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1.
Evol Appl ; 17(7): e13739, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38948538

ABSTRACT

The Seychelles magpie-robin's (SMR) five island populations exhibit some of the lowest recorded levels of genetic diversity among endangered birds, and high levels of inbreeding. These populations collapsed during the 20th century, and the species was listed as Critically Endangered in the IUCN Red List in 1994. An assisted translocation-for-recovery program initiated in the 1990s increased the number of mature individuals, resulting in its downlisting to Endangered in 2005. Here, we explore the temporal genomic erosion of the SMR based on a dataset of 201 re-sequenced whole genomes that span the past ~150 years. Our sample set includes individuals that predate the bottleneck by up to 100 years, as well as individuals from contemporary populations established during the species recovery program. Despite the SMR's recent demographic recovery, our data reveal a marked increase in both the genetic load and realized load in the extant populations when compared to the historical samples. Conservation management may have reduced the intensity of selection by increasing juvenile survival and relaxing intraspecific competition between individuals, resulting in the accumulation of loss-of-function mutations (i.e. severely deleterious variants) in the rapidly recovering population. In addition, we found a 3-fold decrease in genetic diversity between temporal samples. While the low genetic diversity in modern populations may limit the species' adaptability to future environmental changes, future conservation efforts (including IUCN assessments) may also need to assess the threats posed by their high genetic load. Our computer simulations highlight the value of translocations for genetic rescue and show how this could halt genomic erosion in threatened species such as the SMR.

2.
Cell ; 2024 Jun 17.
Article in English | MEDLINE | ID: mdl-38942016

ABSTRACT

A number of species have recently recovered from near-extinction. Although these species have avoided the immediate extinction threat, their long-term viability remains precarious due to the potential genetic consequences of population declines, which are poorly understood on a timescale beyond a few generations. Woolly mammoths (Mammuthus primigenius) became isolated on Wrangel Island around 10,000 years ago and persisted for over 200 generations before becoming extinct around 4,000 years ago. To study the evolutionary processes leading up to the mammoths' extinction, we analyzed 21 Siberian woolly mammoth genomes. Our results show that the population recovered quickly from a severe bottleneck and remained demographically stable during the ensuing six millennia. We find that mildly deleterious mutations gradually accumulated, whereas highly deleterious mutations were purged, suggesting ongoing inbreeding depression that lasted for hundreds of generations. The time-lag between demographic and genetic recovery has wide-ranging implications for conservation management of recently bottlenecked populations.

3.
Mol Ecol Resour ; : e13967, 2024 May 10.
Article in English | MEDLINE | ID: mdl-38727721

ABSTRACT

Zoo populations of threatened species are a valuable resource for the restoration of wild populations. However, their small effective population size poses a risk to long-term viability, especially in species with high genetic load. Recent bioinformatic developments can identify harmful genetic variants in genome data. Here, we advance this approach, analysing the genetic load in the threatened pink pigeon (Nesoenas mayeri). We lifted the mutation-impact scores that had been calculated for the chicken (Gallus gallus) to estimate the genetic load in six pink pigeons. Additionally, we perform in silico crossings to predict the genetic load and realized load of potential offspring. We thus identify the optimal mate pairs that are theoretically expected to produce offspring with the least inbreeding depression. We use computer simulations to show how genomics-informed conservation can reduce the genetic load whilst reducing the loss of genome-wide diversity. Genomics-informed management is likely to become instrumental in maintaining the long-term viability of zoo populations.

