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81.
Sonja Buyle Edwin Reyniers Lieve Vits Kristel De Boulle Ingrid Handig Floris L. E. Wuyts Wout Deelen Dicky J. J. Halley Ben A. Oostra Patrick J. Willems 《Human genetics》1993,92(3):269-272
For many years, the high prevalence of the fragile X syndrome was thought to be caused by a high mutation frequency. The recent isolation of the FMR1 gene and identification of the most prevalent mutation enable a more precise study of the fragile X mutation. As the vast majority of fragile X patients show amplification of an unstable trinucleotide repeat, DNA studies can now trace back the origin of the fragile X mutation. To date, de novo mutations leading to amplification of the CGG repeat have not yet been detected. Recently, linkage disequilibrium was found in the Australian and US populations between the fragile X mutation and adjacent polymorphic markers, suggesting a founder effect of the fragile X mutation. We present here a molecular study of Belgian and Dutch fragile X families. No de novo mutations could be found in 54 of these families. Moreover, we found significant (P < 0.0001) linkage disequilibrium in 68 unrelated fragile X patients between the fragile X mutation and an adjacent polymorphic microsatellite at DXS548. This suggests that a founder effect of the fragile X mutation also exists in the Belgian and Dutch populations. Both the absence of new mutations and the presence of linkage disequilibrium suggest that a few ancestral mutations are responsible for most of the patients with fragile X syndrome. 相似文献
82.
Jennifer D. Watts Mary Farina John S. Kimball Luke D. Schiferl Zhihua Liu Kyle A. Arndt Donatella Zona Ashley Ballantyne Eugénie S. Euskirchen Frans-Jan W. Parmentier Manuel Helbig Oliver Sonnentag Torbern Tagesson Janne Rinne Hiroki Ikawa Masahito Ueyama Hideki Kobayashi Torsten Sachs Daniel F. Nadeau John Kochendorfer Marcin Jackowicz-Korczynski Anna Virkkala Mika Aurela Roisin Commane Brendan Byrne Leah Birch Matthew S. Johnson Nima Madani Brendan Rogers Jinyang Du Arthur Endsley Kathleen Savage Ben Poulter Zhen Zhang Lori M. Bruhwiler Charles E. Miller Scott Goetz Walter C. Oechel 《Global Change Biology》2023,29(7):1870-1889
Arctic-boreal landscapes are experiencing profound warming, along with changes in ecosystem moisture status and disturbance from fire. This region is of global importance in terms of carbon feedbacks to climate, yet the sign (sink or source) and magnitude of the Arctic-boreal carbon budget within recent years remains highly uncertain. Here, we provide new estimates of recent (2003–2015) vegetation gross primary productivity (GPP), ecosystem respiration (Reco), net ecosystem CO2 exchange (NEE; Reco − GPP), and terrestrial methane (CH4) emissions for the Arctic-boreal zone using a satellite data-driven process-model for northern ecosystems (TCFM-Arctic), calibrated and evaluated using measurements from >60 tower eddy covariance (EC) sites. We used TCFM-Arctic to obtain daily 1-km2 flux estimates and annual carbon budgets for the pan-Arctic-boreal region. Across the domain, the model indicated an overall average NEE sink of −850 Tg CO2-C year−1. Eurasian boreal zones, especially those in Siberia, contributed to a majority of the net sink. In contrast, the tundra biome was relatively carbon neutral (ranging from small sink to source). Regional CH4 emissions from tundra and boreal wetlands (not accounting for aquatic CH4) were estimated at 35 Tg CH4-C year−1. Accounting for additional emissions from open water aquatic bodies and from fire, using available estimates from the literature, reduced the total regional NEE sink by 21% and shifted many far northern tundra landscapes, and some boreal forests, to a net carbon source. This assessment, based on in situ observations and models, improves our understanding of the high-latitude carbon status and also indicates a continued need for integrated site-to-regional assessments to monitor the vulnerability of these ecosystems to climate change. 相似文献
83.
