Reproductive traits and population dynamics of benthic invertebrates indicate episodic recruitment patterns across an Arctic polar front

Climate-induced changes in the ocean and sea ice environment of the Arctic are beginning to generate major and rapid changes in Arctic ecosystems, but the effects of directional forcing on the persistence and distribution of species remain poorly understood. Here, we examine the reproductive traits and population dynamics of the bivalve Astarte crenata and sea star Ctenodiscus crispatus across a north–south transect that intersects the polar front in the Barents Sea. Both species present large oocytes indicative of short pelagic or direct development that do not differ in size–frequency between 74.5 and 81.3º latitude. However, despite gametogenic maturity, we found low frequencies of certain size classes within populations that may indicate periodic recruitment failure. We suggest that recruitment of A. crenata could occur periodically when conditions are favorable, while populations of C. crispatus are characterized by episodic recruitment failures. Pyloric caeca indices in C. crispatus show that food uptake is greatest at, and north of, the polar front, providing credence to the view that interannual variations in the quantity and quality of primary production and its flux to the seafloor, linked to the variable extent and thickness of sea ice, are likely to be strong determinants of physiological fitness. Our findings provide evidence that the distribution and long-term survival of species is not only a simple function of adaptive capacity to specific environmental changes, but will also be contingent on the frequency and occurrence of years where environmental conditions support reproduction and settlement

Invariant Gametogenic Response of Dominant Infaunal Bivalves From the Arctic Under Ambient and Near-Future Climate Change Conditions

Arctic marine ecosystems are undergoing a series of major rapid adjustments to the regional amplification of climate change, but there is a paucity of knowledge about how changing environmental conditions might affect reproductive cycles of seafloor organisms. Shifts in species reproductive ecology may influence their entire life-cycle, and, ultimately, determine the persistence and distribution of taxa. Here, we investigate whether the combined effects of warming and ocean acidification based on near-future climate change projections affects the reproductive processes in benthic bivalves (Astarte crenata and Bathyarca glacialis) from the Barents Sea. Both species present large oocytes indicative of lecithotrophic or direct larval development after ∼4 months exposure to ambient [&lt;2°C, ∼400 ppm (CO2)] and near-future [3–5°C, ∼550 ppm (CO2)] conditions, but we find no evidence that the combined effects of acidification and warming affect the size frequency distribution of oocytes. Whilst our observations are indicative of resilience of this reproductive stage to global changes, we also highlight that the successful progression of gametogenesis under standard laboratory conditions does not necessarily mean that successful development and recruitment will occur in the natural environment. This is because the metabolic costs of changing environmental conditions are likely to be offset by, as is common practice in laboratory experiments, feeding ad libitum. We discuss our findings in the context of changing food availability in the Arctic and conclude that, if we are to establish the vulnerability of species and ecosystems, there is a need for holistic approaches that incorporate multiple system responses to change.</p

The reproductive ecology of the Antarctic bivalve Aequiyoldia eightsii (Protobranchia: Sareptidae) follows neither Antarctic nor taxonomic patterns

The accepted paradigm for reproduction in Antarctic marine species is one where oogenesis takes 18 months to 2 years, and a bimodal egg-size distribution where two cohorts of eggs are present in female gonads throughout the year. These slow gametogenic traits are driven by low temperature and/or the restriction of resource availability because of extreme seasonality in the marine environment. Here we present data on the reproductive ecology of the common Antarctic bivalve Aequiyoldia eightsii (Jay, 1839) (Protobranchia: Sarepidae) from monthly samples collected between January 2013 and May 2014 at Hangar Cove, Rothera Point on the West Antarctic Peninsula. These data show that A. eightsii is unusual because it does not follow the typical pattern expected for reproduction in Antarctic marine invertebrates, and differs also from closely related nuculanid protobranch bivalves with respect to gametogenic duration and reproductive periodicity. Continuous oogenesis, evidenced by the year-round occurrence of previtellogenic, vitellogenic, and ripe oocytes in female gonads, is supplemented by a seasonal increase in reproductive intensity and spawning in Austral winter (April–May), evidenced by the loss of mature spermatozoa and ripe oocytes from males and females, respectively. The simultaneous occurrence of these contrasting traits in individuals is attributed to a flexible feeding strategy (suspension and deposit feeding) in response to seasonal changes in food supply characteristic of the Antarctic marine environment. Asynchrony between individual females is also notable. We hypothesise that the variability may represent a trade-off between somatic and reproductive growth, and previously reported internal interannual cycles in shell growth