4.
Mol Biol Evol ; 40(12)2023 Dec 01.
Article in English | MEDLINE | ID: mdl-37995319

ABSTRACT

High genetic diversity is a good predictor of long-term population viability, yet some species persevere despite having low genetic diversity. Here we study the genomic erosion of the Seychelles paradise flycatcher (Terpsiphone corvina), a species that narrowly avoided extinction after having declined to 28 individuals in the 1960s. The species recovered unassisted to over 250 individuals in the 1990s and was downlisted from Critically Endangered to Vulnerable in the International Union for the Conservation of Nature Red List in 2020. By comparing historical, prebottleneck (130+ years old) and modern genomes, we uncovered a 10-fold loss of genetic diversity. Highly deleterious mutations were partly purged during the bottleneck, but mildly deleterious mutations accumulated. The genome shows signs of historical inbreeding during the bottleneck in the 1960s, but low levels of recent inbreeding after demographic recovery. Computer simulations suggest that the species long-term small Ne reduced the masked genetic load and made the species more resilient to inbreeding and extinction. However, the reduction in genetic diversity due to the chronically small Ne and the severe bottleneck is likely to have reduced the species adaptive potential to face environmental change, which together with a higher load, compromises its long-term population viability. Thus, small ancestral Ne offers short-term bottleneck resilience but hampers long-term adaptability to environmental shifts. In light of rapid global rates of population decline, our work shows that species can continue to suffer the effect of their decline even after recovery, highlighting the importance of considering genomic erosion and computer modeling in conservation assessments.


Subject(s)
Endangered Species , Genetic Variation , Humans , Animals , Genetic Load , Inbreeding , Birds/genetics
5.
Mol Ecol Resour ; 23(7): 1737-1755, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37475177

ABSTRACT

Next-generation sequencing of pooled samples (Pool-seq) is a popular method to assess genome-wide diversity patterns in natural and experimental populations. However, Pool-seq is associated with specific sources of noise, such as unequal individual contributions. Consequently, using Pool-seq for the reconstruction of evolutionary history has remained underexplored. Here we describe a novel Approximate Bayesian Computation (ABC) method to infer demographic history, explicitly modelling Pool-seq sources of error. By jointly modelling Pool-seq data, demographic history and the effects of selection due to barrier loci, we obtain estimates of demographic history parameters accounting for technical errors associated with Pool-seq. Our ABC approach is computationally efficient as it relies on simulating subsets of loci (rather than the whole-genome) and on using relative summary statistics and relative model parameters. Our simulation study results indicate Pool-seq data allows distinction between general scenarios of ecotype formation (single versus parallel origin) and to infer relevant demographic parameters (e.g. effective sizes and split times). We exemplify the application of our method to Pool-seq data from the rocky-shore gastropod Littorina saxatilis, sampled on a narrow geographical scale at two Swedish locations where two ecotypes (Wave and Crab) are found. Our model choice and parameter estimates show that ecotypes formed before colonization of the two locations (i.e. single origin) and are maintained despite gene flow. These results indicate that demographic modelling and inference can be successful based on pool-sequencing using ABC, contributing to the development of suitable null models that allow for a better understanding of the genetic basis of divergent adaptation.


Subject(s)
Ecotype , Genetics, Population , Bayes Theorem , Genome , Demography
6.
Eur J Pediatr ; 182(9): 4213-4226, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37452845

ABSTRACT

Prenatal anxiety and depression in pandemic context could introduce changes in the fetal developmental trajectories that, ultimately, could alter the adaptive behaviors of the offspring, potentially affecting, for example, general neurodevelopment. The sample consisted of 105 mother-child dyads, recruited between March and May 2020. The dyads were evaluated longitudinally, prenatally and postnatally (6 months). The Pandemic Impact Questionnaire, the State-Trait Anxiety Inventory, and the Beck-II Depression Inventory were used to assess indicators of maternal anxiety and depression, respectively. Regarding the babies, their mothers responded to Age and Stages: 3, which assesses different dimensions of early neurodevelopment, in addition to a closed questionnaire to identify sociodemographic and maternal and child health variables. A series of mediation models were tested to examine the association between prenatal psychopathology/negative experiences of the pandemic and neurodevelopment. The results indicated that the negative experiences of the pandemic were indirectly associated with the socio-individual and fine motor neurodevelopment of the offspring, through maternal anxiety symptoms, during the third trimester, which functioned as a mediator.  Conclusions: This study provides evidence on the mediating effects of maternal anxiety on infant neurodevelopment in contexts of early adversity. It is important to point out the need to implement public health policies that allow a timely evaluation of neurodevelopmental variables during early childhood, which can implement early interventions to reduce the risks associated with these deficits. What is Known: • Effects of maternal mental health have been reported, effects on child neurodevelopment, in motor, cognitive, linguistic and socio-emotional dimensions. • Contexts of early adversity have been associated with maternal mental health and offspring development. What is New: • The context of pandemic adversity caused by COVID-19 is associated with motor and socio-individual neurodevelopment, mediated by maternal prenatal anxiety.

