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At least 19 recordsLinked to original sources

Sex-biased Migration and Demographic History of the Big European Firefly Lampyris noctiluca.

Differential dispersion between the sexes can impact the colonization process and demographic history of a species. Here, we explored the demographic history of the big European firefly, Lampyris noctiluca, which exhibits female neoteny. Distribution of L. noctiluca extends throughout Europe, but nothing is known about its colonization process. To investigate its demographic history, we produced the first Lampyris genome (653 Mb), including an IsoSeq annotation and the identification of the X chromosome. We collected 115 individuals from six populations of L. noctiluca (Finland to Italy) and generated whole-genome re-sequencing data for each individual. We inferred several population expansions and bottlenecks throughout the Pleistocene that correlate with glaciation events. Surprisingly, we uncovered strong population structure and low gene flow. We reject a stepwise, south to north, colonization history scenario and instead uncovered a complex demographic history with a putative eastern European origin. Analyzing the evolutionary history of the mitochondrial genome as well as X-linked and autosomal loci, we found evidence of a maternal colonialization of Germany, putatively from a farther western European population, followed by a male-only migration from south of the Alps (Italy). Overall, investigating the demographic history and colonization patterns of a species should form part of an integrative approach of biodiversity research. Our results provide evidence of sex-biased migration which is important to consider for demographic, biogeographic and species delimitation studies.

Animals

[Contemplations on demographic theories (author's transl)].

All demographic theories make statements on the relationship between population developments and economic developments. The demographic teachings of Adam Smith, Thomas Robert Malthus, and Karl Marx are embedded in their specific economic theories and contain ideologic statements which are not detrimental to demographic and economic sciences but a stimulus for research. The demographic theories which developed with the onset of the industrial revolution of the 19th century are all sceptical of too high populations independent of their analysis of the market mechanisms or of capitalistic production relationships. This has remained unchanged to date. The statistical evaluation of the 1980's underlines this problem. The reproductive behaviour and demographic theory of a highly industrialized economy can not be based on experience alone but must also be based on rational findings. The rejection of the prestige value of children on the reproductive behaviour which is independent of circumstances must be recognized.

Demography

Inferring the demographic history of Chinese and Indian rhesus macaque (Macaca mulatta) populations from PacBio HiFi long-read sequencing data.

The rhesus macaque (Macaca mulatta) is one of the most widely used animal models in biomedical research, both as it resembles humans in key biological aspects and as it is characterized by a broad geographic range. Most of the individuals housed in U.S. research colonies have been sampled from either China or India, though notably the source population of these animals has significantly shifted over time. Given the substantial genetic and immunological differences between these populations, a deeper understanding of the underlying population structure is critically important for biomedical interpretation. Despite this, the demographic histories of these two populations remain poorly resolved. Here, we present an analysis of whole-genome, PacBio HiFi long-read sequencing data from ten unrelated individuals of each population, applying four related model- and non-model based demographic inference approaches, in order to reconstruct their ancestral history. We evaluated the fit of the subsequently estimated models against the empirical data, and incorporated underlying uncertainty in the mutation rates used for scaling. We inferred a well-fitting population history characterized by substantial structure between Chinese and Indian populations, with a split time ∼140,000 generations ago from an ancestral population of ∼65,000 individuals. We additionally inferred the subsequent history of size change within, and gene flow between, these populations, reaching the current estimated sizes of ∼220,000 individuals in the Chinese population and ∼14,000 individuals in the Indian population. The robust baseline demographic model established in this study will serve as a valuable resource for future research on this species, including for improved fine-scale recombination mapping, selection inference, and association studies.

Cercopithecidae

Genetic structure and demographic history of house mice in western Europe inferred using whole-genome sequences.

