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BACKGROUND: Gari (especially in Nigeria) is an important West African food product made from cassava. It is an affordable, precooked, dry, easy to prepare and store food product. Eba is a stiff dough produced by reconstituting gari in hot water. Gari and eba quality is an important driver of varietal acceptance by farmers, processors, and consumers. RESULTS: This study characterized the genetic variability, heritability, and correlations among quality‐related traits of fresh roots, gari, and eba. Thirty‐three diverse genotypes, including landraces and released and advanced breeding genotypes, were used in this study. In total, 40 traits categorized into fresh root quality, colour, functional, and texture properties trait groups were assessed. We observed broad phenotypic variability among the genotypes used in this study. Dry matter content had a positive (P < 0.05) correlation with gari%, bulk density and a negative correlation with eba hardness and gumminess. Broad‐sense heritability across all environments varied considerably among the different trait groups: 62% to 79% for fresh root quality, 0% to 96% for colour, 0% to 79% for functional and 0% to 57% for texture properties. CONCLUSIONS: The stable broad‐sense heritability found for gari%, gari and eba colour, bulk density, swelling index, and hardness measured using instrumental texture profile analysis coupled with sufficient variability in the population indicate good potential for genetic improvement of these traits through recurrent selection. Also, it is possible to genetically improve gari%, bulk density, and swelling power by simultaneously improving the dry matter content of fresh roots. © 2023 The Authors. Journal of The Science of Food and Agriculture published by John Wiley & Sons Ltd on behalf of Society of Chemical Industry. [ABSTRACT FROM AUTHOR]

The wood anatomy of Gymnanthes klotzschiana was studied, to assess whether there are variations in the secondary xylem under different geopedological conditions. The species is dominant in subtropical alluvial forests and can be established in different ecological conditions, especially regarding soil water regime. Wood samples were collected in the plain of the Iguaçu River, in Paraná, Brazil, encompassing three geopedological conditions: gleysol, fluvisol and psamment, characterized by varying degrees of water saturation, ranging from very poorly drained to heavily drained. Considerable intraspecific variations were found in the xylem in response to geopedological conditions. Most of the variation occurs in attributes related to the biomechanical and hydraulic functions (e.g. fibers and vessels), with cells smaller in gleysol, larger in fluvisol and intermediate in psamment. For some variables, the xylem has similar responses in conditions of water deficit and permanent water saturation, indicating a probable influence of physiological drought. The phenotypic plasticity of the species explains its high adaptability to the selective and variable conditions of riparian environments. The study contributes to understanding the species' ecological responses, highlighting its relevance as a keystone species in the dynamic and fragile ecosystems of the floodplains, fundamental for the maintenance of many ecosystem services. [ABSTRACT FROM AUTHOR]

Summary: Alfalfa (Medicago sativa L.) is one of the most important forage legumes in the world, including autotetraploid (M. sativa ssp. sativa) and diploid alfalfa (M. sativa ssp. caerulea, progenitor of autotetraploid alfalfa). Here, we reported a high‐quality genome of ZW0012 (diploid alfalfa, 769 Mb, contig N50 = 5.5 Mb), which was grouped into the Northern group in population structure analysis, suggesting that our genome assembly filled a major gap among the members of M. sativa complex. During polyploidization, large phenotypic differences occurred between diploids and tetraploids, and the genetic information underlying its massive phenotypic variations remains largely unexplored. Extensive structural variations (SVs) were identified between ZW0012 and XinJiangDaYe (an autotetraploid alfalfa with released genome). We identified 71 ZW0012‐specific PAV genes and 1296 XinJiangDaYe‐specific PAV genes, mainly involved in defence response, cell growth, and photosynthesis. We have verified the positive roles of MsNCR1 (a XinJiangDaYe‐specific PAV gene) in nodulation using an Agrobacterium rhizobia‐mediated transgenic method. We also demonstrated that MsSKIP23_1 and MsFBL23_1 (two XinJiangDaYe‐specific PAV genes) regulated leaf size by transient overexpression and virus‐induced gene silencing analysis. Our study provides a high‐quality reference genome of an important diploid alfalfa germplasm and a valuable resource of variation landscape between diploid and autotetraploid, which will facilitate the functional gene discovery and molecular‐based breeding for the cultivars in the future. [ABSTRACT FROM AUTHOR]

In some populations of the Two-Lined Salamander (Eurycea bislineata) species complex, males exhibit two alternative reproductive tactics: "searching" and "guarding." Searching males have secondary sexual characters—including a large, pheromone-producing mental gland—used in terrestrial courtship, whereas guarding males have hypertrophied jaw musculature used in mate-guarding behavior near aquatic nesting sites. Although this polymorphism occurs in at least four evolutionarily distinct lineages, previous histological studies have only focused on soft-tissue differences in one of these species and no studies have evaluated osteological differences between alternative reproductive tactics. Herein, we present new histological and osteological data from three evolutionarily distinct lineages within the E. bislineata species complex. We confirmed that traditional mental glands are restricted to searching males and that caudal courtship glands are present in both male phenotypes, but not in females. We also found variation in other skin glands that warrants further investigation. Cleared and stained specimens and microcomputed tomography data both revealed substantial osteological differences in skull morphology. Compared with searching males, guarding males have increased skull ossification, fewer and larger teeth, and more pronounced otic and squamosal crests. Together, these data expand our knowledge of morphological differences between alternative reproductive tactics, and we discuss the implications of our results for hypotheses regarding phenotypic plasticity throughout the lifetime of an individual male. [ABSTRACT FROM AUTHOR]

Rare diseases have become an increasingly important public health priority due to their collective prevalence and often life-threatening nature. Incentive programs, such as the Orphan Drug Act have been introduced to increase the development of rare disease therapeutics. While the approval of these therapeutics requires supportive data from stringent pre-market studies, these data lack the ability to describe the causes of treatment response heterogeneity, leading to medications often being more harmful or less effective than predicted. If a Goal Line were to be used to describe the multifactorial continuum of phenotypic variations occurring in response to a medication, the 'Goal Posts', or the two defining points of this continuum, would be (1) Super-Response, or an extraordinary therapeutic effect; and (2) Serious Harm. Investigation of the pharmacogenomics behind these two extreme phenotypes can potentially lead to the development of new therapeutics, help inform rational use criteria in drug policy, and improve the understanding of underlying disease pathophysiology. In the context of rare diseases where cohort sizes are smaller than ideal, 'small data' and 'big data' approaches to data collection and analysis should be combined to produce the most robust results. This paper presents the importance of studying drug response in parallel to other research initiatives in rare diseases, as well as the need for international collaboration in the area of rare disease pharmacogenomics. [ABSTRACT FROM AUTHOR]

The ability to balance the allocation of resources between growth and reproduction as a response to stress factors, can be an advantage for plants in disturbed environments. Invasive alien plants (IAPs) often show high levels of phenotypic variability in resource allocation, a key trait that plays a crucial role in their success to invade new areas. Control management for IAPs must consider this capacity in the development of effective strategies. In this study, we performed continuous measures of leaf growth and reproductive traits of Cortaderia selloana, an IAP of global concern, and applied generalised linear models (GLMs) to evaluate trade‐offs between vegetative growth, leaf composition and reproductive success at different cutting moments. Cutting moment, but not flowering, affected the length of the vegetative growth period (VGP) and average growth rate (AGR), and the interaction with flowering affected AGR and final leaf length (vegetative growth total, VGT). Specific leaf area (SLA), leaf nitrogen (N) content and the isotopic value of δ13C were affected by cutting, and N was also affected by flowering and the interaction with cutting time. Silica also showed a negative correlation with leaf carbon (C) depicting a trade‐off between both structural components. Cortaderia selloana successfully adapted its leaf growth and composition to cutting moment, but this was also modulated by flowering. Moreover, the species is dioecious, and its response may differ between female and hermaphroditic plants. This suggests flexible trade‐offs in resource allocation, therefore the time for cutting must be precisely scheduled to suppress flowering. [ABSTRACT FROM AUTHOR]