7.
Trends Ecol Evol ; 38(10): 961-969, 2023 10.
Article in English | MEDLINE | ID: mdl-37344276

ABSTRACT

Our ability to assess the threat posed by the genetic load to small and declining populations has been greatly improved by advances in genome sequencing and computational approaches. Yet, considerable confusion remains around the definitions of the genetic load and its dynamics, and how they impact individual fitness and population viability. We illustrate how both selective purging and drift affect the distribution of deleterious mutations during population size decline and recovery. We show how this impacts the composition of the genetic load, and how this affects the extinction risk and recovery potential of populations. We propose a framework to examine load dynamics and advocate for the introduction of load estimates in the management of endangered populations.


Subject(s)
Genetic Load , Genetics, Population , Population Density , Inbreeding , Genetic Variation
8.
Mol Syst Biol ; 19(8): e11686, 2023 08 08.
Article in English | MEDLINE | ID: mdl-37325891

ABSTRACT

The ongoing degradation of natural systems and other environmental changes has put our society at a crossroad with respect to our future relationship with our planet. While the concept of One Health describes how human health is inextricably linked with environmental health, many of these complex interdependencies are still not well-understood. Here, we describe how the advent of real-time genomic analyses can benefit One Health and how it can enable timely, in-depth ecosystem health assessments. We introduce nanopore sequencing as the only disruptive technology that currently allows for real-time genomic analyses and that is already being used worldwide to improve the accessibility and versatility of genomic sequencing. We showcase real-time genomic studies on zoonotic disease, food security, environmental microbiome, emerging pathogens, and their antimicrobial resistances, and on environmental health itself - from genomic resource creation for wildlife conservation to the monitoring of biodiversity, invasive species, and wildlife trafficking. We stress why equitable access to real-time genomics in the context of One Health will be paramount and discuss related practical, legal, and ethical limitations.


Subject(s)
Ecosystem , One Health , Humans , Genomics , Biodiversity , Genome
9.
Mol Phylogenet Evol ; 182: 107757, 2023 05.
Article in English | MEDLINE | ID: mdl-36925090

ABSTRACT

The progressive aridification of the Australian continent from âˆ¼ 20 million years ago posed severe challenges for the persistence of its resident biota. A key question involves the role of refugial habitats - specifically, their ability to mediate the effects of habitat loss and fragmentation, and their potential to shape opportunities for allopatric speciation. With freshwater species, for example, the patchiness, or absence, of water will constrain distributions. However, aridity may not necessarily isolate populations if disjunct refugia experience frequent hydrological connections. To investigate this potential dichotomy, we explored the evolutionary history of the Chlamydogobius gobies (Gobiiformes: Gobiidae), an arid-adapted genus of six small, benthic fish species that exploit all types of waterbodies (i.e. desert springs, waterholes and bore-fed wetlands, coastal estuarine creeks and mangroves) across parts of central and northern Australia. We used Anchored Phylogenomics to generate a highly resolved phylogeny of the group from sequence data for 260 nuclear loci. Buttressed by companion allozyme and mtDNA datasets, our molecular findings infer the diversification of Chlamydogobius in arid Australia, and provide a phylogenetic structure that cannot be simply explained by invoking allopatric speciation events reflecting current geographic proximity. Our findings are generally consistent with the existing morphological delimitation of species, with one exception: at the shallowest nodes of phylogenetic reconstruction, the molecular data do not fully support the current dichotomous delineation of C. japalpa from C. eremius in Kati Thanda-Lake Eyre-associated waterbodies. Together these findings illustrate the ability of structural (hydrological) connections to generate patterns of connectivity and isolation for an ecologically moderate disperser in response to ongoing habitat aridification. Finally, we explore the implications of these results for the immediate management of threatened (C. gloveri) and critically endangered (C. micropterus, C. squamigenus) congeners.