The western house mouse, Mus musculus domesticus, is a human commensal and an outstanding model organism for studying a wide variety of traits and diseases. However, we have few genomic resources for wild mice and only a rudimentary understanding of the demographic history of house mice in Europe. Here, we sequenced 59 whole genomes of mice collected from England, Scotland, Wales, Guernsey, northern France, Italy, Portugal and Spain. We combined this dataset with 24 previously published sequences from southern France, Germany and Iran and compared patterns of population structure and inferred demographic parameters for house mice in western Europe to patterns seen in humans. Principal component and phylogenetic analyses identified three genetic clusters in western European mice. Admixture and f-branch statistics identified historical gene flow between these genetic clusters. Demographic analyses suggest a shared history of population bottlenecks prior to 20 000 years ago. Estimated divergence times between populations of house mice from western Europe ranged from 1500 to 5500 years ago, in general agreement with the zooarchaeological record. These results correspond well with key aspects of contemporary human population structure and the history of migration in western Europe, highlighting the commensal relationship of this important genetic model.

Animals

Characterisation of the Historic Demographic Decline of the British European Polecat Population.

The European polecat (Mustela putorius) has a widespread distribution across many countries of mainland Europe but is documented to be declining within these ranges. In Britain, direct persecution led to a severe decline of the polecat population during the 19th century. Unlike European mainland populations, it is now recovering across much of its former British range. The genomic and conservation implications of such a severe demographic decline, followed by the current recovery, have still to be characterised in the European polecat in Britain. Here we carry out population-level whole-genome analyses of 65 polecats from Britain (Wales and England) and the European mainland. Our analyses reveal that Welsh polecats show genetic variability from both English and European polecats, while British polecats as a whole exhibit signs of genetic isolation from mainland European populations. We also reconstructed the demographic history of the Welsh polecat to quantify the magnitude of the bottleneck. Our analyses confirmed the drastic decline of the Welsh polecat's effective population size, with a severe genetic bottleneck around 30-40 generations ago (1854-894). We investigated whether whole-genome diversity reflected this demographic event and found that Welsh polecats had significantly less genetic diversity than English polecats, but not European polecats. Runs of homozygosity and genetic load present in Welsh and English polecat genomes also indicated recent historic inbreeding. Our findings suggest that the increase in the British polecat population size may be attributed to admixture events. Additionally, we demonstrate that the Welsh polecat constitutes a genetically distinct population, which could be crucial for the overall conservation of European polecats by preserving unique genetic diversity.

Genetics, Population

Social justice and the demographic transition: lessons from India's Kerala State.

Kerala is a small, densely crowded state in South India. It is a poor state, even by Indian standards. Its per capita income of US$80 lies well below the all-India average of US$120, and it suffers from the lowest per capita caloric intake in India. Nevertheless, Kerala has managed to achieve the demographic transition from high (premodern) to low (modern) birth and death rates-something no other Indian state has been able to attain. Indeed, the magnitude of Kerala's fertility decline-the birth rate fell from 39 in 1961 to 26.5 in 1974-has never before been observed in a nation with comparable levels of income and undernutrition. Other indices of Kerala's soical development are equally surprising: levels of literacy, life expectancy, female education, and age at marriage are the highest in India, while mortality rates, including infant and child mortality, are the lowest among Indian states. But Kerala's anomalous and unexpected demographic trends and levels are not the result of the direct interventions designed to influence health and fertility levels elsewhere in India-conventional strategies of population control and health services delivery that thus far are notable for their failure to generate such positive results. Instead, Kerala's demographic levels evidently reflect a broad social response to structural reforms in its political economy.

Birth Rate

Faster inference of complex demographic models from large allele frequency spectra.

MOTIVATION: Demographic inference from the joint site frequency spectrum is limited by computation when many populations or many samples are analyzed. RESULTS: We present momi3, a JAX-based method for inferring complex demographic models from large allele frequency spectra. It supports continuous migration, GPU execution, automatic differentiation, standardized demographic model input, and genealogical pruning. These changes yield speedups up to 1000× over existing methods and enable analysis of archaic admixture models using hundreds of human genomes. AVAILABILITY AND IMPLEMENTATION: momi3 is implemented in Python/JAX as part of demestats. Source code is available at https://github.com/jthlab/demestats; documentation is available at https://demestats.readthedocs.org.

Humans

Targeted population genomics uncovers demographic history and genetic divergence in north American wild cranberry.

