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1.
Cell ; 184(19): 4874-4885.e16, 2021 09 16.
Artigo em Inglês | MEDLINE | ID: mdl-34433011

RESUMO

Only five species of the once-diverse Rhinocerotidae remain, making the reconstruction of their evolutionary history a challenge to biologists since Darwin. We sequenced genomes from five rhinoceros species (three extinct and two living), which we compared to existing data from the remaining three living species and a range of outgroups. We identify an early divergence between extant African and Eurasian lineages, resolving a key debate regarding the phylogeny of extant rhinoceroses. This early Miocene (∼16 million years ago [mya]) split post-dates the land bridge formation between the Afro-Arabian and Eurasian landmasses. Our analyses also show that while rhinoceros genomes in general exhibit low levels of genome-wide diversity, heterozygosity is lowest and inbreeding is highest in the modern species. These results suggest that while low genetic diversity is a long-term feature of the family, it has been particularly exacerbated recently, likely reflecting recent anthropogenic-driven population declines.


Assuntos
Evolução Molecular , Genoma , Perissodáctilos/genética , Animais , Demografia , Fluxo Gênico , Variação Genética , Geografia , Heterozigoto , Homozigoto , Especificidade de Hospedeiro , Cadeias de Markov , Mutação/genética , Filogenia , Especificidade da Espécie , Fatores de Tempo
2.
Cell ; 182(5): 1077-1092, 2020 09 03.
Artigo em Inglês | MEDLINE | ID: mdl-32846157

RESUMO

Infectious diseases prevalent in humans and animals are caused by pathogens that once emerged from other animal hosts. In addition to these established infections, new infectious diseases periodically emerge. In extreme cases they may cause pandemics such as COVID-19; in other cases, dead-end infections or smaller epidemics result. Established diseases may also re-emerge, for example by extending geographically or by becoming more transmissible or more pathogenic. Disease emergence reflects dynamic balances and imbalances, within complex globally distributed ecosystems comprising humans, animals, pathogens, and the environment. Understanding these variables is a necessary step in controlling future devastating disease emergences.


Assuntos
Doenças Transmissíveis Emergentes/epidemiologia , Infecções por Coronavirus/epidemiologia , Pneumonia Viral/epidemiologia , COVID-19 , Doenças Transmissíveis Emergentes/prevenção & controle , Doenças Transmissíveis Emergentes/transmissão , Infecções por Coronavirus/prevenção & controle , Infecções por Coronavirus/transmissão , Demografia , Meio Ambiente , Interações Hospedeiro-Patógeno , Humanos , Pandemias/prevenção & controle , Pneumonia Viral/prevenção & controle , Pneumonia Viral/transmissão
3.
Nature ; 626(7999): 549-554, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38122822

RESUMO

Tropical cyclones have far-reaching impacts on livelihoods and population health that often persist years after the event1-4. Characterizing the demographic and socioeconomic profile and the vulnerabilities of exposed populations is essential to assess health and other risks associated with future tropical cyclone events5. Estimates of exposure to tropical cyclones are often regional rather than global6 and do not consider population vulnerabilities7. Here we combine spatially resolved annual demographic estimates with tropical cyclone wind fields estimates to construct a global profile of the populations exposed to tropical cyclones between 2002 and 2019. We find that approximately 560 million people are exposed yearly and that the number of people exposed has increased across all cyclone intensities over the study period. The age distribution of those exposed has shifted away from children (less than 5 years old) and towards older people (more than 60 years old) in recent years compared with the early 2000s. Populations exposed to tropical cyclones are more socioeconomically deprived than those unexposed within the same country, and this relationship is more pronounced for people exposed to higher-intensity storms. By characterizing the patterns and vulnerabilities of exposed populations, our results can help identify mitigation strategies and assess the global burden and future risks of tropical cyclones.