Subject(s)
Biological Evolution , Perciformes , Animals , Phylogeny , Australia , Fishes/genetics , Ecosystem , Perciformes/genetics , DNA, Mitochondrial/genetics
10.
J Appl Dev Psychol ; 86: 101517, 2023.
Article in English | MEDLINE | ID: mdl-36748034

ABSTRACT

The COVID-19 pandemic context may predispose mothers to increased maternal psychopathology, which may be associated with offspring socioemotional development. The aim of this study is to analyze the relationships between prenatal anxiety and depression and exposure to the COVID-19 pandemic with offspring socioemotional development, controlling for postnatal anxiety and depression. A total of 105 mother-child dyads were assessed in pre- and postnatal periods. Questionnaires were used to assess the impact of the pandemic, indicators of psychopathology, and the socioemotional development of the offspring. Results suggest that negative pandemic experiences are indirectly associated with offspring socioemotional development via prenatal maternal anxiety symptomatology and after controlling for postnatal anxiety and depression. These indicators predispose to emotional deficits and increase the risks of psychopathological and neurodevelopmental disorders. It is important to adopt health policies that provide timely assessment of development in early childhood to reduce the risks associated with these deficits.

11.
Curr Psychol ; : 1-14, 2023 Jan 17.
Article in English | MEDLINE | ID: mdl-36684455

ABSTRACT

Traditionally, the selection process of teacher candidates has emphasized the assessment of subject matter and pedagogical knowledge using psychometric methodologies, which simply organize candidates in continuous scales and require a large number of samples. However, these methods do not allow for the identification of candidates' knowledge profiles and learning paths, which would help develop programs tailored to support students in their training process. In this study, an evaluation instrument was developed by using the nonparametric approach to model diagnostic classifications and was then validated on a sample of 119 participants. This instrument allows for disaggregating candidates' initial knowledge and establishing relationships between its components. The results showed that candidates present a variety of profiles, which may consider more than one attribute. Not only does it provide a score that can be used for selection processes, it also provides useful information for initial teacher training methods.

12.
Curr Psychol ; : 1-13, 2022 Nov 19.
Article in English | MEDLINE | ID: mdl-36437907

ABSTRACT

The COVID-19 pandemic may configure an adverse prenatal context for early development. The aim of this study was to analyze the effects of pandemic-related negative experiences, prenatal anxiety and depression on the temperament of six-month-old babies. The sample consisted of 105 mother-child dyads. A longitudinal evaluation was carried out using pre- and postnatal online surveys. Mothers completed the State-Trait Anxiety Inventory, the Beck Depression Inventory - II, the Pandemic Impact Questionnaire and the Infant Behavior Questionnaire Revised. Serial mediation models were tested, in which the pandemic-related negative experiences constituted the independent variable, the prenatal anxiety and depression were the mediators, and the children's temperament dimensions were the dependent variables. Pandemic-related negative experiences were indirectly associated with the offspring's negative affect and surgency through anxious symptomatology, which acted as a mediating variable. This was the first study to identify the effects of the COVID-19 pandemic on temperament. Such an adverse context implies risks for child development. Public health policies aiming to evaluate socioemotional variables during early childhood become necessary to allow on-time interventions for lessening these risks.

13.
Med Eng Phys ; 107: 103873, 2022 09.
Article in English | MEDLINE | ID: mdl-36068045

ABSTRACT

Magnetic resonance imaging (MRI) is the preferred modality to assess hemodynamics in healthy and diseased blood vessels. As an affordable and non-invasive alternative, Color-Doppler imaging is a good candidate. Nevertheless, Color-Doppler acquisitions provide only partial information on the blood velocity within the vessel. We present a framework to reconstruct 2D velocity fields in the aorta. We generated 2D Color-Doppler-like images from patient-specific Computational Fluid Dynamics (CFD) models of abdominal aortas and evaluated the framework's performance. The 2D velocity field reconstruction is based on the minimization of a cost function, in which the reconstructed velocities are constrained to satisfy fluid dynamics principles. The numerical evaluations show that the reconstructed vector flow fields agree with ground-truth velocities, with an average magnitude error of less than 4% and an average angular error of less than 2∘. We lastly illustrate the 2D velocity field reconstructed from in-vivo Color-Doppler data. Observing the hemodynamics in patients is expected to have a clinical impact in assessing disease development and progression, such as abdominal aortic aneurysms.