Wild populations of North American cranberry (Vaccinium macrocarpon Aiton) are reservoirs of genetic variation that may contribute to the improvement of breeding-relevant traits. However, the extent to which wild genetic variation is geographically structured and represented in elite germplasm remains unclear. We analysed 179 wild cranberry accessions from the upper Midwest and Eastern North America to estimate nucleotide diversity (π), population structure, and loci associated with genetic differentiation and environmental variables using a genome-informed targeted genotyping panel. Additionally, 14 demographic scenarios were evaluated using site-frequency-spectrum-based inference to identify historical events that could explain current genetic diversity. We observed extremely low nucleotide diversity within the targeted panel (π = 5 × 10-6). Rare allele distributions strongly influenced π and Tajima's D values, suggesting constrained diversity in the genomic regions assayed that is not captured by heterozygosity-based estimates alone. However, we interpreted these results as conservative lower bounds on genome-wide neutral diversity because the targeted panel is enriched for genic and conserved regions. A clear separation between the Midwest and East populations was observed, with inbreeding coefficients ranging from -0.13 to 0.15. Furthermore, site frequency spectrum inference from the targeted panel supported a demographic scenario consistent with a significant population reduction ≈15-14 thousand years ago (kya), followed by a divergence between the two regions ≈12 kya, and an asymmetric gene flow ≈1.3 kya. We detected 254 candidate loci showing regional allele-frequency differentiation. Several of these loci colocalized with candidate genes linked to stress response, development, and metabolic processes. To evaluate the representation of geographically differentiated wild alleles in a breeding context, we analysed Rutgers breeding materials (n = 484) and found that this panel is enriched for common alleles in Eastern wild populations. These findings indicate regionally structured allele-frequency variation in wild cranberry, with potential relevance to environmental response and breeding. This study extends prior wild cranberry population-genetic research by providing targeted-panel estimates of diversity, comparisons of demographic models, and breeding insights on geographically differentiated alleles, while highlighting the importance of conserving wild cranberry germplasm for use in modern breeding programs.

Journal Article

Demographic and affective covariates of pain.

Relationships of four demographic variables and five affective variables to eight attributes of low back pain were investigated in 251 patients by stepwise, multivariate analysis. The demographic variables are age, sex, race, and education. The affective variables are state anxiety, trait anxiety anxiety, hostility, and depression. Seven of the pain variables are from the factorially derived Low Back Pain Questionnaire. The eighth pain variable is a self-estimate of intensity. Relationships among demographic and pain variables are small and unsystematic. Hostility has a small, systematically inverse relation to pain variables, supporting theories relating low back pain to inhibition of anger. Anxiety has a small positive relationship, and depression has no relationship to pain variables. In general, the small relationships indicate that the Low Back Pain Questionnaire provides descriptions of pain that are not confounded by social characteristics or current emotional states of patients.

Adult

Harnessing survey data across multiple demographic groups in Illinois to assess survey questions and reveal insights about ticks and tick-borne disease risk: a meta-comparison study.

BACKGROUND: Ticks and tick-borne diseases (TTBDs) are major public and veterinary health issues, existing at the intersection of behavioral, environmental, ecological, climatic, and entomological factors. Knowledge, attitudes, and practices (KAP) surveys have become an insightful tool to yield information regarding the behavioral factors that can predispose individuals to TTBDs. Here we present a unique meta-comparison study of six KAP surveys on TTBDs conducted in Illinois among various demographics: farmers, Extension workers, general public, veterinary, human medicine, and public health professionals. Our goals were multi-fold: (a) to develop an approach to compare KAP surveys used across several stakeholders on a subject of public health concern (i.e., TTBD risk), (b) to analyze the usefulness of questions for revealing information on TTBDs across varied demographic groups in Illinois, and (c) to reveal qualitative insights from the open text survey responses across these surveyed groups. METHODS: We conducted comparative and item response theory (IRT) analysis of all the surveyed questions, which yielded a final set of 39 questions on knowledge and practices, most of them with discriminatory power. Independent textual analysis of the survey responses led to the development of eight separate sub-categories across three main super categories: ticks and tick-borne disease (TBD) risk, TBD treatment and management, and TBD prevention. RESULTS: This study not only introduces a novel approach for comparing multiple KAP surveys on the topic of TTBDs, but also highlights gaps regarding TTBD knowledge, perceptions, and prevention measures among a variety of stakeholders and calls for tailored training and awareness campaigns to reduce the burden of TBDs in the Midwestern US. This meta-comparison approach unveils additional insights from the combined analyses of the KAP surveys. We also discuss perspectives of the surveyed demographics, their experiences with TTBDs, and provide recommendations for future public health efforts. CONCLUSION: These results can guide public health campaigns around TBDs in the United States and help reduce the increasing burden of TBDs on humans and animals.

