Modern-day Populations Research Articles

There and Back Again: The Unexpected Journeys of Metridium de Blainville, 1824 between the Old Oceans and throughout the Modern World.

AbstractMembers of the sea anemone genus Metridium are abundant in temperate rocky habitats and fouling communities. Their biogeographic history is expected to reflect changes in currents and habitats that have influenced benthic communities, such as the climate-influenced changes that occurred during the Last Glacial Maximum. More recently, however, anthropogenic influences such as shipping transportation and the creation of artificial habitat have altered and affected the composition of modern-day marine communities. Here we use sequence-capture data to examine the genetic structure of Metridium across its shallow-water distribution to (1) evaluate species boundaries within Metridium, (2) elucidate the dispersal history of Metridium between and among oceans, and (3) assess the influence of anthropogenic movement on modern-day populations. We find strong evidence for two species within Metridium: M. farcimen and M. senile. Dispersal from the Pacific to the Atlantic included a subsequent isolation of a small population in or above the Bering Sea, which has presumably moved southward. Within the native range of M. senile, admixture is prevalent even between oceans as a result of anthropogenic activities. The nonnative populations in Chile and the Falkland Islands came from at least two distinct introduction events originating from both coasts of the United States in the North Pacific and North Atlantic Oceans. Hybridization between M. senile and M. farcimen is documented as occurring in anthropogenically influenced habitats. The heavy influence from anthropogenic activities will continue to impact our understanding of marine organisms, particularly within the native range and for those that are easily transported across long distances.

GenErode: a bioinformatics pipeline to investigate genome erosion in endangered and extinct species

BackgroundMany wild species have suffered drastic population size declines over the past centuries, which have led to ‘genomic erosion’ processes characterized by reduced genetic diversity, increased inbreeding, and accumulation of harmful mutations. Yet, genomic erosion estimates of modern-day populations often lack concordance with dwindling population sizes and conservation status of threatened species. One way to directly quantify the genomic consequences of population declines is to compare genome-wide data from pre-decline museum samples and modern samples. However, doing so requires computational data processing and analysis tools specifically adapted to comparative analyses of degraded, ancient or historical, DNA data with modern DNA data as well as personnel trained to perform such analyses.ResultsHere, we present a highly flexible, scalable, and modular pipeline to compare patterns of genomic erosion using samples from disparate time periods. The GenErode pipeline uses state-of-the-art bioinformatics tools to simultaneously process whole-genome re-sequencing data from ancient/historical and modern samples, and to produce comparable estimates of several genomic erosion indices. No programming knowledge is required to run the pipeline and all bioinformatic steps are well-documented, making the pipeline accessible to users with different backgrounds. GenErode is written in Snakemake and Python3 and uses Conda and Singularity containers to achieve reproducibility on high-performance compute clusters. The source code is freely available on GitHub (https://github.com/NBISweden/GenErode).ConclusionsGenErode is a user-friendly and reproducible pipeline that enables the standardization of genomic erosion indices from temporally sampled whole genome re-sequencing data.

Enamel growth rate variation of inner, mid, and outer enamel regions between select permanent tooth types across five temporally distinct British samples

ObjectiveThis study explored differences in the regional daily growth rates of human enamel between tooth types across a temporal transect in Britain. MethodsUpper permanent central incisors (n = 81), upper permanent canines (n = 69), and upper and lower permanent first molars (n = 115) from Roman, Pre-Medieval, Medieval, and Modern day populations were analysed using histological methods. Daily secretion rates (DSRs) were collected for inner, mid, and outer regions of cuspal and lateral enamel for each tooth type and temporal sample. Variation in DSRs between the tooth types, within each population, was sought using Welch’s tests. ResultsNumerous significant differences were observed in DSRs between equivalent enamel regions of different tooth types. The majority of differences were observed between molars and the anterior teeth, but there were no obvious trends as to which typically grew faster/slower, nor was there any consistency across the temporal samples. In contrast, comparisons between incisors and canines yielded minimal differences and variation, when significant, was found to be enamel area- and sample-specific. ConclusionsThis study presents evidence for a high level of variation in DSRs between anterior teeth and first molars of the permanent dentition. This variation appears sporadic with no clear trend outside of anterior tooth comparisons, where analyses of the Late Pre-Medieval and Modern-day populations highlight how DSRs within cuspal and lateral enamel can vary independently.

