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Abstract Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome, caused by genetic mutations that principally affect telomere biology. Approximately 35% of cases remain uncharacterised at the genetic level. To explore the genetic landscape, we conducted genetic studies on a large collection of clinically diagnosed cases of DC as well as cases exhibiting features resembling DC, referred to as ‘DC-like’ (DCL). This led us to identify several novel pathogenic variants within known genetic loci and in the novel X-linked gene, POLA1. In addition, we have also identified several novel variants in POT1 and ZCCHC8 in multiple cases from different families expanding the allelic series of DC and DCL phenotypes. Functional characterisation of novel POLA1 and POT1 variants, revealed pathogenic effects on protein-protein interactions with primase, CTC1-STN1-TEN1 (CST) and shelterin subunit complexes, that are critical for telomere maintenance. ZCCHC8 variants demonstrated ZCCHC8 deficiency and signs of pervasive transcription, triggering inflammation in patients’ blood. In conclusion, our studies expand the current genetic architecture and broaden our understanding of disease mechanisms underlying DC and DCL disorders.

Abstract The relationship between toxic marine microalgae species and climate change has become a high profile and well discussed topic in recent years, with research focusing on the possible future impacts of changing hydrological conditions on Harmful Algal Bloom (HAB) species around the world. However, there is very little literature concerning the epidemiology of these species on marine organisms and human health. Here, we examine the current state of toxic microalgae species around the UK, in two ways: first we describe the key toxic syndromes and gather together the disparate reported data on their epidemiology from UK records and monitoring procedures. Secondly, using NHS hospital admissions and GP records from Wales, we attempt to quantify the incidence of shellfish poisoning from an independent source. We show that within the UK, outbreaks of shellfish poisoning are rare but occurring on a yearly basis in different regions and affecting a diverse range of molluscan shellfish and other marine organisms. We also show that the abundance of a species does not necessarily correlate to the rate of toxic events. Based on routine hospital records, the numbers of shellfish poisonings in the UK are very low, but the identification of the toxin involved, or even a confirmation of a poisoning event is extremely difficult to diagnose. An effective shellfish monitoring system, which shuts down aquaculture sites when toxins exceed regularity limits, has clearly prevented serious impact to human health, and remains the only viable means of monitoring the potential threat to human health. However, the closure of these sites has an adverse economic impact, and the monitoring system does not include all toxic plankton. The possible geographic spreading of toxic microalgae species is therefore a concern, as warmer waters in the Atlantic could suit several species with southern biogeographical affinities enabling them to occupy the coastal regions of the UK, but which are not yet monitored or considered to be detrimental.

The increasing severity of drought has become a significant threat to global crop production. Early season drought in corn produces poor plant stand and grain yield. Thus, identifying corn hybrids for drought tolerance during the early season is important. Nineteen corn hybrids commonly grown in the Midsouthern US were assessed for drought tolerance using mini-hoop structures. Plants grown under non-stress conditions were exposed to three moisture levels at 100% (0.17 m3 m−3 soil; control), 66% (mild drought; DS1), and 33% (moderate drought; DS2) of the control from one to five leaf stages (V1 to V5). The physiological and morphological traits of corn hybrids were measured to assess variability in drought tolerance. When averaged across the hybrids, shoot parameters declined by 51% and 59% under DS1 and DS2 conditions, respectively, compared to the control. A decline in root traits was noticed under drought stress (38% under DS1 and 48% under DS2) compared to the control, revealing the shoot system sensitivity under drought conditions. In the principal component analysis, the first two principal components accounted for 66% of the phenotypic variation among the corn hybrids under drought stress. Total, shoot, leaf dry weights, root surface area, and root volume captured most of the phenotypic variation among the corn hybrids under drought. The results of the principal component analysis and drought stress response indices complimented the identification of ‘A6659’ and ‘D57VP51’ as drought-tolerant hybrids during the early seedling stage. These hybrids can be used as source material in developing drought-tolerant cultivars. Also, the tolerant hybrids will perform best under rainfed environments prone to early-season drought.