Ben Qin 《Journal of evolutionary biology》2023,36(2):347-354
Unequal breeding sex ratio can significantly reduce effective population size, allowing a rare neutral allele to jump to a high frequency through genetic drift. However, this one-way alteration to allele frequency appears inconsistent with the concept that drift is non-directional. Based on binomial sampling distribution, this study developed a method to directly and exhaustively measure drift by calculating the mean deviation of change in allele frequency, then applied it to cases of unequal breeding sex ratio. The result shows that, under those cases, (1) the mean deviation can always be divided into two halves that are equal in size but opposite in direction; (2) each half consists of one or several categories represented by various allele proportions in the rare sex; (3) this proportion is another factor that determines the outcome of drift, in addition to effective population size and allele frequency; (4) drift is non-directional on a global scale, but whether an allele will drift up or down can be predicted based on the above factors. This method enables us to dissect every component of the expected change in allele frequency caused by drift and to find out the combined effect of population size, allele frequency and allele proportion in the rarer sex under neutrality but unequal breeding sex ratio. 相似文献
84.
Sally Badawi Feda E. Mohamed Divya Saro Varghese Bassam R. Ali 《Traffic (Copenhagen, Denmark)》2023,24(8):312-333
Endoplasmic reticulum-associated protein degradation (ERAD) is a stringent quality control mechanism through which misfolded, unassembled and some native proteins are targeted for degradation to maintain appropriate cellular and organelle homeostasis. Several in vitro and in vivo ERAD-related studies have provided mechanistic insights into ERAD pathway activation and its consequent events; however, a majority of these have investigated the effect of ERAD substrates and their consequent diseases affecting the degradation process. In this review, we present all reported human single-gene disorders caused by genetic variation in genes that encode ERAD components rather than their substrates. Additionally, after extensive literature survey, we present various genetically manipulated higher cellular and mammalian animal models that lack specific components involved in various stages of the ERAD pathway. 相似文献
85.
Mammalian Genome - Type 2 diabetes (T2D) is a metabolic disease with an imbalance in blood glucose concentration. There are significant studies currently showing association between T2D and... 相似文献
86.
Mohamed Ali Chokri Foued Hamza Chaker Bennour Mohammed Almalki Aurélien Besnard 《Ibis》2023,165(1):96-110
Predation is one of the key factors shaping the dynamics of animal populations. In birds, nest loss due to predation can be a significant cause of low reproductive success. Ground-nesting birds are among the bird groups most susceptible to predation, mainly because their nests are easily accessible to a broad suite of potential predators. For these birds, anthropogenic disturbances can generate changes in nest predation risk by altering their antipredator behaviour and also by altering the behaviour of the predator species, i.e. the predator becoming much more aware of predation opportunities due to frequent disturbances and/or motivated to repeat predation attempts when some are successful. To date, most previous studies investigating this have focused on a single effect, either predation or disturbance, on chick survival. It remains unknown how the risk of predation with and without disturbance varies with chick age. In this study, we used behavioural observations to assess how the interaction between predators and disturbance affects predation risk in chicks and how this interacts with chick age. Specifically, we investigated the effect of disturbance caused by humans and stray dogs on the predation of Slender-billed Gull Chroicocephalus genei chicks by Yellow-legged Gulls Larus michahellis, and whether this depended on the age of the chicks. Our results revealed that disturbance had a significant positive effect on predation measures of Slender-billed Gull chicks by Yellow-legged Gulls, but that this effect was mediated both by disturbance type and the age of chicks. Stray dogs entering the colony had a stronger disturbance effect on chicks than passing humans, increasing predation risk by Yellow-legged Gulls. Our results also showed that chick age interacts with disturbance type to determine the predation risk. This is probably mediated by chicks' capacity to escape predation by gathering in a single large crèche that runs into the water when disturbed. To preserve Slender-billed Gull colonies in one of its few remaining breeding sites in Tunisia, and as gulls tend to react even when the disturbance occurs relatively far from the colonies, it is crucial to (1) restrict human access to dikes and islets where large colonies breed and (2) construct artificial islets attractive to gulls and inaccessible to stray dogs. 相似文献
87.
Droughts are linked to tree die-offs in the biodiverse humid tropics. We assessed drought response of a Dipterocarp Forest and found a marginal decrease in tree survival, indicating drought resistance. Understory and emergent species were sensitive to drought. Urgent focus is needed to understand drought impacts and plant physiological responses in South Asian forests. 相似文献
88.
