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Trucchi, E.

Publications and source records attributed to Trucchi, E..

At least 19 recordsLinked to original sources

Autozygosity and genetic load as sensitive early warnings of butterfly population decline

Insects are commonly expected to be protected from genomic erosion by high fecundity, short generation times, and large census sizes. Yet, insect populations can decline and eventually go extinct, underscoring the need for genomic indicators that provide actionable early warnings of population collapse. Here, we test this expectation by comparing contemporary and historical genomes of the Ponza grayling, Hipparchia sbordonii, an endangered butterfly endemic to the Pontine Islands in the Mediterranean, with the genomes of a widespread European congeneric species, H. semele. Using whole-genome resequencing, outgroup-based variant polarization, demographic reconstruction, runs of homozygosity, selection scans, and annotation-based genetic-load analyses, we show that H. sbordonii has undergone sustained demographic contraction, including a sharp recent decline. Despite limited temporal change in mean genome-wide heterozygosity, we observe extensive autozygosity, elevated inbreeding, and a clear shift from masked to realized genetic load in contemporary H. sbordonii. R'XY analysis revealed similar relative frequencies of high-impact derived variants in H. sbordonii and H. semele, suggesting ineffective purging during population collapse, whereas low- and moderate-impact variants were relatively enriched in H. sbordonii, particularly within candidate regions under selection. This indicates a more complex dynamic, in which functional variation has been shaped by the combined effects of drift, relaxed purifying selection, and possible local adaptation. Our study shows that declining butterfly populations bear distinctive signatures of genomic erosion, mirroring patterns well documented in vertebrates. Yet recent demographic collapse in H. sbordonii is more clearly captured by long runs of homozygosity and realized genetic load than by changes in mean genome-wide heterozygosity, highlighting their potential as early warning indicators for monitoring declining insect populations.

evolutionary biology↗

Evolutionary history and genomic vulnerability of the extinct giant deer Megaloceros giganteus

The extinct giant deer (Megaloceros giganteus) was one of the most striking megafaunal species of the Late Quaternary, distinguished by its enormous palmated antlers reaching up to 3.5 m across, the largest known among both living and extinct cervids. Despite its iconic status, little is known about its genomic history prior to extinction [~]8 thousand years ago (kya). We generated the first nuclear palaeogenomes for Megaloceros, represented by nine individuals from Germany ([~]40 kya) and Ireland ([~]11 kya), mapped to a new chromosome-level reference genome of the fallow deer (Dama dama). Phylogenomic analyses placed Megaloceros as sister to Dama (divergence [~]3.5 Ma) and revealed evidence of gene flow with ancestral Cervus lineages. Population analyses identified clear differentiation between German and Irish lineages, with higher genetic diversity in the German individuals. Two genes under strong positive selection, BNIPL and SLC10A7, are associated with apoptosis regulation and skeletal development/bone mineralisation, respectively, and may relate to the species large body and antler size. Demographic reconstructions indicate a long-term decline in effective population size, extremely low heterozygosity, little evidence of extensive runs of homozygosity, and an elevated burden of predicted deleterious alleles. Together, these results suggest that Megaloceros entered the terminal Pleistocene in a genomically fragile state, offering new insight into the biology and evolutionary legacy of one of the largest and most distinctive cervids that ever lived.

evolutionary biology↗

The relationship between genomic variation and genetic load: insights from small island populations

Small populations face high extinction risks. This can be explained by several non-genetic and genetic factors, the latter including the loss of genetic diversity and evolutionary potential, as well as the accumulation of harmful mutations (genetic load). Using whole-genome data from island populations with different effective sizes, we estimated genetic variation and load and explored the relationship between these quantities. An extremely small population of the Aeolian wall lizard, Podarcis raffonei, likely isolated for tens of thousands of years, shows the lowest genome-wide heterozygosity observed in wild eukaryotes (one polymorphic site every 300 kb on average). Despite this, its realized genetic load is comparable to that observed in another larger and more genetically variable population. Both populations have lower variation and higher load than the much more abundant sister species, the Sicilian wall lizard. These observations are consistent with the hypothesis that populations experiencing severe bottlenecks may persist for extended periods with extremely low genomic variation, provided that their burden of deleterious mutations remains within tolerable bounds.