Corn seedling emergence is a critical factor affecting crop yields. Accurately predicting emergence is crucial for precise crop growth and development simulation in process-based crop models. While various experimental studies have investigated the relationship between corn seedling emergence and temperature, there remains a scarcity of studies focused on newer corn hybrids. In the present study, statistical models (linear and quadratic functional relationships) are developed based on the seedling emergence of ten current corn hybrids, considering soil and air temperatures as influencing factors. The data used for model development are obtained from controlled soil plant atmospheric research chamber experiments focused on corn seedling emergence at five different temperatures. Upon evaluating the developed models, the quadratic model relating the air temperature with time to emergence was found more accurate for all corn hybrids (coefficient of determination (R2): 0.97, root mean square error (RMSE): 0.42 day) followed by the quadratic model based on soil temperature (R2: 0.96, RMSE: 1.42 days), linear model based on air (R2: 0.94, RMSE: 0.53 day) and soil temperature (R2: 0.94, RMSE: 0.70 day). A growing degree day (GDD)-based model was also developed for the newer hybrids. When comparing the developed GDD-based model with the existing GDD models (based on old hybrids), it was observed that the GDD required for emergence was 16% higher than the GDD used in the current models. This showed that the existing GDD-based models need to be revisited when adopted for newer hybrids and adapted to corn crop simulation models. The developed seedling emergence model, integrated into a process-based corn crop simulation model, can benefit farmers and researchers in corn crop management. It can aid in optimizing planting schedules, supporting management decisions, and predicting corn crop growth, development, and it yields more accurately.

Drought-induced reduction in crop growth and productivity can be compensated by increasing atmospheric carbon dioxide (CO2), a significant contributor to climate change. Drought stress (DS) affects crops worldwide due to dwindling water resources and irregular rainfall patterns. The experiment was set up under a randomized complete block design within a three-by-two factorial arrangement. Six SPAR chambers represent three blocks (10 replications each), where each chamber has 30 pots in three rows. Each chamber was maintained with 30/22 (day/night) °C temperature, with either ambient (aCO2; 420 ppm) or elevated CO2 (eCO2; 720 ppm) concentrations. This experiment was designed to address the impact of DS on the physiological and biochemical attributes and study how the eCO2 helps alleviate the adversity of DS in basil. The study demonstrated that DS + eCO2 application highly accelerated the decrease in all forms of carotene and xanthophylls. eCO2 positively influenced and increased anthocyanin (Antho) and chlorophyll (LChl). eCO2 supplementation increased LChl content in basil under DS. Furthermore, DS significantly impeded the photosynthetic system in plants by decreasing CO2 availability and causing stomatal closure. Although eCO2 did not increase net photosynthesis (Pn) activity, it decreased stomatal conductance (gs) and leaf transpiration rate (E) under DS, showing that eCO2 can improve plant water use efficiency by lowering E and gs. Peroxidase and ascorbate activity were higher due to the eCO2 supply to acclimate the basil under the DS condition. This study suggests that the combination of eCO2 during DS positively impacts basil’s photosynthetic parameters and biochemical traits than aCO2.