The nutrient artery provides ~50%–70% of the total blood volume to long bones in mammals. Studying the functional characteristics of this artery in vivo can be difficult and expensive, so most researchers have measured the nutrient foramen, an opening on the outer surface of the bone that served as the entry point for the nutrient artery during development and bone ossification. Others have measured the nutrient canal (i.e., the passage which the nutrient artery once occupied), given that the external dimensions of the foramen do not necessarily remain uniform from the periosteal surface to the medullary cavity. The nutrient canal, as an indicator of blood flow to long bones, has been proposed to provide a link to studying organismal activity (e.g., locomotor behavior) from skeletal morphology. However, although external loading from movement and activity causes skeletal remodeling, it is unclear whether it affects the size or configuration of nutrient canals. To investigate whether nutrient canals can exhibit phenotypic plasticity in response to physical activity, we studied a mouse model in which four replicate high runner (HR) lines have been selectively bred for high voluntary wheel‐running behavior. The selection criterion is the average number of wheel revolutions on days 5 and 6 of a 6‐day period of wheel access as young adults (~6–8 weeks old). An additional four lines are bred without selection to serve as controls (C). For this study, 100 female mice (half HR, half C) from generation 57 were split into an active group housed with wheels and a sedentary group housed without wheels for 12 weeks starting at ~24 days of age. Femurs were collected, soft tissues were removed, and femora were micro‐computed tomography scanned at a resolution of 12 μm. We then imported these scans into AMIRA and created 3D models of femoral nutrient canals. We tested for evolved differences in various nutrient canal traits between HR and C mice, plastic changes resulting from chronic exercise, and the selection history‐by‐exercise interaction. We found few differences between the nutrient canals of HR versus C mice, or between the active and sedentary groups. We did find an interaction between selection history and voluntary exercise for the total number of nutrient canals per femur, in which wheel access increased the number of canals in C mice but decreased it in HR mice. Our results do not match those from an earlier study, conducted at generation 11, which was prior to the HR lines reaching selection limits for wheel running. The previous study found that mice from the HR lines had significantly larger total canal cross‐sectional areas compared to those from C lines. However, this discrepancy is consistent with studies of other skeletal traits, which have found differences between HR and C mice to be somewhat inconsistent across generations, including the loss of some apparent adaptations with continued selective breeding after reaching a selection limit for wheel‐running behavior. [ABSTRACT FROM AUTHOR]

Background and Aims The duckweeds (Lemnaceae) consist of 36 species exhibiting impressive phenotypic variation, including the progressive evolutionary loss of a fundamental plant organ, the root. Loss of roots and reduction of vascular tissues in recently derived taxa occur in concert with genome expansions of ≤14-fold. Given the paired loss of roots and reduction in structural complexity in derived taxa, we focus on the evolution of the ionome (whole-plant elemental contents) in the context of these fundamental changes in body plan. We expect that progressive vestigiality and eventual loss of roots might have both adaptive and maladaptive consequences that are hitherto unknown. Methods We quantified the ionomes of 34 accessions in 21 species across all duckweed genera, spanning 70 Myr in this rapidly cycling plant (doubling times are as rapid as ~24 h). We related both micro- and macroevolutionary ionome contrasts to body plan remodelling and showed nimble microevolutionary shifts in elemental accumulation and exclusion in novel accessions. Key Results We observed a robust directional trend in calcium and magnesium levels, decreasing from the ancestral representative Spirodela genus towards the derived rootless Wolffia , with the latter also accumulating cadmium. We also identified abundant within-species variation and hyperaccumulators of specific elements, with this extensive variation at the fine (as opposed to broad) scale. Conclusions These data underscore the impact of root loss and reveal the very fine scale of microevolutionary variation in hyperaccumulation and exclusion of a wide range of elements. Broadly, they might point to trade-offs not well recognized in ionomes. [ABSTRACT FROM AUTHOR]

Induced by climate change associated disturbances and further promoted by changes in forest management, the proportion of European beech, a highly competitive climax species, is increasing in Central Europe. However, its climatic stability is questioned by the recent loss of vitality. In this regard, the evaluation of seed sources used for reforestation receives great attention. Here, we present a multi-trait evaluation of height, basal area and stem quality assessed over 25 years for 85 provenances grown at three sites in northern, western and eastern Germany. Considerable provenance differentiation exists, explaining 21% (proportion of trees with acceptable stem form) to 45% (basal area) of the variance on single sites and 20 to 39% across sites, while provenance by environment interactions are absent. On the landscape level, this results in distinct patterns with spatially adjacent provenances showing a similar trait expression. These patterns are highly similar for height and basal area but divergent for stem form. They could be directly linked to geographic variables with multivariate regression tree analysis that captured 58% of the phenotypic variation, delineating eleven 'ecotypes' shaped by local adaptation. A selection based on two multi-trait indices gives highly concordant results. Particularly, the intermediate elevations of the central highlands in Western Germany host highly suitable provenances. Lower elevation provenances from continental climates in the south-east profit from the transfer to favorable growing conditions. Since the majority of provenances was already exposed to elevated temperatures compared to their origin during the observation period, this study gives a first indication for the potential benefits of assisted migration facing climate change. [ABSTRACT FROM AUTHOR]

In most ectotherms, several life‐history traits, including body size, respond to environmental conditions through the temperature–size rule (TSR). The mechanisms underlying the TSR are still being debated, but studying idiobiont insect parasitoids, which develop with a fixed amount of resources, may shed light on this relationship. In this study, we conducted experiments to determine how the developmental temperature affects various characteristics of male and female Trichogramma euproctidis (Girault) (Hymenoptera: Trichogrammatidae), an idiobiont egg parasitoid of Lepidoptera. The study tested various hypotheses, including the cellular or oxygen diffusion hypotheses and the resource acquisition hypothesis, to understand whether T. euproctidis follows the TSR. The developmental time of both male and female T. euproctidis decreased with increasing temperature. Both males and females displayed a unimodal distribution for size, dry mass, and lipid content, with individuals at lower and higher temperatures being smaller, weighing less, and containing fewer lipids. Female lifetime fecundity increased from 13 to 24 °C and then decreased at 31 °C. Additionally, the number and size of gametes in male and female T. euproctidis displayed a unimodal distribution with increasing temperature. Trichogramma euproctidis deviates from the TSR as it follows a non‐linear reaction norm with an optimal developmental temperature. This result supports the hypothesis that for species following TSR and having unlimited access to food resources, the resource acquisition hypothesis is a significant mechanism explaining the TSR. With climate change affecting temperature, understanding the TSR is crucial, and research on insect parasitoids may help reveal how the interplay between environmental temperature and resource allocation affects the TSR in natural populations. [ABSTRACT FROM AUTHOR]

While DNA serves as the fundamental genetic blueprint for an organism, it is not a static entity. Gene expression, the process by which genetic information is utilized to create functional products like proteins, can be modulated by a diverse range of environmental factors. Epigenetic mechanisms, including DNA methylation, histone modification, and microRNAs, play a pivotal role in mediating the intricate interplay between the environment and gene expression. Intriguingly, alterations in the epigenome have the potential to be inherited across generations. Alcohol use disorder (AUD) poses significant health issues worldwide. Alcohol has the capability to induce changes in the epigenome, which can be inherited by offspring, thus impacting them even in the absence of direct alcohol exposure. This review delves into the impact of alcohol on the epigenome, examining how its effects vary based on factors such as the age of exposure (adolescence or adulthood), the duration of exposure (chronic or acute), and the specific sample collected (brain, blood, or sperm). The literature underscores that alcohol exposure can elicit diverse effects on the epigenome during different life stages. Furthermore, compelling evidence from human and animal studies demonstrates that alcohol induces alterations in epigenome content, affecting both the brain and blood. Notably, rodent studies suggest that these epigenetic changes can result in lasting phenotype alterations that extend across at least two generations. In conclusion, the comprehensive literature analysis supports the notion that alcohol exposure induces lasting epigenetic alterations, influencing the behavior and health of future generations. This knowledge emphasizes the significance of addressing the potential transgenerational effects of alcohol and highlights the importance of preventive measures to minimize the adverse impact on offspring. [Display omitted] • Chronic ethanol consumption alters the epigenome, such as DNA methylation. • Ethanol consumption before gestation affects offspring. • Ethanol alters behavior in offspring who were not prenatally exposed. [ABSTRACT FROM AUTHOR]

We conducted a comprehensive study on the diversity of Silene aucheriana Boiss. populations by analyzing both morphological data and nrDNA ITS sequences. Maximum parsimony and Bayesian methods on representative material from 15 populations throughout Iran demonstrated that they did not form a monophyletic group. Strong positive correlation occurred between epipetalous filaments length to claw (EFLC), basal leaf length (BLL), basal leaf width (BLW), and plant height (PLH) with elevation. While negative correlation achieved between anthophore length (AnL) with the average air temperature and rainfall. Canonical Correspondence Analysis (CCA) showed that most morphological traits were more correlated to elevation than to average rainfall and temperature. Multivariate analysis of morphological traits with ITS analysis displayed a slight divergence between two types of regions based on their elevation. [ABSTRACT FROM AUTHOR]

