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Novoa, A.

Publications and source records attributed to Novoa, A..

14 recordsLinked to original sources

Normal Somitogenesis Despite the Absence of Snai1 in the Presomitic Mesoderm

During vertebrate somitogenesis, Snai1 is expressed dynamically in the presomitic mesoderm (PSM), oscillating in phase with core segmentation clock genes. Whether this reflects a functional requirement for Snai1 in clock activity has remained unresolved, largely because global or epiblast-specific loss of Snai1 causes early embryonic lethality. Here, we identify a conserved enhancer downstream of the Snai1 locus (SCDE) that recapitulates major domains of endogenous Snai1 expression, including the PSM, tailbud, cranial mesenchyme, branchial arches and forelimb buds. Functional dissection identifies two domains within this enhancer, B1 and B3, as partially redundant core regulatory elements that together account for most SCDE activity in the posterior mesoderm. Deletion of these modules strongly reduces Snai1 expression in the PSM while preserving its dynamic expression pattern and Lfng oscillations, without producing any detectable skeletal phenotype. To directly assess the requirement for Snai1, we generated conditional mutants lacking Snai1 throughout the posterior mesoderm, including the PSM. Despite the total absence of Snai1 expression in this area, these embryos show normal somite formation, compartmentalisation and segmentation clock activity. Unexpectedly, complete loss of Snai1 in this territory results in a fully penetrant gain of one pre-sacral vertebra, pointing to a role in fine-tuning axial segment number rather than in segmentation itself. Together, our findings identify SCDE as a bona-fide cis-regulatory element involved in the control of Snai1 expression in the PSM, uncouple its oscillatory expression from an essential role in the segmentation clock and suggest that this gene is dispensable for somitogenesis.

developmental biology↗

Cytogenomic signatures of hybridisation in the genus Carpobrotus reveal biased parental dominance

O_LIHybridisation is frequently associated with plant invasions; however, its consequences for genome organisation and chromosome evolution remain poorly understood in invasive species. We investigated the extent of hybridisation in the invasive Carpobrotus edulis--acinaciformis hybrid complex and determined the cytogenomic contribution of parental species in hybrid accessions. C_LIO_LIWe combined whole-genome sequencing, population genomic analyses, genome size estimation, repeatome characterisation, chromosome counting and fluorescence in situ hybridisation to compare parental species and hybrid accessions from South Africa and the Mediterranean Basin. C_LIO_LIPopulation genomic analyses revealed widespread hybridisation and introgression, with most invasive accessions showing admixed ancestries. Pattersons D-statistic supported asymmetric allele sharing towards C. edulis. Hybrid accessions displayed genome sizes indistinguishable from C. edulis, whereas C. acinaciformis possessed significantly larger genomes. Repeatome analyses identified marked differences in repetitive DNA composition, particularly in satellite DNA abundance and chromosomal distribution. A newly identified satellite repeat (CarpoSat) showed contrasting chromosomal patterns between parental species, whereas hybrids resembled C. edulis satellite pattern. C_LIO_LIOur results demonstrate that Carpobrotus hybrid accessions are a swarm of later-generation hybrids and backcrosses showing a strong bias towards C. edulis, indicating asymmetric introgression. These findings highlight the value of integrating cytogenetic and genomic approaches to understand genome evolution in invasive hybrid complexes. C_LI

plant biology↗

Can data mining from various internet platforms systematically accelerate detection of alien species invasions across the EU?