Interpopulational variation in human brain size: implications for hominin cognitive phylogeny

Throughout the hominin lineage brain size is believed to have increased threefold – increase which, it is argued by some researchers, results in the enhanced brain power that distinguishes humans from any other living being. However, as we demonstrate in this article this supposed increase is the result of comparing the species mean of contemporary humans with other great apes and fossil hominins. This method obscures both interpopulational variation among modern humans, and the fact that the putative increases in the mean are the result of an increase in the upper limit in some populations, which has the result of obscuring the relative stasis in the lower limit over the last 600k years. For example, populations such as Aboriginal Australians have a range that is more different from Danes than it is from that of Asian H. erectus over the last 600ka. Yet Aboriginal Australians, whose unique anatomy seems to be related to the climatic conditions of Australia, possess all of the socio-cognitive traits characteristic of all other modern-day populations – yet they seemed not to have undergone increase in brain size to the degree that many other populations have. In this instance brain size seems to be unrelated to cognition. In this article we present a statistical analysis of interpopulational variation in contemporary humans and why such an analysis is crucial for our understanding of hominin cognitive, social and technological evolution. We also suggest how such variation may add to our understanding of hominin ontogeny or life history. Additionally, we develop a model based on humanity’s unique form of embodied social cognition that results from our upright bipedal posture and hand morphology. This model is then used to explain the results of our statistical analysis and the possible factors underpinning the human emergence.

Enamel daily secretion rates of deciduous molars from a global sample of children

ObjectiveTo investigate and describe the variation in enamel daily secretion rates (DSRs) of naturally exfoliated deciduous molars (n = 345) from five modern-day populations (Aotearoa New Zealand, Britain, Canada, France, and Sweden). DesignEach tooth was thin sectioned and examined using a high-powered Olympus BX51 microscope and DP25 digital microscope camera. Mean DSRs were recorded for the inner, mid, and outer regions of cuspal and lateral enamel, excluding enamel nearest the enamel-dentin junction and at the outermost crown surface. ResultsMean DSRs did not vary significantly between populations, or by sex. Cuspal enamel grew slightly faster than lateral enamel (mean difference 0.16 µm per day; p < 0.001). The trajectory of DSRs remained relatively constant from inner to outer cuspal enamel and increased slightly in lateral enamel (p = 0.003). ConclusionsThe DSRs of deciduous molars from modern-day children are remarkably consistent when compared among populations. While growth rates are faster in cuspal than lateral enamel, the trajectory of enamel formation changes only slightly from inner to outer regions. The trajectory of DSRs for deciduous molars differs to that of permanent molar enamel, which typically display a steep increase in matrix deposition from inner to outer enamel.

Evaluating the Impact of Sex-Biased Genetic Admixture in the Americas through the Analysis of Haplotype Data.

A general imbalance in the proportion of disembarked males and females in the Americas has been documented during the Trans-Atlantic Slave Trade and the Colonial Era and, although less prominent, more recently. This imbalance may have left a signature on the genomes of modern-day populations characterised by high levels of admixture. The analysis of the uniparental systems and the evaluation of continental proportion ratio of autosomal and X chromosomes revealed a general sex imbalance towards males for European and females for African and Indigenous American ancestries. However, the consistency and degree of this imbalance are variable, suggesting that other factors, such as cultural and social practices, may have played a role in shaping it. Moreover, very few investigations have evaluated the sex imbalance using haplotype data, containing more critical information than genotypes. Here, we analysed genome-wide data for more than 5000 admixed American individuals to assess the presence, direction and magnitude of sex-biased admixture in the Americas. For this purpose, we applied two haplotype-based approaches, ELAI and NNLS, and we compared them with a genotype-based method, ADMIXTURE. In doing so, besides a general agreement between methods, we unravelled that the post-colonial admixture dynamics show higher complexity than previously described.

Projecting Ancient Ancestry in Modern-Day Arabians and Iranians: A Key Role of the Past Exposed Arabo-Persian Gulf on Human Migrations.