In humid climates, waterlogging from excessive rainfalls can be a major limiting factor for soybean production, particularly during the reproductive stage. However, there is a limited understanding of how soybean growth and physiology respond to waterlogging during this critical stage. Here, we investigated the effects of waterlogging and subsequent reoxygenation on the growth, physiology, yields, and leaf hyperspectral reflectance traits of the soybean cultivar ‘Asgrow AG5332’. The crop was grown to stage R1 (initial flowering) in outdoor pot culture conditions, and then waterlogged for 16 days. The flooded pots were drained and continuously monitored for recovery for an additional 16 days. The results showed that soil oxygen levels declined rapidly to zero in about 5 days after waterlogging, and slowly recovered in about 5–16 days. However, it did not reach the same level as the control plants, which maintained an oxygen concentration of 18%. Increasing waterlogging duration negatively affected leaf chlorophyll index, water potential, and stomatal conductance, with a consequent decline in the photosynthetic rate. Further, decreased photosynthetic rate, leaf area, and mineral nutrients resulted in lower biomass and seed yield. Pod dry weight and leaf number were the most and least sensitive parameters, respectively, decreasing by 81% and 15% after 16 days of waterlogging. Waterlogged plants also had higher reflectance in the PAR, blue, green, and red regions, and lower reflectance in the near-infrared, tissue, and water band regions, indicating changes in chemistry and pigment content. The current study reveals that the soybean crop is susceptible to waterlogging during the reproductive stage, due to poor recovery of soil oxygen levels and physiological parameters. Understanding and integrating the growth, physiology, and hyperspectral reflectance data from this study could be used to develop improved cultivars to ensure the stability of soybean production in waterlogging-prone areas.

Familial myeloid malignancies have recently been classified as separate disease entities. Here, using whole-exome sequencing of affected pedigrees - the authors highlight genetic variants associated with these conditions.

Seed germination is the first developmental phase in a plant's life cycle that is followed by emergence from the soil, successful seedling and establishment, and fruitful yield. Seed germination is influenced by multiple environmental factors such as temperature, moisture, and aeration. An in vitro experiment was conducted to quantify the effects of temperatures ranging from 10[degrees]C to 42.5[degrees]C on germination properties of corn, cotton, and soybean seeds. Cumulative seed germination was recorded over time, was fitted with a three-parameter sigmoidal function to calculate maximum seed germination and seed germination rate. Maximum seed germination was significantly influenced by the interaction of temperature and species. The seed germination rate was further analyzed as a function of temperature by fitting bilinear and quadratic functions to the data. Cardinal temperatures (minimum, optimum, and maximum) were estimated from that regression analysis. Corn displayed the highest optimal temperature of 34.6[degrees]C. Cotton showed higher minimum and maximum cardinal temperatures than both corn and soybean. The cardinal temperatures and functional relationships between seed germination rate and temperature determined in this experiment will be useful to update crop simulation models and assess the best planting dates for rapid, successful germination based on environmental conditions. Keywords: Cardinal temperatures, corn, cotton, soybean, maximum seed germination, optimum temperature, seed germination models, seed germination rate Abbreviations: MSG, maximum seed germination; SGR, seed germination rate, INTRODUCTION In Mississippi, soybean [Glycine max (L.) Merr.], cotton (Gossypium hirsutum L.), and corn (Zea mays L.) are three of the most widely grown agronomically important crop species. In 2018, [...]

Due to climate change, the attainment of global food security is facing serious challenges in meeting the growing food demand. Abiotic stresses are the foremost limiting factors for agricultural productivity. However, not much information is available on the effect of multiple abiotic stresses on the morphological and biochemical aspects of kale and mustard. Therefore, an experiment was designed to study the effects of UV-B radiation, CO2 concentration, and high temperature on the growth, yield, and biochemistry of two Brassica species, namely B. oleracea L. var. acephala Winterbor F1 (hybrid kale) and B. juncea var. Green wave O.G. (mustard greens), which were grown under optimal nutrients and soil moisture conditions in soil–plant–atmosphere–research (SPAR) units. Two levels of UV-B radiation (0 and 10 kJ m−2 d−1), two concentrations of CO2 (420 and 720 ppm), and two different temperature treatments (25/17 °C and 35/27 °C) were imposed 12 days after sowing (DAS). Several morphological and biochemical parameters were measured at harvest (40 DAS) in both species. All the traits declined considerably under individual and multi-stress conditions in both species except under elevated CO2 levels, which had a positive impact. Marketable fresh weight decreased by 64% and 58% in kale and mustard plants, respectively, growing under UV-B treatment. A slight increase in the chlorophyll content was observed in both species under the UV-B treatment alone and in combination with high temperature and elevated CO2. Understanding the impacts of high temperature, CO2, and UV-B radiation treatments on leafy vegetables, such as kale and mustard, can help to improve existing varieties to enhance resilience towards environmental stresses while simultaneously improving yield, morphology, and biochemistry in plants.

