Biology subjects

Duchene, D. A.

Publications and source records attributed to Duchene, D. A..

At least 19 recordsLinked to original sources

bioRxiv2026

Reference mapping and whole-genome alignment yield comparable phylogenomic inferences

Reference-genome choice can introduce mapping bias when sequencing data are analysed against a heterospecific genome, but it remains unclear how strongly this bias affects species-level phylogenomic inference. We tested this across Ursidae using nine species spanning approximately 20 million years of divergence, including the extinct giant short-faced bear (Arctodus simus). We independently mapped the same sequencing datasets to four reference genomes spanning a broad range of evolutionary distances and compared these with two assembly-based whole-genome-alignment approaches. We developed PhyloSlide to analyse all treatments consistently, offering a streamlined pipeline for sliding-window phylogenomics. Using this approach, we found that mapping reference choice strongly affected sequence recovery, with missing data generally increasing with evolutionary distance. Nonetheless, all six treatments recovered an identical species-tree topology and highly similar gene and site concordance factors. Relative divergence-time estimates were also largely consistent between approaches. Together, these findings demonstrate that mapping sequencing reads from multiple species to a shared reference genome can yield phylogenomic inferences comparable to whole-genome alignment, despite substantial reference-dependent sequence loss across millions of years of evolutionary divergence.

evolutionary biology↗

bioRxiv2026

Evolutionary rates in "living fossils" across the Tree of Life

Lineages that have undergone little apparent evolutionary change over long geological intervals are often described as "living fossils", with iconic examples including the coelacanth, tuatara, and Ginkgo. However, studies of morphological and molecular data have produced mixed evidence regarding whether living fossils have evolved more slowly than their relatives. We tested for reduced evolutionary rates using a sister-pairs approach, analysing a comprehensive set of morphological and molecular data for 45 living-fossil lineages and their close relatives across the Tree of Life. Living-fossil lineages showed substantially reduced rates of morphological evolution, whereas evidence for reduced molecular rates was weaker. To test whether this pattern could be explained by species poverty, we also analysed other depauperate lineages (species-poor clades contrasted with species-rich sister clades) and found a weak tendency towards reduced molecular rates but without a corresponding slowdown in morphological evolution. Our study reveals that the living-fossil concept captures a quantifiable pattern of prolonged morphological conservatism, but also suggests that living fossils lack other shared biological or life-history characteristics that might unite them as a group.

evolutionary biology↗

bioRxiv2025

From deserts to forests: sequencing of the giant forest hog completes the genomic history of the African Suids

The giant forest hog (GFH, Hylochoerus meinertzhageni), the largest and most elusive wild pig, is found in a disjunct range across equatorial Africa, primarily inhabiting forests and woodlands. It is the only remaining African suid species without whole-genome data. The GFH is currently classified into three subspecies, differing in skull morphology and size. Here, we present the first whole-genome data of nine GFHs; one from Guinea and eight Uganda, representing the two geographically most distant subspecies. This genomic evidence allowed us to resolve the previously uncertain placement of the GFH among African suids as a sister group to the warthogs (Phacochoerus spp.). Also, we found a deep evolutionary split between the two GFH populations resulting in a level of genetic differentiation (FST > 0.75), which is similar to or higher than values observed among species of African wild pigs. The GFH likely diverged from warthogs around 4.6 Mya while the two study populations of GFH diverged at least 0.5 Mya and, subsequently, experienced very dissimilar demographic trajectories. The individual from Guinea had half of the heterozygosity level of the Uganda population, and lower value compared to all the African suids, probably as a result of the long term low Ne and isolation. Due to the close affinity of GFH with the African rainforest biotic zone, our findings have implications for understanding the history of habitat change in Africa. They also indicate a very deep and previously underappreciated evolutionary divergence within the GFH that may have implications for its conservation.

genomics↗

bioRxiv2025

Evolutionary genomics reveals plant origins of acetic acid bacteria in fermented food

