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Biology subjects

Pereira, L.

Publications and source records attributed to Pereira, L..

At least 19 recordsLinked to original sources

Tunable Expression of an AAV Payload Using ADAR-mediated RNA Editing

A challenge of "once-and-done" adeno associated virus (AAV)-based gene therapy is the inability to modulate the level of therapeutic protein expression post-administration. Herein, we demonstrate the utility of an adenosine deaminase acting on RNA (ADAR) - mediated gene switch to control AAV-delivered gene expression. Using a premature termination codon (PTC) in the human Factor IX (hFIX) transgene, we established an ON switch, where expression of hFIX is contingent on rescuing the PTC mutation via RNA editing. In vitro and in vivo studies demonstrated silencing of the hFIX transgene by the PTC mutation and induction of protein expression by administration of an ADAR-recruiting trigger RNA. Mice transduced with a hepatotropic AAV capsid encoding an ApoE-hAAT hFIX-PTC transgene expression cassette showed a dose-dependent response between the levels of LNP-delivered trigger RNA and the amount of plasma hFIX expression achieved. We observed predictable and reproducible levels of hFIX expression upon multiple rounds of RNA editing and demonstrated that this system can achieve clinically relevant levels of hFIX. This work suggests that ADAR-mediated RNA editing may be a valuable tool for tunable expression of therapeutic transgenes in applied gene therapies.

synthetic biology↗

Continuous monitoring of plant transpiration dynamics with a leaf-mounted sensor across environmental conditions

O_LITranspiration plays a central role in plant water relations and strongly influences plant growth. Continuous monitoring is essential for understanding responses to environmental conditions and improving water management in both natural and agricultural systems. Gas-exchange techniques such as infrared gas analysers (IRGAs) and porometers are widely used but are challenging for long-term or large-scale monitoring. On the other hand, the FylloClip is a low-cost, leaf-mounted capacitance sensor developed previously to monitor transpiration by detecting condensation of water vapour near the leaf surface. Here, we evaluated the potential of the FylloClip for monitoring transpiration dynamics and assessed environmental conditions that may affect its performance. C_LIO_LIThe FylloClip was tested under growth chamber, greenhouse, and tropical field conditions. We evaluated how its capacitance measurements respond to rainfall, temperature and humidity, and compared FylloClip measurements with transpiration measured with an IRGA. C_LIO_LIThere was a strong correlation (r = 0.85) between FylloClip and IRGA data. Both systems captured similar diurnal transpiration patterns, with transpiration declining simultaneously under water deficit. Rainfall and very high relative humidity produced FylloClip signals that could be misinterpreted as high transpiration, although transpiration is negligible under these conditions. C_LIO_LIOur results revealed that FylloClips capture temporal patterns of transpiration with high accuracy and resolution, providing a reliable tool for long-term, large-scale monitoring of transpiration dynamics in ecophysiological studies and precision agriculture. C_LI

Plant Biology↗

Horizontal gene transfer fuels metabolic innovation in the grass Zuloagaea bulbosa