The Arabian Peninsula is strategic for investigations centered on the early structuring of modern humans in the wake of the out-of-Africa migration. Despite its poor climatic conditions for the recovery of ancient human DNA evidence, the availability of both genomic data from neighboring ancient specimens and informative statistical tools allow modeling the ancestry of local modern populations. We applied this approach to a data set of 741,000 variants screened in 291 Arabians and 78 Iranians, and obtained insightful evidence. The west-east axis was a strong forcer of population structure in the Peninsula, and, more importantly, there were clear continuums throughout time linking western Arabia with the Levant, and eastern Arabia with Iran and the Caucasus. Eastern Arabians also displayed the highest levels of the basal Eurasian lineage of all tested modern-day populations, a signal that was maintained even after correcting for a possible bias due to a recent sub-Saharan African input in their genomes. Not surprisingly, eastern Arabians were also the ones with highest similarity with Iberomaurusians, who were, so far, the best proxy for the basal Eurasians amongst the known ancient specimens. The basal Eurasian lineage is the signature of ancient non-Africans who diverged from the common European-eastern Asian pool before 50,000 years ago, prior to the later interbred with Neanderthals. Our results appear to indicate that the exposed basin of the Arabo-Persian Gulf was the possible home of basal Eurasians, a scenario to be further investigated by searching ancient Arabian human specimens.

Evolutionary rescue via transgenerational plasticity: Evidence and implications for conservation

When a population experiences severe stress from a changing environment, evolution by natural selection can prevent its extinction, a process dubbed "evolutionary rescue." However, evolution may be unable to track the sort of rapid environmental change being experienced by many modern-day populations. A potential solution is for organisms to respond to environmental change through phenotypic plasticity, which can buffer populations against change and thereby buy time for evolutionary rescue. In this review, we examine whether this process extends to situations in which the environmentally induced response is passed to offspring. As we describe, theoretical and empirical studies suggest that such "transgenerational plasticity" can increase population persistence. We discuss the implications of this process for conservation biology, outline potential limitations, and describe some applications. Generally, transgenerational plasticity may be effective at buying time for evolutionary rescue to occur.

The story of the lost twins: decoding the genetic identities of the Kumhar and Kurcha populations from the Indian subcontinent

BackgroundThe population structure of the Indian subcontinent is a tapestry of extraordinary diversity characterized by the amalgamation of autochthonous and immigrant ancestries and rigid enforcement of sociocultural stratification. Here we investigated the genetic origin and population history of the Kumhars, a group of people who inhabit large parts of northern India. We compared 27 previously published Kumhar SNP genotype data sampled from Uttar Pradesh in north India to various modern day and ancient populations.ResultsVarious approaches such as Principal Component Analysis (PCA), Admixture, TreeMix concurred that Kumhars have high ASI ancestry, minimal Steppe component and high genomic proximity to the Kurchas, a small and relatively little-known population found ~ 2500 km away in Kerala, south India. Given the same, biogeographical mapping using Geographic Population Structure (GPS) assigned most Kumhar samples in areas neighboring to those where Kurchas are found in south India.ConclusionsWe hypothesize that the significant genomic similarity between two apparently distinct modern-day Indian populations that inhabit well separated geographical areas with no known overlapping history or links, likely alludes to their common origin during or post the decline of the Indus Valley Civilization (estimated by ALDER). Thereafter, while they dispersed towards opposite ends of the Indian subcontinent, their genomic integrity and likeness remained preserved due to endogamous social practices. Our findings illuminate the genomic history of two Indian populations, allowing a glimpse into one or few of numerous of human migrations that likely occurred across the Indian subcontinent and contributed to shape its varied and vibrant evolutionary past.

A genetic history of China

Human Evolution The history of human movements into and within China has been difficult to determine solely from archaeological investigations or genetic studies of contemporary peoples. Yang et al. sequenced DNA from 26 individuals from 9500 to 300 years ago from locations within China. Analyses of these individuals, along with previously sequenced ancient individuals and present-day genomes representing global populations, show a split between ancient humans in northern and southern China. Neolithic northern Chinese individuals are closest to modern-day East Asians, whereas ancient individuals from southern China are most closely related to modern-day Southeast Asians and show an affinity to modern-day Austronesian populations. These results indicate that there was a southward movement and admixture of peoples during the Neolithic that gave rise to modern-day populations in East Asia. Science this issue p. [282][1] [1]: /lookup/doi/10.1126/science.aba0909

Ancient DNA indicates human population shifts and admixture in northern and southern China.

