Biology subjects

Bombarely, A.

Publications and source records attributed to Bombarely, A..

14 recordsLinked to original sources

bioRxiv2026

Ecotypes, Wolbachia, and urbanization shape Culex pipiens population structure in a West Nile virus hotspot

Culex pipiens is a major vector of West Nile Virus (WNV) in Europe and has a complex evolutionary history that has been linked to the probability of WNV spillover to humans. Here, we present a population genomic analysis of Cx. pipiens from a WNV hotspot in southwestern Spain. Whole-genome sequencing of 217 individuals from 24 localities revealed that population structure is mainly shaped by the coexistence of pipiens and molestus ecotypes. Despite clustering, genome-wide divergence between ecotypes was low, consistent with shared ancestral variation. Furthermore, Wolbachia infection was heterogeneous across the study area, where some Culex pipiens pipiens remain uninfected. We also identified three new polymorphic chromosomal inversions on chromosomes 1 and 3 that segregate independently. Although inversions did not underlie ecotypic differentiation, they were enriched for genes involved in olfaction and insecticide resistance pathways, suggesting potential adaptive and epidemiological relevance. Distance-based redundancy analyses showed that ecotype identity explained the largest fraction of genetic variance, with additional contributions from Wolbachia infection, habitat type (urban versus rural) and geographic distance. These results reveal that partial ecotypic differentiation, symbiont infection, and habitat interact to shape population structure in Cx. pipiens, with implications for vector ecology and disease transmission.

genomics↗

bioRxiv2026

The Speciation Continuum in Bloom: Incomplete Lineage Sorting, Gene Flow, and Reticulate Evolution in Rapidly Diverging Plant Lineages

The remarkable diversity of life on Earth results from evolutionary processes functioning across different spatial and temporal scales. Species diversification occurs through various mechanisms and at widely varying rates, but identifying the conditions that trigger bursts of diversification over short timescales remains a central challenge in evolutionary biology. This difficulty is more pronounced when incomplete lineage sorting (ILS), hybridization, and ongoing gene flow obscure evolutionary relationships and complicate species delimitation. In this study, we investigated the evolutionary history and species boundaries within a group of recently diverged Petunia lineages shaped by pervasive gene flow. We integrated phylogenomic, population genetic, and species delimitation approaches to reconstruct lineage relationships and assess whether these lineages represent distinct species or stages along a speciation continuum. By applying methods that account for both ILS and gene flow, we revealed that most lineages are not fully independent evolutionary units but rather occupy intermediate positions along this continuum. Gene flow played a crucial role during diversification, blurring species boundaries and generating reticulate evolutionary patterns. Our findings demonstrate that traditional phylogenetic trees may oversimplify relationships in such systems, while phylogenetic networks offer a more accurate representation of evolutionary history. Comprehensive and integrative analyses, such as those employed here, are essential for capturing these complex dynamics. Ultimately, only four lineages could be confidently recognized as distinct species, whereas the remaining represent cases of ongoing divergence. These results emphasize the need to refine species delimitation frameworks for systems characterized by recent divergence and extensive reticulation.

evolutionary biology↗

bioRxiv2026

Reference genome choice impacts SNP recovery but not evolutionary inference in young species

Reduced-representation sequencing approaches such as RAD-seq are widely used in population genomics and phylogenetics, particularly for non-model organisms. However, bioinformatics choices during data processing can strongly influence downstream analyses. One key but underexplored factor is the reference genome used for read alignment and SNP discovery. Here, we evaluate the effects of reference genome choice on RAD-seq analyses using multiple datasets spanning recent radiations in Petunia and Calibrachoa, and reference genomes that differ in phylogenetic relatedness. When using congeneric reference genomes, we observed highly consistent mapping rates, SNP recovery, and downstream population genomic patterns. In contrast, mapping to more distantly related genomes resulted in lower mapping rates and stronger effects on summary statistics. Despite these quantitative reductions, broader patterns of genetic structure and diversity, as well as evolutionary relationships, remained largely congruent across reference genomes. Overall, our results indicate that reference genome choice matters most when genomes are distantly related or when analyses target fine-scale genomic signals. For recent radiations with largely conserved genome structure, closely related reference genomes yield comparable SNP datasets and lead to the same biological conclusions regarding population structure and phylogenetic relationships. These findings provide practical guidance for RAD-seq studies in non-model systems, showing that congeneric reference genomes are sufficient for robust population and phylogenetic inference, and that more distantly related genomes can remain informative when no close reference is available.

bioinformatics↗

bioRxiv2025

The avocado pangenome reveals dynamic clustering and lineage-specific diversity of NLR genes