Background: The increasing impacts of heat stress on wheat production due to climate change has entailed the development of heat-resilient crop varieties. To address this, two hundred recombinant inbred lines (RILs) derived from a cross between WH711/WH1021 were evaluated in a randomized block design (RBD) with two replications at CCSHAU, Hisar, during 2018-19 under heat stress and non-stress conditions. Heat stress was induced by altering the date of sowing so that the grain filling stage coincide with heat stress. Results: Heat stress adversely affects RILs performance, as illustrated by alterations in phenotypic traits. Highest coefficients of variations were recorded for TAA, CTD 1, WUE, CTD 2, Cc and A under non-stress and heat stress conditions whereas gs, WUEi and GY under non-stress and SPAD 1, SPAD 2, GY and NDVI 2 under heat-stress conditions recorded moderate estimates of coefficient of variations. CTD 2, TAA, E, WUE and A displayed a significant occurrence of both high heritability and substantial genetic advance under non-stress. Similarly, CTD 2, NDVI 2, A, WUEi, SPAD 2, gs, E, Ci, MDA and WUE exhibited high heritability with high genetic advance under heat-stress conditions. Conclusions: Complementary and duplicate types of interactions with number of controlling genes were observed for different parameters depending on the traits and environments. RILs 41, 42, 59, 74, 75, 180 and 194 were categorized as heat tolerant RILs. Selection preferably for NDVI 1, RWC, TAA, A, E and WUEi to accumulate heat tolerance favorable alleles in the selected RILs is suggested for development of heat resilient genotypes for sustainable crop improvement. The results showed that traits such as such as NDVI, RWC, TAA, A, E, and WUEi, can be effective for developing heat-resilient wheat genotypes and ensuring sustainable crop improvement. [ABSTRACT FROM AUTHOR]

Copy Number Variants (CNV) are modifications affecting the genome sequence of DNA, for instance, they can be duplications or deletions of a considerable number of base pairs (i.e., greater than 1000 bp and up to millions of bp). Their impact on the variation of the phenotypic traits has been widely demonstrated. In addition, CNVs are a class of markers useful to identify the genetic biodiversity among populations related to adaptation to the environment. The aim of this study was to detect CNVs in more than four thousand Holstein cows, using information derived by a genotyping done with the GGP (GeneSeek Genomic Profiler) bovine 100K SNP chip. To detect CNV the SVS 8.9 software was used, then CNV regions (CNVRs) were detected. A total of 123,814 CNVs (4,150 non redundant) were called and aggregated into 1,397 CNVRs. The PCA results obtained using the CNVs information, showed that there is some variability among animals. For many genes annotated within the CNVRs, the role in immune response is well known, as well as their association with important and economic traits object of selection in Holstein, such as milk production and quality, udder conformation and body morphology. Comparison with reference revealed unique CNVRs of the Holstein breed, and others in common with Jersey and Brown. The information regarding CNVs represents a valuable resource to understand how this class of markers may improve the accuracy in prediction of genomic value, nowadays solely based on SNPs markers. [ABSTRACT FROM AUTHOR]

Diversity and its drivers and consequences are at the heart of ecological research. Mostly, studies have focused on different species, but if the causes for increases or decreases in diversity are general, the observed patterns should also be observable within genotypes. As previous research shows that there is higher variability in nitrogen to phosphorus ratios (N/P) between slow-growing unicellular algal populations, compared to fast-growing ones, we expected to observe similar patterns within genetically identical strains growing at different rates. We tested this hypothesis in a laboratory experiment performed with a monoculture of the diatom Phaeodactylum tricornutum. Using a growth rate gradient obtained with 10 chemostats, we were able to determine the effect of growth rate on the diatom's elemental stoichiometry as well as on selected traits, such as cell size and shape. Our results showed indeed less intercellular variability (in the selected traits assessed on single-cell level) in the faster-growing populations, which was accompanied by a downward trend in bulk N/P ratios. We pose that this higher variability at lower growth rates potentially results in higher variability of the food sources available for higher trophic levels with potential consequences for the transfer efficiency of energy and matter in marine food webs. [ABSTRACT FROM AUTHOR]

Congenital hyperinsulinism (CHI) is a rare disorder of glucose metabolism and is the most common cause of severe and persistent hypoglycemia (hyperinsulinemic hypoglycemia, HH) in the neonatal period and childhood. Most cases are caused by mutations in the ABCC8 and KCNJ11 genes that encode the ATP-sensitive potassium channel (KATP). We present the correlation between genetic heterogeneity and the variable phenotype in patients with early-onset HH caused by ABCC8 gene mutations. In the first patient, who presented persistent severe hypoglycemia since the first day of life, molecular genetic testing revealed the presence of a homozygous mutation in the ABCC8 gene [deletion in the ABCC8 gene c.(2390+1_2391-1)_(3329+1_3330-1)del] that correlated with a diffuse form of hyperinsulinism (the parents being healthy heterozygous carriers). In the second patient, the onset was on the third day of life with severe hypoglycemia, and genetic testing identified a heterozygous mutation in the ABCC8 gene c.1792C>T (p.Arg598*) inherited on the paternal line, which led to the diagnosis of the focal form of hyperinsulinism. To locate the focal lesions, (18)F-DOPA (3,4-dihydroxy-6-[18F]fluoro-L-phenylalanine) positron emission tomography/computed tomography (PET/CT) was recommended (an investigation that cannot be carried out in the country), but the parents refused to carry out the investigation abroad. In this case, early surgical treatment could have been curative. In addition, the second child also presented secondary adrenal insufficiency requiring replacement therapy. At the same time, she developed early recurrent seizures that required antiepileptic treatment. We emphasize the importance of molecular genetic testing for diagnosis, management and genetic counseling in patients with HH. [ABSTRACT FROM AUTHOR]

Doublecortin, encoded by the DCX gene, plays a crucial role in the neuronal migration process during brain development. Pathogenic variants of the DCX gene are the major causes of the "lissencephaly (LIS) spectrum", which comprehends a milder phenotype like Subcortical Band Heterotopia (SBH) in heterozygous female subjects. We performed targeted sequencing in three unrelated female cases with SBH. We identified three DCX-related variants: a novel missense (c.601A>G: p.Lys201Glu), a novel nonsense (c.210C>G: p.Tyr70*), and a previously identified nonsense (c.907C>T: p.Arg303*) variant. The novel c.601A>G: p.Lys201Glu variant shows a mother–daughter transmission pattern across four generations. The proband exhibits focal epilepsy and achieved seizure freedom with a combination of oxcarbazepine and levetiracetam. All other affected members have no history of epileptic seizures. Brain MRIs of the affected members shows predominant fronto-central SBH with mixed pachygyria on the overlying cortex. The two nonsense variants were identified in two unrelated probands with SBH, severe drug-resistant epilepsy and intellectual disability. These novel DCX variants further expand the genotypic–phenotypic correlations of lissencephaly spectrum disorders. Our documented phenotypic descriptions of three unrelated families provide valuable insights and stimulate further discussions on DCX-SBH cases. [ABSTRACT FROM AUTHOR]

Understanding how phenotypic divergence arises among natural populations remains one of the major goals in evolutionary biology. As part of competitive exclusion experiment conducted in 1971, 10 individuals of Italian wall lizard (Podarcis siculus (Rafinesque‐Schmaltz, 1810)) were transplanted from Pod Kopište Island to the nearby island of Pod Mrčaru (Adriatic Sea). Merely 35 years after the introduction, the newly established population on Pod Mrčaru Island had shifted their diet from predominantly insectivorous towards omnivorous and changed significantly in a range of morphological, behavioural, physiological and ecological characteristics. Here, we combine genomic and quantitative genetic approaches to determine the relative roles of genetic adaptation and phenotypic plasticity in driving this rapid phenotypic shift. Our results show genome‐wide genetic differentiation between ancestral and transplanted population, with weak genetic erosion on Pod Mrčaru Island. Adaptive processes following the founder event are indicated by highly differentiated genomic loci associating with ecologically relevant phenotypic traits, and/or having a putatively adaptive role across multiple lizard populations. Diverged traits related to head size and shape or bite force showed moderate heritability in a crossing experiment, but between‐population differences in these traits did not persist in a common garden environment. Our results confirm the existence of sufficient additive genetic variance for traits to evolve under selection while also demonstrating that phenotypic plasticity and/or genotype by environment interactions are the main drivers of population differentiation at this early evolutionary stage. [ABSTRACT FROM AUTHOR]

