Biology subjects

Orozco-Arias, S.

Publications and source records attributed to Orozco-Arias, S..

5 recordsLinked to original sources

bioRxiv2026

Transposable element variation inferred from long-read sequences in wild house mice from temperate and tropical environments

Transposable elements (TEs) constitute a large fraction of mammalian genomes yet their contribution to variation among individuals within natural populations remains largely unexplored. While most TE insertions are deleterious, some may be beneficial and contribute to adaptation. We characterized TE variation and assessed its potential adaptive role using long-read whole-genome sequencing of wild-caught house mice (Mus musculus domesticus) sampled from two populations inhabiting contrasting temperate and tropical environments and differing in morphology, physiology, and behavior. We sequenced 10 mice from each population and created highly contiguous de-novo genome assemblies for each individual, allowing us to identify TEs that are not present in the mouse reference genome and to characterize individual variation. By performing manual TE curation, we identified 506 non-redundant TE consensus sequences among all mice. On average, each wild mouse genome contained 1.47 million TE insertions, ~4% of which were polymorphic among individuals. A small fraction of these polymorphic TE insertions were present in high frequency in just one of the populations, consistent with positive natural selection. Using liver RNA-seq in natural populations and in laboratory crosses, we studied gene expression at genes adjacent to polymorphic TEs. This identified a small set of TEs that are associated with the expression of nearby genes in a population-specific manner, nearly all of which showed independent signatures of positive selection. Together, these results provide the first detailed assessment of TE variation in natural populations of house mice and identify a small set of TE insertions that likely contribute to environmental adaptation.

evolutionary biology↗

bioRxiv2026

Ancient whole genomes reveal regional selection during adaptation to Neolithic lifestyle in Western Eurasia

The introduction of agriculture in Western Eurasia during the Mesolithic-Neolithic transition reshaped human lifestyle, demography and pathogen exposure. Yet, the associated selective pressures remain incompletely resolved because previous ancient DNA studies relied on targeted SNP panels and yielded non-overlapping results. Here, using high-coverage whole-genome data from 152 ancient individuals, including 12 newly sequenced genomes from the Iron Gates, we show that adaptation during this transition was geographically structured and involved selection of both Early Farmer and Hunter-Gatherer alleles. By combining scans of population differentiation, extended haplotype homozygosity, and adaptive admixture, we identify candidate loci under selection in ancestral and admixed populations. Extending the analysis beyond SNPs, we also detect differential copy-number variants, ancestry-associated shifts in transposable-element abundance, and an early Neolithic hepatitis B infection. Functional analyses including effects on gene expression suggested selection on immune, metabolic, reproductive, sensory, and behavioural processes. Taken together, our results reveal a broader and more regionally variable adaptive landscape than previously appreciated.

evolutionary biology↗

bioRxiv2026

PanTEon: a cross-kingdom framework to guide the design of transposable element classifiers

Transposable elements (TEs) are major drivers of genome evolution, yet their annotation and classification remain inconsistent and hard to reproduce across species. Fragmented repeats, lineage-specific innovations, and heterogeneous taxonomies across databases and tools complicate comparisons and slow progress in TE biology. To address this, we developed PanTEon, a cross-kingdom deep learning framework for reproducible TE classification that combines a harmonized database with an open, modular benchmarking platform. The PanTEon Database is an automatically curated, taxonomically broad TE repository spanning animals, plants, and fungi. The PanTEon platform standardizes training, evaluation, and inference across nine Machine Learning methods, while remaining extensible to user-defined architectures. Using this framework, we benchmark state-of-the-art Machine Learning-based TE classifiers across TE superfamilies and major eukaryotic lineages and find that performance varies markedly by kingdom and superfamily. Ensemble approaches and phylum-specific models improve predictive F1 scores, but cross-species generalization remains a major challenge. Together, PanTEon Database and PanTEon platform provide a reproducible, scalable, and extensible foundation for TE classification, enabling standardized evaluation of future AI methods and supporting community-driven annotation efforts.

bioinformatics↗

bioRxiv2023

The genome and population genomics of allopolyploid Coffea arabica reveal the diversification history of modern coffee cultivars

Coffea arabica, an allotetraploid hybrid of C. eugenioides and C. canephora, is the source of approximately 60% of coffee products worldwide, and its cultivated accessions have undergone several population bottlenecks. We present chromosome-level assemblies of a di-haploid C. arabica accession and modern representatives of its diploid progenitors, C. eugenioides and C. canephora. The three species exhibit largely conserved genome structures between diploid parents and descendant subgenomes, with no obvious global subgenome dominance. We find evidence for a founding polyploidy event 350,000-610,000 years ago, followed by several pre-domestication bottlenecks, resulting in narrow genetic variation. A split between wild accessions and cultivar progenitors occurred [~]30.5 kya, followed by a period of migration between the two populations. Analysis of modern varieties, including lines historically introgressed with C. canephora, highlights their breeding histories and loci that may contribute to pathogen resistance, laying the groundwork for future genomics-based breeding of C. arabica.

genomics↗

bioRxiv2022

High nucleotide similarity of three Copia lineage LTR retrotransposons among plant genomes

Transposable elements (TEs) are mobile genetic elements found in the majority of eukaryotic genomes. Because of their mobility in the host genome, TEs can deeply impact the structure and evolution of chromosomes and can induce mutations affecting coding genes. In response to these potential threats, host genomes use various processes to repress the TE expression, leading to an arm-race between TEs for their persistence and host genomes for their protection. In plants, the major group of TEs is the Long Terminal Repeats retrotransposons (LTR-RT). They are classified into superfamilies (Gypsy, Copia) and sub-classified into lineages according to similarities, structures and presence of coding domains. Among the different ways LTR-RTs can proliferate, horizontal transfer (HT), defined as the nonsexual transmission of nuclear and plastid genetic material between species, is a process allowing LTR-RTs to invade a new genome. Although this phenomenon was considered rare in eukaryotic organisms, recent studies demonstrate numerous potential transfers of LTR-RTs, suggesting that HT may be more frequent than initially estimated. This study aims to determine which LTR-RT lineages are shared with high similarity among 69 reference genomes that represent the major groups of green plants. We first identified and classified 88,450 LTR-RTs and determined 143 cases of high similarities between pairs of genomes. Most of them involved three Copia lineages (Oryco/Ivana, Retrofit/Ale and Tork/Tar/Ikeros) and very few of them included the Gypsy superfamily. Interestingly, a detailed analysis of three high similarities involving the Tork/Tar/Ikeros group of lineages indicates a patchy distribution of the elements and phylogenetic incongruities, indicating they originated from potential HTs. Overall, our results demonstrate that three specific lineages of Copia share outstanding similarity between very distant species and may probably be involved in horizontal transfer mechanisms.

genomics↗