Avocado is an economically important perennial tree crop with a complex domestication history, yet modern genomic resources are limited. We present the first high-quality avocado pangenome, spanning seven diverse accessions across Mexican, Guatemalan, and West-Indian lineages. PacBio HiFi, partially phased assemblies deliver near chromosome-level continuity (N50 ~57 Mb; BUSCO >96%), and functional annotations show enrichment of immune-related families. Core-accessory partitioning indicates adaptive functions -- pathogen response and secondary metabolism -- are overrepresented in accessory genes. Nucleotide-binding Leucine-rich repeat (NLR) genes were catalogued (226-256 per accession), showing lineage-specific expansions, diverse domain architectures, and frequent chromosomal clustering. Structural variants concentrate within NLR loci, marking hotspots of pathogen-detection diversification. Comparative analyses show ~54% of NLRs are shared, with extensive functional and sequence diversity among accessions. Together, these results define the avocado NLRome and its core- accessory interplay, providing a graph-based framework to accelerate discovery of resistance loci and breeding for durable disease resistance.

plant biology↗

bioRxiv2025

Independent genomic trajectories shape adaptation to life on land across animal lineages

How animals repeatedly adapted to life on land is a central question in evolutionary biology. While terrestrialisation occurred independently across animal phyla, it remains unclear whether shared genomic mechanisms underlie these transitions. Here, we combine large-scale comparative genomics, machine learning, and multi-omics data, including proteomics and transcriptomics from stress experiments relevant to terrestrial environmental challenges in 17 species, to investigate the genomic basis of animal terrestrial adaptation. Gene co-expression networks reveal that genes relevant to stress are largely lineage-specific, yet converge in function through the co-option of gene families pre-dating terrestrialisation events. Phylogenomic and machine learning analyses support a dominant role for early-evolving genes, enriched in stress-related functions, paired with a higher gene loss than gain at terrestrialisation nodes. Our findings support a model of lineage-specific genomic changes involving mostly conserved genes that converged at the functional level during the independent transitions to terrestrial life.

evolutionary biology↗

bioRxiv2025

Genome dynamics across the radiation of a mega-diverse genus

Understanding the drivers of species diversity and rapid radiations is a major goal in evolutionary biology. Begonia is one of the most species-rich angiosperm genera with 2,164 species currently identified. This genus exhibits considerable variation in chromosome number and a wide range of genome sizes, allowing us to associate genome dynamics with divergence and speciation at a range of temporal scales. We investigate all main radiations within the Begoniaceae family using five previously published Begonia genomes and seven new genome assemblies. We show that Begonia species show more complex, repetitive and dynamic genomes overall than their close relative, the monotypic Hillebrandia sandwicensis. We identify families of repetitive elements that have recently expanded in species from two different highly speciose Southeast Asian sections and two large Neotropical radiations. Detailed characterisation of genomes from species belonging to two parallel radiations, one in Southeast Asia (Begonia section Coelocentrum) and the other in the Neotropics (Begonia section Gireoudia), revealed recent expansion in LTR retrotransposons (LTR-RTs) and satellite DNA, in contrast to more species-poor closely related clades. We further investigate variation in repetitive elements within species, finding that accessions from a population of the widespread Begonia heracleifolia with unusually large genomes show a markedly higher satellite repeat and Ty3/Gypsy LTR-RT content associated with the expansion of a few abundant repeat lineages. We find that accessions derived from this population show lower seed viability in crosses with other conspecific populations, and thus identify a direct link between expansions of repetitive DNA and the process of genetic isolation. These results show how genome dynamics may promote speciation in one of the most diverse flowering plant genera.

genomics↗

bioRxiv2024

Benchmarking of Low Coverage Sequencing Workflows for Precision Genotyping in Eggplant

Low-coverage whole-genome sequencing (lcWGS) presents a cost-effective solution for genotyping, particularly in applications requiring high marker density and reduced costs. In this study, we evaluated lcWGS for eggplant genotyping using eight founder accessions from the first eggplant MAGIC population (MEGGIC), testing various sequencing coverages and minimum depth of coverage (DP) thresholds with two SNP callers, Freebayes and GATK. Reference SNP panels were used to estimate the percentage of common biallelic SNPs (i.e, true positives, TP) relative to the low coverage datasets (accuracy) and the SNP panels themselves (sensitivity), along with the percentage of TP with the same genotype across the two datasets (genotypic concordance). Sequencing coverages as low as 1X and 2X achieved high accuracy but lacked sufficient sensitivity and genotypic concordance. However, 3X sequencing reached approximately 10% less sensitivity than 5X while maintaining genotypic concordance above 90% at any DP threshold. Freebayes outperformed GATK in terms of sensitivity and genotypic concordance. Therefore, we used this software to conduct a pilot test with some MEGGIC lines from the fifth generation of selfing (S5), comparing their datasets with a gold standard (GS). Sequencing coverages as low as 1X identified a substantial number of TP, with 3X significantly increasing the yield, particularly at moderate DP thresholds. Additionally, at least 30% of the TP were consistently genotyped in all lines when using coverages greater than 2X, regardless of the DP threshold applied. This study highlights the importance of using a GS to reduce false positives and demonstrates that lcWGS, with proper filtering, is a valuable alternative to high-coverage sequencing for eggplant genotyping, with potential applications to other crops.