Humans have historically relied on acetic acid bacteria (AAB) for food fermentation, yet their origins must trace back to free-living species outside of human environments. In nature, plants, fruit flies, and social insects host AAB. However, the evolutionary transitions of AAB from symbiotic hosts to fermented foods remain ambiguous. Here, we conduct a comprehensive phylogenomic analysis of 570 publicly available AAB genomes. We find that the [~]170My evolutionary history of this group is concordant with the rise of angiosperms, corbiculate bees, and the consequential accelerated availability of environmental carbohydrates. Unlike other ferment-associated microbes, ferment-associated AAB have exclusively evolved from clades inhabiting flowers and fruits, but not insect hosts. Genomic features are similar in plant- and ferment-associated AAB, yet markers of early adaptation to ferments are also present. Conversely, social insect-associated AAB have reduced genome sizes, which may have limited their functional capability to disperse into ferments. Plant- and ferment-associated AAB coincide in the ability to metabolise diverse plant carbohydrates, though both have adapted to produce habitat-specific carbohydrate-active enzymes. In contrast, metabolic capacity is reduced in social insect-associated AAB. By tracing the phylogenomics of this clade, we understand how evolution forged AAB capable of performing metabolic work for humans, shaping the history and potential futures of fermentation.

evolutionary biology↗

bioRxiv2025

Drivers of avian genomic change revealed by evolutionary rate decomposition

Modern bird diversity spans a striking array of forms, behaviours, and ecological roles. Analyses of molecular evolutionary rates can reveal the links between genomic and phenotypic change, but disentangling the drivers of rate variation has been difficult across large numbers of whole-genomes. Using comprehensive estimates of traits and evolutionary rates across a family-level phylogeny of birds, we show that clutch size, generation length, and beak shape are dominant predictors of genome-wide mutation rates. To identify the major axes of evolutionary rate variation, we employ covariance matrix eigendecomposition from rates estimated for branches of the avian phylogeny and across genomic loci. We find that the majority of rate variation occurs along the terminal branches of the phylogeny associated with extant families of birds. Additionally, we use principal components analyses to show that several axes of variation are linked with rapid evolution in microchromosomes immediately after the Cretaceous-Palaeogene transition. These apparent pulses of evolution are consistent with major changes in evolutionary rates in the machineries for meiosis, heart performance, and RNA splicing, surveillance, and translation. They also correlate with the diversification of ecological niches reflected in increased tarsus length. Collectively, our analyses paint a nuanced picture of avian evolutionary rates through time, revealing that the ancestors of the most diverse lineages of birds underwent major genomic changes related to mutation, gene usage, and niche expansion near the beginning of the Palaeogene period.

evolutionary biology↗

bioRxiv2024

Deep learning from videography as a tool for measuring infection in poultry

Poultry farming is threatened by regular outbreaks of Escherichia coli (E. coli) that lead to significant economic losses and public health risks. However, traditional surveillance methods often lack sensitivity and scalability. Early detection of infected poultry using minimally invasive procedures is thus essential for preventing epidemics. To that end, we leverage recent advancements in computer vision, employing deep learning-based tracking to detect behavioural changes associated with E. coli infection in a case-control trial comprising two groups of 20 broiler chickens: (1) a healthy control group and (2) a group infected with a pathogenic E. coli field strain from the poultry industry. More specifically, kinematic features derived from deep learning-based tracking data revealed markedly reduced activity in the challenged group compared to the negative control. These findings were validated by lower mean optical flow in the infected flock, suggesting reduced movement and activity, and post-mortem physiological markers of inflammation which confirmed the severity of infection in the challenged group. Overall, this study demonstrates that deep learning-based tracking offers a promising solution for real-time monitoring and early infection detection in poultry farming, with the potential to help reduce economic losses and mitigate public health risks associated with infectious disease outbreaks in poultry.

animal behavior and cognition↗

bioRxiv2024

Bayesian inference of phylogenetic distances: revisiting the eigenvalue approach

Using genetic data to infer evolutionary distances between molecular sequence pairs based on a Markov substitution model is a common procedure in phylogenetics, in particular for selecting a good starting tree to improve upon. Many evolutionary patterns can be accurately modelled using substitution models that are available in closed form, including the popular general time reversible model (GTR) for DNA data. For more unusual biological phenomena such as variations in lineage-specific evolutionary rates over time (heterotachy), more complex approaches uch as the GTR with rate variation (GTR+G) are required, but do not admit analytical solutions and do not automatically allow for likelihood calculations crucial for Bayesian analysis. In this paper, we derive a hybrid approach between these two methods, incorporating G(, )-distributed rate variation and heterotachy into a hierarchical Bayesian GTR-style framework. Our approach is differentiable and amenable to both stochastic gradient descent for optimisation and Hamiltonian Markov chain Monte Carlo for Bayesian inference. We show the utility of our approach by studying hypotheses regarding the origins of the eukaryotic cell within the context of a universal tree of life and find evidence for a two-domain theory.

