RESUMO
The French-Canadian population of Saguenay-Lac-Saint-Jean is known for its homogenous genetic background. The hereditary causes of hearing loss were previously unexplored in this population. Individuals with hearing loss were referred from the otorhinolaryngology, pediatrics and family physicians' clinics to the medical genetics service at the Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean between June 2015 and March 2021. A regional clinical evaluation strategy was developed. Samples from 63 individuals belonging to 41 families were sent independently to different molecular clinical laboratories and index cases were analyzed through comprehensive multigene panels, with a diagnostic rate of 54%. Sixteen hearing loss causal variants were identified in 12 genes, with eight of these variants not been previously reported in the literature. Recurrent variants were present in four genes, suggesting a possible founder effect, while GJB2 gene variants were scarce. A comprehensive multigene panel approach as part of the proposed clinical evaluation strategy offers a high diagnostic yield for this population.
Assuntos
Surdez , Perda Auditiva , Canadá/epidemiologia , Criança , Efeito Fundador , Perda Auditiva/genética , Humanos , Quebeque/epidemiologiaRESUMO
Tritium concentrations in oceans were compiled from the literature, online databases and original measurements in order to determine the global distribution of tritium concentrations according to latitude and depth in all oceans. The total inventory of tritium decay corrected in 2016 has been estimated using evaluation of the natural and artificial contributions in 23 spatial subdivisions of the total ocean. It is determined equal to 26.8⯱â¯14â¯kg including 3.8â¯kg of cosmogenic tritium. That is in agreement with the total atmospheric input of tritium from nuclear bomb tests and the natural inventory at steady-state estimated from natural production rates in the literature (27.8-29.3â¯kg in the Earth). We confirm the global increase in tritium according to latitude observed in the Northern hemisphere since 1967 with a maximum in the Arctic Ocean. The minimum tritium concentrations observed in the Southern Ocean were close to steady-state with known natural tritium deposition. We focused on the temporal evolution of surface (0 to 500â¯m) tritium concentrations in a selected area of the North Atlantic Ocean (30°N-60°N) where we found the 2016 concentration to be 0.60⯱â¯0.10 TU (1σ). Results showed that in that area, between 1988 and 2013, tritium concentrations: i) decreased faster than the sole radioactive decay, due to a mixing with lower and lateral less concentrated waters, and ii) decreased towards an apparent steady state concentration. The half-time mixing rate of surface waters and the steady state concentration were respectively calculated to be 23⯱â¯5â¯years (1σ) and 0.38⯱â¯0.07 TU (1σ). This apparent steady-state concentration in the North Atlantic Ocean implies a mean tritium deposition of 1870⯱â¯345â¯Bq·m-2 (1σ), five folds higher than the known inputs (natural, nuclear tests fallout and industrial releases, ~367â¯Bq·m-2) in this area.
RESUMO
Phytoplankton blooms are usually dominated by chain-forming diatom species that can alter food pathways from primary producers to predators by reducing the interactions between intermediate trophic levels. The food-web modifications are determined by the length of the chains; however, the estimation is biased because traditional sampling strategies damage the chains and, therefore, change the phytoplankton size structure. Sedimentological studies around oceanic fronts have shown high concentrations of giant diatom mats (>1 cm in length), suggesting that the size of diatom chains is underestimated in the pelagic realm. Here, we investigate the variability in size and abundance of phytoplankton chains at the Ushant tidal front (NW France) using the Video Fluorescence Analyzer (VFA), a novel and non-invasive system. CTD and Scanfish profiling characterized a strong temperature and chlorophyll front, separating mixed coastal waters from the oceanic-stratified domain. In order to elucidate spring-neap variations in the front, vertical microstructure profiler was used to estimate the turbulence and vertical nitrate flux. Key findings were: (1) the VFA system recorded large diatom chains up to 10.7 mm in length; (2) chains were mainly distributed in the frontal region, with maximum values above the pycnocline in coincidence with the maximum chlorophyll; (3) the diapycnal fluxes of nitrate enabled the maintenance of the bloom in the frontal area throughout the spring-neap tidal cycle; (4) from spring to neap tide the chains length was significantly reduced; (5) during neap tide, the less intense vertical diffusion of nutrients, as well as the lower turbulence around the chains, intensified nutrient-depleted conditions and, thus, very large chains became disadvantageous. To explain this pattern, we suggest that size plasticity is an important ecological trait driving phytoplankton species competition. Although this plasticity behavior is well known from experiments in the laboratory, it has never been reported from observations in the field.