Animals

Mitogenomic Insights Into the Population Structure and Demographic History of Tree Shrews (Tupaia belangeri) in China.

The northern tree shrew (Tupaia belangeri) exhibits significant morphological and geographical variations, but its evolutionary history and subspecies boundaries remain controversial. Here, we analyzed the complete mitochondrial genomes of 63 individuals, representing 12 populations in China to study phylogenetic relationships, genetic diversity, and population history. Phylogenetic analysis consistently restored four mitochondrial branches with strong geographic structures and significant differences. The three lineages correspond to geographically restricted subspecies (T. b. tonquinia, T. b. modesta, and T. b. gaoligongensis), while individuals assigned to several traditional subspecies cluster in a broad mainland lineage (T. b. chinensis, T. b. yunalis, and T. b. yaoshanensis). The divergence time estimate places the origin of the main lineage in the Miocene, consistent with major tectonic and geomorphological events. Demographic analysis revealed different population histories, including varying degrees of expansion in recent continental and island lineages, as well as the long-term stability of T. b. gaoligongensis. Genetic diversity varied markedly among lineages, with the highest diversity observed in the T. b. gaoligongensis and the lowest diversity observed in the T. b. modesta. These findings demonstrate that landscape complexity and demographic history are key drivers of evolutionary diversification in T. belangeri, challenging classical morphology-based subspecies classifications and underscoring the need for comprehensive sampling across both domestic and international ranges.

Tupaia belangeri

Genome-wide insights into the evolutionary and demographic history of the red alga Mazzaella laminarioides: Evidence for speciation with ancient migration along the southeast Pacific coast.

The mechanisms driving lineage divergence in red algae remain unexplored, despite the group's remarkable diversity and ancient evolutionary history. The red alga Mazzaella laminarioides, a Chilean intertidal species complex composed of three parapatric cryptic lineages (North, Center, South), offers a valuable system to evaluate these processes, as its life history combines severe dispersal limitation with a haploid-diploid cycle that may influence the emergence of reproductive barriers. We reconstructed its evolutionary history using whole-genome sequencing and nuclear genome assembly of representative individuals from each lineage. Phylogenomic analyses based on 1,507 single-copy orthologs recovered three deeply divergent lineages with limited nuclear discordance consistent with incomplete lineage sorting. For both splits, demographic modelling was most consistent with an Ancient Migration scenario, although support over strict isolation was moderate, suggesting that divergence may have begun with low asymmetric ancestral gene flow followed by subsequent loss of connectivity, demographic bottlenecks, and later population expansion. Coding sequence analyses revealed lineage-specific dN/dS heterogeneity; only one South-lineage locus passed FDR correction (metaxin-1, mitochondrial protein import), with two further South-lineage candidates in chlorophyll and heme biosynthesis falling below the FDR threshold. Together, these signals suggest that divergent selective pressures on energy acquisition may have contributed to divergence at the southern end of the distribution. These results add to the small but growing body of whole-genome data for red algae and, alongside recent macroalgal studies, suggest that ancestral connectivity could be a recurrent feature of lineage divergence even in marine organisms with extremely restricted dispersal.

Rhodophyta

Genome evolution and long-term demographic history in true crocodiles.

Reference-quality genomes remain scarce for true crocodiles (Crocodylus), limiting comparative analyses of genome evolution and demographic history. Here, we generated and analyzed 2 long-read genomes, 1 for Crocodylus intermedius and 1 for C. niloticus, to investigate genome architecture, coalescent effective population size (Ne), and patterns of molecular evolution across crocodilians. Comparative analyses revealed broadly similar repeat landscapes in both species and extensive macro-synteny with Alligator sinensis, indicating strong structural conservation across crocodilian genomes. Using phased diploid assemblies and MSMC2, we reconstructed historical Ne trajectories and found marked differences between species. Crocodylus intermedius exhibited persistently low Ne throughout most of the late Quaternary, with a pronounced decline during the Late Pleistocene-early Holocene transition. In contrast, C. niloticus showed substantially larger Ne over comparable time intervals. Genome-wide codon-based analyses identified significant heterogeneity in dN/dS (ω) among crocodilian lineages. Crocodylus niloticus showed the lowest genome-wide ω, whereas elevated values in C. intermedius and other lineages were consistent with reduced long-term efficacy of purifying selection under smaller historical population sizes. Branch-site tests identified candidate genes under positive selection in both focal species, with functional categories related to ion transport, endocrine regulation, and cellular signaling. Together, these results provide genomic resources for Crocodylus and support an association between long-term demographic history and genome-wide patterns of molecular evolution across crocodilians.