genomics↗

bioRxiv2023

HISTONE DEACETYLASE 19 REGULATES SHOOT MERISTEMLESS EXPRESSION IN THE CARPEL MARGIN MERISTEM CONTRIBUTING TO OVULE NUMBER DETERMINATION AND TRANSMITTING TRACT DIFFERENTIATION

The gynoecium is critical for the reproduction of flowering species as it contains the ovules and the tissues required for pollen germination and guidance. These tissues are collectively known as the reproductive tract (ReT) and comprise stigma, style and transmitting tract (TT). The ovules and the ReT originate from a meristem within the pistil named carpel margin meristem (CMM). SHOOT MERISTEMLESS (STM) is a key transcription factor required for meristem formation and maintenance. In all above-ground meristems, including the CMM, STM has to be locally downregulated to allow proper organ differentiation. However, how this downregulation is achieved in the CMM is unknown. In this work, we have studied HISTONE DEACETYLASE 19 (HDA19) role in ovule and ReT differentiation, based on the observation that hda19-3 mutant displays reduced ovule number and fails to properly differentiate the TT. Fluorescence activated cell sorting (FACS) coupled with RNA-seq revealed that in the CMM of hda19-3 mutant, genes promoting organ development are downregulated while meristematic markers, including STM, are upregulated. We found that HDA19 is fundamental to downregulate STM in the CMM, allowing ovule formation and TT differentiation. STM is ectopically expressed in hda19-3 at intermediate stages of pistil development, and its downregulation by RNA interference alleviated hda19-3 phenotypic defects. Furthermore, chromatin immunoprecipitation assays indicated that STM is a direct target of HDA19 during pistil development and that SEEDSTICK (STK) is required for the histone acetylation-mediated regulation of STM. Our results have led to the identification of the factors required for STM silencing in the gynoecium allowing organogenesis and tissue differentiation from the CMM.

plant biology↗

bioRxiv2023

MetPlast: an R package to evaluate Metabolic Plasticity using Information Theory statistical framework

MetPlast, is an R package that provides the functionalities necessary to analyze biological samples metabolic plasticity. This package takes advantage of the statistical framework provided by the Information Theory to quantify and defined metabolic plasticity parameters. Using previous implemented formula based on Shannon entropy we automatize the calculation and visualization of a set of metabolic plasticity indexes including metabolic diversity, metabolome specialization, and metabolite specialization. We use a publicly available metabolic data set on tomato domestication to demonstrate the power of the present tool to evaluate changes in metabolic plasticity parameters. Thus, MetPlast represents a new and invaluable member of the computational metabolomics toolbox, that will certainly help scientists to unveil hidden information in cell metabolomic landscape. Availability and implementationFreely available at https://github.com/danlucio86/MetPlast

bioinformatics↗

bioRxiv2022

A multi-omic Nicotiana benthamiana resource for fundamental research and biotechnology

Nicotiana benthamiana is an invaluable model plant and biotechnology platform. To further improve its usefulness and versatility, we have produced high quality chromosome level genome assemblies and multi-omic datasets for both the ubiquitously used LAB strain and a distantly related wild accession, QLD, as well as mapping their single nucleotide polymorphisms with two additional laboratory and four additional wild accessions. LAB and QLD have many genetic, functional, and metabolic differences. These coupled with their high inter-fertility and equally efficient transient and stable transformation and genome editing provide a powerful resource partnership. Their [~]3Gb allotetraploid genomes show advanced diploidisation with major chromosome loss and rearrangement, extensive homoeologous gene loss, and widespread segmental allopolyploidy. Recent bursts of Copia mobility, not seen in other Nicotiana genomes, have probably aided N. benthamianas adaptation to a spectrum of Australian ecologies.