Functional thermal limits are determined by rate of warming during simulated marine heatwaves

Marine heatwaves (MHWs) are increasing in both intensity and frequency against a backdrop of gradual warming associated with climate change. In the context of MHWs, animals are likely to experience sub-lethal, rather than lethal effects, defining long-term limits to survival and/or impacting individual and population fitness. This study investigated how functional sub-lethal limits track critical thresholds and how this relationship changes with warming rate. To this end we monitored basic functioning, specifically the ability to right, feed and assimilate energy, as well as oxygen consumption rate in the common Antarctic sea urchin, Sterechinus neumayeri. Water temperature in experimental systems was increased at rates of 1oC day-1, 0.5oC day-1 and 0.3oC day-1, in line with the characteristics of MHW events previously experienced at the site where the study urchins were collected on the Antarctica Peninsula. Functioning was assessed during the simulation of MHWs and sub-lethal limits determined when the rate of functional degradation changed as temperature increased. Results suggest that thermal sensitivity varies between the key biological functions measured, with the ability to right having the highest thermal threshold. Arguably, the most interesting result was that functions deteriorated at lower temperatures when warming was more rapid (1oC day-1), contrary to lethal critical thresholds, which were reached at lower temperatures when warming was slower (0.3oC day-1). MHWs and their impacts extend far beyond Antarctica and in this context, our analyses indicate that the onset rate of MHWs is critical in determining an organism’s ability to tolerate short-term elevated temperatures

The extremes of disturbance reduce functional redundancy: Functional trait assessment of the shallow Antarctic benthos

Climate-driven changes in disturbance are a major threat to ecosystem Functional diversity. The selective mechanisms underlying ecosystem response to disturbance are far from universal and remain the subject of scientific debate. Ice scouring of the shallow Antarctic benthos is one of the largest disturbance gradients in the natural environment and thus provides an opportunity to investigate how disturbance gradients influence functional structure of a biological assemblage. The Western Antarctic Peninsula, in particular, is a hotspot of climate-driven environmental change. Addressing how this system might respond to species loss is critical. Previous surveys across the shallowest 100 m of the seabed, detected unimodal changes in diversity and a shift in assemblage composition in response to disturbance gradients. This study investigated how functional traits and associated functional diversity change across the depth gradient. Our results revealed that selective mechanisms, such as disturbance filtering and inter-species competition, reduce functional redundancy at the extremes of the disturbance gradient. Our study highlights areas of potential vulnerability to future environmental change due to low functional redundancy. Threatening the important negative (mitigating) feedbacks on climate change, through blue carbon, currently provided by Antarctic continental shelf benthic assemblages

Infectiousness of patients with smear-negative pulmonary tuberculosis, assessed by Real-time Polymerase Chain Reaction, Xpert®MTB/RIF

Currently, pulmonary tuberculosis (TB) isolation recommendations are based on serial sputum smear microscopy. To assess infectiousness of smear-negative/GeneXpert-positive (Sm-/GXpert+) pulmonary TB, we evaluated 511 contacts of pulmonary TB patients attended at a teaching hospital in Spain (2010-2018). There were no statistically significant differences in rates of Mycobacterium tuberculosis infection (46.2% contacts of smear-positive and 34.6% contacts of Sm-/GXpert+ pulmonary TB patients, p=0.112). Sm-/GXpert+ pulmonary TB poses a substantial risk of transmission of M. tuberculosis infection. Our results add evidence to support including Real-time Polymerase Chain Reaction (Xpert®MTB/RIF) in the work-up diagnosis of suspected pulmonary TB cases to make decisions on air-borne isolation