Animals

The Demographic History of Populations and Genomic Imprinting have Shaped the Transposon Patterns in Arabidopsis lyrata.

Purifying selection is expected to prevent the accumulation of transposable elements (TEs) within their host, especially when located in and around genes and if affected by epigenetic silencing. However, positive selection may favor the spread of TEs, causing genomic imprinting under parental conflict, as genomic imprinting allows parent-specific influence over resource accumulation to the progeny. Concomitantly, the number and frequency of TE insertions in natural populations are conditioned by demographic events. In this study, we aimed to test how demography and selective forces interact to affect the accumulation of TEs around genes, depending on their epigenetic silencing, with a particular focus on imprinted genes. To this aim, we compared the frequency and distribution of TEs in Arabidopsis lyrata from Europe and North America. Generally, we found that TE insertions showed a lower frequency when they were inserted in or near genes, especially TEs targeted by epigenetic silencing, suggesting purifying selection at work. We also found that many TEs were lost or got fixed in North American populations during the colonization and the postglacial range expansion from refugia of the species in North America, as well as during the transition to selfing, suggesting a potential "TE load." Finally, we found that silenced TEs increased in frequency and even tended to reach fixation when they were linked to imprinted genes. We conclude that in A. lyrata, genomic imprinting has spread in natural populations through demographic events and positive selection acting on silenced TEs, potentially under a parental conflict scenario.

DNA Transposable Elements

Genome sequencing and population genomics provide insights into the demographic history, genetic load, and local adaptation of an endangered Tertiary relict.

Endangered Tertiary relict trees represent an exceptional evolutionary heritage with small and isolated populations, yet little is known about how demographic history, local adaptation, and genetic load have affected their long-term survival and extinction risk. We performed whole-genome sequencing and population genomic analyses on Ulmus elongata L. K. Fu & C. S. Ding, an endangered Tertiary relict tree endemic to East Asia. By integrating genomes from U. elongata and seven other endangered trees from public databases, we identified rate-decelerated genes across endangered trees and genes under positive selection of U. elongata associated with tissue development, detoxification, and immune response, and signal transduction and regulation mechanisms potentially leading to endangered status. Demographic analyses revealed continuous population decline from the late Miocene to present, especially during the last glacial maximum (LGM) and last 10&#x2009;000&#x2009;years. Spearman correlation indicated a strong negative relationship between effective population size and human population density (rpopulation density&#x2009;=&#x2009;-0.90, P&#x2009;<&#x2009;0.001) as well as cropland use (rcropland use&#x2009;=&#x2009;-0.89, P&#x2009;<&#x2009;0.001). Genotype-environment association (GEA) analyses identified a set of candidate genes associated with temperature and precipitation, supporting a polygenic adaptation model in U. elongata. Overall, our findings underscore the severe population bottlenecks that have led to the fixation of strongly deleterious mutations and inbreeding, further compromising the adaptive potential and long-term viability of U. elongata. Furthermore, assessments of genomic vulnerability under future climate scenarios revealed higher genetic offsets in northern region of Fujian and Jiangxi populations, suggesting these regions require prioritized conservation efforts due to reduced adaptive capacity.

Endangered Species

Psychologic status of community residents along major demographic dimensions.