Human genetic history in East Asia is poorly understood. To clarify population relationships, we obtained genome-wide data from 26 ancient individuals from northern and southern East Asia spanning 9500 to 300 years ago. Genetic differentiation in this region was higher in the past than the present, which reflects a major episode of admixture involving northern East Asian ancestry spreading across southern East Asia after the Neolithic, thereby transforming the genetic ancestry of southern China. Mainland southern East Asian and Taiwan Strait island samples from the Neolithic show clear connections with modern and ancient individuals with Austronesian-related ancestry, which supports an origin in southern China for proto-Austronesians. Connections among Neolithic coastal groups from Siberia and Japan to Vietnam indicate that migration and gene flow played an important role in the prehistory of coastal Asia.

How genetic adaption can backfire for modern-day populations

How genetic adaption can backfire for modern-day populations

Using hominin introgression to trace modern human dispersals

The dispersal of anatomically modern human populations out of Africa and across much of the rest of the world around 55 to 50 thousand years before present (ka) is recorded genetically by the multiple hominin groups they met and interbred with along the way, including the Neandertals and Denisovans. The signatures of these introgression events remain preserved in the genomes of modern-day populations, and provide a powerful record of the sequence and timing of these early migrations, with Asia proving a particularly complex area. At least 3 different hominin groups appear to have been involved in Asia, of which only the Denisovans are currently known. Several interbreeding events are inferred to have taken place east of Wallace’s Line, consistent with archaeological evidence of widespread and early hominin presence in the area. However, archaeological and fossil evidence indicates archaic hominins had not spread as far as the Sahul continent (New Guinea, Australia, and Tasmania), where recent genetic evidence remains enigmatic.

Ancient Ancestry Informative Markers for Identifying Fine-Scale Ancient Population Structure in Eurasians.

The rapid accumulation of ancient human genomes from various areas and time periods potentially enables the expansion of studies of biodiversity, biogeography, forensics, population history, and epidemiology into past populations. However, most ancient DNA (aDNA) data were generated through microarrays designed for modern-day populations, which are known to misrepresent the population structure. Past studies addressed these problems by using ancestry informative markers (AIMs). It is, however, unclear whether AIMs derived from contemporary human genomes can capture ancient population structures, and whether AIM-finding methods are applicable to aDNA. Further the high missingness rates in ancient—and oftentimes haploid—DNA can also distort the population structure. Here, we define ancient AIMs (aAIMs) and develop a framework to evaluate established and novel AIM-finding methods in identifying the most informative markers. We show that aAIMs identified by a novel principal component analysis (PCA)-based method outperform all of the competing methods in classifying ancient individuals into populations and identifying admixed individuals. In some cases, predictions made using the aAIMs were more accurate than those made with a complete marker set. We discuss the features of the ancient Eurasian population structure and strategies to identify aAIMs. This work informs the design of single nucleotide polymorphism (SNP) microarrays and the interpretation of aDNA results, which enables a population-wide testing of primordialist theories.

Founder effects in modern populations

Human Evolution The genomes of ancient humans can reveal patterns of early human migration (see the Perspective by Achilli et al. ). Iceland has a genetically distinct population, despite relatively recent settlement (∼1100 years ago). Ebenesersdottir et al. examined the genomes of ancient Icelandic people, dating to near the colonization of Iceland, and compared them with modern-day Icelandic populations. The ancient DNA revealed that the founders had Gaelic and Norse origins. Genetic drift since the initial settlement has left modern Icelanders with allele frequencies that are distinctive, although still skewed toward those of their Norse founders. Scheib et al. sequenced ancient genomes from the Channel Islands of California, USA, and Ontario, Canada. The ancient Ontario population was similar to other ancient North Americans, as well as to modern Algonquian-speaking Native Americans. In contrast, the California individuals were more like groups that now live in Mexico and South America. It appears that a genetic split and population isolation likely occurred during the Ice Age, but the peoples remixed at a later date. Science , this issue p. [1028][1], p. [1024][2]; see also p. [964][3] [1]: /lookup/doi/10.1126/science.aar2625 [2]: /lookup/doi/10.1126/science.aar6851 [3]: /lookup/doi/10.1126/science.aat7257