Subject(s)
Aorta, Abdominal , Hemodynamics , Aorta, Abdominal/diagnostic imaging , Blood Flow Velocity , Humans , Hydrodynamics , Ultrasonography, Doppler
14.
Stress Health ; 38(5): 1070-1079, 2022 Dec.
Article in English | MEDLINE | ID: mdl-35574626

ABSTRACT

The COVID-19 pandemic has radically changed daily life and the way we interact with others. It has also brought negative psychological consequences: several studies have reported increased levels of distress symptomatology at the onset of the pandemic. However, few longitudinal studies have been carried out, and even fewer in low- and middle-income countries. Therefore, the aim of this study was to analyse longitudinally the anxiety and depressive symptomatology of the Argentine general population during the first 13 months of the pandemic. The total sample included 988 adults (ages 18-77) from different regions of Argentina. Open-access surveys were distributed via social media at five time points (March, April, May, August 2020 and April 2021). Depression and anxiety symptoms were assessed through the Beck Depression Inventory-II and the State-Trait Anxiety Inventory. Mixed repeated-measures ANOVA were applied, with time as a within-subjects factor, and socioeconomic status, gender, and age group as between-subjects factors. Results showed a progressive increases in anxiety (F (27.78, 3417.60) = 62.88, p < 0.01, ηp2  = 0.060) and depression (F (3.42, 3373.75) = 84.78, p < 0.01, ηp2  = 0.079) symptoms in the general population throughout the pandemic (except for a slight decrease in anxiety in Wave 2). All of the between-subjects factors showed significant effects on both types of symptoms: female gender, younger age and lower income were associated with greater depression and anxiety in all waves. A time-age interaction effect was found (F (10.26, 3364.05)  = 2.99, p < 0.01, ηp2  = 0.009): after the third wave, depressive symptoms tended to decrease or stabilise in the young adult group, whereas there was a positive linear increase in the older groups. This study provided evidence that anxiety and depression symptoms tend to increase during crisis contexts, and that this effect is even more pronounced for certain vulnerable population groups. Mental health monitoring and support interventions should be included in government strategies to deal with the long-term impact of the pandemic.


Subject(s)
COVID-19 , Pandemics , Humans , Female , Adolescent , Young Adult , Adult , Middle Aged , Aged , COVID-19/epidemiology
15.
Conserv Biol ; 36(4): e13918, 2022 08.
Article in English | MEDLINE | ID: mdl-35554972

ABSTRACT

The pink pigeon (Nesoenas mayeri) is an endemic species of Mauritius that has made a remarkable recovery after a severe population bottleneck in the 1970s to early 1990s. Prior to this bottleneck, an ex situ population was established from which captive-bred individuals were released into free-living subpopulations to increase population size and genetic variation. This conservation rescue led to rapid population recovery to 400-480 individuals, and the species was twice downlisted on the International Union for the Conservation of Nature (IUCN) Red List. We analyzed the impacts of the bottleneck and genetic rescue on neutral genetic variation during and after population recovery (1993-2008) with restriction site-associated sequencing, microsatellite analyses, and quantitative genetic analysis of studbook data of 1112 birds from zoos in Europe and the United States. We used computer simulations to study the predicted changes in genetic variation and population viability from the past into the future. Genetic variation declined rapidly, despite the population rebound, and the effective population size was approximately an order of magnitude smaller than census size. The species carried a high genetic load of circa 15 lethal equivalents for longevity. Our computer simulations predicted continued inbreeding will likely result in increased expression of deleterious mutations (i.e., a high realized load) and severe inbreeding depression. Without continued conservation actions, it is likely that the pink pigeon will go extinct in the wild within 100 years. Conservation rescue of the pink pigeon has been instrumental in the recovery of the free-living population. However, further genetic rescue with captive-bred birds from zoos is required to recover lost variation, reduce expression of harmful deleterious variation, and prevent extinction. The use of genomics and modeling data can inform IUCN assessments of the viability and extinction risk of species, and it helps in assessments of the conservation dependency of populations.