Assuntos
Tempestades Ciclônicas , Idoso , Pré-Escolar , Humanos , Pessoa de Meia-Idade , Tempestades Ciclônicas/estatística & dados numéricos , Vento , Distribuição por Idade , Clima Tropical/efeitos adversos , Fatores Socioeconômicos , Demografia , Medição de Risco
4.
Nature ; 620(7975): 849-854, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37558879

RESUMO

Protracted global conflicts during the past decade have led to repeated major humanitarian protection crises in Europe. During the height of the Syrian refugee crisis at the end of 2015, Europe hosted around 2.3 million people requesting asylum1. Today, the ongoing war in Ukraine has resulted in one of the largest humanitarian emergencies in Europe since World War II, with more than eight million Ukrainians seeking refuge across Europe2. Here we explore whether repeated humanitarian crises threaten to exhaust solidarity and whether Europeans welcome Ukrainian asylum seekers over other asylum seekers3,4. We conducted repeat conjoint experiments during the 2015-2016 and 2022 refugee crises, asking 33,000 citizens in 15 European countries to evaluate randomly varied profiles of asylum seekers. We find that public preferences for asylum seekers with specific attributes have remained remarkably stable and general support has, if anything, increased slightly over time. Ukrainian asylum seekers were welcomed in 2022, with their demographic, religious and displacement profile having a larger role than their nationality. Yet, this welcome did not come at the expense of support for other marginalized refugee groups, such as Muslim refugees. These findings have implications for our theoretical understanding of the drivers and resilience of public attitudes towards refugees and for policymakers tasked to find effective responses to the enduring stress on the asylum system5-8.


Assuntos
Demografia , Opinião Pública , Refugiados , Atitude , Europa (Continente) , Refugiados/legislação & jurisprudência , Refugiados/estatística & dados numéricos , Religião , Síria/etnologia , Fatores de Tempo , Ucrânia/etnologia
5.
Nature ; 596(7870): 80-86, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34349288

RESUMO

Flooding affects more people than any other environmental hazard and hinders sustainable development1,2. Investing in flood adaptation strategies may reduce the loss of life and livelihood caused by floods3. Where and how floods occur and who is exposed are changing as a result of rapid urbanization4, flood mitigation infrastructure5 and increasing settlements in floodplains6. Previous estimates of the global flood-exposed population have been limited by a lack of observational data, relying instead on models, which have high uncertainty3,7-11. Here we use daily satellite imagery at 250-metre resolution to estimate flood extent and population exposure for 913 large flood events from 2000 to 2018. We determine a total inundation area of 2.23 million square kilometres, with 255-290 million people directly affected by floods. We estimate that the total population in locations with satellite-observed inundation grew by 58-86 million from 2000 to 2015. This represents an increase of 20 to 24 per cent in the proportion of the global population exposed to floods, ten times higher than previous estimates7. Climate change projections for 2030 indicate that the proportion of the population exposed to floods will increase further. The high spatial and temporal resolution of the satellite observations will improve our understanding of where floods are changing and how best to adapt. The global flood database generated from these observations will help to improve vulnerability assessments, the accuracy of global and local flood models, the efficacy of adaptation interventions and our understanding of the interactions between landcover change, climate and floods.


Assuntos
Aclimatação , Demografia , Planejamento em Desastres , Inundações/estatística & dados numéricos , Modelos Teóricos , Imagens de Satélites , Bases de Dados como Assunto , Clima Extremo , Humanos , Medição de Risco
6.
Proc Natl Acad Sci U S A ; 121(21): e2318293121, 2024 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-38753504

RESUMO

The antiquity of human dispersal into Mediterranean islands and ensuing coastal adaptation have remained largely unexplored due to the prevailing assumption that the sea was a barrier to movement and that islands were hostile environments to early hunter-gatherers [J. F. Cherry, T. P. Leppard, J. Isl. Coast. Archaeol. 13, 191-205 (2018), 10.1080/15564894.2016.1276489]. Using the latest archaeological data, hindcasted climate projections, and age-structured demographic models, we demonstrate evidence for early arrival (14,257 to 13,182 calendar years ago) to Cyprus and predicted that large groups of people (~1,000 to 1,375) arrived in 2 to 3 main events occurring within <100 y to ensure low extinction risk. These results indicate that the postglacial settlement of Cyprus involved only a few large-scale, organized events requiring advanced watercraft technology. Our spatially debiased and Signor-Lipps-corrected estimates indicate rapid settlement of the island within <200 y, and expansion to a median of 4,000 to 5,000 people (0.36 to 0.46 km-2) in <11 human generations (<300 y). Our results do not support the hypothesis of inaccessible and inhospitable islands in the Mediterranean for pre-agropastoralists, agreeing with analogous conclusions for other parts of the world [M. I. Bird et al., Sci. Rep. 9, 8220 (2019), 10.1038/s41598-019-42946-9]. Our results also highlight the need to revisit these questions in the Mediterranean and test their validity with new technologies, field methods, and data. By applying stochastic models to the Mediterranean region, we can place Cyprus and large islands in general as attractive and favorable destinations for paleolithic peoples.