Tahsin Shoala Basma H. Amin Ismail A. S. Rashid Fayz A. Abdel-Rahman Mohamed E. Khalil Khamis Youssef 《Phyton》2023,92(4):1139-1152
Production of peaches (Prunus persica (L.) Batsch) for both local market and export is increasing each year in
Egypt. Brown rot disease, caused by Monilinia laxa and Monilinia fructigena, is considered one of the most
important postharvest rots affecting peaches in Egypt and economic losses are increasing. Antifungal activity
of glycyrrhizic acid nanoparticles (GA-NPs) and glycyrrhizic acid (GA) at 0.2 and 0.4 mmol/L was investigated
as a control for both these brown rot pathogens on peach fruits in both in vitro and in vivo studies. In the in vitro
studies, GA-NPs were the most effective as shown by the ability to decrease linear growth of both brown rot
pathogens in potato dextrose agar (PDA) amended with 0.4 mmol/L GA-NPs. Micrographs of M. fructigena
exposed to 0.4 mmol/LGA showed mycelial deformations, nodule formation, detachment of the cell wall, shrinkage and inhomogeneous cytoplasmic materials with large vacuoles. Mycelium of M. laxa exposed to 0.4 mmol/
LGA-NPs resulted in thinner and distorted hyphae, nodule formation, cell wall thinning, and swellings. The GANPs and GA treatments improved fruit quality by maintaining firmness and total soluble solids (TSS). GA-NPs
were more effective in decreasing decay incidence than their bulk material. The 0.4 mmol/L GA-NPs completely
inhibited the disease on naturally infected peach fruits for both seasons of 2018 and 2019. Furthermore,
0.4 mmol/L GA-NPs reduced the disease incidence in inoculated fruits by 95 (M. laxa) and 88% (M. fructigena)
in 2018 season and 96 (M. laxa) and 85% (M. fructigena) in 2019 season. In conclusion, GA-NPs could enhance
the resistance of peaches against brown rot caused by M. laxa and M. fructigena. 相似文献
89.
Lucia Pitzurra Manuela Puliti Mohamed Ali Burhan Fuad Francesco Bistoni Elisabetta Blasi 《FEMS immunology and medical microbiology》1993,7(4):289-295
Abstract The present study was designed to establish the susceptibility of macrophage-mediated effector functions to tetanus toxin (TT). Using the murine macrophage cell line, GG2EE, generated in vitro by v- raf /v- myc oncogenes, we have previously provided evidence that TT selectively inhibits interferon gamma (IFN-γ), but not basal, lysozyme activity. Here we show that while neither phagocytic nor candidacidal activities are affected by TT treatment, antitumoral activity is significantly impaired after exposure to TT. This phenomenon, which is dose-dependent, is fully ascribed to the holotoxin, as heat inactivated TT, C or A-B fragments result ineffective. Furthermore, C but not A-B fragment competes with TT in abrogating its inhibitory effects. Overall, these data indicate that TT is not a broad-spectrum, down-regulating signal on macrophage-mediated functions, thus implying that its toxic action is exerted on specific molecular targets. 相似文献
90.
Eya Khemis Mayssa Ben Mustapha Ikbel Chaieb Roberta Ascrizzi Guido Flamini Abdel Halim Harrath Hichem Ben Jannet Afifa Zardi-Bergaoui 《化学与生物多样性》2023,20(2):e202200646
Due to the several side effects of synthetic pesticides, including environmental pollution, threats to human health, and the development of pest resistance to insecticides, the use of alternative healthy, available and efficient agents in pest management strategies is necessary. Recently, the use of essential oil obtained from aromatic plants has shown significant potential for insect pest management. For this reason, the essential oil isolated from seeds of Thapsia garganica L. was investigated for the first time for its chemical profile, and its toxicity and repellency effects against Tribolium castaneum adults. Qualitative and quantitative analyses of the chemical composition by gas chromatography coupled to mass spectrometry (GC/MS) revealed the presence of 18 organic volatiles representing 96.8 % of the total constituents. The main compounds were 1,4-dimethylazulene (51.3 %) followed by methyl palmitate (8.2 %), methyl linoleate (6.2 %) and costol (5.1 %). Concerning the repellent effect, results revealed that SEO (Seed Essential Oil) was very repellent towards T. castaneum adults, with 100 % repellency after 2 h of exposure. Furthermore, the essential oil exhibited remarkable contact toxicity against T. castaneum (93.3 % of mortality) at the concentration of 10 % (v/v). The median lethal dose (LD50) of the topical application of the seed essential oil was 4.4 %. These encouraging outcomes suggested that the essential oil from T. garganica seeds could be considered a potent natural alternative to residual persistent and toxic insecticides. 相似文献