genomics↗

Early-life stress as a potential resilience factor in king penguins

Climate change-driven environmental variability can cause species to shift their phenology, leading to an increase in phenological mismatches. Whether the fitness cost of such mismatches can be mitigated by plasticity remains poorly understood, especially in the context of wild populations. In this study, we quantified responses to phenological mismatch using capture-mark-recapture, morphological, and transcriptomic data from king penguins hatching during and after the seasonal peak of food availability (i.e., born early and late in the breeding season, respectively). Late-born chicks showed reduced survival to fledging and fledged smaller and in slightly poorer body condition than chicks born during the seasonal peak in food availability. Yet post-fledging return rates did not differ between late- and early-born chicks, suggesting that early-life stress was effectively mitigated among individuals that survived to fledging, with no detectable carryover effects in the first years post-fledging. Genes involved in oxidative stress response, homeostasis, and nutrient-sensing were differentially expressed between early- and late-born chicks, consistent with stress mitigation and homeostasis maintenance at the expense of growth in late-born chicks. A co-expression gene cluster whose primary expression pattern was associated with hatching phenology also contained central genes involved in stress mitigation. Together, our findings highlight molecular mechanisms that buffer the fitness costs of phenological mismatch, which may allow species to tolerate mismatch to some extent. Despite higher winter mortality of individuals born in mismatch, the plastic response observed in survivors hints towards molecular adaptations that could allow species resilience under increasing climate-driven environmental unpredictability.

genomics↗

Sex-biased dispersal drives mito-nuclear discordance in simulated populations

Reconstructing the evolutionary dynamics of natural populations requires an understanding of the geographical distribution of nuclear and mitochondrial genetic diversity. The analysis of these two genetic markers frequently discloses discordant patterns (mito-nuclear discordance) that can arise simply as a consequence of their different effective population sizes (Ne). Species-specific sex-biased dispersal may contribute to the mito-nuclear discordance observed in natural populations. However, the relative contribution of genetic drift versus sex-biased dispersal in driving mito-nuclear discordance remains insufficiently evaluated. Here, we use forward genetic simulations to address this knowledge gap. Our findings support the baseline level of mito-nuclear discordance arising from distinct genomic Ne, but show that this inherent discordance is magnified by sex-biased dispersal patterns. We demonstrate that female-biased dispersal leads to a marked spatial mismatch between mitochondrial and nuclear diversity across the simulated populations, thereby reducing the spatial concordance between mitochondrial and nuclear markers. Conversely, male dispersal patterns appear to increase, although to a reduced degree, the intrinsic level of discordance between nuclear and mitochondrial geographical marker distribution. Our results highlight the importance of integrating the intrinsic characteristics of nuclear and mitochondrial genomes and the impact of sex-biased dispersal for accurately interpreting patterns of genetic diversity and reconstructing evolutionary histories.

genomics↗

Coexisting with humans: genomic and behavioural consequences in a small and isolated bear population

Climate and land use change have increased human-wildlife interactions, potentially reducing wild species density and prompting behavioural adaptations to urbanised environments. It is still debated if behavioural responses are mainly the result of phenotypic plasticity or if they were driven by anthropic selective pressures, especially in small populations. Our study focused on the Apennine brown bear population (Ursus arctos marsicanus), which has coexisted with humans in Central Italy for millennia. We characterised genomic diversity and identified adaptation signals distinctive to this population by comparing whole genome resequencing data across the Holarctic species range. We show that Apennine brown bears possess a unique genomic diversity pattern including selective signatures at genes associated with reduced aggressiveness, possibly involving alternative splicing mechanism. Our findings suggest that even in small and long-isolated populations, selection may shape behavioural traits. We hypothesise that human-induced selection has influenced these changes, reducing conflicts and contributing to the long-term persistence of the Apennine bear and its coexistence with humans.

genomics↗

A chromosome-level genome of the King penguin (Aptenodytes patagonicus): an emerging model-in-the-wild for studying evolution