Assuntos
Arqueologia , Humanos , Chipre , Arqueologia/métodos , História Antiga , Migração Humana/história , Demografia/métodos
7.
Proc Natl Acad Sci U S A ; 121(3): e2206192119, 2024 Jan 16.
Artigo em Inglês | MEDLINE | ID: mdl-38190539

RESUMO

The warnings of potential climate migration first appeared in the scientific literature in the late 1970s when increased recognition that disintegrating ice sheets could drive people to migrate from coastal cities. Since that time, scientists have modeled potential climate migration without integrating other population processes, potentially obscuring the demographic amplification of this migration. Climate migration could amplify demographic change-enhancing migration to destinations and suppressing migration to origins. Additionally, older populations are the least likely to migrate, and climate migration could accelerate population aging in origin areas. Here, we investigate climate migration under sea-level rise (SLR), a single climatic hazard, and examine both the potential demographic amplification effect and population aging by combining matrix population models, flood hazard models, and a migration model built on 40 y of environmental migration in the United States to project the US population distribution of US counties. We find that the demographic amplification of SLR for all feasible Representative Concentration Pathway-Shared Socioeconomic Pathway (RCP-SSP) scenarios in 2100 ranges between 8.6-28 M [5.7-53 M]-5.3 and 18 times the number of migrants (0.4-10 M). We also project significant aging of coastal areas as youthful populations migrate but older populations remain, accelerating population aging in origin areas. As the percentage of the population lost due to climate migration increases, the median age also increases-up to 10+ y older in some highly impacted coastal counties. Additionally, our population projection approach can be easily adapted to investigate additional or multiple climate hazards.


Assuntos
Envelhecimento , Inundações , Humanos , Cidades , Camada de Gelo , Demografia
8.
Proc Natl Acad Sci U S A ; 121(2): e2308652121, 2024 Jan 09.
Artigo em Inglês | MEDLINE | ID: mdl-38175866

RESUMO

The hypothalamic-pituitary-thyroid (HPT) axis is fundamental to human biology, exerting central control over energy expenditure and body temperature. However, the consequences of normal physiologic HPT-axis variation in populations without diagnosed thyroid disease are poorly understood. Using nationally representative data from the 2007 to 2012 National Health and Nutrition Examination Survey, we explore relationships with demographic characteristics, longevity, and socio-economic factors. We find much larger variation across age in free T3 than other HPT-axis hormones. T3 and T4 have opposite relationships to mortality: free T3 is inversely related and free T4 is positively related to the likelihood of death. Free T3 and household income are negatively related, particularly at lower incomes. Finally, free T3 among older adults is associated with labor both in terms of unemployment and hours worked. Physiologic TSH/T4 explain only 1.7% of T3 variation, and neither are appreciably correlated to socio-economic outcomes. Taken together, our data suggest an unappreciated complexity of the HPT-axis signaling cascade broadly such that TSH and T4 may not be accurate surrogates of free T3. Furthermore, we find that subclinical variation in the HPT-axis effector hormone T3 is an important and overlooked factor linking socio-economic forces, human biology, and aging.


Assuntos
Glândula Tireoide , Tri-Iodotironina , Humanos , Idoso , Longevidade , Status Econômico , Inquéritos Nutricionais , Sistema Hipotálamo-Hipofisário/fisiologia , Tireotropina , Demografia , Tiroxina
9.
Am J Hum Genet ; 110(10): 1804-1816, 2023 10 05.
Artigo em Inglês | MEDLINE | ID: mdl-37725976

RESUMO

Demographic models of Latin American populations often fail to fully capture their complex evolutionary history, which has been shaped by both recent admixture and deeper-in-time demographic events. To address this gap, we used high-coverage whole-genome data from Indigenous American ancestries in present-day Mexico and existing genomes from across Latin America to infer multiple demographic models that capture the impact of different timescales on genetic diversity. Our approach, which combines analyses of allele frequencies and ancestry tract length distributions, represents a significant improvement over current models in predicting patterns of genetic variation in admixed Latin American populations. We jointly modeled the contribution of European, African, East Asian, and Indigenous American ancestries into present-day Latin American populations. We infer that the ancestors of Indigenous Americans and East Asians diverged ∼30 thousand years ago, and we characterize genetic contributions of recent migrations from East and Southeast Asia to Peru and Mexico. Our inferred demographic histories are consistent across different genomic regions and annotations, suggesting that our inferences are robust to the potential effects of linked selection. In conjunction with published distributions of fitness effects for new nonsynonymous mutations in humans, we show in large-scale simulations that our models recover important features of both neutral and deleterious variation. By providing a more realistic framework for understanding the evolutionary history of Latin American populations, our models can help address the historical under-representation of admixed groups in genomics research and can be a valuable resource for future studies of populations with complex admixture and demographic histories.