Assuntos
Diatomáceas/fisiologia , Ecossistema , Cadeia Alimentar , Fitoplâncton/fisiologia , Baías , Biomassa , Clorofila/metabolismo , Diatomáceas/metabolismo , Fluorescência , França , Geografia , Nitratos/metabolismo , Fitoplâncton/metabolismo , Densidade Demográfica , Estações do Ano , Espanha , Temperatura , Gravação de Videoteipe/métodos , Movimentos da ÁguaRESUMO
Kelp ecosystems form widespread underwater forests playing a major role in structuring the biodiversity at a regional scale. Some seaweeds such as Laminaria digitata are also economically important, being exploited for their alginate and iodine content. Although some studies have shown that kelp ecosystems are regressing and that multiple causes are likely to be at the origin of the disappearance of certain populations, the extent to which global climate change may play a role remains speculative. Here we show that many populations of L. digitata along European coasts are on the verge of local extinction due to a climate-caused increase in sea temperature. By modeling the spatial distribution of the seaweed, we evaluate the possible implications of global climate change for the geographical patterns of the species using temperature data from the Coupled Model Intercomparison Project phase 5 (CMIP5). Projections of the future range of L. digitata throughout the 21st century show large shifts in the suitable habitat of the kelp and a northward retreat of the southern limit of its current geographic distribution from France to Danish coasts and the southern regions of the United Kingdom. However, these projections depend on the intensity of warming. A medium to high warming is expected to lead to the extirpation of the species as early as the first half of the 21st century and there is high confidence that regional extinction will spread northwards by the end of this century. These changes are likely to cause the decline of species whose life cycle is closely dependent upon L. digitata and lead to the establishment of new ecosystems with lower ecological and economic values.
Assuntos
Clima , Kelp , Biodiversidade , Europa (Continente) , Modelos Estatísticos , Dinâmica Populacional , Probabilidade , Análise Espaço-TemporalRESUMO
As marine sessile organisms, seaweeds must respond efficiently to biotic and abiotic challenges in their natural environment to reduce the fitness consequences of wounds and oxidative stress. This study explores the early steps of the defense responses of a large marine brown alga (the tangle kelp Laminaria digitata) and investigates its ability to transmit a warning message to neighboring conspecifics. We compared the early responses to elicitation with oligoguluronates in laboratory-grown and harvested wild individuals of L. digitata. We followed the release of H2O2 and the concomitant production of volatile organic compounds. We also monitored the kinetics of expression of defense-related genes following the oxidative burst. Laboratory-grown algae were transplanted in kelp habitats to further evaluate their responses to elicitation after a transient immersion in natural seawater. In addition, a novel conditioning procedure was established to mimic field conditions in the laboratory. Our experiments showed that L. digitata integrates waterborne cues present in the kelp bed and/or released from elicited neighboring plants. Indeed, the exposure to elicited conspecifics changes the patterns of oxidative burst and volatile emissions and potentiates this kelp for faster induction of genes specifically regulated in response to oligoguluronates. Thus, waterborne signals shape the elicitor-induced responses of kelps through a yet unknown mechanism reminiscent of priming in land plants.