Horizontal gene transfer (HGT) allows the movement of DNA across broad evolutionary distances without sexual reproduction. In grasses, HGT is widespread and although a few horizontally transferred genes (HTG) are adaptive, most are purged over time. Within the adaptive HTG, biosynthetic genes encoding enzymes that act together in the same pathway and physically co-localise in clusters have been reported multiple times. The aims of this study are to test whether HGT is bidirectional in a pair of grass species, maize and Zuloagaea bulbosa, and if HTGs are found more than expected by chance in biosynthetic genes organised in clusters. To achieve this, we firstly generated a phased reference genome for Z. bulbosa. Then we identified 56 candidate horizontally transferred genes, of which 45% were from Andropogoneae, including two likely to be of maize origin. Since transfers from Z. bulbosa to maize were previously described, our results show that HGT is bidirectional, although the balance might not be even. After predicting all biosynthetic gene clusters in the Z. bulbosa genome, we found that HTGs are enriched in biosynthetic genes organised in clusters. This correlation between HGT and gene clustering is likely to be a consequence of selection due to the immediate adaptive benefit a whole pathway can provide. Two of the HTGs from Andropogoneae belong to the benzoxazinoid BGC, which previously underwent an ancestral transfer from Panicoideae into Pooideae. The dynamism of biosynthetic gene clusters, including recurrent horizontal gene transfers, contributes to the extraordinary metabolic diversity present in plants. Significance statementHorizontal gene transfer (HGT) is a significant driver of evolution that is widespread in grasses. In this study, we show for the first time reciprocal transfer of DNA between maize and another Mexican grass, Zuloagaea bulbosa. This result represents a proof of concept of bidirectional HGT which allows for limited, recurrent gene flow among distant species. Furthermore, we show that horizontally transferred genes are enriched for biosynthetic genes organised in biosynthetic gene clusters, regions of the genome that encode for multiple enzymes that act in the same biosynthetic pathway. We hypothesise that the transfer of a complete multi-genic pathway, ready to be used and potentially offering an evolutionary advantage, might promote a predominant retention of gene clusters in comparison with background HGT.

genomics↗

The trypanosome mRNA decapping enzyme ALPH1 prefers caps without m7G methylation and produces diphosphate-RNA

5'ends of eukaryotic mRNAs are protected by the m7G cap, connected to the mRNA via a three-phosphate-bridge. In mRNA decay, the pyrophosphate bond between the and {beta} phosphate is cleaved by the nudix hydrolase DCP2. Uniquely among eukaryotes, Kinetoplastida lack DCP2 and instead employ the ApaH-like phosphatase ALPH1 for mRNA decapping. ALPH1 consists of an unstructured N-terminus, a catalytic domain and a structured C-terminus that mediates ALPH1 dimerisation. Here, we have analysed Trypanosoma brucei ALPH1 in greater detail. We find that the enzyme has broad substrate specificity and accepts different cap types and even cap analogues. Strikingly, cap-analogues and RNAs without the m7G-methyl group are turned over significantly faster than m7G methylated substrates. Moreover, all methylated and non-methylated cap analogues tested, with at least one additional nucleotide 3' to the NpppN moiety are cleaved at the {beta}-{gamma} pyrophosphate bond, producing the equivalent to a 5 diphosphate-RNA. While the presence of the ALPH1 C-terminal domain is essential for cell viability and increases enzyme activity in vitro, substrate preferences are determined solely by the catalytic domain. Altogether, these ALPH1 enzymatic properties exhibit intriguing differences to the canonical eukaryotic decapping enzyme DCP2, which we critically discuss and which potentially have biotechnological applications.

molecular biology↗

Regulatory features determine the evolutionary fate of laterally acquired genes in plants

Lateral gene transfer (LGT) is widespread in eukaryotes, including in animals and plants where it can fuel adaptive evolution and innovation. However, the factors that influence the integration and long-term retention of transferred genes remain poorly understood. The pangenome of the grass Alloteropsis has a high turnover of laterally acquired genes, and here we combine expression, methylation and genomic data to identify factors promoting their long-term persistence. Most transferred genes appear to be degenerating, showing lower expression levels and/or greater sequence truncation compared to their vertically inherited homologs. These degenerating genes also show significantly higher levels of DNA methylation, potentially indicating transcriptional silencing. The likelihood of a transferred gene being retained will be influenced by how easily it can be expressed in the recipient genome. In Alloteropsis, putatively functional laterally acquired genes had expression levels significantly more similar to their donor xenolog than to their vertically inherited homolog. This pattern suggests that transferred genes may carry cis-regulatory elements encoded on the fragment of DNA that moves between species, facilitating their expression in the new genomic context. Evolutionary novelty may also increase the likelihood that selection retains a transferred gene. However, only a significant difference in expression level, not sequence divergence, between donor and recipient orthologs is associated with successful lateral gene transfer. Overall, our results show that most transferred genes degrade over time. However, those capable of regulating their own expression are more likely to persist and contribute to long-term evolutionary innovation. Significance StatementLateral gene transfer (LGT) can introduce novel traits into plant genomes, yet most transferred genes are only transient residents and are degenerating, with reduced expression, truncation, and elevated DNA methylation. However, a minority persist and are more likely to resemble their donor counterparts in expression, suggesting co-transfer of cis-regulatory elements. These findings indicate that regulatory compatibility is key to their long-term survival.