Abstract Plants, being sessile, are subjected to multiple environmental stresses of varying intensity throughout their life cycle. Among the stresses, low fertility, drought, salinity, and nonoptimal temperatures limit crop productivity worldwide. Functional relationships between leaf N and crop growth are prerequisites to developing management tools that optimize productivity in the field. An outdoor pot‐culture experiment was conducted to determine the relationship between leaf N and sesame (Sesamum indicum L.) growth and development. Plants were grown in pots filled with fine sand and irrigated with full‐strength Hoagland's nutrient solution until 10 d after sowing (DAS). Five N treatments were then imposed: one treatment of full‐strength Hoagland's nutrient solution (control, 100% N), and four reformulations of Hoagland's nutrient solution containing reduced N at 60, 20, 10, and 0% of the control. Treatments were maintained until plants were harvested at 31 DAS. Growth, including several root traits, photosynthesis, and leaf N were measured at the end of the experiment. Maximum values were achieved at 5.3% leaf N in the leaves except for transpiration rate, stomatal conductance, and root/shoot ratio. Even though all growth rates declined with lower leaf N, the leaf area expansion among shoot and root volume among the root growth traits were most sensitive to leaf N. Among the root developmental traits, number of root tips was more sensitive to leaf N than other parameters. Among the plant dry components, leaf dry weight had the most considerable decrease. The root/shoot ratio increased under N deficiency. These N stress response indices and critical leaf N levels for various growth processes will help model and manage sesame crops in the field.

Abstract Drought is a major environmental stress factor of plants influencing all growth stages. Drought occurring during germination affects both germination percentage and rate. An experiment was conducted to evaluate in vitro seed germination responses of nine corn (Zea mays L.) hybrids to declining osmotic potentials using polyethylene glycol. Time series data for seed germination were generated at different osmotic potentials from 0 to −1.2 MPa at −0.3‐MPa intervals at 25 °C. Maximum seed germination (MSG) and seed germination rate (SGR) were estimated by fitting the data to a three‐parameter sigmoid function. The minimum osmotic potentials at which MSG and SGR rate reached zero (MSGbase and SGRbase) were derived by first fitting linear and quadratic regression models as a function of osmotic potential and then calculating intercepts. Maximum seed germination and SGR decreased as osmotic potential decreased, and differences were identified among hybrids for MSG, SGR, MSGbase, and SGRbase. An osmotic stress response index was developed by summing individual response indices of each parameter for each hybrid and was used to classify the corn hybrids into tolerance groups. AgriGold A6659 and Terral REV 25BHR26 were identified as the most‐ and least‐tolerant corn hybrids during germination, with AgriGold A6659 performing 29% better than REV 25BHR26. Previous studies have used similar methods using polyethylene glycol to create osmotic stress but have not used the parameters used in this study. These parameters establish a new potential screening tool to identify osmotic stress tolerance in corn germplasm.