Assuntos
Genética Populacional , Genoma Humano , Humanos , América Latina , Genoma Humano/genética , Demografia , Brancos
10.
PLoS Biol ; 21(10): e3002333, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37824452

RESUMO

The ability to perform genomic sequencing on long-dead organisms is opening new frontiers in evolutionary research. These opportunities are especially notable in the case of museum collections, from which countless documented specimens may now be suitable for genomic analysis-if data of sufficient quality can be obtained. Here, we report 25 newly sequenced genomes from museum specimens of the model organism Drosophila melanogaster, including the oldest extant specimens of this species. By comparing historical samples ranging from the early 1800s to 1933 against modern-day genomes, we document evolution across thousands of generations, including time periods that encompass the species' initial occupation of northern Europe and an era of rapidly increasing human activity. We also find that the Lund, Sweden population underwent local genetic differentiation during the early 1800s to 1933 interval (potentially due to drift in a small population) but then became more similar to other European populations thereafter (potentially due to increased migration). Within each century-scale time period, our temporal sampling allows us to document compelling candidates for recent natural selection. In some cases, we gain insights regarding previously implicated selection candidates, such as ChKov1, for which our inferred timing of selection favors the hypothesis of antiviral resistance over insecticide resistance. Other candidates are novel, such as the circadian-related gene Ahcy, which yields a selection signal that rivals that of the DDT resistance gene Cyp6g1. These insights deepen our understanding of recent evolution in a model system, and highlight the potential of future museomic studies.


Assuntos
Proteínas de Drosophila , Drosophila melanogaster , Animais , Humanos , Drosophila melanogaster/genética , Proteínas de Drosophila/genética , Resistência a Inseticidas/genética , Genoma de Inseto/genética , Demografia
11.
PLoS Biol ; 21(7): e3002191, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37463141

RESUMO

We study natural DNA polymorphisms and associated phenotypes in the Arabidopsis relative Cardamine hirsuta. We observed strong genetic differentiation among several ancestry groups and broader distribution of Iberian relict strains in European C. hirsuta compared to Arabidopsis. We found synchronization between vegetative and reproductive development and a pervasive role for heterochronic pathways in shaping C. hirsuta natural variation. A single, fast-cycling ChFRIGIDA allele evolved adaptively allowing range expansion from glacial refugia, unlike Arabidopsis where multiple FRIGIDA haplotypes were involved. The Azores islands, where Arabidopsis is scarce, are a hotspot for C. hirsuta diversity. We identified a quantitative trait locus (QTL) in the heterochronic SPL9 transcription factor as a determinant of an Azorean morphotype. This QTL shows evidence for positive selection, and its distribution mirrors a climate gradient that broadly shaped the Azorean flora. Overall, we establish a framework to explore how the interplay of adaptation, demography, and development shaped diversity patterns of 2 related plant species.


Assuntos
Arabidopsis , Cardamine , Arabidopsis/genética , Cardamine/genética , Genótipo , Fenótipo , Demografia
12.
Nature ; 586(7831): 749-756, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-33087929

RESUMO

The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world1. Here we describe the release of exome-sequence data for the first 49,960 study participants, revealing approximately 4 million coding variants (of which around 98.6% have a frequency of less than 1%). The data include 198,269 autosomal predicted loss-of-function (LOF) variants, a more than 14-fold increase compared to the imputed sequence. Nearly all genes (more than 97%) had at least one carrier with a LOF variant, and most genes (more than 69%) had at least ten carriers with a LOF variant. We illustrate the power of characterizing LOF variants in this population through association analyses across 1,730 phenotypes. In addition to replicating established associations, we found novel LOF variants with large effects on disease traits, including PIEZO1 on varicose veins, COL6A1 on corneal resistance, MEPE on bone density, and IQGAP2 and GMPR on blood cell traits. We further demonstrate the value of exome sequencing by surveying the prevalence of pathogenic variants of clinical importance, and show that 2% of this population has a medically actionable variant. Furthermore, we characterize the penetrance of cancer in carriers of pathogenic BRCA1 and BRCA2 variants. Exome sequences from the first 49,960 participants highlight the promise of genome sequencing in large population-based studies and are now accessible to the scientific community.