Four millennia of Iberian biomolecular prehistory illustrate the impact of prehistoric migrations at the far end of Eurasia

Population genomic studies of ancient human remains have shown how modern-day European population structure has been shaped by a number of prehistoric migrations. The Neolithization of Europe has been associated with large-scale migrations from Anatolia, which was followed by migrations of herders from the Pontic steppe at the onset of the Bronze Age. Southwestern Europe was one of the last parts of the continent reached by these migrations, and modern-day populations from this region show intriguing similarities to the initial Neolithic migrants. Partly due to climatic conditions that are unfavorable for DNA preservation, regional studies on the Mediterranean remain challenging. Here, we present genome-wide sequence data from 13 individuals combined with stable isotope analysis from the north and south of Iberia covering a four-millennial temporal transect (7,500-3,500 BP). Early Iberian farmers and Early Central European farmers exhibit significant genetic differences, suggesting two independent fronts of the Neolithic expansion. The first Neolithic migrants that arrived in Iberia had low levels of genetic diversity, potentially reflecting a small number of individuals; this diversity gradually increased over time from mixing with local hunter-gatherers and potential population expansion. The impact of post-Neolithic migrations on Iberia was much smaller than for the rest of the continent, showing little external influence from the Neolithic to the Bronze Age. Paleodietary reconstruction shows that these populations have a remarkable degree of dietary homogeneity across space and time, suggesting a strong reliance on terrestrial food resources despite changing culture and genetic make-up.

Archaeogenetics of Late Iron Age Çemialo Sırtı, Batman: Investigating maternal genetic continuity in north Mesopotamia since the Neolithic.

North Mesopotamia has witnessed dramatic social change during the Holocene, but the impact of these events on its demographic history is poorly understood. Here, we study this question by analysing genetic data from the recently excavated Late Iron Age settlement of Çemialo Sırtı in Batman, southeast Turkey. Archaeological and radiocarbon evidence indicate that the site was inhabited during the second and first millennia BCE. Çemialo Sırtı reveals nomadic items of the Early Iron Age, as well as items associated with the Late Achaemenid and subsequent Hellenistic Periods. We compare Çemialo Sırtı mitochondrial DNA profiles with earlier and later populations from west Eurasia to describe genetic continuity patterns in the region. A total of 16 Çemialo Sırtı individuals' remains were studied. PCR and Sanger sequencing were used to obtain mitochondrial DNA HVRI-HVRII sequences. We studied haplotype diversity and pairwise genetic distances using FST , comparing the Çemialo Sırtı population with ancient and modern-day populations from west Eurasia. Coalescent simulations were carried out to test continuity for specific population comparisons. Mitochondrial DNA (mtDNA) haplotypes from 12 Çemialo Sırtı individuals reveal high haplotype diversity in this population, conspicuously higher than early Holocene west Eurasian populations, which supports the notion of increasing population admixture in west Eurasia through the Holocene. In its mtDNA composition, Çemialo Sırtı shows highest affinity to Neolithic north Syria and Neolithic Anatolia among ancient populations studied, and to modern-day southwest Asian populations. Based on population genetic simulations we cannot reject continuity between Neolithic and Iron Age, or between Iron Age and present-day populations of the region. Despite the region's complex sociopolitical history and indication for increased genetic diversity over time, we find no evidence for sharp shifts in north Mesopotamian maternal genetic composition within the last 10,000 years.