Invasive alien species (IAS) expansions are increasingly impacting the biodiversity and economy of Europe. To more effectively allocate the limited resources available for their management, it is pertinent to accelerate detection of IAS spread and distribution. One largely untapped secondary data source showing much potential lies in the automated tracking of internet activity such as IAS search intensity or mentions across different internet platforms. In this study, we tested if internet activity increases systematically when IAS expand into new EU countries utilizing the combined data of 88 invasive species from various internet platforms. In total, 14 internet platforms were screened and evaluated based on their database accessibility, mined data quality and utility for systematic IAS expansion tracking. We found that the procedure to obtain researcher access to minimal data required for IAS tracking (i.e., information about location, time and place) varies widely across platforms, and is particularly difficult without incurring significant costs for many of the larger ones (X, Google and Tiktok). From the explored species, more charismatic species (i.e., mammals) overall gained more online traction than more cryptic ones (i.e., plants), though online activity of the first proved a worse representation of real-world occurrence patterns. Moreover, while the final five selected internet platforms showed increased activity surrounding the year of invasion in many of the explored invasion scenarios (particularly Wikipedia and Facebook), inconsistencies between species groups, trends per platform and the large variability in data quality currently still hampers systematic integration of such data into existing databases. We conclude that combining IAS activity data from various internet platforms shows potential to accelerate IAS expansion detection across the EU (especially for fish, crustaceans, reptiles, birds and plants). However, incorporation in automated early warning systems is currently hampered by variable data quality, limited researcher access to online data and the few open, accurate and generalizable species classification algorithms with API access.

ecology↗

Biliverdin Reductase Catalytic Activity Is Essential for Malaria Resistance

Jaundice, a condition characterized by elevated levels of circulating bilirubin, is an adaptive response to malaria sustained through bilirubin production by biliverdin reductase A (BVRA). Beyond its enzymatic activity, BVRA acts as a protein kinase and as a transcription factor. To disentangle the contribution of BVRA catalytic activity over its non-canonical functions we generated BlvraG17A and BlvraE97A mice harboring G17A and E97A missense mutations in the BVRA NAD(P)H-binding domain and reductase motif, respectively. Both BlvraG17A and BlvraE97Amice presented a reduction in enzymatic activity and succumbed to malaria, otherwise non-lethal to wild-type (BlvraWT) mice. Quantification of circulating unconjugated bilirubin revealed a dose response effect whereby the mutant strains failed to reach a threshold of circulating bilirubin required to support its protective effect. These findings establish the antimalarial effect of the enzymatic activity of BVRA and define a concentration threshold of bilirubin required for malaria protection, informing therapeutic development and biomarker-guided malaria treatment strategies. Highlights- Establishment of catalytic deficient BVRA mouse mutants; - Anti-malarial effect of BVRA relies on its catalytic activity; - A minimal bilirubin threshold for parasite control; - A minimal bilirubin threshold for malaria resolution;

pathology↗

Monocyte control of organismal energy homeostasis

Multicellular organisms rely on inter-organ communication networks to maintain vital parameters within a dynamic physiological range. Macrophages are central to this homeostatic control system, sensing deviations of those parameters and responding accordingly to support tissue function and organismal homeostasis. Here we demonstrate that dysregulation of iron metabolism in parenchyma cells, imposed by the deletion of ferritin H chain, is sensed by monocyte-derived macrophages. In response, macrophages derived from circulating monocytes support tissue function, energy metabolism and thermoregulation, as demonstrated in bone marrow chimeric and parabiotic mice. This salutary effect is contingent on a transcriptional program, controlled in macrophages by the transcription factor A mitochondria. This transcriptional response acts in a non-cell autonomous manner to support the mitochondria of parenchyma cells, irrespectively of mitochondrial transfer. In conclusion, monocyte-derived macrophages cross-regulate Fe and energy metabolism to support tissue function and organismal homeostasis.

immunology↗

Jack of all trades and master of most: Carpobrotus taxa show no trade-off in reproductive strategies