The King penguin (Aptenodytes patagonicus) is an iconic species of the Southern Ocean and is currently being developed as a model-in-the-wild for understanding evolution. We present a high-quality, haplotype-resolved 1.35 Gb chromosome-level genome of an adult female King penguin - Pen/Se-guin - from the Crozet Archipelago, assembled using PacBio HiFi long-read sequencing and Hi-C proximity data. 94.93% of the assembly is assigned to 34 chromosomes (32 autosomes, plus the Z and W chromosomes), with a BUSCO completeness of 97.2%, a k-mer completeness of 99.7%, and a quality value (QV) of 63.8. We also assembled a circularised mitogenome (20,520 bp), which includes the avian tandem duplication (TD). Annotation of repetitive sequences revealed that 16.3% of the genome comprises repetitive elements, with LINEs being the most abundant transposable element class (5.6%). Gene prediction using an extensive multi-tissue RNA-seq dataset resulted in 18,081 predicted protein-coding genes, of which 17,081 were functionally annotated, with a BUSCO completeness of 98.4% and an OMArk completeness of 97.3%. The presented assembly substantially improves the quality of a previous draft genome, showing a 28-fold increase in assembly contiguity and a significantly improved genome annotation, exceeding the standards of the Earth BioGenome Project (EBP) and Vertebrate Genomes Project (VGP). This high-quality genome will enable ongoing and future studies harnessing the King penguin as a model-in-the-wild to test hypotheses on the genotype-to-fitness link, ageing, life-history trait evolution, and adaptation.

genomics↗

Small RNAs regulation and genomic harmony: insights into allopolyploid evolution in marsh orchids (Dactylorhiza)

O_LIHybridization and polyploidy are major drivers of plant diversification, often accompanied by shifts in gene expression and genome composition. Small RNAs (smRNAs) are thought to influence such genomic changes, particularly through their interactions with transposable elements (TEs). C_LIO_LIWe comparatively quantified smRNAs in established sibling allopolyploids Dactylorhiza majalis and D. traunsteineri and their diploid progenitors to assess how independent allopolyploidization events shaped smRNA landscapes. C_LIO_LIDespite independent origins, the allotetraploids exhibited substantial overlap in smRNA composition, including transgressive accumulation of smRNA near genes related to transcriptional regulation, cell division and stress response. Consistently, TE-associated 24 nt smRNAs more closely resembled the paternal and larger genome, while shorter smRNAs typically reflected the maternal and smaller genome. Nevertheless, distinct patterns were also evident: the older D. majalis showed greater accumulation of smRNAs near genes involved in transcriptional and translational regulation, while the younger D. traunsteineri displayed stronger non-additive patterns, suggesting ongoing resolution of post-polyploid meiotic and mitotic instability. C_LIO_LIOur results reveal both convergence and divergence in smRNA landscapes among independently formed allopolyploids. Our study highlights the central role of smRNAs in resolving genomic conflict, with possible implications for functional divergence and ecological innovation during polyploid evolution. C_LI Plain-language summaryWe studied two sibling marsh orchid species that arose through hybridization and genome doubling. By comparing their small RNA molecules and how these associate with genes, we found both shared and species-specific patterns. These differences reflect how the orchids genomes have changed since formation, and may explain how repeated polyploidy events contribute to genetic and ecological diversity in plants.

evolutionary biology↗

Pervasive and recurrent hybridisation prevents inbreeding depression in Europe's most threatened seabird

Hybridisation is a double-edged sword: while it can erode distinct evolutionary lineages, it can also introduce genetic diversity and adaptive potential into dwindling populations. In the Critically Endangered Balearic shearwater (Puffinus mauretanicus), this dilemma is exacerbated by a limited understanding of the extent and consequences of hybridisation with the Yelkouan shearwater (P. yelkouan). This knowledge gap has limited the scope of science-based conservation strategies to avoid the Balearic shearwaters imminent extinction. Here, we investigate shearwater hybridisation dynamics and their effect on genome-wide diversity in the Balearic shearwater. Divergence dating, demographic modelling and admixture analyses suggest that these two poorly-differentiated shearwater lineages experienced recurrent episodes of divergence and widespread hybridisation during glacial cycles. Selection scans reveal a 500 kb region hosting an adaptive haplotype that potentially underpins interspecific differences in migratory behaviour, and which has been repeatedly introgressed between taxa. Moreover, we show that interspecific gene flow has prevented increases in homozygosity and genetic load, and through forward simulations we illustrate how it can enhance the Balearic shearwaters resilience to future population bottlenecks. Our findings illustrate how introgression can be crucial for maintaining genetic diversity in threatened taxa, and highlight the need for considering the protection of hybridisation in conservation plans.