evolutionary biology↗

Harnessing the Potential of Cape Wild Edible Plants: Nutritional insights, Gaps and Priorities

O_LIRationale: Wild edible plants of the Greater Cape Floristic Region (GCFR) of South Africa have piqued recent interest from multiple sectors due to their potential to contribute to the Western Capes food systems. However, cultivation efforts remain hindered due to a lack of nutritional knowledge. C_LIO_LIMethods: This systematic literature review establishes nutritional knowledge gaps and priorities for a selection of the regions wild edible plants and uses the existing nutritional data to summarize the proportionate contributions that these species can make to daily dietary requirements. C_LIO_LIKey results: We find that winter rainfall/GCFR species are poorly researched, and more so than summer rainfall species in terms of a) nutritional status studied and b) number of key nutrients tested in each species. We also identify key winter rainfall species (e.g. Carpobrotus edulis, Tulbaghia violaceae and Trachyandra falcata) that show high potential to address nutritional deficits of the region. C_LIO_LIConclusion: Although we find nutritional data to be sparse, that which exists suggests high nutritive potential of wild edible plants of the GCFR. We also identify priority species for future nutritional study and cultivation to enhance local food systems using the bounty offered by this biodiversity hotspot. C_LI Societal impact statementThis study highlights the potential of wild edible plants in the Greater Cape Floristic Region (GCFR) to enhance food security and nutritional health in the Western Cape. By identifying nutritious species like Carpobrotus edulis, and poorly researched yet nutritious species like Tulbaghia violaceae, and Trachyandra falcata, we emphasize the role of GCFR edible plants in addressing deficiencies and promoting diversity of diets. Cultivating these plants can stimulate local agriculture, support sustainable practices, and empower communities. Ultimately, our findings advocate for reintegrating wild edible plants into local food systems, fostering food sovereignty and resilience while reducing reliance on global supply chains.

ecology↗

Gene turnover and contingency facilitated the repeated evolution of C4 photosynthesis in grasses

SummaryO_LIIn grasses, almost all species belong to two evenly sized clades (BOP and PACMAD), yet the >20 independent origins of C4 photosynthesis in this family only occur in the PACMAD lineage. Here, we identify potential genetic precursors for C4 photosynthesis that were present at the base of the PACMAD clade, representing the last common ancestor of all C4 grasses. C_LIO_LIWe generated the first reference genomes for Aristidoideae species (Aristida adscensionis and Stipagrostis hirtigluma), the sister lineage of all other PACMAD grasses. In combination with 34 other Poales genomes, we identify gene gains at the base of the PACMAD clade, and genes lost in the sister BOP lineage. C_LIO_LICandidate C4 precursors include {beta}-carbonic anhydrase, as well as genes involved in amino acid and nitrate transport, carbon metabolism, oxidative stress management and transcription regulation. C_LIO_LIGene turnover created the necessary genetic contingency, facilitating the independent recruitment and refinement of C4 genes in multiple independent origins. Our results support the idea that the repeated evolution of C4 photosynthesis in PACMAD grasses was not driven by a single genetic event but was instead underwritten by chance genetic changes that originated long before there was selection for the trait itself. C_LI

evolutionary biology↗

Time-based shifts in xylem vulnerability curves of angiosperms based on the flow-centrifuge method