Potential global climate change-related impacts on crop production have emerged as a major research priority and societal concern during the past decade. Future changes, natural and human-induced, projected in the climate have implications for regional and global crop production. The simultaneous occurrence of several abiotic stresses instead of stress conditions is most detrimental to crops, and this has been long known by farmers and breeders. The green leafy vegetables of the Brassicaceae family have especially gained attention due to their many health benefits. However, little information is available about abiotic stress’s effects on Brassica vegetables’ growth and development. An experiment was conducted on two Brassica species: B. oleracea L. var. acephala WINTERBOR F1 (hybrid kale) and B. juncea var. GREEN WAVE OG (mustard greens). Seven treatments were imposed on the two brassica species in soil–plant–atmosphere–research (SPAR) units under optimum moisture and nutrient conditions, including a control treatment (optimal temperature and UV-B conditions at ambient CO2 levels), and six treatments where stresses were elevated: CO2, UV-B, temperature (T), CO2+UV-B, CO2+T, and CO2+UV-B+T. Above- and below-ground growth parameters were assessed at 26 d after sowing. Several shoot and root morphological and developmental traits were evaluated under all the treatments. The measured growth and development traits declined significantly under individual stresses and under the interaction of these stresses in both the species, except under elevated CO2 treatment. All the traits showed maximum reductions under high IV-B levels in both species. Leaf area showed 78% and 72% reductions, and stem dry weight decreased by 73% and 81% in kale and mustard, respectively, under high UV-B levels. The increased CO2 concentrations alleviated some deleterious impacts of high temperature and UV-B stresses. The results of our current study will improve our understanding of the adverse effects of environmental stresses on the early-season growth and development of two Brassica species.

Temperature is a critical environmental factor regulating plant growth and yield. Corn is a major agronomic crop produced globally over a vast geographic region, and highly variable climatic conditions occur spatially and temporally throughout these regions. Current literature lacks a comprehensive study comparing the effects of temperature on above versus below-ground growth and development and biomass partitioning of corn measured over time. An experiment was conducted to quantify the impact of temperature on corn’s early vegetative growth and development. Cardinal temperatures (Tmin, Topt, and Tmax) were estimated for different aspects of above- and below-ground growth processes. Plants were subjected to five differing day/night temperature treatments of 20/12, 25/17, 30/22, 35/27, and 40/32 °C using sun-lit controlled environment growth chambers for four weeks post-emergence. Corn plant height, leaves, leaf area, root length, surface area, volume, numbers of tips and forks, and plant component part dry weights were measured weekly. Cardinal temperatures were estimated, and the relationships between parameters and temperature within these cardinal limits were estimated using a modified beta function model. Cardinal temperature limits for whole plant dry weight production were 13.5 °C (Tmin), 30.5 °C (Topt), and 38 °C (Tmax). Biomass resources were prioritized to the root system at low temperatures and leaves at high temperatures. Root growth displayed the lowest optimum temperature compared to root development, shoot growth, and shoot development. The estimated cardinal temperatures and functional algorithms produced in this study, which include both above and below-ground aspects of plant growth, could be helpful to update crop models and could be beneficial to estimate corn growth under varying temperature conditions. These results could also be applicable when considering management decisions for maximizing field production and implementing emerging precision agriculture technology.

Temporal and spatial variations in ozone levels and temporal changes in solar radiation greatly influence ultraviolet radiation incidence to crops throughout their growth, yet the interactive effects of CO2 and UV-B radiation on Basil production under sunlight environmental conditions has not been studied. Basil ‘Genovese’ plants grown under sunlit plant growth chambers were subjected to a combination of supplemental UV-B (0 and 10 kJ m−2d−1) and ambient (420 ppm) and elevated (720 ppm) CO2 treatments for 38 days after 14 days of germination. UV-B radiation treatments caused a decrease in basil stem branching, fresh mass, and stem dry mass under both CO2 treatments when harvested after 17 and 38 days of treatment. There was also an increase in basil leaf surface wax under UV-B (10 kJ m−2d−1) treatment compared to controls (0 kJ m−2d−1). Elevated CO2 treatments caused a decrease in morphological features, including specific leaf area and fresh mass. Interactive effects between UV-B and CO2 treatments existed for some morphological features, including plant height, root surface area, and average root diameter. Understanding the impacts that CO2 and UV-B radiation treatments have on basilcan improve existing varieties for increased tolerance while simultaneously improving yield, plant morphology, and physiology.