O_LIThe ability to reproduce via multiple strategies is crucial for the invasion success of alien plant species. Here, we use Carpobrotus taxa (species and hybrids) to explore how trade-offs between and within these strategies may influence plant invasion dynamics. Native to South Africa, Carpobrotus plants are globally prominent in coastal ecosystems, reproducing by seed and clonally, and frequently hybridizing in both native and introduced regions. Three genetically distinct clusters were previously identified, with evidence of hybridization within and between these clusters in native and non-native ranges. C_LIO_LIWe collected fruit samples from populations representing the genetic clusters and their hybrids across native and non-native ranges (i.e., Europe, California, and New Zealand). These genetic clusters reflect the complex taxonomy of Carpobrotus, where species boundaries are unclear due to hybridization and morphological similarity. We then assessed seed set, seed mass, germination rates, and early growth under varying abiotic conditions alongside genetic estimates of clonality. C_LIO_LIGermination rates were influenced by temperature, moisture, and nutrient levels. Non-native populations demonstrated higher seed set, seed mass, and germination success compared to native populations, indicating a stronger investment in sexual reproduction. These populations also showed higher levels of clonality, shown by lower genotypic richness, suggesting that both reproductive strategies enhance invasive potential. C_LIO_LIHigh-clonality populations produced more seeds, demonstrating that the two reproductive strategies are not mutually exclusive. These results highlight the importance of multiple reproductive strategies for the establishment and spread of Carpobrotus taxa and provide insights into the mechanisms driving their global success. C_LI

plant biology↗

Tgfbr1 controls developmental plasticity between the hindlimb and external genitalia by remodeling their regulatory landscape

The hindlimb and external genitalia of present-day tetrapods are thought to derive from an ancestral common primordium that evolved to generate a wide diversity of structures adapted for efficient locomotion and mating in the ecological niche conquered by the species. We show that despite long evolutionary distance from the ancestral condition, the early primordium of the mouse external genitalia preserved the capacity to take hindlimb fates. In the absence of Tgfbr1, the pericloacal mesoderm generates an extra pair of hindlimbs at the expense of the external genitalia. It has been shown that the hindlimb and the genital primordia share many of their key regulatory factors. Tgfbr1 controls the response to those factors by modulating the accessibility status of regulatory elements that control the gene regulatory networks leading to the formation of genital or hindlimb structures. Our work uncovers a remarkable tissue plasticity with potential implications in the evolution of the hindlimb/genital area of tetrapods, and identifies a novel mechanism for Tgfbr1 activity that might also contribute to the control of other physiological or pathological processes.

developmental biology↗

Regulatory changes associated with the head to trunk developmental transition

Development of vertebrate embryos is characterized by early formation of the anterior tissues followed by the sequential extension of the axis at their posterior end to build the trunk and tail structures, first by the activity of the primitive streak and then of the tail bud. Embryological, molecular and genetic data demonstrate that head and trunk development are significantly different, indicating that the transition into the trunk formation stage involves changes in regulatory gene networks, that might include the acquisition of cell competence to respond to key regulatory factors. Herein, we explored the regulatory changes involved in this developmental transition by assessing the transcriptome and chromatin accessibility profiles from the posterior epiblast region of mouse embryos at embryonic day (E)7.5 and E8.5. We observed changes in various cell processes, including signaling pathways, ubiquitination, ion dynamics and metabolic processes involving lipids that could contribute to the functional switch in the progenitor region of the embryo. Our data also led to the identification of novel mechanisms controlling the differential Wnt functional requirements during head and trunk development. Moreover, we found substantial changes in chromatin accessibility mostly mapping to intergenic regions, indicating a significant switch in the regulatory elements controlling either head or trunk development. In addition, we tested the functional relevance of potential enhancers of Wnt5a and Nr2f2, identified in the accessibility assays, that reproduced the expression profiles of the target genes. Deletion of these regions by genome editing had limited effect on the expression of those genes, suggesting the existence of redundant enhancers that guarantee robust expression patterns. Overall, this study provides new insights on the regulatory mechanisms that change during the transition from head to trunk development. Author SummaryVertebrate main body axis is generated sequentially from head to tail. The developmental processes building head and trunk structures are significantly different, and the transition between these two stages requires substantial changes in functional gene regulatory networks. Herein, we explored such changes through genome wide analyses in developing mouse embryos. We observed significant differences in several signaling pathways and in the basic cell machinery, which may interact promoting a functional switch in the differentiating progenitor cells. We also found substantial changes in the accessibility of regulatory elements controlling either head or trunk formation, which conditioned the binding activity of key developmental transcription factors. Overall, our study gives relevant insights into the mechanisms regulating the head to trunk transition that, if disrupted, can lead to embryonic developmental arrest.