evolutionary biology↗

Sedentary life accelerates epigenetic ageing in King penguins

Introductory paragraphAdvances in medicine and food security have contributed to an increase in human lifespan1. Yet, the associated rise in sedentary behaviour and in obesity2,3 already threatens these gains4. Indeed, a growing body of evidence supports the central role of nutrient sensing and energy management pathways in regulating ageing rate and healthspan5,6, but the diversity of human lifestyles challenges our ability to identify the genetic and epigenetic drivers of this age acceleration. Here, we examine how the transition of wild King penguins to zoo husbandry can closely mimic the shift to a Western lifestyle in humans, and shed light on evolutionarily conserved epigenetic changes in responses to sedentary conditions. We show that, just like modern humans, zoo-housed King penguins experience an extended lifespan, but this comes at the cost of accelerated epigenetic ageing throughout life. This accelerated ageing is associated with differential methylation in key growth and maintenance pathways including the mTOR and PI3K/Akt networks, as well as in specific pathways of lipid-rich diet adaptation and heart-function. Our results demonstrate the deeply conserved link between sedentary behaviour and food availability on the one hand, and age acceleration on the other. Such evolutionary evidence may in turn help us to improve risk detection and, ultimately, therapeutics for lifestyle-induced age acceleration in humans7.

genomics↗

Gene expression shifts in Emperor penguin adaptation to the extreme Antarctic environment

Gene expression can accelerate ecological divergence by rapidly tweaking the response of an organism to novel environments, with more divergent environments exerting stronger selection and supposedly, requiring faster adaptive responses. Organisms adapted to extreme environments provide ideal systems to test this hypothesis, particularly when compared to related species with milder ecological niches. The Emperor penguin (Aptenodytes forsteri) is the only warm-blooded vertebrate breeding in the harsh Antarctic winter, in stark contrast with the less cold-adapted sister species, the King penguin (A. patagonicus). Assembling the first de novo transcriptomes and analysing multi-tissue (brain, kidney, liver, muscle, skin) RNAseq data from natural populations of both species, we quantified the shifts in tissue-enhanced genes, co-expression gene networks, and differentially expressed genes characterising Emperor penguin adaptation to extreme Antarctic ecology. Our analyses revealed the crucial role played by muscle and liver in temperature homeostasis, fasting and whole-body energy metabolism (glucose/insulin regulation, lipid metabolism, fatty acid beta-oxidation, and blood coagulation). Repatterning at the regulatory level appears as more important in the brain of the Emperor penguin, showing the lowest signature of differential gene expression but the largest co-expression gene network shift. Nevertheless, over-expressed genes related to mTOR signalling in the brain and the liver support their central role in cold and fasting responses. Besides contributing to understanding the genetics underlying complex traits, like body energy reservoir management, our results provide a first insight into the role of gene expression in adaptation to one of the most extreme environmental conditions endured by an endotherm.

evolutionary biology↗

Gene expression is the main driver of purifying selection in large penguin populations

Purifying selection is the most pervasive type of selection, as it constantly removes deleterious mutations arising in populations, directly scaling with population size. Highly expressed genes appear to accumulate fewer deleterious mutations between divergent species lineages (known as E-R anticorrelation), pointing towards gene expression as an additional driver of purifying selection. However, estimates of the effect of gene expression on segregating deleterious variants in natural populations are scarce, as is an understanding of the relative contribution of population size and gene expression to purifying selection. Here, we analyse genomic and transcriptomic data from two natural populations of closely related sister species with different demographic histories, the Emperor penguin (Aptenodytes forsteri) and the King penguin (A. patagonicus), and show that purifying selection at the population-level depends on gene expression rate, resulting in very high selection coefficients at highly expressed genes. Leveraging realistic forward simulations, we estimate that the top 10% of the most highly expressed genes in a genome experience a selection pressure corresponding to an average selection coefficient of -0.1, which decreases to a selection coefficient of -0.01 for the top 50%. Gene expression rate can be regarded as a fundamental parameter of protein evolution in natural populations, maintaining selection effective even at small population size. We suggest it could be used as a proxy for gene selection coefficients, which are notoriously difficult to derive in non-model species under real-world conditions.