evolutionary biology↗

bioRxiv2023

ClockstaRX: testing molecular clock hypotheses with genomic data

Phylogenetic studies of genomic data can provide valuable opportunities for evaluating evolutionary timescales and drivers of rate variation. These analyses require statistical tools based on molecular clocks. We present ClockstaRX, a flexible platform for exploring and testing evolutionary rate signals in phylogenomic data. It implements methods that use information from gene trees in Euclidean space, allowing data transformation, visualization, and hypothesis testing. ClockstaRX implements formal tests of the dimensionality reducibility of the Euclidean space of rates, and for identifying loci and branches that have a large influence on rate variation. Using simulations to evaluate the performance of the methods implemented, we find that inferences about rates can be strongly influenced by the overall amount of rate variation in the data, the shared patterns of among-lineage rate heterogeneity across groups of loci, and missing data. In an analysis of phylogenomic data from birds, we find a higher rate of evolution in introns compared with exons across all lineages. In addition, passerine taxa are highlighted as having unique patterns of genomic evolutionary rates compared with other avian lineages. Drawing on these results, we recommend careful exploratory analyses and filtering before performing phylogenomic analyses using molecular clocks.

molecular biology↗

bioRxiv2022

When blue turns to grey - Paleogenomic insights into the evolutionary history and extinction of the blue antelope (Hippotragus leucophaeus)

The blue antelope (Hippotragus leucophaeus) is the only large African mammal species to have become extinct in historical times, yet no nuclear genomic information is available for this species. A recent study showed that many alleged blue antelope museum specimens are either roan (H. equinus) or sable (H. niger) antelopes, further reducing the possibilities for obtaining genomic information for this extinct species. While the blue antelope has a rich fossil record from South Africa, climatic conditions in the region are unfavourable to the preservation of ancient DNA. Nevertheless, we recovered two blue antelope draft genomes, one at 3.4x mean coverage from a historical specimen (~200 years old) and one at 2.1x mean coverage from a fossil specimen dating to 9,800-9,300 cal BP, making it currently the oldest palaeogenome from Africa. Phylogenomics show that blue and sable antelope are sister species, confirming previous mitogenomic results, and demonstrate ancient gene flow from roan into blue antelope. We show that blue antelope genomic diversity was much lower than in roan and sable antelopes, indicative of a low population size since at least the early Holocene. This supports observations from the fossil record documenting major decreases in the abundance of blue antelope after the Pleistocene-Holocene transition. Finally, the persistence of this species throughout the Holocene despite low population size suggests that colonial-era human impact was likely a decisive factor in the blue antelopes extinction.

evolutionary biology↗

bioRxiv2021

Genome assembly of the tayra (Eira barbara, Mustelidae) and comparative genomic analysis reveal adaptive genetic variation in the subfamily Guloninae

Species of the mustelid subfamily Guloninae inhabit diverse habitats on multiple continents, and occupy a variety of ecological niches. They differ in feeding ecologies, reproductive strategies and morphological adaptations. To identify candidate loci associated with adaptations to their respective environments, we generated a de novo assembly of the tayra (Eira barbara), the earliest diverging species in the subfamily, and compared this with the genomes available for the wolverine (Gulo gulo) and the sable (Martes zibellina). Our comparative genomic analyses included searching for signs of positive selection, examining changes in gene family sizes, as well as searching for species-specific structural variants (SVs). Among candidate loci associated with phenotypic traits, we observed many related to diet, body condition and reproduction. For example, for the tayra, which has an atypical gulonine reproductive strategy of aseasonal breeding, we observe species-specific changes in many pregnancy-related genes. For the wolverine, a circumpolar hypercarnivore that must cope with seasonal food scarcity, we observed many changes in genes associated with diet and body condition. All types of genomic variation examined contributed substantially to the identification of candidate loci. This strongly argues for consideration of variation other than single nucleotide polymorphisms in comparative genomics studies aiming to identify loci of adaptive significance.

evolutionary biology↗

bioRxiv2021

Excluding loci with substitution saturation improves inferences from phylogenomic data

The historical signal in nucleotide sequences becomes eroded over time by substitutions occurring repeatedly at the same sites. This phenomenon, known as substitution saturation, is recognized as one of the primary obstacles to deep-time phylogenetic inference using genome-scale data sets. We present a new test of substitution saturation and demonstrate its performance in simulated and empirical data. For some of the 36 empirical phylogenomic data sets that we examined, we detect substitution saturation in around 50% of loci. We found that saturation tends to be flagged as problematic in loci with highly discordant phylogenetic signals across sites. Within each data set, the loci with smaller numbers of informative sites are more likely to be flagged as containing problematic levels of saturation. The entropy saturation test proposed here is sensitive to high evolutionary rates relative to the evolutionary timeframe, while also being sensitive to several factors known to mislead phylogenetic inference, including short internal branches relative to external branches, short nucleotide sequences, and tree imbalance. Our study demonstrates that excluding loci with substitution saturation can be an effective means of mitigating the negative impact of multiple substitutions on phylogenetic inferences.