developmental biology↗

The dual character of the inhibitory functions of CD6

T-cell membrane scaffold proteins play important roles in T cell biology, functioning as multi-functional signaling hubs. CD6 assembles a large intracellular signalosome but, unlike typical membrane-attached scaffolds like LAT or PAG, it has a sizeable ectodomain that binds a well-characterized ligand, CD166. It is unclear whether CD6 has net inhibitory or costimulatory functions or how its ectodomain influences these activities. To explore these questions, we dissected the signaling functions of the extracellular and cytoplasmic regions of CD6. We found that CD6 was delivered to the immunological synapse and suppressed T cell responsiveness in vitro wholly dependently of its cytoplasmic domain, indicating that CD6 very potently imposes tonic inhibition, acting as a structural and signaling inhibitory hub. However, the cell-intrinsic suppression of autoimmunity by CD6 in vivo was also impacted by extracellular interactions, demonstrated by the increased susceptibility of mice to experimental autoimmune encephalomyelitis after removal of the ligand binding region of the ectodomain of CD6. Our work identifies CD6 as a new class of on/off switching scaffold-receptor that constrains immune responsiveness at two speeds. First, it sets signaling thresholds via tonic inhibition, functioning as a cytoplasmic membrane-bound scaffold and, second, by cycling between signaling-enabling and signalinginhibiting ectodomain isoforms it functions as an immune checkpoint.

immunology↗

CD5L constraints acute and systemic inflammation and can be a novel potent therapeutic agent against sepsis

The global burden of sepsis, with an estimated 49 million cases and 11 million deaths in 2017, often passes unnoticed to the general public even though it is the direct cause of nearly 20% of all deaths worldwide. This unawareness is perhaps due to misconceptions, or miscoding in the reporting of the ultimate causes of death, as in many diseases it is not the actual infectious agent that causes the biggest harm. Rather, it is the uncontrolled inflammation leading to septic shock that is the most menacing manifestation associated with many infections, and becomes deadly serious once it has passed the stage where anti-microbial drugs no longer have any effect to inactivate or destroy the pathogen. Here we show that the combined anti-bacterial and anti-inflammatory properties of the scavenger receptor cysteine-rich (SRCR) protein CD5L contribute to a remarkable therapeutic effect of the protein to fight sepsis, such that when exogenously administered in C57BL/6 mice with induced lethal-grade sepsis, it can be a very effective curative agent to treat this condition. The resistance conferred by CD5L to polybacterial-induced sepsis using the cecal ligation and puncture (CLP) model is consistent with the reported observations that CD5L physically binds and inactivates diverse species and strains of bacteria. Accordingly, our CD5L-knockout mice are significantly more susceptible to experimentally-induced mid-grade CLP than wild-type animals. We show that CD5L is centered on promoting neutrophil recruitment and activation, overall contributing to reducing the bacteria burden of the animals. However, the dramatic susceptibility of CD5L-deficient animals is not necessarily correlated only with pathogen load, as these mice are also extremely susceptible to sterile sepsis induced by nonlethal doses of LPS. Notwithstanding the observed capacity of CD5L to directly bind to a broad range of pathogens, typical of many PRRs, our evidence suggests that the anti-inflammatory properties of the protein are at least as important as its pathogen-binding potential, and can, and should, be explored to treat the deadly inflammation storm that is sepsis.

immunology↗

Assessing Myf5 and Lbx1 contribution to carapace development by reproducing their turtle-specific signatures in mouse embryos