Centrifuges provide a fast and standard approach to quantify embolism resistance of xylem in vulnerability curves (VCs). Traditionally, embolism formation in centrifuge experiments is assumingly driven by centrifuge speed, and thus pressure, but unaffected by spin time. Here, we explore to what extent embolism resistance is not only pressure but also spin time dependent, and hypothesise that time-stable hydraulic conductivity (Kh) values could shift VCs. We quantified time-based shifts in flow- centrifuge VCs and their parameter estimations for six angiosperm species by measuring Kh at regular intervals over 15 minutes of spinning at a particular speed before a higher speed was applied to the same sample. We compared various VCs per sample based on cumulative spin time, and modelled the relationship between Kh, xylem water potential ({Psi}), and spin time. Time-based changes of Kh showed considerable increases and decreases at low and high centrifuge speeds, respectively, which generally shifted VCs towards more positive {Psi} values. Values corresponding to 50% loss of hydraulic conductivity (P50) increased up to 0.72 MPa in Acer pseudoplatanus, and on average by 8.5% for all six species compared to VCs that did not consider spin time. By employing an asymptotic exponential model, we estimated time-stable Kh, which improved the statistical significance of VCs in 5 of the 6 species studied. This model also revealed the instability of VCs at short spin times, and showed that embolism formation in flow-centrifuges followed a saturating exponential growth curve. Although pressure remains the major determinant of embolism formation, spin time should be considered in flow- centrifuge VCs to avoid overestimation of embolism resistance. This spin-time artefact is species- specific, and likely based on relatively slow gas diffusion associated with embolism spreading. It can be minimized by determining time-stable Kh values for each centrifuge speed, without considerably extending the experimental time to construct VCs.

plant biology↗

Identifying leaf anatomy and metabolic regulators that underpin C4 photosynthesis in Alloteropsis semialata

O_LIC4 photosynthesis is a complex trait requiring multiple developmental and metabolic alterations. Despite this complexity, it has independently evolved over 60 times. However, our understanding of the transition to C4 is complicated by the fact that variation in photosynthetic type is usually segregated between species. C_LIO_LIHere, we perform a genome wide association study (GWAS) using the grass Alloteropsis semialata, the only known species to have C3, intermediate, and C4 accessions. We aimed to identify genomic regions associated with the strength of the C4 cycle (measured using {delta}13C), and the development of C4 leaf anatomy. C_LIO_LIGenomic regions correlated with {delta}13C include regulators of C4 decarboxylation enzymes (RIPK), non-photochemical quenching (SOQ1), and the development of Kranz anatomy (SCARECROW-LIKE). Regions associated with the development of C4 leaf anatomy in the intermediate accessions contain additional leaf anatomy regulators, including those responsible for vein patterning (GSL8) and meristem determinacy (GRF1). C_LIO_LIThe detection of highly correlated genomic regions with a modest sample size indicates that the emergence of C4 photosynthesis in A. semialata required a few loci of large effect. The candidate genes could prove to be relevant for engineering C4 leaf anatomy in C3 species. C_LI