Background: The fusiform aneurysm is a nonsaccular dilatation affecting the entire vessel wall over a short distance. Although PDGFRB somatic variants have been identified in fusiform intracranial aneurysms, the molecular and cellular mechanisms driving fusiform intracranial aneurysms due to PDGFRB somatic variants remain poorly understood. Methods: In this study, single-cell sequencing and immunofluorescence were employed to investigate the phenotypic changes in smooth muscle cells within fusiform intracranial aneurysms. Whole-exome sequencing revealed the presence of PDGFRB gene mutations in fusiform intracranial aneurysms. Subsequent immunoprecipitation experiments further explored the functional alterations of these mutated PDGFRB proteins. For the common c.1684 mutation site of PDGFRβ, we established mutant smooth muscle cell lines and zebrafish models. These models allowed us to simulate the effects of PDGFRB mutations. We explored the major downstream cellular pathways affected by PDGFRBY562D mutations and evaluated the potential therapeutic effects of Ruxolitinib. Results: Single-cell sequencing of two fusiform intracranial aneurysms sample revealed downregulated smooth muscle cell markers and overexpression of inflammation-related markers in vascular smooth muscle cells, which was validated by immunofluorescence staining, indicating smooth muscle cell phenotype modulation is involved in fusiform aneurysm. Whole-exome sequencing was performed on seven intracranial aneurysms (six fusiform and one saccular) and PDGFRB somatic mutations were detected in four fusiform aneurysms. Laser microdissection and Sanger sequencing results indicated that the PDGFRB mutations were present in smooth muscle layer. For the c.1684 (chr5: 149505131) site mutation reported many times, further cell experiments showed that PDGFRBY562D mutations promoted inflammatory-related vascular smooth muscle cell phenotype and JAK-STAT pathway played a crucial role in the process. Notably, transfection of PDGFRBY562D in zebrafish embryos resulted in cerebral vascular anomalies. Ruxolitinib, the JAK inhibitor, could reversed the smooth muscle cells phenotype modulation in vitro and inhibit the vascular anomalies in zebrafish induced by PDGFRB mutation. Conclusion: Our findings suggested that PDGFRB somatic variants played a role in regulating smooth muscle cells phenotype modulation in fusiform aneurysms and offered a potential therapeutic option for fusiform aneurysms. [ABSTRACT FROM AUTHOR]

Phenotypic differences among populations stem from the interaction between neutral and adaptive processes, and phenotypic plasticity. Although clinal trait variation along climatic gradients often evolves in widely distributed species, it is unknown whether substrate specialization, such as that of Mediterranean gypsum plants, has constrained adaptation to climate. Using a common garden experiment with two contrasting watering treatments, we quantified phenotypic plasticity, assessed evidence for footprints of selection using FST – QST comparisons, and evaluated the ecological factors driving genetically based phenotypic differentiation of 11 populations encompassing the full environmental range of the gypsum shrub Lepidium subulatum. We found evidence for genetic differentiation among populations related to climatic differences, with populations from warmer and drier sites showing lower specific leaf area and leaf N, earlier phenology, greater water use efficiency and greater fitness. Multiple lines of evidence suggest that this differentiation was driven by past divergent selection rather than neutral processes. All populations showed high phenotypic plasticity, indicating that plasticity has not been selected against, even in populations from sites with harsher climatic conditions. Synthesis. Our results indicate that despite strong substrate specialization, adaptive differentiation related to climatic gradients occurs in this species. However, we also found that populations from mesic sites may be particularly vulnerable to future climate change given their relatively lower fitness under both wet and dry conditions. [ABSTRACT FROM AUTHOR]

Response of growth and morphology of Dracaena cambodiana seedlings, a rare and endangered plant, was studied by observing its response to five artificially controlled water supply levels. The results indicated that different levels of water supply significantly affected morphological indices and biomass. Except for specific leaf area, the ratio of leaf length to width and plant height, other indicators reached significant levels (P<0. 05). The allocation of biomass is mainly related to root traits, and there is no significant difference in chlorophyll and carotenoid content among different treatments in seedlings. According to the analysis, the seedlings could make full use of water to achieve rapid growth in the short and concentrated rainy season, and allocating more biomass to the root was good for the severe drought season after the rainy season. In summary, the seedlings of Dracaena cambodiana had strong ecological adaptability to the survival strategy of water response. [ABSTRACT FROM AUTHOR]

The Ang-(1–7)/MasR axis is critically involved in treating several diseases; For example, Ang-(1–7) improves inflammatory response and neurological function after traumatic brain injury and inhibits post-inflammatory hypothermia. However, its function in traumatic brain injury (TBI) combined with seawater immersion hypothermia remains unclear. Here, we used a mice model of hypothermic TBI and a BV2 cell model of hypothermic inflammation to investigate whether the Ang-(1–7)/MasR axis is involved in ameliorating hypothermic TBI. Quantitative reverse transcription PCR, western blotting assay, and immunofluorescence assay were performed to confirm microglia polarization and cytokine regulation. Hematoxylin-eosin staining, Nissl staining, and immunohistochemical assay were conducted to assess the extent of hypothermic TBI-induced damage and the ameliorative effect of Ang-(1–7) in mice. An open field experiment and neurological function scoring with two approaches were used to assess the degree of recovery and prognosis in mice. After hypothermic TBI establishment in BV2 cells, the Ang-(1–7)/MasR axis induced phenotypic transformation of microglia from M1 to M2, inhibited IL-6 and IL-1β release, and upregulated IL-4 and IL-10 levels. After hypothermic TBI development in mice, intraperitoneally administered Ang-(1–7) attenuated histological damage and promoted neurological recovery. These findings suggest that hypothermia exacerbates TBI-induced damage and that the Ang-(1–7)/MasR axis can ameliorate hypothermic TBI and directly affect prognosis. [ABSTRACT FROM AUTHOR]

Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting approximately 80% of all human proteins. The human essential X-linked gene, NAA10, encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex. There is extensive genetic variation in humans with missense, splice-site, and C-terminal frameshift variants in NAA10. In mice, Naa10 is not an essential gene, as there exists a paralogous gene, Naa12, that substantially rescues Naa10 knockout mice from embryonic lethality, whereas double knockouts (Naa10-/Y Naa12-/-) are embryonic lethal. However, the phenotypic variability in the mice is nonetheless quite extensive, including piebaldism, skeletal defects, small size, hydrocephaly, hydronephrosis, and neonatal lethality. Here we replicate these phenotypes with new genetic alleles in mice, but we demonstrate their modulation by genetic background and environmental effects. We cannot replicate a prior report of "maternal effect lethality" for heterozygous Naa10-/X female mice, but we do observe a small amount of embryonic lethality in the Naa10-/y male mice on the inbred genetic background in this different animal facility. [ABSTRACT FROM AUTHOR]

Plant species respond to varying plant species diversity and associated changes in their abiotic and biotic environment with changes in their phenotype. However, it is not clear to what degree this phenotypic differentiation is due to genotype diversity within populations or phenotypic plasticity of plant individuals. We studied individuals of 16 populations of the clonal herb Taraxacum officinale grown in plant communities of different species richness in a 17‐year‐old grassland biodiversity experiment (Jena Experiment). We collected 12 individuals in each population to measure phenotypic traits and identify distinct genotypes using microsatellite DNA markers. Plant species richness did not influence population‐level genotype and trait diversity. However, it affected the expression of several phenotypic traits, e.g. leaf and inflorescence number, maximum leaf length and seed mass, which increased with increasing plant species richness. Moreover, population‐level trait diversity correlated positively with genotype richness for leaf dry matter content (LDMC) and negatively with inflorescence number. For several traits (i.e. seed mass, germination rate, LDMC, specific leaf area (SLA)), a larger portion of variance was explained by genotype identity, while variance in other traits (i.e. number of inflorescences, leaf nitrogen concentration, leaf number, leaf length) resided within genotypes and thus was mostly due to phenotypic plasticity. Overall, our findings show that plant species richness positively affected the population means of some traits related to whole‐plant performance, whose variation was achieved through both phenotypic plasticity and genotype composition of a population. [ABSTRACT FROM AUTHOR]

Phenotypic plasticity is the ability of an organism to alter its phenotype in response to environmental cues. This can be adaptive if the cues are reliable predictors of impending conditions and the alterations enhance the organism's ability to capitalize on those conditions. However, since traits do not exist in isolation but as part of larger interdependent systems of traits (phenotypic integration), trade‐offs between correlated plastic traits can make phenotypic plasticity non‐ or maladaptive. We examine this problem in the seasonally plastic wing melanism of a pierid (Order Lepidoptera, Family Pieridae) butterfly, Pieris rapae L. Several wing pattern traits are more melanized in colder than in warmer seasons, resulting in effective thermoregulation through solar absorption. However, other wing pattern traits, the spots, are less melanized during colder seasons than in warmer seasons. Although spot plasticity may be adaptive, reduced melanism of these spots could also be explained by resource‐based trade‐offs. Theory predicts that traits involved in resource‐based trade‐offs will be positively correlated when variation among individuals in resource acquisition is greater than variation among individuals in resource allocation strategies, and negatively correlated when variation in allocation is greater than variation in acquisition. Using data from both field studies and laboratory studies that manipulate dietary tyrosine, a melanin precursor, we show that when allocation to thermoregulatory melanism (ventral hindwing, and basal dorsal fore‐ and hindwing "shading") varies substantially this trait is negatively correlated with spot melanism. However, when there is less variation in allocation to thermoregulatory melanism we find these traits to be positively correlated; these findings are consistent with the resource‐based trade‐off hypothesis, which may provide a non‐ or maladaptive hypothesis to explain spot plasticity. We also show that increased dietary tyrosine results in increased spot melanism under some conditions, supporting the more general idea that melanism may involve resource‐based costs. [ABSTRACT FROM AUTHOR]