Short- and long-term waterlogging conditions impact crop growth and development, preventing crops from reaching their true genetic potential. Two experiments were conducted using a pot-culture facility to better understand soil waterlogging impacts on corn growth and development. Two corn hybrids were grown in 2017 and 2018 under ambient sunlight and temperature conditions. Waterlogging durations of 0, 2, 4, 6, 8, 10, 12, and 14 days were imposed at the V2 growth stage. Morphological (growth and development) and pigment estimation data were collected 15 days after treatments were imposed, 23 days after sowing. As waterlogging was imposed, soil oxygen rapidly decreased until reaching zero in about 8–10 days; upon the termination of the treatments, the oxygen levels recovered to the level of the 0 days treatment within 2 days. Whole-plant dry weight declined as the waterlogging duration increased, and after 2 days of waterlogging, a 44% and 27% decline was observed in experiments 1 and 2, respectively. Leaf area and root volume showed an exponential decay similar to the leaf and root dry weight. Leaf number and plant height were the least sensitive measured parameters and decreased linearly in both experiments. Root forks were the most sensitive parameter after 14 days of waterlogging in both experiments, declining by 83% and 80% in experiments 1 and 2, respectively. The data from this study improve our understanding of how corn plants react to increasing durations of waterlogging. In addition, the functional relationships generated from this study could enhance current corn simulation models for field applications.

Marine plankton are the basis of the oceanic food chain. Here, Chivers and colleagues use ocean-basin wide plankton population data over six decades to show huge differences in the response of different plankton groups to climate change with major implications for the marine ecosystem and fisheries.

Recent evidence suggests that the effects of temperature significantly affect the growth and development of basil plants with detrimental impacts on yield. The current research investigated the interactive effects of varying temperature and CO2 levels on the shoot and root morphology and growth of early and late-season basil plants. Basil plants were subjected to control (30/22 °C), low (20/12 °C), and high (38/30 °C) temperature under ambient (420 μL L−1) and elevated (720 μL L−1) CO2 concentrations. Decreasing the temperature to 20/12 °C caused more adverse effects on the morphological traits of the early-season basil. Relative to the control treatments, low- and high-temperature stresses decreased 71 and 14% in marketable fresh mass, respectively. Basil exhibited an increase in plant height, node and branch numbers, specific leaf area, anthocyanin and nitrogen balance index, root tips, and root crossings when subjected to high-temperature stress. Furthermore, elevated CO2 affected many morphological features compared to ambient CO2 concentrations. The findings of this study suggest that varying the growth temperature of basil plants would more significantly impact the shoot and root morphologies and growth rates of basil than increasing the CO2 concentrations, which ameliorated the adverse impacts of temperature stress.

Early season sowing is one of the methods for avoiding yield loss for basil due to high temperatures. However, basil could be exposed to sub-optimal temperatures by planting it earlier in the season. Thus, an experiment was conducted that examines how temperature changes and carbon dioxide (CO2) levels affect basil growth, development, and phytonutrient concentrations in a controlled environment. The experiment simulated temperature stress, low (20/12 °C), and high (38/30 °C), under ambient (420 ppm) and elevated (720 ppm) CO2 concentrations. Low-temperature stress prompted the rapid closure of stomata resulting in a 21% decline in net photosynthesis. Chlorophylls and carotenoids decreased when elevated CO2 interacted with low-temperature stress. Basil exhibited an increase in stomatal conductance, intercellular CO2 concentration, apparent quantum yield, maximum photosystem II efficiency, and maximum net photosynthesis rate when subjected to high-temperature stress. Under elevated CO2, increasing the growth temperature from 30/22 °C to 38/30 °C markedly increased the antioxidants content of basil. Taken together, the evidence from this research recommends that varying the growth temperature of basil plants can significantly affect the growth and development rates compared to increasing the CO2 concentrations, which mitigates the adverse effects of temperature stress.