plant biology↗

A Parasite Odyssey: An RNA virus concealed in Toxoplasma gondii

We are entering a "Platinum Age of Virus Discovery", an era marked by exponential growth in the discovery of virus biodiversity, and driven by advances in metagenomics and computational analysis. In the ecosystem of a human (or any animal) there are more species of viruses than simply those directly infecting the animal cells. Viruses can infect all organisms constituting the microbiome, including bacteria, fungi, and unicellular parasites. Thus the complexity of possible interactions between host, microbe, and viruses is unfathomable. To understand this interaction network we must employ computationally-assisted virology as a means of analyzing and interpreting the millions of available samples to make inferences about the ways in which viruses may intersect human health. From a computational viral screen of human neuronal datasets, we identified a novel narnavirus Apocryptovirus odysseus (Ao) which likely infects the neurotropic parasite Toxoplasma gondii. Previously, several parasitic protozoan viruses (PPVs) have been mechanistically established as triggers of host innate responses, and here we present in silico evidence that Ao is a plausible pro-inflammatory factor in human and mouse cells infected by T. gondii. T. gondii infects billions of people worldwide, yet the prognosis of toxoplasmosis disease is highly variable, and PPVs like Ao could function as a hitherto undescribed hypervirulence factor. In a broader screen of over 7.6 million samples, we explored phylogenetically-proximal viruses to Ao and discovered 19 Apocryptovirus species, all found in libraries annotated as vertebrate transcriptome or metatranscriptomes. While the Narnavirus samples making up this genus-like clade are derived from sheep, goat, bat, rabbit, chicken, and pigeon samples, the presence of virus is strongly predictive of parasitic (Apicomplexa) nucleic acid co-occurrence, supporting that these are a clade of parasite-infecting viruses. This is a computational proof-of-concept study in which we rapidly analyze millions of datasets from which we distilled a mechanistically, ecologically, and phylogenetically refined hypothesis. We predict this highly diverged Ao RNA virus is biologically a T. gondii infection, and that Ao, and other viruses like it, will modulate this disease which afflicts billions worldwide.

microbiology↗

Cas13d-mediated isoform-specific RNA knockdown with a unified computational and experimental toolbox

Alternative splicing is an essential mechanism for diversifying proteins, in which mature RNA isoforms produce proteins with potentially distinct functions. Two major challenges in characterizing the cellular function of isoforms are the lack of experimental methods to specifically and efficiently modulate isoform expression and computational tools for complex experimental design. To address these gaps, we developed and methodically tested a strategy which pairs the RNA-targeting CRISPR/Cas13d system with guide RNAs that span exon-exon junctions in the mature RNA. We performed a high-throughput essentiality screen, quantitative RT-PCR assays, and PacBio long read sequencing to affirm our ability to specifically target and robustly knockdown individual RNA isoforms. In parallel, we provide computational tools for experimental design and screen analysis. Considering all possible splice junctions annotated in GENCODE for multi-isoform genes and our gRNA efficacy predictions, we estimate that our junction-centric strategy can uniquely target up to 89% of human RNA isoforms, including 50,066 protein-coding and 11,415 lncRNA isoforms. Importantly, this specificity spans all splicing and transcriptional events, including exon skipping and inclusion, alternative 5 and 3 splice sites, and alternative starts and ends.

genomics↗

Xylem sap residue in cut-open conduits can affect gas discharge in pneumatic experiments

O_LIConsiderable progress has been made in understanding the mechanisms of embolism formation based on the pneumatic method, which relies on gas discharge measurements. Here, we test the assumption that cut-open conduits are gas-filled when samples are cut at high water potentials. C_LIO_LIWe performed vulnerability curves (VC) with the Pneumatron and analysed sap extraction from cut-open vessels in Citrus branches, while the optical method was applied as a reference method. VCs of 11 additional angiosperms were analysed to generalise our findings. C_LIO_LIWe found an increase in gas discharge during early stages of dehydration, which affected the VC of Citrus. Xylem sap was not absorbed immediately by surrounding tissue in cut Citrus branches. The gas amount discharged increased until all sap residue was absorbed, which was near the turgor loss point. By analysing the slope of VCs, we could correct pneumatic VC, as evidenced by the strong agreement in embolism resistance between the pneumatic and the optical method. C_LIO_LISince residual sap in cut-open conduits of some species could slightly reduce embolism resistance in some species, we propose to apply an easy correction for this novel artefact. Automated measurements with a Pneumatron are also required because of its high time resolution. C_LI

plant biology↗

Gas diffusion kinetics drive embolism spread in angiosperm xylem: evidence from flow-centrifuge experiments and modelling