La paloma rosada (Nesoenas mayeri) es una especie endémica de Mauricio que se ha recuperado impresionantemente después de un grave cuello de botella poblacional a principios de la década de 1970 que duró hasta inicios de la década de 1990. Antes de este cuello de botella se había establecido una población ex situ de la cual se liberaban individuos reproducidos en cautiverio a las subpoblaciones en libertad para incrementar la variación genética y el tamaño poblacional. Este rescate de conservación derivó en una recuperación rápida de la población (400-480 individuos) y la especie cambió positivamente de categoría dos veces en la Lista Roja de la Unión Internacional para la Conservación de la Naturaleza (UICN). Analizamos los impactos del cuello de botella y el rescate genético sobre la variación genética neutral durante y después de la recuperación poblacional (de 1993 a 2008) mediante secuenciación RAD, análisis de microsatélites y análisis genéticos cuantitativos de los datos del libro genealógico de 1112 aves ubicadas en zoológicos de Europa y los Estados Unidos. Usamos simulaciones por computadora para estudiar los cambios pronosticados en la variación genética y en la viabilidad poblacional del pasado hacia el futuro. La variación genética declinó rápidamente, a pesar de la recuperación poblacional, y el tamaño efectivo de la población fue aproximadamente un orden de magnitud más pequeño que el tamaño del censo. La especie contó con una carga genética elevada de casi 15 equivalentes letales para la longevidad. Nuestras simulaciones pronostican que la endogamia continua probablemente resultará en un incremento en la expresión de mutaciones deletéreas (es decir, una carga realizada elevada) y en una depresión endogámica severa. Sin acciones continuas para la conservación, es probable que la paloma rosada esté extinta en vida libre dentro de cien años. El rescate de conservación de la paloma rosada ha sido fundamental en la recuperación de la población silvestre; sin embargo, se requiere de un rescate genético adicional con las aves de reproducción en cautiverio de los zoológicos para recuperar la variación perdida, reducir la expresión de la variación deletérea dañina y prevenir la extinción. El uso de la genómica y los datos modelados puede orientar las valoraciones de la UICN sobre la viabilidad y el riesgo de extinción de las especies, además de que ayuda en la evaluación de la dependencia que tienen las poblaciones de la conservación.


Subject(s)
Birds , Conservation of Natural Resources , Animals , Birds/genetics , Endangered Species , Europe , Genetic Variation , Genomics , Population Density
16.
Gigascience ; 112022 03 29.
Article in English | MEDLINE | ID: mdl-35348671

ABSTRACT

BACKGROUND: The helmeted honeyeater (Lichenostomus melanops cassidix) is a Critically Endangered bird endemic to Victoria, Australia. To aid its conservation, the population is the subject of genetic rescue. To understand, monitor, and modulate the effects of genetic rescue on the helmeted honeyeater genome, a chromosome-length genome and a high-density linkage map are required. RESULTS: We used a combination of Illumina, Oxford Nanopore, and Hi-C sequencing technologies to assemble a chromosome-length genome of the helmeted honeyeater, comprising 906 scaffolds, with length of 1.1 Gb and scaffold N50 of 63.8 Mb. Annotation comprised 57,181 gene models. Using a pedigree of 257 birds and 53,111 single-nucleotide polymorphisms, we obtained high-density linkage and recombination maps for 25 autosomes and Z chromosome. The total sex-averaged linkage map was 1,347 cM long, with the male map being 6.7% longer than the female map. Recombination maps revealed sexually dimorphic recombination rates (overall higher in males), with average recombination rate of 1.8 cM/Mb. Comparative analyses revealed high synteny of the helmeted honeyeater genome with that of 3 passerine species (e.g., 32 Hi-C scaffolds mapped to 30 zebra finch autosomes and Z chromosome). The genome assembly and linkage map suggest that the helmeted honeyeater exhibits a fission of chromosome 1A into 2 chromosomes relative to zebra finch. PSMC analysis showed a ∼15-fold decline in effective population size to ∼60,000 from mid- to late Pleistocene. CONCLUSIONS: The annotated chromosome-length genome and high-density linkage map provide rich resources for evolutionary studies and will be fundamental in guiding conservation efforts for the helmeted honeyeater.