evolutionary biology↗

bioRxiv2020

Ecological specialisation and evolutionary reticulation in extant Hyaenidae

During the Miocene, Hyaenidae was a highly diverse family of Carnivora that has since been severely reduced to four extant genera, each of which contains only a single species. These species include the bone-cracking spotted, striped, and brown hyenas, and the specialised insectivorous aardwolf. Previous genome studies have analysed the evolutionary histories of the spotted and brown hyenas, but little is known about the remaining two species. Moreover, the genomic underpinnings of scavenging and insectivory, defining traits of the extant species, remain elusive. To tackle these questions, we generated an aardwolf genome and analysed it together with those from the other three species. We provide new insights into the evolutionary relationships between the species, the genomic underpinnings of their scavenging and insectivorous lifestyles, and their respective genetic diversities and demographic histories. High levels of phylogenetic discordance within the family suggest gene flow between the aardwolf lineage and the ancestral brown/striped hyena lineage. Genes related to immunity and digestion in the bone-cracking hyenas and craniofacial development in the aardwolf showed the strongest signals of selection in their respective lineages, suggesting putative key adaptations to carrion or termite feeding. We also found a family-wide expansion in olfactory receptor genes suggesting that an acute sense of smell was a key early adaptation for the Hyaenidae family. Finally, we report very low levels of genetic diversity within the brown and striped hyenas despite no signs of inbreeding, which we putatively link to their similarly slow decline in Neover the last [~]2 million years. We found much higher levels of genetic diversity in both the spotted hyena and aardwolf and more stable population sizes through time. Taken together, these findings highlight how ecological specialisation can impact the evolutionary history, demographics, and adaptive genetic changes of a lineage.

evolutionary biology↗

bioRxiv2020

Phylogenetic signal is associated with the degree of variation in root-to-tip distances

The phylogenetic information contained in sequence data is partly determined by the overall rate of nucleotide substitution in the genomic region in question. However, phylogenetic signal is affected by various other factors, such as heterogeneity in substitution rates across lineages. These factors might be able to predict the phylogenetic accuracy of any given gene in a data set. We examined the association between the accuracy of phylogenetic inference across genes and several characteristics of branch lengths in phylogenomic data. In a large number of published data sets, we found that the accuracy of phylogenetic inference from genes was consistently associated with their mean statistical branch support and variation in their gene tree root-to-tip distances, but not with tree length and stemminess. Therefore, a signal of constant evolutionary rates across lineages appears to be beneficial for phylogenetic inference. Identifying the causes of variation in root-to-tip lengths in gene trees also offers a potential way forward to increase congruence in the signal across genes and improve estimates of species trees from phylogenomic data sets.

evolutionary biology↗

bioRxiv2020

Urban colonization is driven by a mixture of evolutionarily conserved and labile traits

Urbanization is a fast and dramatic transformation of habitat that generally forces native fauna into novel ecological challenges. The biological prerequisites necessary to establish in urban areas have been widely studied, but the macroevolutionary characteristics of traits that allow urban colonization remain poorly understood. Urban colonization might be facilitated by traits that are evolutionarily conserved and which lead to a diversity of closely related species. Alternatively, urban colonization might be associated with labile traits that frequently arise and are lost. In a large data set from passerine birds, we find that urban colonization has a signal of highly labile traits, despite many traits associated with colonization being highly conserved. Urban colonization is associated with traits that allow faster speciation than non-urban-colonizing counterparts, and more frequently transition to non-urban trait states than in the opposite direction. Overall, the traits that facilitate urban colonization are a mix of highly conserved and labile traits and appear to provide an evolutionarily successful strategy.

evolutionary biology↗

bioRxiv2020

Wing shape and environmental energy are associated with molecular evolutionary rates in a large avian radiation