Assuntos
Bases de Dados Genéticas , Sequenciamento do Exoma , Exoma/genética , Mutação com Perda de Função/genética , Fenótipo , Idoso , Densidade Óssea/genética , Colágeno Tipo VI/genética , Demografia , Feminino , Genes BRCA1 , Genes BRCA2 , Genótipo , Humanos , Canais Iônicos/genética , Masculino , Pessoa de Meia-Idade , Neoplasias/genética , Penetrância , Fragmentos de Peptídeos/genética , Reino Unido , Varizes/genética , Proteínas Ativadoras de ras GTPase/genética
13.
Proc Natl Acad Sci U S A ; 120(12): e2212035120, 2023 03 21.
Artigo em Inglês | MEDLINE | ID: mdl-36913571

RESUMO

Recent studies have suggested that protected areas often fail to conserve target species. However, the efficacy of terrestrial protected areas is difficult to measure, especially for highly vagile species like migratory birds that may move between protected and unprotected areas throughout their lives. Here, we use a 30-y dataset of detailed demographic data from a migratory waterbird, the Whooper swan (Cygnus cygnus), to assess the value of nature reserves (NRs). We assess how demographic rates vary at sites with varying levels of protection and how they are influenced by movements between sites. Swans had a lower breeding probability when wintering inside NRs than outside but better survival for all age classes, generating a 30-fold higher annual growth rate within NRs. There was also a net movement of individuals from NRs to non-NRs. By combining these demographic rates and estimates of movement (into and out of NRs) into population projection models, we show that the NRs should help to double the population of swans wintering in the United Kingdom by 2030. These results highlight the major effect that spatial management can have on species conservation, even when the areas protected are relatively small and only used during short periods of the life cycle.


Assuntos
Migração Animal , Anseriformes , Humanos , Animais , Aves , Patos , Estações do Ano , Demografia
14.
Proc Natl Acad Sci U S A ; 120(18): e2301754120, 2023 05 02.
Artigo em Inglês | MEDLINE | ID: mdl-37094127

RESUMO

Climate change is driving widespread changes in ecological communities. Warming temperatures often shift community composition toward more heat-tolerant taxa. The factors influencing the rate of this "thermophilization" process remain unclear. Using 10-y census data from an extensive forest plot network, we show that mature tree communities of the western United States have undergone thermophilization. The mean magnitude of climate warming over the 10-y study interval was 0.32 °C, whereas the mean magnitude of thermophilization was 0.039 °C. Differential tree mortality was the strongest demographic driver of thermophilization, rather than growth or recruitment. Thermophilization rates are associated with recent changes in temperature and hydrologic variables, as well as topography and disturbance, with insect damage showing the strongest standardized effect on thermophilization rates. On average, thermophilization occurred more rapidly on cool, north-facing hillslopes. Our results demonstrate that warming temperatures are outpacing the composition of western US forest tree communities, and that climate change may erode biodiversity patterns structured by topographic variation.


Assuntos
Mudança Climática , Árvores , Estados Unidos , Florestas , Biodiversidade , Demografia
15.
Proc Natl Acad Sci U S A ; 120(28): e2221961120, 2023 07 11.
Artigo em Inglês | MEDLINE | ID: mdl-37399376

RESUMO

Changes in phenology in response to ongoing climate change have been observed in numerous taxa around the world. Differing rates of phenological shifts across trophic levels have led to concerns that ecological interactions may become increasingly decoupled in time, with potential negative consequences for populations. Despite widespread evidence of phenological change and a broad body of supporting theory, large-scale multitaxa evidence for demographic consequences of phenological asynchrony remains elusive. Using data from a continental-scale bird-banding program, we assess the impact of phenological dynamics on avian breeding productivity in 41 species of migratory and resident North American birds breeding in and around forested areas. We find strong evidence for a phenological optimum where breeding productivity decreases in years with both particularly early or late phenology and when breeding occurs early or late relative to local vegetation phenology. Moreover, we demonstrate that landbird breeding phenology did not keep pace with shifts in the timing of vegetation green-up over a recent 18-y period, even though avian breeding phenology has tracked green-up with greater sensitivity than arrival for migratory species. Species whose breeding phenology more closely tracked green-up tend to migrate shorter distances (or are resident over the entire year) and breed earlier in the season. These results showcase the broadest-scale evidence yet of the demographic impacts of phenological change. Future climate change-associated phenological shifts will likely result in a decrease in breeding productivity for most species, given that bird breeding phenology is failing to keep pace with climate change.