Assuntos
Regulação da Expressão Gênica/efeitos dos fármacos , Ácidos Hexurônicos/farmacologia , Laminaria/genética , Laminaria/metabolismo , Transdução de Sinais/efeitos dos fármacos , Água/metabolismo , Regulação para Baixo/efeitos dos fármacos , Regulação para Baixo/genética , Laminaria/crescimento & desenvolvimento , Oxirredução/efeitos dos fármacos , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Explosão Respiratória/efeitos dos fármacos , Explosão Respiratória/genética , Transdução de Sinais/genética , Fatores de Tempo , Compostos Orgânicos Voláteis/metabolismoRESUMO
The marine dinoflagellates commonly responsible for toxic red tides are parasitized by other dinoflagellate species. Using culture-independent environmental ribosomal RNA sequences and fluorescence markers, we identified host-specific infections among several species. Each parasitoid produces 60 to 400 offspring, leading to extraordinarily rapid control of the host's population. During 3 consecutive years of observation in a natural estuary, all dinoflagellates observed were chronically infected, and a given host species was infected by a single genetically distinct parasite year after year. Our observations in natural ecosystems suggest that although bloom-forming dinoflagellates may escape control by grazing organisms, they eventually succumb to parasite attack.
Assuntos
Dinoflagellida/parasitologia , Animais , Oceano Atlântico , Biodiversidade , Dinoflagellida/fisiologia , Ecossistema , Toxinas Marinhas , Dados de Sequência Molecular , Controle Biológico de VetoresRESUMO
The related red seaweeds Gracilaria sp. from the eastern Mediterranean and Gracilaria chilensis from Chile were similar in their enzymatic inventory for halogenation. In both species, halogenation was dependent upon H(2)O(2) and thus driven by haloperoxidases. These could be inhibited with phosphate and reversibly inhibited with azide and were therefore apparently dependent upon vanadate. Both species generated in the first line bromoform and other brominated halocarbons. Gel electrophoresis under non-denaturating conditions demonstrated that both species expressed halogenating peroxidases. Elicitation of Gracilaria sp. with agar oligosaccharides resulted in marked increases in bromination, iodination, and chlorination. Production rates of volatile halocarbons and phenol red bromination both increased by a factor of eight, presumably due to increased availability for haloperoxidases of H(2)O(2) during the oxidative burst response. Elicitation of Gracilaria sp. also triggered a release of bromide ions through DIDS-sensitive anion channels, which allowed for some bromination in bromide-free medium. However, this effect was relatively limited. By contrast, agar oligosaccharide oxidation in G. chilensis did not increase halogenation. Obviously, agar oligosaccharide oxidation does not provide sufficient amounts of hypohalous acids for such increases, because it does not deliver H(2)O(2) at the active site of vanadium-dependent haloperoxidases. These results correlate with earlier findings that the agar oligosaccharide-elicited oxidative burst controls microorganisms while agar oligosaccharide oxidation does not.
Assuntos
Adaptação Psicológica , Gracilaria/enzimologia , Halogenação/fisiologia , Oligossacarídeos/fisiologia , Peroxidases/metabolismo , Ágar/metabolismoRESUMO
Brown algal kelp species are the most efficient iodine accumulators among all living systems, with an average content of 1.0% of dry weight in Laminaria digitata, representing a ca. 30,000-fold accumulation of this element from seawater. Like other marine macroalgae, kelps are known to emit volatile short-lived organo-iodines, and molecular iodine which are believed to be a main vector of the iodine biogeochemical cycle as well as having a significant impact on atmospheric chemistry. Therefore, radioactive iodine can potentially accumulate in seaweeds and can participate in the biogeochemical cycling of iodine, thereby impacting human health. From a radioecological viewpoint, iodine-129 (129I, half-life of 1.6 x 10(7) years) is one of the most persistent radionuclide released from nuclear facilities into the environment. In this context, the speciation of iodine by seaweeds is of special importance and there is a need to further understand the mechanisms of iodine uptake and emission by kelps. Recent results on the physiological role and biochemistry of the vanadium haloperoxidases of brown algae emphasize the importance of these enzymes in the control of these processes.