Subject(s)
Passeriformes , Animals , Australia , Chromosome Mapping , Female , Genetic Linkage , Male , Passeriformes/genetics , Sex Chromosomes
17.
Nat Rev Genet ; 23(8): 492-503, 2022 08.
Article in English | MEDLINE | ID: mdl-35136196

ABSTRACT

Genetic variation, which is generated by mutation, recombination and gene flow, can reduce the mean fitness of a population, both now and in the future. This 'genetic load' has been estimated in a wide range of animal taxa using various approaches. Advances in genome sequencing and computational techniques now enable us to estimate the genetic load in populations and individuals without direct fitness estimates. Here, we review the classic and contemporary literature of genetic load. We describe approaches to quantify the genetic load in whole-genome sequence data based on evolutionary conservation and annotations. We show that splitting the load into its two components - the realized load (or expressed load) and the masked load (or inbreeding load) - can improve our understanding of the population genetics of deleterious mutations.


Subject(s)
Genetic Load , Genetics, Population , Animals , Genetic Variation , Genome , Genomics , Inbreeding , Mutation
18.
Child Youth Care Forum ; 51(6): 1195-1225, 2022.
Article in English | MEDLINE | ID: mdl-35103041

ABSTRACT

Background: As a result of the COVID-19 pandemic, governments have implemented preventive measures towards reducing infections. These conditions can affect the mental health of children and adolescents; however, this has not yet been fully explored. Objective: The aim of the study was to analyze changes in symptomatology and positive emotions in Argentine children and adolescents since the onset of isolation, based on parent/caregiver report. We analyzed differences based on gender, age, socioeconomic status (SS) and containment measure (and their interactions); their associations with symptomatology and positive affect of parents/caregivers; and the moderating effects of sociodemographic factors on these associations. Method: A total of 1205 caregivers responded to a survey regarding the mental health of children and adolescents under their care. They also completed a set of anxiety, depression, and affect measures about themselves. Results: A considerable proportion of parents/caregivers perceived changes in their children's and adolescents' mental health compared to before the pandemic. Increased levels of anxiety-depression, aggression-irritability, impulsivity-inattention, and dependence-withdrawal were reported, as well as alterations in sleeping and eating habits, and a reduction in positive affect. Differences were observed according to their age and containment measure. Finally, we found correlations between parents/caregivers' symptomatology and that reported about their children or adolescents. Gender, age and SS moderated some of these relationships. Conclusions: Continued monitoring of child and adolescent mental health is a fundamental necessity. We recommend the implementation of early intervention strategies to prevent the escalation of serious mental health problems, particularly in those groups that have been most adversely affected since the onset of the pandemic.

19.
J Anxiety Disord ; 86: 102531, 2022 03.
Article in English | MEDLINE | ID: mdl-35066351

ABSTRACT

The current COVID-19 pandemic is a novel, unprecedented situation that has created considerable uncertainty due in part to the unpredictability of the future situation. Intolerance of Uncertainty is the inability to withstand negative uncertain situations, and predisposes people to overestimate threats and to develop psychopathological symptoms. The aim of this study was to longitudinally analyze the relationship between intolerance of COVID-19-related uncertainty and anxiety and depression symptoms. A non-probabilistic online snowball sampling method was used. For the study, 1230 Argentine adults (216 men; 1005 women; 9 other genders; mean age = 41.62; SD = 13.81) were recruited to complete three open-access surveys at three different time points: (1) between May 6 and June 1, 2020, (2) between August 8 and 13, 2020, and (3) between April 17 and 23, 2021. The results suggest that anxiety and depressive symptoms increase over time, and that intolerance of uncertainty is a predictor of this variability even up to eleven months after the initial assessment. Gender- and age- related effects were also observed (women and young people reported more psychopathological symptoms). The findings suggest the importance of intolerance of uncertainty for mental health and the importance of this type of study for understanding the psychological impact of the pandemic.


Subject(s)
COVID-19 , Pandemics , Adolescent , Adult , Anxiety/psychology , Argentina/epidemiology , Depression/psychology , Female , Humans , Longitudinal Studies , Male , SARS-CoV-2 , Uncertainty
20.
Science ; 372(6546)2021 06 04.
Article in English | MEDLINE | ID: mdl-34083458

ABSTRACT

Scott et al (Reports, 27 November 2020, p. 1086) bring much-needed attention to species conservation by demonstrating heterozygote superiority among translocated tortoises. However, we believe that their recommended heterozygosity decision rule risks taking conservation genomics backward. We argue that their advice could misguide conservation management aimed at establishing viable populations, and that it can be improved by also assessing the genetic load.


Subject(s)
Turtles , Animals , Heterozygote , Turtles/genetics
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