Simple Summary: The oriental fruit fly, Bactrocera dorsalis, negatively impacts global agriculture. One promising mitigation strategy is biological control, emphasizing a comprehensive understanding of predator influences: specifically, the effects of predation risk on B. dorsalis development and reproduction. Our study investigated the predation risk effects of the mantis Hierodula patellifera Serville on B. dorsalis. We found that exposure to this predator or its odor shortened developmental time and increased fecundity in female B. dorsalis. However, male development and the death weights for both sexes remained stable. Our findings extend the understanding of H. patellifera's predation risk effects on B. dorsalis' life history, shedding light on potential alterations in the fitness and population dynamics of B. dorsalis. Additionally, we identified the use of predator odor as a possible innovative method for controlling B. dorsalis. Predators are dependent on the capture of prey to meet their energetic and nutritive requirements, which brings the risk of predation to prey. The predation risk is divided into consumptive and non-consumptive effects. Non-consumptive effects may manifest through altered growth and ontogenetic trajectories in prey species, a dynamic modulated by olfactory or other sensory cues from predators. Bactrocera dorsalis Hendel represents a major invasive threat to global horticulture. While earlier research was primarily centered on the consumptive interactions between B. dorsalis and its natural enemies, the potential consequences of non-consumptive interactions on the development of B. dorsalis have been overlooked. In this study, we investigated the impact of predation risk effects, induced by both visual exposure to the predatory mantis Hierodula patellifera Serville and its associated odor, on the life history traits of B. dorsalis. Female B. dorsalis demonstrated a reduced developmental time in the presence of a caged predator (H. patellifera) or predator odors, but showed significantly increased fecundity. Conversely, males displayed no significant change in developmental time. Additionally, neither the female nor male body weight at death was significantly influenced by the predation risk from the caged predator or predator odors. This study investigated the effects of predation risk on the development and reproduction of B. dorsalis, emphasizing the potential importance of odor risk in biological and pest control. [ABSTRACT FROM AUTHOR]

CHARGE syndrome, characterized by a distinct set of clinical features, has been linked primarily to mutations in the CHD7 gene. Initially defined by specific clinical criteria, including coloboma, heart defects, choanal atresia, delayed growth, and ear anomalies, CHARGE syndrome's diagnostic spectrum has broadened since the identification of CHD7. Variants in this gene exhibit considerable phenotypic variability, leading to the adoption of the term "CHD7 disorder" to encompass a wider range of associated symptoms. Recent research has identified CHD7 variants in individuals with isolated features such as autism spectrum disorder or gonadotropin-releasing hormone deficiency. In this study, we present three cases from two different families exhibiting audiovestibular impairment as the primary manifestation of a CHD7 variant. We discuss the expanding phenotypic variability observed in CHD7-related disorders, highlighting the importance of considering CHD7 in nonsyndromic hearing loss cases, especially when accompanied by inner ear malformations on MRI. Additionally, we underscore the necessity of genetic counseling and comprehensive clinical evaluation for individuals with CHD7 variants to ensure appropriate management of associated health concerns. [ABSTRACT FROM AUTHOR]

Many organisms facultatively produce different phenotypes depending on their environment, yet relatively little is known about the genetic bases of such plasticity in natural populations. In this study, we describe the genetic variation underlying an extreme form of plasticity––resource polyphenism––in Mexican spadefoot toad tadpoles, Spea multiplicata. Depending on their environment, these tadpoles develop into one of two drastically different forms: a carnivore morph or an omnivore morph. We collected both morphs from two ponds that differed in which morph had an adaptive advantage and performed genome-wide association studies of phenotype (carnivore vs. omnivore) and adaptive plasticity (adaptive vs. maladaptive environmental assessment). We identified four quantitative trait loci associated with phenotype and nine with adaptive plasticity, two of which exhibited signatures of minor allele dominance and two of which (one phenotype locus and one adaptive plasticity locus) did not occur as minor allele homozygotes. Investigations into the genetics of plastic traits in natural populations promise to provide novel insights into how such complex, adaptive traits arise and evolve. [ABSTRACT FROM AUTHOR]

Hearing impairment, a rare inherited condition, is notably prevalent in populations with high rates of consanguinity. The most common form observed globally is autosomal recessive non-syndromic hearing loss. Despite its prevalence, this genetic disorder is characterized by a substantial genetic diversity, making diagnosis and screening challenging. The emergence of advanced next-generation sequencing (NGS) technologies has significantly advanced the discovery of genes and variants linked to various conditions, such as hearing loss. In this study, our objective was to identify the specific variant causing hearing loss in a family from Syria using clinical exome sequencing. The proband in the family exhibited profound deafness as shown by pure-tone audiometry results. The analysis of the different variants obtained by NGS revealed the presence of a nonsense mutation within the CLDN14 gene. Through Sanger sequencing, we verified that this variant segregates with the disease and was not present in the control population. Moreover, we conducted a comprehensive review of all reported deafness-related CLDN14 mutations and their associated phenotypes. Furthermore, we endeavored to carry out a comparative analysis between the CLDN14 and GJB2 genes, with the objective of identifying potential factors that could explain the notable discrepancy in mutation frequency between these two genes. [ABSTRACT FROM AUTHOR]

Adams–Oliver syndrome is a rare inherited condition characterized by scalp defects and limb abnormalities. It is caused by variants in different genes such as ARHGAP31. Here, we used an interdisciplinary approach to study a family with lower limb anomalies. We identified a novel variant in the ARHGAP31 gene that is predicted to result in a truncated protein with a constitutively activated catalytic site due to the loss of 688 amino acids involved in the C-terminal domain, essential for protein auto-inhibition. Pathogenic variants in ARHGAP31 exon 12, leading to a premature protein termination, are associated with Adams–Oliver syndrome. Bioinformatic analysis was useful to elucidate the impact of the identified genetic variant on protein structure. To better understand the impact of the identified variant, 3D protein models were predicted for the ARHGAP31 wild type, the newly discovered variant, and other pathogenetic alterations already reported. Our study identified a novel variant probably involved in Adams–Oliver syndrome and increased the evidence on the phenotypic variability in patients affected by this syndrome, underlining the importance of translational research, including experimental and bioinformatics analyses. This strategy represents a successful model to investigate molecular mechanisms involved in syndrome occurrence. [ABSTRACT FROM AUTHOR]

The social environment has myriad effects on individuals, altering reproduction, immune function, cognition, and aging. Phenotypic plasticity enables animals to respond to heterogeneous environments such as the social environment but requires that they assess those environments accurately. It has been suggested that combinations of sensory cues allow animals to respond rapidly and accurately to changeable environments, but it is unclear whether the same sensory inputs are required in all traits that respond to a particular environmental cue. Drosophila melanogaster males, in the presence of rival males, exhibit a consistent behavioral response by extending mating duration. However, exposure to a rival also results in a reduction in their lifespan, a phenomenon interpreted as a trade-off associated with sperm competition strategies. D. melanogaster perceive their rivals by using multiple sensory cues; interfering with at least two olfactory, auditory, or tactile cues eliminates the extension of mating duration. Here, we assessed whether these same cues were implicated in the lifespan reduction. Removal of combinations of auditory and olfactory cues removed the extended mating duration response to a rival, as previously found. However, we found that these manipulations did not alter the reduction in lifespan of males exposed to rivals or induce any changes in activity patterns, grooming, or male–male aggression. Therefore, our analysis suggests that lifespan reduction is not a cost associated with the behavioral responses to sperm competition. Moreover, this highlights the trait-specific nature of the mechanisms underlying plasticity in response to the same environmental conditions. [ABSTRACT FROM AUTHOR]

Aspergillus flavus is an agriculturally significant micro‐fungus having potential to contaminate food and feed crops with toxic secondary metabolites such as aflatoxin (AF) and cyclopiazonic acid (CPA). Research has shown A. flavus strains can overcome heterokaryon incompatibility and undergo meiotic recombination as teleomorphs. Although evidence of recombination in the AF gene cluster has been reported, the impacts of recombination on genotype and metabolomic phenotype in a single generation are lacking. In previous studies, we paired an aflatoxigenic MAT1‐1 A. flavus strain with a non‐aflatoxigenic MAT1‐2 A. flavus strain that had been tagged with green fluorescent protein and then 10 F1 progenies (a mix of fluorescent and non‐fluorescent) were randomly selected from single‐ascospore colonies and broadly examined for evidence of recombination. In this study, we determined four of those 10 F1 progenies were recombinants because they were not vegetatively compatible with either parent or their siblings, and they exhibited other distinctive traits that could only result from meiotic recombination. The other six progenies examined shared genomic identity with the non‐aflatoxigenic, fluorescent, and MAT1‐2 parent, but were metabolically distinct. This study highlights phenotypic and genomic changes that may occur in a single generation from the outcrossing of sexually compatible strains of A. flavus. [ABSTRACT FROM AUTHOR]