GEP analysis validates high risk MDS and acute myeloid leukemia post MDS mice models and highlights novel dysregulated pathways

International audienceBACKGROUND:In spite of the recent discovery of genetic mutations in most myelodysplasic (MDS) patients, the pathophysiology of these disorders still remains poorly understood, and only few in vivo models are available to help unravel the disease.METHODS:We performed global specific gene expression profiling and functional pathway analysis in purified Sca1+ cells of two MDS transgenic mouse models that mimic human high-risk MDS (HR-MDS) and acute myeloid leukemia (AML) post MDS, with NRASD12 and BCL2 transgenes under the control of different promoters MRP8NRASD12/tethBCL-2 or MRP8[NRASD12/hBCL-2], respectively.RESULTS:Analysis of dysregulated genes that were unique to the diseased HR-MDS and AML post MDS mice and not their founder mice pointed first to pathways that had previously been reported in MDS patients, including DNA replication/damage/repair, cell cycle, apoptosis, immune responses, and canonical Wnt pathways, further validating these models at the gene expression level. Interestingly, pathways not previously reported in MDS were discovered. These included dysregulated genes of noncanonical Wnt pathways and energy and lipid metabolisms. These dysregulated genes were not only confirmed in a different independent set of BM and spleen Sca1+ cells from the MDS mice but also in MDS CD34+ BM patient samples.CONCLUSIONS:These two MDS models may thus provide useful preclinical models to target pathways previously identified in MDS patients and to unravel novel pathways highlighted by this study

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

Embryonic development is dictated by tight regulation of DNA replication, cell division and differentiation. Mutations in DNA repair and replication genes disrupt this equilibrium, giving rise to neurodevelopmental disease characterized by microcephaly, short stature and chromosomal breakage. Here, we identify biallelic variants in two components of the RAD18-SLF1/2-SMC5/6 genome stability pathway, SLF2 and SMC5, in 11 patients with microcephaly, short stature, cardiac abnormalities and anemia. Patient-derived cells exhibit a unique chromosomal instability phenotype consisting of segmented and dicentric chromosomes with mosaic variegated hyperploidy. To signify the importance of these segmented chromosomes, we have named this disorder Atelís (meaning - incomplete) Syndrome. Analysis of Atelís Syndrome cells reveals elevated levels of replication stress, partly due to a reduced ability to replicate through G-quadruplex DNA structures, and also loss of sister chromatid cohesion. Together, these data strengthen the functional link between SLF2 and the SMC5/6 complex, highlighting a distinct role for this pathway in maintaining genome stability

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

Embryonic development is dictated by tight regulation of DNA replication, cell division and differentiation. Mutations in DNA repair and replication genes disrupt this equilibrium, giving rise to neurodevelopmental disease characterized by microcephaly, short stature and chromosomal breakage. Here, we identify biallelic variants in two components of the RAD18-SLF1/2-SMC5/6 genome stability pathway, SLF2 and SMC5, in 11 patients with microcephaly, short stature, cardiac abnormalities and anemia. Patient-derived cells exhibit a unique chromosomal instability phenotype consisting of segmented and dicentric chromosomes with mosaic variegated hyperploidy. To signify the importance of these segmented chromosomes, we have named this disorder Atelís (meaning - incomplete) Syndrome. Analysis of Atelís Syndrome cells reveals elevated levels of replication stress, partly due to a reduced ability to replicate through G-quadruplex DNA structures, and also loss of sister chromatid cohesion. Together, these data strengthen the functional link between SLF2 and the SMC5/6 complex, highlighting a distinct role for this pathway in maintaining genome stability