evolutionary biology↗

RFIDeep: Unfolding the Potential of Deep Learning forRadio-Frequency Identification

O_LIAutomatic monitoring of wildlife is becoming a critical tool in the field of ecology. In particular, Radio-Frequency IDentification (RFID) is now a widespread technology to assess the phenology, breeding, and survival of many species. While RFID produces massive datasets, no established fast and accurate methods are yet available for this type of data processing. Deep learning approaches have been used to overcome similar problems in other scientific fields and hence might hold the potential to overcome these analytical challenges and unlock the full potential of RFID studies. C_LIO_LIWe present a deep learning workflow, coined "RFIDeep", to derive ecological features, such as breeding status and outcome, from RFID mark-recapture data. To demonstrate the performance of RFIDeep with complex datasets, we used a long-term automatic monitoring of a long-lived seabird that breeds in densely packed colonies, hence with many daily entries and exits. C_LIO_LITo determine individual breeding status and phenology and for each breeding season, we first developed a one-dimensional convolution neural network (1D-CNN) architecture. Second, to account for variance in breeding phenology and technical limitations of field data acquisition, we built a new data augmentation step mimicking a shift in breeding dates and missing RFID detections, a common issue with RFIDs. Third, to identify the segments of the breeding activity used during classification, we also included a visualisation tool, which allows users to understand what is usually considered a "black box" step of deep learning. With these three steps, we achieved a high accuracy for all breeding parameters: breeding status accuracy = 96.3%; phenological accuracy = 86.9%; breeding success accuracy = 97.3%. C_LIO_LIRFIDeep has unfolded the potential of artificial intelligence for tracking changes in animal populations, multiplying the benefit of automated mark-recapture monitoring of undisturbed wildlife populations. RFIDeep is an open source code to facilitate the use, adaptation, or enhancement of RFID data in a wide variety of species. In addition to a tremendous time saving for analyzing these large datasets, our study shows the capacities of CNN models to autonomously detect ecologically meaningful patterns in data through visualisation techniques, which are seldom used in ecology. C_LI

ecology↗

Historical dispersal and host-switching formed the evolutionary history of a globally distributed multi-host parasite - the Ligula intestinalis species complex

Studies on parasite biogeography and host spectrum provide insights into the processes driving parasite diversification. Global geographical distribution and a multi-host spectrum make the tapeworm Ligula intestinalis a promising model for studying both the vicariant and ecological modes of speciation in parasites. To understand the relative importance of host association and biogeography in the evolutionary history of this tapeworm, we analysed mtDNA and reduced-represented genomic SNP data for a total of 139 specimens collected from 18 fish-host genera across a distribution range representing 21 countries. Our results strongly supported the existence of at least 10 evolutionary lineages and estimated the deepest divergence at approximately 4.99-5.05 Mya, which is much younger than the diversification of the fish host genera and orders. Historical biogeography analyses revealed that the ancestor of the parasite diversified following multiple vicariance events and was widespread throughout the Palearctic, Afrotropical, and Nearctic between the late Miocene and early Pliocene. Cyprinoids were inferred as the ancestral hosts for the parasite. Later, from the late Pliocene to Pleistocene, new lineages emerged following a series of biogeographic dispersal and host-switching events. Although only a few of the current Ligula lineages show narrow host-specificity (to a single host genus), almost no host genera, even those that live in sympatry, overlapped between different Ligula lineages. Our analyses uncovered the impact of historical distribution shifts on host switching and the evolution of host specificity without parallel host-parasite co-speciation. Historical biogeography reconstructions also found that the parasite colonized several areas (Afrotropical and Australasian) much earlier than was suggested by only recent faunistic data.

evolutionary biology↗

Selection and adaptive introgression guided the complex evolutionary history of European common bean

Domesticated crops have been disseminated by humans over vast geographic areas. After 1492, the common bean (Phaseolus vulgaris L.) was introduced in Europe. Here, we combine whole-genome profiling, metabolic fingerprinting and phenotypic characterisation, and we show that the first common bean cultigens successfully introduced into Europe were of Andean origin, after Francisco Pizarros expedition to northern Peru in 1529. We show that hybridisation, selection and recombination have shaped the genomic diversity of the European common bean in parallel with political constraints. There is clear evidence of adaptive introgression into the Mesoamerican-derived European genotypes, with 44 Andean introgressed genomic segments shared by more than 90% of European accessions and distributed across all chromosomes except PvChr11. Genomic scans for signatures of selection highlight the role of genes relevant to flowering and environmental adaptation, suggesting that introgression has been crucial for the dissemination of this tropical crop to the temperate regions of Europe.