Assuntos
Aves Canoras , Animais , Mudança Climática , Estações do Ano , América do Norte , Demografia
16.
Proc Natl Acad Sci U S A ; 120(4): e2217937120, 2023 01 24.
Artigo em Inglês | MEDLINE | ID: mdl-36652474

RESUMO

We leverage metadata on over 36 million journal articles and reviews indexed by Scopus in order to estimate migration of scholars based on information on changes in their institutional affiliations over time. We produce a database of yearly international migration flows of scholars, for all countries from 1998 to 2017. We use the open-access database to provide descriptive evidence on the relationship between economic development and the emigration propensity of scholars. Statistical analysis using generalized additive mixed models reveals that emigration rates initially decrease as GDP per capita increases. Then, starting from around 25,000 dollars (2017 constant international dollars at purchasing power parity), the trend reverses and emigration propensity increases as countries get richer. This U-shaped pattern contrasts with what has been found in the literature for emigration rates for the general population and calls for theoretical frameworks to understand the heterogeneous responses of migration to development.


Assuntos
Desenvolvimento Econômico , Emigração e Imigração , Humanos , Dinâmica Populacional , Demografia , Economia , Países em Desenvolvimento
17.
PLoS Genet ; 19(9): e1010931, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37676865

RESUMO

f-statistics have emerged as a first line of analysis for making inferences about demographic history from genome-wide data. Not only are they guaranteed to allow robust tests of the fits of proposed models of population history to data when analyzing full genome sequencing data-that is, all single nucleotide polymorphisms (SNPs) in the individuals being analyzed-but they are also guaranteed to allow robust tests of models for SNPs ascertained as polymorphic in a population that is an outgroup in a phylogenetic sense to all groups being analyzed. True "outgroup ascertainment" is in practice impossible in humans because our species has arisen from a substructured ancestral population that does not descend from a homogeneous ancestral population going back many hundreds of thousands of years into the past. However, initial studies suggested that non-outgroup-ascertainment schemes might produce robust enough results using f-statistics, and that motivated widespread fitting of models to data using non-outgroup-ascertained SNP panels such as the "Affymetrix Human Origins array" which has been genotyped on thousands of modern individuals from hundreds of populations, or the "1240k" in-solution enrichment reagent which has been the source of about 70% of published genome-wide data for ancient humans. In this study, we show that while analyses of population history using such panels work well for studies of relationships among non-African populations and one African outgroup, when co-modeling more than one sub-Saharan African and/or archaic human groups (Neanderthals and Denisovans), fitting of f-statistics to such SNP sets is expected to frequently lead to false rejection of true demographic histories, and failure to reject incorrect models. Analyzing panels of SNPs polymorphic in archaic humans, which has been suggested as a solution for the ascertainment problem, has limited statistical power and retains important biases. However, by carrying out simulations of diverse demographic histories, we show that bias in inferences based on f-statistics can be minimized by ascertaining on variants common in a union of diverse African groups; such ascertainment retains high statistical power while allowing co-analysis of archaic and modern groups.


Assuntos
População Africana , Demografia , Filogenia , Polimorfismo de Nucleotídeo Único , Animais , Humanos , População Negra/genética , Mapeamento Cromossômico , Genótipo , Homem de Neandertal/genética , Polimorfismo de Nucleotídeo Único/genética , População Africana/genética , Demografia/história , Variação Biológica da População/genética , Modelos Estatísticos , Viés
18.
Proc Natl Acad Sci U S A ; 120(8): e2207391120, 2023 02 21.
Artigo em Inglês | MEDLINE | ID: mdl-36787355