Routes and determinants of leaving home: the city of Gothenburg, 1915–1943

This paper deals with the home-leaving of young adults in Gothenburg, Sweden, in the period 1915–1943. We used individual-level panel data from population registers and poll-tax records, taking a competing risk design for the analysis of the determinants of leaving home to marry, or for non-familial living. We found a transitional, marriage-driven pattern of leaving home that neither fits the old context of life cycle service, nor the alternative modern routes out of the parental home into unmarried householdship. Young adults typically stayed at home until they married, although some moved out to temporary non-familial living first. Non-familial living consisted mainly of lodging in another household, but working outside it, which in a way was a forerunner of the modern pattern, in sharp contrast with the remnant of preindustrial times: the flow from rural areas into Gothenburg of teenage women immigrants to become residential domestic servants. Interestingly, we found that the main determinants of home-leaving in studies of modern-day populations were equally important in the population of Gothenburg in 1915–1943. For both young men and young women, having their own resources (employment, earnings) was positively associated with the likelihood of leaving the parental home. We also found clear gender differences. A higher level of human capital of the father was associated with later home-leaving to marry for sons, and earlier leaving for non-familial living for daughters. Lower levels of household income, or the presence of minor siblings or a widowed parent were push factors for non-familial living for daughters. We found no similar push factors for sons.

Effect of APOE ε4 allele on survival and fertility in an adverse environment.

BackgroundThe apolipoprotein-ε4 allele (APOE-ε4) is strongly associated with detrimental outcomes in affluent populations including atherosclerotic disease, Alzheimer’s disease, and reduced lifespan. Despite these detrimental outcomes, population frequencies of APOE-ε4 are high. We hypothesize that the high frequency of APOE-ε4 was maintained because of beneficial effects during evolution when infectious pathogens were more prevalent and a major cause of mortality. We examined a rural Ghanaian population with a high pathogen exposure for selective advantages of APOE-ε4, to survival and or fertility.Methods and findingsThis rural Ghanaian population (n = 4311) has high levels of mortality from widespread infectious diseases which are the main cause of death. We examined whether APOE-ε4 was associated with survival (total follow-up time was 30,262 years) and fertility after stratifying by exposure to high or low pathogen levels. Households drawing water from open wells and rivers were classified as exposed to high pathogen levels while low pathogen exposure was classified as those drawing water from borehole wells. We found a non-significant, but positive survival benefit, i.e. the hazard ratio per APOE-ε4 allele was 0.80 (95% confidence interval: 0.69 to 1.05), adjusted for sex, tribe, and socioeconomic status. Among women aged 40 years and older (n = 842), APOE-ε4 was not associated with the lifetime number of children. However, APOE-ε4 was associated with higher fertility in women exposed to high pathogen levels. Compared with women not carrying an APOE-ε4 allele, those carrying one APOE-ε4 allele had on average one more child and those carrying two APOE-ε4 alleles had 3.5 more children (p = 0.018).ConclusionsContrary to affluent modern-day populations, APOE-ε4 did not carry a survival disadvantage in this rural Ghanaian population. Moreover, APOE-ε4 promotes fertility in highly infectious environments. Our findings suggest that APOE-ε4 may be considered as evolutionarily adaptive. Its adverse associations in affluent modern populations with later onset diseases of aging further characterize APOE-ε4 as an example of antagonistic pleiotropy.

An earlier revolution: genetic and genomic analyses reveal pre-existing cultural differences leading to Neolithization

Archaeological evidence shows that, in the long run, Neolitization (the transition from foraging to food production) was associated with demographic growth. We used two methods (patterns of linkage disequilibrium from whole-genome SNPs and MSMC estimates on genomes) to reconstruct the demographic profiles for respectively 64 and 24 modern-day populations with contrasting lifestyles across the Old World (sub-Saharan Africa, south-eastern Asia, Siberia). Surprisingly, in all regions, food producers had larger effective population sizes (Ne) than foragers already 20 k years ago, well before the Neolithic revolution. As expected, this difference further increased ~12–10 k years ago, around or just before the onset of food production. Using paleoclimate reconstructions, we show that the early difference in Ne cannot be explained by food producers inhabiting more favorable regions. A number of mechanisms, including ancestral differences in census size, sedentism, exploitation of the natural resources, social stratification or connectivity between groups, might have led to the early differences in Ne detected in our analyses. Irrespective of the specific mechanisms involved, our results provide further evidence that long term cultural differences among populations of Palaeolithic hunter-gatherers are likely to have played an important role in the later Neolithization process.