Biology subjects

da Fonseca, R. R.

Publications and source records attributed to da Fonseca, R. R..

8 recordsLinked to original sources

bioRxiv2026

The Vertebrate Genomes Project Phase I: A global reference genome resource

The Vertebrate Genomes Project (VGP) aims to produce complete and near-error-free reference genomes for all [~]70,000 extant vertebrate species1. Organized in four phases, it progressively targets all vertebrate orders, families, genera, and eventually all species. Here we present the completion of VGP Phase I, delivering reference genomes for [~]95% of vertebrate orders, along with additional lineages within those orders, totaling 816 species and 1.6 trillion base pairs of main haplotype sequence. These genomes were assembled and annotated over an 8-year period (2018-2026) of rapid advances in genome sequencing, assembly, and annotation methods2-4, alongside the growth of associated consortium initiatives and international collaborations5-9. They represent some of the highest-quality vertebrate genomes currently available, and most have become the primary reference for their respective species in public databases. Comparative analyses across a subset of 579 species when we reached a threshold of 85% of orders allowed us to reconstruct the genome of the last common ancestor of all vertebrates 500 million years ago, identify diverse modes of sex chromosome evolution, reveal clade-specific three-dimensional genome architecture, discover methylated epigenetic landscapes across vertebrates, and provide a framework for studying gene and pseudogene evolution, immune loci, cancer-associated genes, and other trait-associated loci. Approximately a quarter of this subset are listed as Vulnerable to Critically Endangered by the IUCN Red List of Threatened Species, and have enabled more advanced genomic investigations of extinction risk. VGP Phase I delivers a reference backbone for vertebrate genomics, enabling discoveries that would otherwise remain out of reach across evolution, conservation, and medicine. Talking pointsO_LIThe flagship paper of VGP Phase I C_LIO_LIThe highest quality collection of genomes within the eukaryotic domain of life C_LIO_LIEvolution of genome sequencing technology quality throughout VGP Phase I C_LIO_LIA driver project that has been a model for multiple large-scale, high-quality reference genome projects C_LIO_LIReleases all currently unpublished genomes in Phase I from scientific study embargoes C_LIO_LIMultiple biological discoveries across the vertebrate tree of life C_LI

genomics↗

bioRxiv2026

A time-calibrated phylogeny of hummingbirds supports stepwise diversification in the Andes

Hummingbirds (Trochilidae) represent the second largest avian family, with [~]356 species occupying diverse habitats across the Neotropical and Nearctic regions. Their extensive diversification includes notable adaptations to extreme environments, with nearly one-third of extant taxa belonging to the predominantly high-altitude Coquettes and Brilliants. Although recent work proposed a monophyletic Andean clade uniting these groups, consistent with rapid radiation during Andean orogeny, we find no support for this relationship. Using 2,949 nuclear loci sampled from 47 species spanning all nine major hummingbird clades, we recover a different evolutionary pattern: a stepwise sequence of diversification in which Brilliants are sister to a broader assemblage comprising Coquettes, the genus Patagona, Emeralds, Mountain Gems, and the recently diverged Bees. By assembling complete mitochondrial genomes, we additionally detect significant discordance between nuclear topologies and those derived from the mitogenome and Z chromosome. Analyses of gene-tree heterogeneity show that incomplete lineage sorting is pervasive across the phylogeny, with particularly strong impacts on branches associated with Andean diversification. Divergence-time estimation further indicates that the major Andean radiation--including Brilliants, Coquettes, Emeralds, Bees, and Mountain Gems--originated around [~]14 Ma, with the three younger clades diversifying [~]12 Ma, coinciding with both the mid-Miocene Andean uplift and the mid-Miocene Climate Transition that increased habitat heterogeneity and likely promoted rapid speciation. To support future phylogenomic efforts, we identify a reduced set of highly informative, independent protein-coding loci and present a near-complete species-level phylogeny constrained by our autosomal backbone. Our findings highlight the importance of integrating loci with distinct inheritance modes to detect and interpret phylogenetic incongruence in rapid radiations.

evolutionary biology↗

bioRxiv2025

Historic Overexploitation, Genetic Erosion and Local extinction: Palaeogenomic Insights into the Decline of Eubalaena glacialis in the Northeast Atlantic

The North Atlantic right whale (Eubalaena glacialis) was the primary target for early industrial whalers, particularly the Basques. Once widespread across temperate and subpolar waters on both sides of the North Atlantic, the species is now functionally extinct in the Northeast Atlantic and listed as critically endangered by the IUCN. Despite their fragmentary remains, bones are abundant in the archaeological and historical records and reveal a long history and extensive tradition connected to the exploitation of these marine resources. Using state-of-the-art ancient DNA techniques, here we aimed at genetically characterizing the lost Northeast Atlantic population. We sequenced 17 genomes from historical specimens collected in the Cantabrian Sea, dating from the 13th-18th century, and compared them with available genomes for 12 individuals from the surviving Northwest Atlantic population. Our analyses reveal a historically panmictic population and document a dramatic decline in genetic diversity from the Middle Ages to the present. These findings illuminate the profound impact of centuries of whaling, which eradicated the Northeast Atlantic population and severely depleted genetic diversity in the remnant population.

evolutionary biology↗

bioRxiv2025

DNA from cetariae fish remains confirms sardine (Sardina pilchardus) use and local population continuity in Northwestern Iberia since Roman times

