior involving sharing liquid with nutritional and signaling properties-comprises a social interaction and a proxy for sociability in honey bee colonies: more sociable bees engage in more trophallaxis. Here, we identify genetic and molecular mechanisms of trophallaxis-based sociability by combining genome sequencing, brain transcriptomics, and automated behavioral tracking. A genome-wide association study (GWAS) identified 18 single nucleotide polymorphisms (SNPs) associated with variation in sociability. Several SNPs were localized to genes previously associated with sociability in other species, including in the context of human autism, suggesting shared molecular mechanisms of sociability. Variation in sociability also was linked to differential brain gene expression, particularly genes associated with neural signaling and development. Using comparative genomic and transcriptomic approaches, we also detected evidence for divergent mechanisms underpinning sociability across species, including those related to reward sensitivity and encounter probability. These results highlight both potential evolutionary conservation of the molecular roots of sociability and points of divergence.

Animals

Nested Admixture During and After the Trans-Atlantic Slave Trade on the Island of São Tomé.

Human genetic admixture, involving the contact between two or more previously isolated populations, can be a complex process influenced by social dynamics. In this study, we aim to reconstruct complex admixture histories in São Tomé, an island in the Gulf of Guinea where the Portuguese established one of the first plantation-based slave societies. Since the 15th century, migration waves from Africa and Europe, slavery, marooning, and indentured labour led to profound demographic shifts and social stratification on the island. Examining 2.5 million SNPs newly genotyped in 96 São Toméans, we observed patterns of genetic differentiation that were more complex than those of other populations descended from enslaved Africans on either side of the Atlantic. Using local ancestry inference and Identical-by-Descent methods, we identified five genetic clusters in São Tomé and reconstructed shared ancestries between each cluster and 70 African and European population samples, including an extensive sample from the Cabo Verde archipelago. Our findings align with historical records, retracing the major slave trade routes and labour-driven migrations after the abolition of slavery. We also identified gene flow between recently admixed groups that were previously isolated on the island. We call this process, creating multiple layers of genetic ancestry in admixed genomes, nested admixture. We suggest that changing social structures in São Tomé transformed the genetic structure of its population and influenced the admixture process. This study demonstrates how successive admixture and isolation events during and after the Trans-Atlantic Slave Trade shaped extant genetic diversity patterns at local scale in Africa.

Humans

Underrepresented populations in genomic research: a qualitative study of researchers' perspectives.

BACKGROUND: The lack of diversity in genomic data limits researchers' ability to investigate the relationships between genetic profiles, disease manifestations, and responses to new therapies. As a result, innovations in treatment could have potentially harmful effects on a significant portion of the population due to incomplete or inaccurate genomic data. In addition, the lack of harmonization in the use of population descriptors in genomic studies raises both ethical and scientific concerns regarding which descriptors should be used to study and recruit underrepresented populations. Therefore, understanding the factors contributing to the lack of diversity in genomic research is an urgent scientific, clinical, and public health priority. This study aims to explore the social and contextual factors influencing the participation of underrepresented populations in genomic research, from the perspective of researchers in the field. METHODS: A total of 13 semi-structured interviews were conducted with researchers experienced in genomic research in Canada and fluent in either French or English. The interview transcripts were analyzed using thematic analysis. RESULTS: Researchers identified several factors contributing to the low participation of underrepresented populations in genomic research, with one key factor being the geographic distribution of research institutions and the disconnect between research efforts and the communities being studied. To address this issue, participants stressed the importance of moving away from colonial practices, such as conducting research on a community without consulting its members in the design phase. Furthermore, it was suggested that existing diversity, equity, and inclusion policies alone were insufficient to effectively address the challenge. Lastly, the study also highlighted a potential link between how study populations are categorized and the willingness of underrepresented groups to participate in genomic research. CONCLUSION: Although researchers are generally aware of the literature on the causes, consequences, and potential solutions for increasing participation, confusion remains regarding the use of population descriptors. Our findings highlight the need for improved education, greater consensus, and expanded dialogue within the genomic research community to promote the harmonization of population descriptors.

Humans

Brinkmanship in intragenomic conflict.

When the Darwinian interests of genes in the genome collide, intragenomic conflicts evolve. Recent advances in social evolution predict that intragenomic conflicts shape diverse phenotypes. However, principles governing which side wins remain unresolved. Here, we use game theory to predict that power asymmetries arise from differences in appetite for risk between rival genes in 'wars of nerve'. We focus on 'genomic imprinting': differing expression between alleles inherited from mothers and fathers. Escalating conflict is commonly believed to risk damaging the whole organism. We show that genes can exploit risk strategically: genes prepared to take greater risks with the body's vulnerability to disorders and mortality gain coercive advantages, deterring countermoves. Kin selection generates differences in appetite for risk: for instance, if harm to the body frees resources for maternal siblings, genes from mothers have less to lose from gambling with the current body than do genes from fathers. Seemingly maladaptive developmental risks can be adaptively useful for higher-nerve genes, much as political states manipulate risk to coerce rivals. Our results suggest a determinant of power alongside the 'loudest voice prevails' principle, and call for empirical investigation of the extent and means by which risks of imprinting-related disorders are amplified by intragenomic brinkmanship.

Genomic Imprinting