In a 1972 Chicago area survey of 2,299 adult community residents the prevalence of several psychologic measures were outlined along major demographic dimensions. Measures of psychologic status included a psychiatric symptom index, number of psychosomatic disorders, recent use of psychoactive drugs, and indexes of self-esteem and of self-efficacy. Results for psychiatric symptomatology showed it to be decidely higher among women, those in the lowest socioeconomic level, and those who are separated from their spouses. Blacks and whites showed no differences in symptomatology. Using multiple regression analysis, the combined effects of sex, age, marital status, and income accounted for 7% of the total variance of psychiatric symptoms. In a like manner, the prevalence of the other four psychologic characteristics has been viewed in the context of major demographic variables, with each showing a specific pattern of relationships.

Adaptation, Psychological

Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity.

IMPORTANCE: Understanding the pathogenic mechanisms of Fuchs endothelial corneal dystrophy (FECD) could contribute to developing gene-targeted therapies. OBJECTIVE: To investigate associations between demographic data and age at first keratoplasty in a genetically refined FECD cohort. DESIGN, SETTING, AND PARTICIPANTS: This retrospective cohort study recruited 894 individuals with FECD at Moorfields Eye Hospital (London) and General University Hospital (Prague) from September 2009 to July 2023. Ancestry was inferred from genome-wide single nucleotide polymorphism array data. CTG18.1 status was determined by short tandem repeat and/or triplet-primed polymerase chain reaction. One or more expanded alleles (&#x2265;50 repeats) were classified as expansion-positive (Exp+). Expansion-negative (Exp-) cases were exome sequenced. MAIN OUTCOMES AND MEASURES: Association between variants in FECD-associated genes, demographic data, and age at first keratoplasty. RESULTS: Within the total cohort (n&#x2009;=&#x2009;894), 77.3% of patients were Exp+. Most European (668 of 829 [80.6%]) and South Asian (14 of 22 [63.6%]) patients were Exp+. The percentage of female patients was higher (151 [74.4%]) in the Exp- cohort compared to the Exp+ cohort (395 [57.2%]; difference, 17.2%; 95% CI, 10.1%-24.3%; P&#x2009;<&#x2009;.001). The median (IQR) age at first keratoplasty of the Exp&#x2009;+&#x2009;patients (68.2 years [63.2-73.6]) was older than the Exp- patients (61.3 years [52.6-70.4]; difference, 6.5 years; 95% CI, 3.4-9.7; P&#x2009;<&#x2009;.001). The CTG18.1 repeat length of the largest expanded allele within the Exp+ group was inversely correlated with the age at first keratoplasty (&#x3b2;, -0.087; 95% CI, -0.162 to -0.012; P&#x2009;=&#x2009;.02). The ratio of biallelic to monoallelic expanded alleles was higher in the FECD cohort (1:14) compared to an unaffected control group (1:94; P&#x2009;<&#x2009;.001), indicating that 2 Exp+ alleles were associated with increased disease penetrance compared with 1 expansion. Potentially pathogenic variants (minor allele frequency, <0.01; combined annotation dependent depletion, >15) were only identified in FECD-associated genes in 13 Exp- individuals (10.1%). CONCLUSIONS AND RELEVANCE: In this multicenter cohort study among individuals with FECD, CTG18.1 expansions were present in most European and South Asian patients, while CTG18.1 repeat length and zygosity status were associated with modifications in disease severity and penetrance. Known disease-associated genes accounted for only a minority of Exp- cases, with unknown risk factors associated with disease in the rest of this subgroup. These data may have implications for future FECD gene-targeted therapy development.

Adult

Demographic and clinical characteristics as predictors of readmission: a one-year follow-up.

Follows up an earlier investigation in which demographic and clinical characteristics of psychiatric patients were used to predict readmission within 3 months of discharge. In the initial study, stepwise multiple regression analysis identified six variables as the optimal set of predictors for readmission within 3 months of discharge: type of discharge, number of prior psychiatric hospitalizations, race, suicide attempt within 1 month of admission, subjective report of depression upon admission, and occupational level (R = .452). In the present study the same sample was followed up at 1 year after discharge, and demographic and clinical variables were used to predict readmission within 1 year of discharge. Stepwise multiple regression analysis identified three variables as the optimal set of predictors for readmission within 1 year of discharge: past history of suicidal behavior, subjective report of depression upon admission, and number of prior psychiatric hospitalizations. Changes in predictors as a function of length of follow-up period are considered, and implications of the findings for identifying high-risk readmission candidates are discussed.

Adult