genomics↗

The history and organization of the Workshop on Population and Speciation Genomics

With the advent of high-throughput genome sequencing, bioinformatics training has become essential for research in evolutionary biology and related fields. However, individual research groups are often not in the position to teach students about the most up-to-date methodology in the field. To fill this gap, extended bioinformatics courses have been developed by various institutions and provide intense training over the course of two or more weeks. Here, we describe our experience with the organization of a course in one of the longest-running extended bioinformatics series of work-shops, the Evomics Workshop on Population and Speciation Genomics that takes place biennially in the UNESCO world heritage town of [C]esky Krumlov, Czech Republic. We list the key ingredients that make this workshop successful in our view, and describe the routine for workshop organization that we have optimized over the years. We report the results of a survey conducted among past workshop participants that quantifies measures of effective teaching and provide examples of how the workshop setting has led to the cross-fertilisation of ideas and ultimately scientific progress. We expect that our account may be useful for other groups aiming to set up their own extended bioinformatics courses.

scientific communication and education↗

Selection-driven adaptation to the extreme Antarctic environment in the Emperor penguin

The eco-evolutionary history of penguins is profoundly influenced by their shift from temperate to cold environments. Breeding only in Antarctica during the winter, the Emperor penguin appears as an extreme outcome of this process, with unique features related to insulation, heat production and energy management. However, whether this species actually diverged from a less cold-adapted ancestor, thus more similar in ecology to its sister species, the King penguin, is still an open question. As the Antarctic niche shift likely resulted in vast changes in selective pressure experienced by the Emperor penguin, the identification and relative quantification of the genomic signatures of selection, unique to each of these sister species, could answer this question. Applying a suite of phylogeny-based methods on 7,651 orthologous gene alignments of seven penguins and 13 other birds, we identified a set of candidate genes showing significantly different selection regimes either in the Emperor or in the King penguin lineage. Our comparative approach unveils a more pervasive selection shift in the Emperor penguin, supporting the hypothesis that its extreme cold adaptation is a derived state from a more King penguin-like ecology. Among the candidate genes under selection in the Emperor penguin, four genes (TRPM8, LEPR, CRB1, and SFI1) were identified before in other cold adapted vertebrates, while, on the other hand, 161 genes can be assigned to functional pathways relevant to cold adaptation (e.g., cardiovascular system, lipid, fatty acid and glucose metabolism, insulation, etc.). Our results show that extreme cold adaptation in the Emperor penguin largely involved unique genetic options which, however, affect metabolic and physiological traits common to other cold-adapted homeotherms.

evolutionary biology↗

From STRs to SNPs via ddRAD-seq: geographic assignment of confiscated tortoises at reduced costs

Assigning individuals to their source populations is crucial for conservation research, especially for endangered species threatened by illegal trade and translocations. Genetic assignment can be achieved with different types of molecular markers, but technical advantages and cost saving are recently promoting the shift from short tandem repeats (STRs) to single nucleotide polymorphisms (SNPs). Here, we designed, developed, and tested a small panel of SNPs for cost-effective geographic assignment of individuals with unknown origin of the endangered Mediterranean tortoise Testudo hermanni. We started by performing a ddRAD-seq experiment on 70 wild individuals of T. hermanni from 38 locations. Results obtained using 3,182 SNPs are comparable to those previously obtained using STR markers in terms of genetic structure and power to identify the macro-area of origin. However, our SNPs revealed further insights into the substructure in Western populations, especially in Southern Italy. A small panel of highly informative SNPs was then selected and tested by genotyping 190 individuals using the KASP genotyping chemistry. All the samples from wild populations of known geographic origin were genetically re-assigned with high accuracy to the original population. This reduced SNPs panel represents an efficient molecular tool that enables individuals to be genotyped at low cost (less than {euro}15 per sample) for geographical assignment and identification of hybrids. This information is crucial for the management in-situ of confiscated animals and their possible re-allocation in the wild. Our methodological pipeline can easily be extended to other species.

genomics↗