Objective: Most individuals with Friedreich ataxia (FRDA) have homozygous GAA triplet repeat expansions in the FXN gene, correlating with a typical phenotype of ataxia and cardiomyopathy. A minority are compound heterozygotes carrying a GAA expansion on one allele and a mutation on the other. The study aim was to examine phenotypic variation among compound heterozygotes. Methods: Data on FXN mutations were obtained from the Friedreich Ataxia Clinical Outcome Measures Study (FA‐COMS). We compared clinical features in a single‐site FA‐COMS cohort of 51 compound heterozygous and 358 homozygous patients, including quantitative measures of cardiac, neurologic, and visual disease progression. Results: Non‐GAA repeat mutations were associated with reduced cardiac disease, and patients with minimal/no function mutations otherwise had a typical FRDA phenotype but with significantly more severe progression. The partial function mutation group was characterized by relative sparing of bulbar and upper limb function, as well as particularly low cardiac involvement. Other clinical features in this group, including optic atrophy and diabetes mellitus, varied widely depending on the specific type of partial function mutation. Interpretation: These data support that the typical FRDA phenotype is driven by frataxin deficiency, especially severe in compound heterozygotes with minimal/no function mutations, whereas the heterogeneous presentations of those with partial function mutations may indicate other contributing factors to FRDA pathogenesis. [ABSTRACT FROM AUTHOR]

Epithelial-mesenchymal transition (EMT) is a crucial process with significance in the metastasis of malignant tumors. It is through the acquisition of plasticity that cancer cells become more mobile and gain the ability to metastasize to other tissues. The mesenchymal-epithelial transition (MET) is the return to an epithelial state, which allows for the formation of secondary tumors. Both processes, EMT and MET, are regulated by different pathways and different mediators, which affects the sophistication of the overall tumorigenesis process. Not insignificant are also cancer stem cells and their participation in the angiogenesis, which occur very intensively within tumors. Difficulties in effectively treating cancer are primarily dependent on the potential of cancer cells to rapidly expand and occupy secondarily vital organs. Due to the ability of these cells to spread, the concept of the circulating tumor cell (CTC) has emerged. Interestingly, CTCs exhibit molecular diversity and stem-like and mesenchymal features, even when derived from primary tumor tissue from a single patient. While EMT is necessary for metastasis, MET is required for CTCs to establish a secondary site. A thorough understanding of the processes that govern the balance between EMT and MET in malignancy is crucial. [ABSTRACT FROM AUTHOR]

The effect of UV-B radiation exposure on transgenerational plasticity, the phenomenon whereby the parental environment influences both the parent's and the offspring's phenotype, is poorly understood. To investigate the impact of exposing successive generations of rice plants to UV-B radiation on seed morphology and proanthocyanidin content, the local traditional rice variety 'Baijiaolaojing' was planted on terraces in Yuanyang county and subjected to enhanced UV-B radiation treatments. The radiation intensity that caused the maximum phenotypic plasticity (7.5 kJ·m−2) was selected for further study, and the rice crops were cultivated for four successive generations. The results show that in the same generation, enhanced UV-B radiation resulted in significant decreases in grain length, grain width, spike weight, and thousand-grain weight, as well as significant increases in empty grain percentage and proanthocyanidin content, compared with crops grown under natural light conditions. Proanthocyanidin content increased as the number of generations of rice exposed to radiation increased, but in generation G3, it decreased, along with the empty grain ratio. At the same time, biomass, tiller number, and thousand-grain weight increased, and rice growth returned to control levels. When the offspring's radiation memory and growth environment did not match, rice growth was negatively affected, and seed proanthocyanidin content was increased to maintain seed activity. The correlation analysis results show that phenylalanine ammonialyase (PAL), cinnamate-4-hydroxylase (C4H), dihydroflavonol 4-reductase (DFR), and 4-coumarate:CoA ligase (4CL) enzyme activity positively influenced proanthocyanidin content. Overall, UV-B radiation affected transgenerational plasticity in seed morphology and proanthocyanidin content, showing that rice was able to adapt to this stressor if previous generations had been continuously exposed to treatment. [ABSTRACT FROM AUTHOR]

A novel rare mutation in the pore region of Nav1.5 channels (p.L889V) has been found in three unrelated Spanish families that produces quite diverse phenotypic manifestations (Brugada syndrome, conduction disease, dilated cardiomyopathy, sinus node dysfunction, etc.) with variable penetrance among families. We clinically characterized the carriers and recorded the Na+ current (INa) generated by p.L889V and native (WT) Nav1.5 channels, alone or in combination, to obtain further insight into the genotypic–phenotypic relationships in patients carrying SCN5A mutations and in the molecular determinants of the Nav1.5 channel function. The variant produced a strong dominant negative effect (DNE) since the peak INa generated by p.L889V channels expressed in Chinese hamster ovary cells, either alone (−69.4 ± 9.0 pA/pF) or in combination with WT (−62.2 ± 14.6 pA/pF), was significantly (n ≥ 17, p < 0.05) reduced compared to that generated by WT channels alone (−199.1 ± 44.1 pA/pF). The mutation shifted the voltage dependence of channel activation and inactivation to depolarized potentials, did not modify the density of the late component of INa, slightly decreased the peak window current, accelerated the recovery from fast and slow inactivation, and slowed the induction kinetics of slow inactivation, decreasing the fraction of channels entering this inactivated state. The membrane expression of p.L889V channels was low, and in silico molecular experiments demonstrated profound alterations in the disposition of the pore region of the mutated channels. Despite the mutation producing a marked DNE and reduction in the INa and being located in a critical domain of the channel, its penetrance and expressivity are quite variable among the carriers. Our results reinforce the argument that the incomplete penetrance and phenotypic variability of SCN5A loss-of-function mutations are the result of a combination of multiple factors, making it difficult to predict their expressivity in the carriers despite the combination of clinical, genetic, and functional studies. [ABSTRACT FROM AUTHOR]

Our understanding of rare disease genetics has been shaped by a monogenic disease model. While the traditional monogenic disease model has been successful in identifying numerous disease-associated genes and significantly enlarged our knowledge in the field of human genetics, it has limitations in explaining phenomena like phenotypic variability and reduced penetrance. Widening the perspective beyond Mendelian inheritance has the potential to enable a better understanding of disease complexity in rare disorders. Digenic inheritance is the simplest instance of a non-Mendelian disorder, characterized by the functional interplay of variants in two disease-contributing genes. Known digenic disease causes show a range of pathomechanisms underlying digenic interplay, including direct and indirect gene product interactions as well as epigenetic modifications. This review aims to systematically explore the background of digenic inheritance in rare disorders, the approaches and challenges when investigating digenic inheritance, and the current evidence for digenic inheritance in mitochondrial disorders. [ABSTRACT FROM AUTHOR]

A key challenge in the management of populations is to quantify the impact of interventions in the face of environmental and phenotypic variability. However, accurate estimation of the effects of management and environment, in large‐scale ecological research is often limited by the expense of data collection, the inherent trade‐off between quality and quantity, and missing data.In this paper we develop a novel modelling framework, and demographically informed imputation scheme, to comprehensively account for the uncertainty generated by missing population, management, and herbicide resistance data. Using this framework and a large dataset (178 sites over 3 years) on the densities of a destructive arable weed (Alopecurus myosuroides) we investigate the effects of environment, management, and evolved herbicide resistance, on weed population dynamics.In this study we quantify the marginal effects of a suite of common management practices, including cropping, cultivation, and herbicide pressure, and evolved herbicide resistance, on weed population dynamics.Using this framework, we provide the first empirically backed demonstration that herbicide resistance is a key driver of population dynamics in arable weeds at regional scales. Whilst cultivation type had minimal impact on weed density, crop rotation, and earlier cultivation and drill dates consistently reduced infestation severity.Synthesis and applications: As we demonstrate that high herbicide resistance levels can produce extremely severe weed infestations, monitoring herbicide resistance is a priority for farmers across Western Europe. Furthermore, developing non‐chemical control methods is essential to control current weed populations, and prevent further resistance evolution. We recommend that planning interventions that centre on crop rotation and incorporate spring sewing and cultivation to provide the best reductions in weed densities. More generally, by directly accounting for missing data our framework permits the analysis of management practices with data that would otherwise be severely compromised. [ABSTRACT FROM AUTHOR]