Understanding xylem embolism formation is challenging due to dynamic changes and multiphase interactions in conduits. If embolism spread involves gas movement in xylem, we hypothesise that it is affected by time. We measured hydraulic conductivity (Kh) in flow-centrifuge experiments over one hour at a given pressure and temperature for stem samples of three angiosperm species. Temporal changes in Kh at 5, 22, and 35{degrees}C, and at various pressures were compared to modelled gas pressure changes in a recently embolised vessel in the centre of a centrifuge sample. Temporal changes in Kh at 22{degrees}C showed maximum relative increases between 6% and 40%, and maximum decreases between 41% and 61% at low and high centrifugal speed, respectively. Logarithmic changes in Kh were species-specific, and most pronounced during the first 15 minutes. Embolism formation started near the edges of centrifuge samples and gradually increased at the centre. Moreover, measured decreases in Kh strongly correlated with modelled increases in gas concentration in a recently embolised vessel. Although embolism is mostly pressure-driven, our experimental and modelled data indicate that time, conduit characteristics, and temperature are involved due to their role in gas diffusion. Gas diffusion, however, does not cover the entire process of embolism spread.

plant biology↗

Development of a Plasmodium vivax biobank for functional ex vivo assays

BackgroundPlasmodium vivax is the second most prevalent cause of malaria yet remains challenging to study due to the lack of a continuous in vitro culture system, highlighting the need to establish a biobank of clinical isolates with multiple freezes per sample for use in functional assays. Different methods for cryopreserving parasite isolates were compared and subsequently the most promising one was validated. Enrichment of early- and late-stage parasites and parasite maturation were quantified to facilitate assay planning. MethodsIn order to compare cryopreservation protocols, nine clinical P. vivax isolates were frozen with four glycerolyte-based mixtures. Parasite recovery post thaw, post KCl-Percoll enrichment and in short-term in vitro culture was measured via slide microscopy. Enrichment of late-stage parasites by magnetic activated cell sorting (MACS) was measured. Short and long-term storage of parasites at either -80{degrees}C or liquid nitrogen were also compared. ResultsOf the four cryopreservation mixtures, one mixture (glycerolyte:serum:RBC at a 2.5:1.5:1 ratio) resulted in improved parasite recovery and statistically significant (P<0.05) enhancement in parasite survival in short-term in vitro culture. A parasite biobank was subsequently generated using this protocol resulting in a collection with 106 clinical isolates, each with 8 vials. The quality of the biobank was validated by measuring several factors from 47 thaws: the average reduction in parasitemia post-thaw (25.3%); the average fold enrichment post KCl-Percoll (6.65-fold); and the average percent recovery of parasites (22.0%, measured from 30 isolates). During short-term in vitro culture, robust maturation of ring stage parasites to later stages (>20% trophozoites, schizonts and gametocytes) was observed in 60.0% of isolates by 48 hours. Enrichment of mature parasite stages via MACS showed good reproducibility, with an average 30.0% post-MACS parasitemia and an average 5.30 x 105 parasites/vial. Finally, the effect of storage temperature was tested, and no large impacts from short-term (7 day) or long term (7 - 10 year) storage at -80{degrees}C on parasite recovery, enrichment or viability was observed. ConclusionsHere, an optimized freezing method for P. vivax clinical isolates is demonstrated as a template for the generation and validation of a parasite biobank for use in functional assays.

microbiology↗

Lianas in tropical dry forests have higher embolism resistance but similar hydraulic efficiency than lianas in rainforests

Lianas are increasing in relative abundance and biomass, mainly in seasonally dry forests, but it is unclear if this is associated with their hydraulic strategy. Here, we ask whether liana of seasonally dry forests are safer and more efficient in water transport than those of rainforest, which could explain liana distribution patterns and their recent increases. We measured hydraulic traits on five pairs of congeneric liana species (tribe Bignonieae) on one seasonal dry Atlantic forest and one Amazon rainforest. The predawn and minimum water potential, and the water potential at which 50% of the maximum gas amount was discharged were, on average, more negative in the liana species of the seasonal forest. However, these patterns were not constant at the genus level. The positive hydraulic safety margins and hydraulic efficiency were similar among species congeners across sites. The Bignonieae lianas studied likely experience equally low levels of embolism during drought, and maintain a high conductive capacity with efficient use of xylem space, which may favor survival and growth across tropical forests. The likely evolutionary convergence of high hydraulic safety associated with the opportunistic strategy of rapid growth, especially in disturbed areas can favor the abundant liana species in seasonal forests. HighlightTropical forest liana species have high hydraulic efficiency and high interspecific variability in hydraulic safety. Despite this variability, some seasonal forest liana species have greater hydraulic safety than rainforest lianas, indicating an evolutionary convergence across lineages.