BackgroundThe turtle carapace is an evolutionary novelty resulting from changes in the processes that build ribs and their associated muscles in most tetrapod species. Turtle embryos have several unique features that might play a role in this process, including the carapacial ridge, a Myf5 gene with shorter coding region that generates an alternative splice variant lacking exon 2, and unusual expression patterns of Lbx1 and HGF. ResultsWe generated Myf5 alleles reproducing the Myf5 turtle expression features. At mid gestation, mouse embryos expressing Myf5 lacking exon 2 reproduced some early properties of turtle somites, but still developed into viable and fertile mice. Extending Lbx1 expression into the hypaxial dermomyotomal lip of trunk somites to mimic the turtle Lbx1 expression pattern, produced fusions in the distal part of the ribs. ConclusionsTurtle-like Myf5 activity might generate a plastic state in developing trunk somites under which they can either enter carapace morphogenetic routes, possibly triggered by signals from the carapacial ridge, or still engage in the development of a standard tetrapod ribcage in the absence of those signals. In addition, trunk Lbx1 expression might play a later role in the formation of the lateral border of the carapace.

developmental biology↗

The X-linked splicing regulator MBNL3 has been co-opted to restrict placental growth in eutherians

The eutherian placenta is a major site for parental genetic conflict. Here, we identify the X-linked Mbnl3 gene as a novel player in this dispute. Mbnl3 belongs to an RNA binding protein family whose members regulate alternative splicing and other aspects of RNA metabolism in association with cellular differentiation. We find that, in eutherians, Mbnl3 has become specifically expressed in placenta and has undergone accelerated sequence evolution leading to changes in its RNA binding specificities. Although its molecular roles are partly redundant with those of Mbnl2, Mbnl3 has also acquired novel biological functions. In particular, whereas Mbnl2;Mbnl3 double knockout mice display severe placental maturation defects leading to strong histological and functional abnormalities, Mbnl3 knockout alone results in increased placental growth and favors placental and fetal resource allocation during limiting conditions.

evolutionary biology↗

A TgfβRI/Snai1-dependent developmental module at the core of vertebrate axial elongation

Formation of the vertebrate postcranial body axis follows two sequential but distinct phases. The first phase generates pre-sacral structures (the so-called primary body) through the activity of the primitive streak (PS) on axial progenitors within the epiblast. The embryo then switches to generate the secondary body (post-sacral structures), which depends on axial progenitors in the tail bud. Here we show that the mammalian tail bud is generated through an independent developmental module, concurrent but functionally different to that generating the primary body. This module is triggered by convergent Tgf{beta}RI and Snai1 activities that promote an incomplete epithelial to mesenchymal transition (EMT) on a subset of epiblast axial progenitors. This EMT is functionally different to that coordinated by the PS, as it does not lead to mesodermal differentiation but brings axial progenitors into a transitory state, keeping their progenitor activity to drive further axial body extension.

developmental biology↗

High Epha1 expression is a potential cell surface marker for embryonic neuro-mesodermal progenitors

The vertebrate body is built during embryonic development by the sequential addition of new tissue as the embryo grows at its caudal end. During this process, the neuro-mesodermal progenitors (NMPs) generate the postcranial neural tube and paraxial mesoderm. Recently, several approaches have been designed to determine their molecular fingerprint but a simple method to isolate NMPs from embryos without the need for transgenic markers is still missing. We isolated NMPs using a genetic strategy that exploits their self-renew properties, and searched their transcriptome for cell surface markers. We found a distinct Epha1 expression profile in progenitor-containing areas of the mouse embryo, consisting of two cell subpopulations with different Epha1 expression levels. We show that Sox2+/T+ cells are preferentially associated with the Epha1 compartment, indicating that NMPs might be contained within this cell pool. Transcriptional profiling showed enrichment of high Epha1-expressing cells in known NMP and early mesoderm markers. Also, tail bud cells with lower Epha1 levels contained a molecular signature suggesting the presence of notochord progenitors. Our results thus indicate that Epha1 could represent a valuable cell surface marker for different subsets of axial progenitors, most particularly for NMPs taking mesodermal fates.

developmental biology↗