Bryum is a moss genus that is widely distributed across the planet. Many of its species are characterized by large phenotypic and morphological plasticity, generating uncertainty in species identification exclusively based on morphological characteristics. In Antarctica, the extreme and harsh environmental conditions are further likely to promote intra-specific morphological variation, leading to complexity in the taxonomic attribution of Bryum species. In this study, we apply molecular phylogenetic analyses to assist in developing accurate species identification of B. pseudotriquetrum and two other relatively abundant Bryum species (B. archangelicum and B. pallescens) currently reported as Antarctic species. A total of 51 Bryum samples collected in Antarctica (22) and from all other continents (29) were sequenced for ITS nrDNA and rps 4 cpDNA regions, using markers widely used in moss phylogenetic studies. Phylogenetic trees were constructed including ITS (23) and rps 4 (34) sequences representing the three more frequent of the seven Bryum species currently reported from Antarctica as well as several other Bryum species and related genera, incorporating all sequence data available in the literature and accessible databases. The molecular analyses provide strong support for a match between morphological and molecular attribution of specimens identified as B. pseudotriquetrum. The data also provide evidence of currently unrecognized Bryum diversity in Antarctica, with the identification of one individual of B. uliginosum. However, the analyses suggest that all Antarctic specimens currently assigned to other Bryum species are morphological variants of B. pseudotriquetrum. The integration of molecular and morphological analyses supports the presence of B. pseudotriquetrum as the most widely distributed species of the genus in Antarctica and of B. uliginosum with a much more restricted distribution (South Sandwich Islands). Our data suggest that further investigation is required of B. archangelicum and B. pallescens in other continents globally, as the identity of none of the herbarium specimens examined in this study could be confirmed with molecular data. [ABSTRACT FROM AUTHOR]

Understanding how the early stages of sexual signal diversification proceed is critically important because these microevolutionary dynamics directly shape species trajectories and impact macroevolutionary patterns. Unfortunately, studying this is challenging because signals involve complex interactions between behavior, morphology, and physiology, much of which can only be measured in real-time. In Hawaii, male Pacific field cricket song attracts both females and a deadly parasitoid fly. Over the past two decades, there has been a marked increase in signal variation in Hawaiian populations of these crickets, including novel male morphs with distinct mating songs. We capitalize on this rare opportunity to track changes in morph composition over time in a population with three novel morphs, investigating how mate and parasitoid attraction (components of sexual and natural selection) may shape signal evolution. We find dramatic fluctuation in morph proportions over the three years of the study, including the arrival and rapid increase of one novel morph. Natural and sexual selection pressures act differently among morphs, with some more attractive to mates and others more protected from parasitism. Collectively, our results suggest that differential protection from parasitism among morphs, rather than mate attraction, aligns with recent patterns of phenotypic change in the wild. [ABSTRACT FROM AUTHOR]

Evolutionary stasis characterizes lineages that seldom speciate and show little phenotypic change over long stretches of geological time. Although lineages that appear to exhibit evolutionary stasis are often called living fossils, no single mechanism is thought to be responsible for their slow rates of morphological evolution and low species diversity. Some analyses of molecular evolutionary rates in a handful of living fossil lineages have indicated that these clades exhibit slow rates of genomic change. Here, we investigate mechanisms of evolutionary stasis using a dataset of 1,105 exons for 481 vertebrate species. We demonstrate that two ancient clades of ray-finned fishes classically called living fossils, gars and sturgeons, exhibit the lowest rates of molecular substitution in protein-coding genes among all jawed vertebrates. Comparably low rates of evolution are observed at fourfold degenerate sites in gars and sturgeons, implying a mechanism of stasis decoupled from selection that we speculate is linked to a highly effective DNA repair apparatus. We show that two gar species last sharing common ancestry over 100 million years ago produce morphologically intermediate and fertile hybrids in the wild. This makes gars the oldest naturally hybridizing divergence among eukaryotes and supports a theoretical prediction that slow rates of nucleotide substitution across the genome slow the accumulation of genetic incompatibilities, enabling hybridization across deeply divergent lineages and slowing the rate of speciation over geological timescales. Our results help establish molecular stasis as a barrier to speciation and phenotypic innovation and provide a mechanism to explain the low species diversity in living fossil lineages. [ABSTRACT FROM AUTHOR]

Livebearing fishes (Poeciliidae) have been used as models to test several aspects of life history theory. Previous work in these fishes showed that traits such as age and size at maturity, reproductive allocation, and number and size of offspring can each be shaped by natural selection. Life history traits can also be influenced by the environment, and in some cases, such phenotypic plasticity can also be adaptive. Resource availability in the environment can affect life history trait expression with increased resources expected to result in increased investment in reproduction. Here, we test this hypothesis in the Costa Rican livebearing fish Priapichthys annectens by quantifying life history traits and comparing trait values between populations collected during the dry season versus the wet season, periods when resource availability varies. We found that life history traits related to reproductive investment, but not the timing of reproductive events, differed between seasons. During the wet season, female body condition increased, and females invested less in reproduction, having fewer but larger offspring. Irrespective of the season, larger females gave birth to larger offspring. Finally, we found that this species utilizes a lecithotrophic strategy of provisioning eggs with nutrients being deposited in the ova prior to fertilization, and that females only carry one developing brood at a time (no superfetation). This is the first study documenting the life history of P. annectens , and it adds to a growing body of work suggesting that seasonal environmental differences can induce changes in the expression of some—but not all—life history traits. [ABSTRACT FROM AUTHOR]

A key question in plant biology is how oriented cell divisions are integrated with patterning mechanisms to generate organs with adequate cell type allocation. In the root vasculature, a gradient of miRNA165/6 controls the abundance of HD-ZIP III transcription factors, which in turn control cell fate and spatially restrict vascular cell proliferation to specific cells. Here, we show that vascular development requires the presence of ARGONAUTE10, which is thought to sequester miRNA165/6 and protect HD-ZIP III transcripts from degradation. Our results suggest that the miR165/6-AGO10-HDZIP III module acts by buffering cytokinin responses and restricting xylem differentiation. Mutants of AGO10 show faster growth rates and strongly enhanced survival under severe drought conditions. However, this superior performance is offset by markedly increased variation and phenotypic plasticity in sub-optimal carbon supply conditions. Thus, AGO10 is required for the control of formative cell division and coordination of robust cell fate specification of the vasculature, while altering its expression provides a means to adjust phenotypic plasticity. Synopsis: In the Arabidopsis root vascular tissue, a gradient of miRNA165/6 controls the abundance of HD-ZIP III transcription factors, which in turn control cell fate and spatially restrict vascular cell proliferation to specific cells. This work shows that vascular development requires ARGONAUTE10 to sequester miRNA165/6, thus protecting HD-ZIP III transcripts from degradation. AGO10 controls formative cell divisions in the centre of the root stele, with its loss leading to ectopic xylem strands, increased procambial cell number, and enhanced root growth. Consistent with a role in protecting HD-ZIP III transcripts from miRNA165/6-mediated degradation, AGO10 is mostly expressed in the centre of the meristematic stele. AGO10 promotes HD-ZIP III activity to suppress cytokinin responses in the stele. AGO10 mutants outperform the wild type under water-limiting conditions. However, AGO10 is required for phenotypic robustness upon reduced carbon availability. AGO10 sequesters miRNA165/6 to suppress cytokinin-dependent responses in the root apical meristem. [ABSTRACT FROM AUTHOR]

Serpentine soils exhibit extreme properties (e.g. high magnesium content) influencing plant growth and survival, and have been repeatedly documented to promote adaptive edaphic differentiation in plants. Individuals from four pairs of nearby diploid and autotetraploid populations of Biscutella laevigata sampled on serpentine versus non‐serpentine soils in a factorial design are used to assess the genetic and phenotypic changes associated with edaphic origin and ploidy level. Individual samples from natural populations were subjected to soil elemental analysis and genotyping using restriction site‐associated DNA sequences (RAD‐seq) to link genetic variation with contrasting soils and ploidy levels. In diploids, genetic variation was consistent with demographic contraction and a pattern of isolation by environment with respect to the ratio of calcium/magnesium concentrations, whereas tetraploids presented evidence of expansion with limited edaphic differentiation. The genetic basis of tolerance and adaptation to serpentine was further assessed experimentally on seed‐grown individuals from all populations subjected to high (serpentine‐like) versus low (control) concentrations of magnesium in hydropony. Fitness‐related phenotypic traits under experimental cultivation were consistent with adaptive differentiation among diploid ecotypes but not among the tetraploids that similarly grow in both habitats and consistently present higher investment in roots. Further work comparing experimentally resynthesized polyploids to natural diploids and polyploids would help to tease the role of whole genome duplication apart from the effects of post‐polyploidy evolution. [ABSTRACT FROM AUTHOR]