plant biology↗

Serum Amyloid A proteins reduce bone mass during mycobacterial infections

Osteopenia has been associated to several inflammatory conditions, including mycobacterial infections. How mycobacteria cause bone loss remains elusive, but direct bone infection may not be required. Using genetically engineered mice and morphometric, transcriptomic and functional analyses, we found that infection with Mycobacterium avium impacts bone turnover by decreasing bone formation and increasing bone resorption, in a IFNg- and TNFa-dependent manner. IFNg produced during infection enhanced macrophage TNFa secretion, which in turn increased the production of serum amyloid A (SAA) 3. Saa3 expression was upregulated in the bone of both M. avium- and Mycobacterium tuberculosis-infected mice and SAA proteins were increased in the serum of patients with active tuberculosis. Furthermore, the increased SAA levels seen in active tuberculosis patients correlated with altered serum bone turnover markers. Additionally, human SAA proteins impaired bone matrix deposition and increased osteoclastogenesis in vitro. Overall, we report a novel crosstalk between the cytokine network operating in macrophages and bone homeostasis and disclose SAA proteins as potential biomarkers of bone loss during infection by mycobacteria.

immunology↗

Variation in the rate lateral gene transfers accumulate in a grass lineage

Lateral gene transfer (LGT) has been reported in multiple eukaryotes. This process seems particularly widespread in the grass family, although we know very little about the underlying dynamics and how it impacts gene content variation within a species. Alloteropsis semialata is a tropical grass, and multiple LGT were detected in a reference genome assembled from an Australian individual. As part of this study we assemble three additional de novo genomes for A. semialata and one for its sister species Alloteropsis angusta. In total we detect 168 LGT across the five reference genomes. Using whole-genome resequencing data for a further 40 individuals we establish the distribution of these transfers and map their origin along the species phylogeny. This shows that many LGTs were acquired relatively recently, with numerous secondary losses. Exponential decay models indicate that the rate of LGT acquisitions varied significantly among lineages [6-28 per Ma], with a high rate of subsequent LGT losses [11-24% per Ma] that largely exceeds that of native loci [0.02-0.8% per Ma]. This high turnover creates large intraspecific structural variants, with a preponderance of LGT occurring as accessory genes in the Alloteropsis pangenome. The acquired genes represent unparalleled genetic novelties, having independently evolved for tens of millions of years before they were transferred. Ultimately, the rapid LGT turnover generates standing variation that can fuel local adaptation.

evolutionary biology↗

Characterization of Arabian Peninsula whole exomes: exploring high inbreeding features

The exome (WES) capture enriched for UTRs on 90 Arabian Peninsula (AP) populations contributed nearly 20,000 new variants from a total over 145,000 total variants. Almost half of these variants were in UTR3, reflecting the low effort we have dedicated to cataloguing these regions, which can bear an important proportion of functional variants, as being discovered in genome-wide association studies. By applying several pathogenic predicting tools, we have demonstrated the high burden in potentially deleterious variants (especially in nonsynonymous and UTR variants located in genes that have been associated mainly with neurologic disease and congenital malformations) contained in AP WES, and the burden was as high as the consanguinity level (inferred as sum of runs of homozygosity, SROH) increased. Arabians had twice SROH values in relation to Europeans and East Asians, and within AP, Saudi Arabia had the highest values and Oman the lowest. We must pursuit cataloguing diversity in populations with high consanguinity, as the potentially pathogenic variants are not eliminated by genetic drift as much as in less consanguineous populations.

genetics↗