RESUMO

Traditional substance use (SU) surveillance methods, such as surveys, incur substantial lags. Due to the continuously evolving trends in SU, insights obtained via such methods are often outdated. Social media-based sources have been proposed for obtaining timely insights, but methods leveraging such data cannot typically provide fine-grained statistics about subpopulations, unlike traditional approaches. We address this gap by developing methods for automatically characterizing a large Twitter nonmedical prescription medication use (NPMU) cohort (n = 288,562) in terms of age-group, race, and gender. Our natural language processing and machine learning methods for automated cohort characterization achieved 0.88 precision (95% CI:0.84 to 0.92) for age-group, 0.90 (95% CI: 0.85 to 0.95) for race, and 94% accuracy (95% CI: 92 to 97) for gender, when evaluated against manually annotated gold-standard data. We compared automatically derived statistics for NPMU of tranquilizers, stimulants, and opioids from Twitter with statistics reported in the National Survey on Drug Use and Health (NSDUH) and the National Emergency Department Sample (NEDS). Distributions automatically estimated from Twitter were mostly consistent with the NSDUH [Spearman r: race: 0.98 (P < 0.005); age-group: 0.67 (P < 0.005); gender: 0.66 (P = 0.27)] and NEDS, with 34/65 (52.3%) of the Twitter-based estimates lying within 95% CIs of estimates from the traditional sources. Explainable differences (e.g., overrepresentation of younger people) were found for age-group-related statistics. Our study demonstrates that accurate subpopulation-specific estimates about SU, particularly NPMU, may be automatically derived from Twitter to obtain earlier insights about targeted subpopulations compared to traditional surveillance approaches.


Assuntos
Estimulantes do Sistema Nervoso Central , Mídias Sociais , Transtornos Relacionados ao Uso de Substâncias , Humanos , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Prescrições , Demografia
19.
Mol Biol Evol ; 41(1)2024 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-38152862

RESUMO

The strategic location of North Africa has made the region the core of a wide range of human demographic events, including migrations, bottlenecks, and admixture processes. This has led to a complex and heterogeneous genetic and cultural landscape, which remains poorly studied compared to other world regions. Whole-exome sequencing is particularly relevant to determine the effects of these demographic events on current-day North Africans' genomes, since it allows to focus on those parts of the genome that are more likely to have direct biomedical consequences. Whole-exome sequencing can also be used to assess the effect of recent demography in functional genetic variation and the efficacy of natural selection, a long-lasting debate. In the present work, we use newly generated whole-exome sequencing and genome-wide array genotypes to investigate the effect of demography in functional variation in 7 North African populations, considering both cultural and demographic differences and with a special focus on Amazigh (plur. Imazighen) groups. We detect genetic differences among populations related to their degree of isolation and the presence of bottlenecks in their recent history. We find differences in the functional part of the genome that suggest a relaxation of purifying selection in the more isolated groups, allowing for an increase of putatively damaging variation. Our results also show a shift in mutational load coinciding with major demographic events in the region and reveal differences within and between cultural and geographic groups.


Assuntos
Variação Genética , Genética Populacional , Humanos , População do Norte da África , Genoma , Demografia
20.
Mol Biol Evol ; 41(3)2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38378172

RESUMO

The glacial cycles of the Quaternary heavily impacted species through successions of population contractions and expansions. Similarly, populations have been intensely shaped by human pressures such as unregulated hunting and land use changes. White-tailed and mule deer survived in different refugia through the Last Glacial Maximum, and their populations were severely reduced after the European colonization. Here, we analyzed 73 resequenced deer genomes from across their North American range to understand the consequences of climatic and anthropogenic pressures on deer demographic and adaptive history. We found strong signals of climate-induced vicariance and demographic decline; notably, multiple sequentially Markovian coalescent recovers a severe decline in mainland white-tailed deer effective population size (Ne) at the end of the Last Glacial Maximum. We found robust evidence for colonial overharvest in the form of a recent and dramatic drop in Ne in all analyzed populations. Historical census size and restocking data show a clear parallel to historical Ne estimates, and temporal Ne/Nc ratio shows patterns of conservation concern for mule deer. Signatures of selection highlight genes related to temperature, including a cold receptor previously highlighted in woolly mammoth. We also detected immune genes that we surmise reflect the changing land use patterns in North America. Our study provides a detailed picture of anthropogenic and climatic-induced decline in deer diversity and clues to understanding the conservation concerns of mule deer and the successful demographic recovery of white-tailed deer.


Assuntos
Cervos , Genética Populacional , Humanos , Animais , Cervos/genética , Genômica , Demografia , Equidae
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