Polyploidy commonly occurs in invasive species, and phenotypic plasticity (PP, the ability to alter one's phenotype in different environments) is predicted to be enhanced in polyploids and to contribute to their invasive success. However, empirical support that increased PP is frequent in polyploids and/or confers invasive success is limited. Here, we investigated if polyploids are more pre‐adapted to become invasive than diploids via the scaling of trait values and PP with ploidy level, and if post‐introduction selection has led to a divergence in trait values and PP responses between native‐ and non‐native cytotypes. We grew diploid, tetraploid (from both native North American and non‐native European ranges), and hexaploid Solidago gigantea in pots outside with low, medium, and high soil nitrogen and phosphorus (NP) amendments, and measured traits related to growth, asexual reproduction, physiology, and insects/pathogen resistance. Overall, we found little evidence to suggest that polyploidy and post‐introduction selection shaped mean trait and PP responses. When we compared diploids to tetraploids (as their introduction into Europe was more likely than hexaploids) we found that tetraploids had greater pathogen resistance, photosynthetic capacities, and water‐use efficiencies and generally performed better under NP enrichments. Furthermore, tetraploids invested more into roots than shoots in low NP and more into shoots than roots in high NP, and this resource strategy is beneficial under variable NP conditions. Lastly, native tetraploids exhibited greater plasticity in biomass accumulation, clonal‐ramet production, and water‐use efficiency. Cumulatively, tetraploid S. gigantea possesses traits that might have predisposed and enabled them to become successful invaders. Our findings highlight that trait expression and invasive species dynamics are nuanced, while also providing insight into the invasion success and cyto‐geographic patterning of S. gigantea that can be broadly applied to other invasive species with polyploid complexes. [ABSTRACT FROM AUTHOR]

Under climate change, ectotherms will likely face pressure to adapt to novel thermal environments by increasing their upper thermal tolerance and its plasticity, a measure of thermal acclimation. Ectotherm populations with high thermal tolerance are often less thermally plastic, a trade‐off hypothesized to result from (i) a phenotypic limit on thermal tolerance above which plasticity cannot further increase the trait, (ii) negative genetic correlation or (iii) fitness trade‐offs between the two traits. Whether each hypothesis causes negative associations between thermal tolerance and plasticity has implications for the evolution of each trait. We empirically tested the limit and trade‐off hypotheses by leveraging the experimental tractability and thermal biology of the intertidal copepod Tigriopus californicus. Using populations from four latitudinally distributed sites in coastal California, six lines per population were reared under a laboratory common garden for two generations. Ninety‐six full sibling replicates (n = 4–5 per line) from a third generation were developmentally conditioned to 21.5 and 16.5°C until adulthood. We then measured the upper thermal tolerance and fecundity of sibships at each temperature. We detected a significant trade‐off in fecundity, a fitness corollary, between baseline thermal tolerance and its plasticity. Tigriopus californicus populations and genotypes with higher thermal tolerance were less thermally plastic. We detected negative directional selection on thermal plasticity under ambient temperature evidenced by reduced fecundity. These fitness costs of plasticity were significantly higher among thermally tolerant genotypes, consistent with the trade‐off hypothesis. This trade‐off was evident under ambient conditions, but not high temperature. Observed thermal plasticity and fecundity were best explained by a model incorporating both the limit and trade‐off hypotheses rather than models with parameters associated with one hypothesis. Effects of population and family on tolerance and plasticity negatively covaried, suggesting that a negative genetic correlation could not be ruled as contributing to negative associations between the traits. Our study provides a novel empirical test of the fitness trade‐off hypothesis that leverages a strong inference approach. We discuss our results' insights into how thermal adaptation may be constrained by physiological limits, genetic correlations, and fitness trade‐offs between thermal tolerance and its plasticity. Read the free Plain Language Summary for this article on the Journal blog. [ABSTRACT FROM AUTHOR]

Predicting climate change‐mediated environmental effects on organisms is difficult because their direction and strength may depend on multiple ecological factors that vary in nature. This is because the effects of environmental factors often interact. One potentially important factor modifying organisms' thermal performance is their resource level.We experimentally examined the dependence of phenotypic responses to heatwaves on resource/food availability in the freshwater snail, Lymnaea stagnalis. We maintained snails at different food levels (unlimited, reduced [50% of expected consumption], no food), and exposed them to either a heatwave temperature (27°C) or a benign temperature (17°C) for 1 week, followed by a post‐heatwave week (17°C). To estimate snail performance, we quantified their metabolic activity (respiration rate), growth rate, fecundity, and immune activity.All examined traits responded to temperature, and changes in fitness‐related traits (growth rate, fecundity) depended on snail resource level. During the heatwave phase, the benefits of the elevated temperature (enhanced growth rate and fecundity) were higher with unlimited than with limited resources. Additionally, during the post‐heatwave phase, the performance of previously heat‐challenged snails reduced most strongly in resource‐limited snails. The high‐temperature treatment negatively affected snail immune activity even under the high food supply, but immune traits recovered after the heatwave. Interestingly, the phenotypic effects of the high temperature were mainly direct rather than driven by increased metabolic activity.Our results indicate that heatwave responses of L. stagnalis snails are sensitive to their resource level. Such condition dependence may have important ecological and evolutionary implications by: (1) making natural populations in low‐quality habitats the most susceptible to heatwaves; and (2) altering climate change‐mediated evolution by modifying the expression of phenotypic variation in thermal performance. By demonstrating condition‐dependent heatwave responses, our study highlights the importance of examining the interactive effects of climate change‐mediated environmental alterations and ecological factors that vary in nature. [ABSTRACT FROM AUTHOR]

Copy number variation is a common contributor to phenotypic diversity, yet its involvement in ecological adaptation is not easily discerned. Instances of parallelly evolving populations of the same species in a similar environment marked by strong selective pressures present opportunities to study the role of copy number variants (CNVs) in adaptation. By identifying CNVs that repeatedly occur in multiple populations of the derived ecotype and are not (or are rarely) present in the populations of the ancestral ecotype, the association of such CNVs with adaptation to the novel environment can be inferred. We used this paradigm to identify CNVs associated with recurrent adaptation of the Mexican tetra (Astyanax mexicanus) to cave environment. Using a read‐depth approach, we detected CNVs from previously re‐sequenced genomes of 44 individuals belonging to two ancestral surfaces and three derived cave populations. We identified 102 genes and 292 genomic regions that repeatedly diverge in copy number between the two ecotypes and occupy 0.8% of the reference genome. Functional analysis revealed their association with processes previously recognized to be relevant for adaptation, such as vision, immunity, oxygen consumption, metabolism, and neural function and we propose that these variants have been selected for in the cave or surface waters. The majority of the ecotype‐divergent CNVs are multiallelic and display copy number increases in cavefish compared to surface fish. Our findings suggest that multiallelic CNVs – including gene duplications – and divergence in copy number provide a fast route to produce novel phenotypes associated with adaptation to subterranean life. [ABSTRACT FROM AUTHOR]

Cronobacter spp. are high acid resistance pathogens classified as Class A pathogens in powdered infant formula. Herein, we investigated the function of Cronobacter luxS in acid response. Results showed that luxS significantly increased the resistance to acid, demonstrating bacterial survival, bacterial morphology and biofilm formation. Furthermore, LuxS might enhance acid response by mediating the up‐regulation of 5‐methyltetrahydropteroyltriglutamate–homocysteine S‐methyltransferase and homocysteine S‐methyltransferase and the down‐regulation of methionine adenosyltransferase in the quorum sensing pathway. Therefore, the quorum sensing pathway mediated by luxS is the key control target for Cronobacter survival in acidic environments. [ABSTRACT FROM AUTHOR]

Selection pressures differ along environmental gradients, and traits tightly linked to fitness (e.g., the visual system) are expected to track such variation. Along gradients, adaptation to local conditions might be due to heritable and nonheritable environmentally induced variation. Disentangling these sources of phenotypic variation requires studying closely related populations in nature and in the laboratory. The Nicaraguan lakes represent an environmental gradient in photic conditions from clear crater lakes to very turbid great lakes. From two old, turbid great lakes, Midas cichlid fish (Amphilophus cf. citrinellus) independently colonized seven isolated crater lakes of varying light conditions, resulting in a small adaptive radiation. We estimated variation in visual sensitivities along this photic gradient by measuring cone opsin gene expression among lake populations. Visual sensitivities observed in all seven derived crater lake populations shifted predictably in direction and magnitude, repeatedly mirroring changes in photic conditions. Comparing wild-caught and laboratory-reared fish revealed that 48% of this phenotypic variation is genetically determined and evolved rapidly. Decreasing intrapopulation variation as environments become spectrally narrower suggests that different selective landscapes operate along the gradient. We conclude that the power to predict phenotypic evolution along gradients depends on both the magnitude of environmental change and the selective landscape shape. [ABSTRACT FROM AUTHOR]