plant biology↗

bioRxiv2020

K-seq, an affordable, reliable, and open Klenow NGS-based genotyping technology

K-seq, a new genotyping methodology based on the amplification of genomic regions using two steps of Klenow amplification with short oligonucleotides, followed by standard PCR and Illumina sequencing, is presented. The protocol was accompanied by software developed to aid with primer set design. As the first examples, K-seq in species as diverse as tomato, dog and wheat was developed. K-seq provided genetic distances similar to those based on WGS in dogs. Experiments comparing K-seq and GBS in tomato showed similar genetic results, although K-seq had the advantage of finding more SNPs for the same number of Illumina reads. The technology reproducibility was tested with two independent runs of the tomato samples, and the correlation coefficient of the SNP coverages between samples was 0.8 and the genotype match was above 94%. K-seq also proved to be useful in polyploid species. The wheat samples generated specific markers for all subgenomes, and the SNPs generated from the diploid ancestors were located in the expected subgenome with accuracies greater than 80%. K-seq is an open, patent-unencumbered, easy-to-set-up, cost-effective and reliable technology ready to be used by any molecular biology laboratory without special equipment in many genetic studies.

genetics↗

bioRxiv2020

DeepTE: a computational method for de novo classification of transposons with convolu-tional neural network

MotivationTransposable elements (TEs) classification is an essential step to decode their roles in genome evolution. With a large number of genomes from non-model species becoming available, accurate and efficient TE classification has emerged as a new challenge in genomic sequence analysis. ResultsWe developed a novel tool, DeepTE, which classifies unknown TEs using convolutional neural networks. DeepTE transferred sequences into input vectors based on k-mer counts. A tree structured classification process was used where eight models were trained to classify TEs into super families and orders. DeepTE also detected domains inside TEs to correct false classification. An additional model was trained to distinguish between non-TEs and TEs in plants. Given unclassified TEs of different species, DeepTE can classify TEs into seven orders, which include 15, 24, and 16 super families in plants, metazoans, and fungi, respectively. In several benchmarking tests, DeepTE outperformed other existing tools for TE classification. In conclusion, DeepTE successfully leverages convolutional neural network for TE classification, and can be used to precisely identify and annotate TEs in newly sequenced eukaryotic genomes. AvailabilityDeepTE is accessible at https://github.com/LiLabAtVT/DeepTE Contactsongli@vt.edu

bioinformatics↗

bioRxiv2017

The genomic architecture of a rapid island radiation: mapping chromosomal rearrangements and recombination rate variation in Laupala

Phenotypic evolution and speciation depend on recombination in many ways. Within populations, recombination can promote adaptation by bringing together favorable mutations and decoupling beneficial and deleterious alleles. As populations diverge, cross-over can give rise to maladapted recombinants and impede or reverse diversification. Suppressed recombination due to genomic rearrangements, modifier alleles, and intrinsic chromosomal properties may offer a shield against maladaptive gene flow eroding co-adapted gene complexes. Both theoretical and empirical results support this relationship. However, little is known about this relationship in the context of behavioral isolation, where co-evolving signals and preferences are the major hybridization barrier. Here we examine the genomic architecture of recently diverged, sexually isolated Hawaiian swordtail crickets (Laupala). We assemble a de novo genome and generate three dense linkage maps from interspecies crosses. In line with expectations based on the species recent divergence and successful interbreeding in the lab, the linkage maps are highly collinear and show no evidence for large-scale chromosomal rearrangements. The maps were then used to anchor the assembly to pseudomolecules and estimate recombination rates across the genome. We tested the hypothesis that loci involved in behavioral isolation (song and preference divergence) are in regions of low interspecific recombination. Contrary to our expectations, a genomic region where a male song QTL co-localizes with a female preference QTL was not associated with particularly low recombination rates. This study provides important novel genomic resources for an emerging evolutionary genetics model system and suggests that trait-preference co-evolution is not necessarily facilitated by locally suppressed recombination.

evolutionary biology↗

bioRxiv2017

De-novo assembly of zucchini genome reveals a whole genome duplication associated with the origin of the Cucurbita genus

The Cucurbita genus (squashes, pumpkins, gourds) includes important domesticated species such as C. pepo, C. maxima and C. moschata. In this study, we present a high-quality draft of the zucchini (C. pepo) genome. The assembly has a size of 263 Mb, a scaffold N50 of 1.8 Mb, 34,240 gene models, includes 92% of the conserved BUSCO core gene set, and it is estimated to cover 93.0% of the genome. The genome is organized in 20 pseudomolecules, that represent 81.4% of the assembly, and it is integrated with a genetic map of 7,718 SNPs. Despite its small genome size three independent evidences support that the C. pepo genome is the result of a Whole Genome Duplication: the topology of the gene family phylogenies, the karyotype organization, and the distribution of 4DTv distances. Additionally, 40 transcriptomes of 12 species of the genus were assembled and analyzed together with all the other published genomes of the Cucurbitaceae family. The duplication was detected in all the Cucurbita species analyzed, including C. maxima and C. moschata, but not in the more distant cucurbits belonging to the Cucumis and Citrullus genera, and it is likely to have happened 30 {+/-} 4 Mya in the ancestral species that gave rise to the genus.

genomics↗