The Romans were among the first to extensively exploit fish resources, establishing large-scale salting and preservation plants. Small pelagic fish were fermented to produce sauces like garum. Here, we recover DNA from specimens collected at Adro Vello (O Grove), Galicia, dating to the 3rd century AD. Whole genome resequencing, confirmed these as European sardines (Sardina pilchardus) and assigns all samples to a population ranging from North Morocco to the Bay of Biscay. The low admixture levels in ancient samples suggest lower connectivity in Roman times. This overlooked archaeological material can enhance our understanding of past subsistence economy, culture, and diet.

evolutionary biology↗

bioRxiv2023

Fertilizer and cultivar affect the barley rhizobiome, while domestication age only affects growth at low nutrient levels

Modern plant breeding has provided barley cultivars that produce high yields when supplied with ample amounts of mineral fertilizer. This narrow selection criterion may have reduced key traits facilitating vital microbiome-plant interactions. Here, we investigated the performance of three old and four modern barley cultivars grown at different fertilizer regimes and assessed the root microbiome composition using 16s rRNA amplicon sequencing. The objectives were to investigate: i) nutrient availability effects on nutrient uptake and biomass production and, ii) how domestication age, cultivar, and fertilizer treatment affect the root microbiome. Without fertilizer, old cultivars outperformed modern ones in terms of biomass and had higher leaf concentration of nitrogen, potassium, sulphur, iron, zinc, and copper. This suggests that older barley cultivars retained the ability of their wild ancestor to collaborate with the soil microbiome resulting in improved nutrient acquisition in low-input systems. Interestingly, domestication age did not significantly affect the diversity of the rhizo-microbiome, which was instead dependent on individual cultivar and fertilizer treatment. HighlightOlder barley cultivars outperform the modern ones in terms of biomass at low nutrient availability. However, the rhizo-microbial diversity depended on the individual cultivar and fertilizer regime.

plant biology↗

bioRxiv2020

The Crown Pearl: a draft genome assembly of the European freshwater pearl mussel Margaritifera margaritifera (Linnaeus, 1758)

Since historical times, the inherent human fascination with pearls turned the freshwater pearl mussel Margaritifera margaritifera (Linnaeus, 1758) into a highly valuable cultural and economic resource. Although pearl harvesting in M. margaritifera is nowadays residual, other human threats have aggravated the species conservation status, especially in Europe. This mussel presents a myriad of rare biological features, e.g. high longevity coupled with low senescence and Doubly Uniparental Inheritance of mitochondrial DNA, for which the underlying molecular mechanisms are poorly known. Here, the first draft genome assembly of M. margaritifera was produced using a combination of Illumina Paired-end and Mate-pair approaches. The genome assembly was 2,4 Gb long, possessing 105,185 scaffolds and a scaffold N50 length of 288,726 bp. The ab initio gene prediction allowed the identification of 35,119 protein-coding genes. This genome represents an essential resource for studying this species unique biological and evolutionary features and ultimately will help to develop new tools to promote its conservation.

genomics↗

bioRxiv2018

Consequences of breed formation on patterns of genomic diversity and differentiation: the case of highly diverse peripheral Iberian cattle

BackgroundIberian primitive breeds exhibit a remarkable phenotypic diversity over a very limited geographical space. While genomic data are accumulating for most commercial cattle, it is still lacking for these primitive breeds. Whole genome data is key to understand the consequences of historic breed formation and the putative role of earlier admixture events in the observed diversity patterns.\n\nResultsWe sequenced 48 genomes belonging to eight Iberian native breeds and found that the individual breeds are genetically very distinct with FST values ranging from 4 to 16% and have levels of nucleotide diversity similar or larger than those of their European counterparts, namely Jersey and Holstein. All eight breeds display significant gene flow or admixture from African taurine cattle and include mtDNA and Y-chromosome haplotypes from multiple origins. Furthermore, we detected a very low differentiation of chromosome X relative to autosomes within all analyzed taurine breeds, potentially reflecting male-biased gene flow.\n\nConclusionsOur results show that an overall complex history of admixture resulted in unexpectedly high levels of genomic diversity for breeds with seemingly limited geographic ranges that are distantly located from the main domestication center for taurine cattle in the Near East. This is likely to result from a combination of trading traditions and breeding practices in Mediterranean countries. We also found that the levels of differentiation of autosomes vs sex chromosomes across all studied taurine and indicine breeds are likely to have been affected by widespread breeding practices associated with male-biased gene flow.

evolutionary biology↗

bioRxiv2018

Identifying loci under positive selection in complex population histories

Detailed modeling of a species history is of prime importance for understanding how natural selection operates over time. Most methods designed to detect positive selection along sequenced genomes, however, use simplified representations of past histories as null models of genetic drift. Here, we present the first method that can detect signatures of strong local adaptation across the genome using arbitrarily complex admixture graphs, which are typically used to describe the history of past divergence and admixture events among any number of populations. The method--called Graph-aware Retrieval of Selective Sweeps (GRoSS)--has good power to detect loci in the genome with strong evidence for past selective sweeps and can also identify which branch of the graph was most affected by the sweep. As evidence of its utility, we apply the method to bovine, codfish and human population genomic data containing multiple population panels related in complex ways. We find new candidate genes for important adaptive functions, including immunity and metabolism in under-studied human populations, as well as muscle mass, milk production and tameness in specific bovine breeds. We are also able to pinpoint the emergence of large regions of differentiation due to inversions in the history of Atlantic codfish.

evolutionary biology↗