Among the macroevolutionary drivers of molecular evolutionary rates, metabolic demands and environmental energy have been a central topic of discussion. The large number of studies examining these associations have found mixed results, and have rarely explored the interactions among various factors impacting molecular evolutionary rates. Taking the diverse avian family Furnariidae as a case study, we examined the association between several estimates of molecular evolutionary rates with proxies of metabolic demands imposed by flight (wing loading and the hand-wing index) and proxies of environmental energy across the geographic ranges of species (temperature and UV radiation). We found evidence that species that fly less have greater wing loading and this is associated with accelerated rates of mutation. An elongated wing morphology is associated with greater flight activity and with molecular signatures of positive selection or reduced population sizes. Meanwhile, environmental temperature and UV radiation interact to explain molecular rates at sites affected by selection and population size, contrary to the expectation of their impact on mutation rates. Our results suggest that the demands of flight and environmental energy pose multiple evolutionary pressures on the genome either by driving mutation rates or via their association with natural selection or population size.

evolutionary biology↗

bioRxiv2019

Bayesian Evaluation of Temporal Signal in Measurably Evolving Populations

Phylogenetic methods can use the sampling times of molecular sequence data to calibrate the molecular clock, enabling the estimation of evolutionary rates and timescales for rapidly evolving pathogens and data sets containing ancient DNA samples. A key aspect of such calibrations is whether a sufficient amount of molecular evolution has occurred over the sampling time window, that is, whether the data can be treated as having come from a measurably evolving population. Here we investigate the performance of a fully Bayesian evaluation of temporal signal (BETS) in sequence data. The method involves comparing the fit to the data of two models: a model in which the data are accompanied by the actual (heterochronous) sampling times, and a model in which the samples are constrained to be contemporaneous (isochronous). We conducted simulations under a wide range of conditions to demonstrate that BETS accurately classifies data sets according to whether they contain temporal signal or not, even when there is substantial among-lineage rate variation. We explore the behaviour of this classification in analyses of five empirical data sets: modern samples of A/H1N1 influenza virus, the bacterium Bordetella pertussis, coronaviruses from mammalian hosts, ancient DNA from Hepatitis B virus and mitochondrial genomes of dog species. Our results indicate that BETS is an effective alternative to other tests of temporal signal. In particular, this method has the key advantage of allowing a coherent assessment of the entire model, including the molecular clock and tree prior which are essential aspects of Bayesian phylodynamic analyses.

bioinformatics↗

bioRxiv2018

Linking Branch Lengths Across Loci Provides the Best Fit for Phylogenetic Inference

Evolution leaves heterogeneous patterns of nucleotide variation across the genome, with different loci subject to varying degrees of mutation, selection, and drift. Appropriately modelling this heterogeneity is important for reliable phylogenetic inference. One modelling approach in statistical phylogenetics is to apply independent models of molecular evolution to different groups of sites, where the groups are usually defined by locus, codon position, or combinations of the two. The potential impacts of partitioning data for the assignment of substitution models are well appreciated. Meanwhile, the treatment of branch lengths has received far less attention. In this study, we examined the effects of linking and unlinking branch-length parameters across loci. By analysing a range of empirical data sets, we find that the best-fitting model for phylogenetic inference is consistently one in which branch lengths are proportionally linked: gene trees have the same pattern of branch-length variation, but with varying absolute tree lengths. This model provided a substantially better fit than those that either assumed identical branch lengths across gene trees or that allowed each gene tree to have its own distinct set of branch lengths. Using simulations, we show that the fit of the three different models of branch lengths varies with the length of the sequence alignment and with the number of taxa in the data set. Our findings suggest that a model with proportionally linked branch lengths across loci is likely to provide the best fit under the conditions that are most commonly seen in practice. In future work, improvements in fit might be afforded by models with levels of complexity intermediate to proportional and free branch lengths. The results of our study have implications for model selection, computational efficiency, and experimental design in phylogenomics.

evolutionary biology↗

bioRxiv2018

Phylodynamic model adequacy using posterior predictive simulations

Rapidly evolving pathogens, such as viruses and bacteria, accumulate genetic change at a similar timescale over which their epidemiological processes occur, such that it is possible to make inferences about their infectious spread using phylogenetic time-trees. For this purpose it is necessary to choose a phylodynamic model. However, the resulting inferences are contingent on whether the model adequately describes key features of the data. Model adequacy methods allow formal rejection of a model if it cannot generate the main features of the data. We present TreeModelAdequacy (TMA), a package for the popular BEAST2 software, that allows assessing the adequacy of phylodynamic models. We illustrate its utility by analysing phylogenetic trees from two viral outbreaks of Ebola and H1N1 influenza. The main features of the Ebola data were adequately described by the coalescent exponential-growth model, whereas the H1N1 influenza data was best described by the birth-death SIR model.

bioinformatics↗