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TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis   总被引:1,自引:0,他引:1  
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disorder characterized pathologically by ubiquitinated TAR DNA binding protein (TDP-43) inclusions. The function of TDP-43 in the nervous system is uncertain, and a mechanistic role in neurodegeneration remains speculative. We identified neighboring mutations in a highly conserved region of TARDBP in sporadic and familial ALS cases. TARDBPM337V segregated with disease within one kindred and a genome-wide scan confirmed that linkage was restricted to chromosome 1p36, which contains the TARDBP locus. Mutant forms of TDP-43 fragmented in vitro more readily than wild type and, in vivo, caused neural apoptosis and developmental delay in the chick embryo. Our evidence suggests a pathophysiological link between TDP-43 and ALS.  相似文献   
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Diamino derivatives of thiadiazole namely, 2,5-diamino-1,3,4-thiadiazole and 3,5-diamino-1,2,4-thiadiazole were synthesized and characterized. Polyamides were synthesized by condensation of the two diamino derivatives with diacide chlorides. The structures of polyamides were verified by elemental analysis, FTIR, 1H-NMR, 13C-NMR and mass spectroscopy. The polyamides possess good solubility in aprotic organic solvents such as DMF, DMAC, DMSO and NMP at room temperature. Intrinsic viscosity measurements indicate that the polyamides synthesized have moderate molecular weights. The thermal stability of these polyamides in nitrogen atmosphere is relatively good, especially for those polyamides containing phenylene ring in the backbone. Compared to the structurally related Kevlar aramide, using 2,5-diamino-1,3,4-thiadiazole and 3,5-diamino-1,2,4-thiadiazole instead of p-phenylene diamine results in reducing the melting points of polyamides to below 350 °C.  相似文献   
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Improving wheat productivity in drylands largely depends on how plants manage limited water resources. Using fraction of transpirable soil water threshold (FTSWTh) and drought stress response function, we characterized the water conservation traits of two wheat multiple synthetic derivative lines (MSD53 and MSD345) which both contain introgressed segments from Aegilops tauschii but differ in drought resilience. The lines and their backcross parent, ‘Norin 61’, were subjected to dry-down conditions. MSD53 had a higher FTSWTh for transpiration decrease than ‘Norin 61’ and MSD345. In terms of drought stress response function, MSD53 had the lowest threshold suction, suggesting a lower drought resilience capacity compared with MSD345. However, MSD53 exhibited an effective-water-use trait whereas MSD345 exhibited a water-saving trait under dry-down conditions. These results are consistent with the reported higher yield of MSD53 in comparison with MSD345 under drought stress in Sudan, and demonstrate that high FTSWTh supports effective water use for improved agricultural productivity in drylands. The differences in water conservation traits between the two MSD lines may be attributed to variation in introgressed segments, which can be further explored for drought resilience breeding.  相似文献   
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Flowering time is the most critical developmental stage in wheat, as it determines environmental conditions during grain filling. Thirty-five spring durum genotypes carrying all known allele variants at Ppd-1 loci were evaluated in fully irrigated field experiments for three years at latitudes of 41°N (Spain), 27°N (northern Mexico) and 19°N (southern Mexico). Relationships between weight of central grains of main spikes (W) and thermal time from flowering to maturity were described by a logistic equation. Differences in flowering time between the allele combination causing the earliest (GS100/Ppd-B1a) and the latest (Ppd-A1b/Ppd-B1a) flowering were 7, 20 and 18 days in Spain, northern Mexico and southern Mexico, respectively. Flowering delay drastically reduced the mean grain filling rate (R) and W at all sites. At autumn-sowing sites, an increase of 1°C in mean temperature during the first half of the grain filling period decreased W by 5.2 mg per grain. At these sites, W was strongly dependent on R. At the spring-sowing site (southern Mexico), W depended on both R and grain filling duration. Our results suggest that incorporating the allele combinations GS100/Ppd-B1a and GS105/Ppd-B1a (alleles conferring photoperiod insensitivity) in newly released varieties can reduce the negative effects of climate change on grain filling at the studied latitudes.  相似文献   
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Changes in the relative genetic performance of genotypes across environments are referred to as genotype × environment interactions (GEIs). GEIs can affect barley breeding improvement for salt tolerance because it often complicates the evaluation and selection of superior genotypes. The present study evaluated the GEIs over 60 barley genotypes for yield components and grain yield in six salinity environments in North Delta, Egypt. Data were analyzed using the additive main effects and multiplicative interaction (AMMI) and Tai’s stability parameters. GEIs effects on yield explained 20.3, 20.1, 14.6, and 33.0% of the total variation besides, the first two principal components account for 67.3, 56.3, 64.3, and 83.7% of the explained variance in the four sets, respectively. Six genotypes namely G-4, G-7, G-20, G-34, G-36, and G-39 were found to be most stable and high yielding across environments (GY >2.00 t ha-1), and located close to zero projection onto the AEC ordinate. Tai’s stability parameters demonstrated that these genotypes were more responsive to the environmental changes. The genotypes G-50 and G-53 showed perfect/static stability (α = -0.95, -0.91, respectively). In contrast, the genotype; G-36 had α = 0 and λ = 1.10, indicating parallel with the environmental effects followed by G-44. Overall, we found that GEIs for grain yield are highly significant in all sets, suggesting that responded differently across environments. This interaction may be a result of changes in genotypes’ relative performance across environments, due to their differential responses to various abiotic factors.  相似文献   
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Water scarcity is threatening the sustainability of global food grain production systems. Devising management strategies and identification of crop species and genotypes are direly required to meet the global food demands with limited supply. This study, consisted of two independent experiments, was conducted to compare faba bean (Vicia faba L.) genotypes Giza Blanka, Goff‐1, Hassawi‐1, Hassawi‐2 and Gazira‐2 in terms of physiological attributes and yield under water‐limited environments. In first experiment, conducted in a growth chamber, osmotic stress of ?0.78, ?0.96, ?1.19 and ?1.65 MPa was induced using polyethylene glycol for 4 weeks. In second experiment, conducted in open field for two consecutive growing seasons, water deficit treatments were applied 3 weeks after sowing. In this experiment, irrigation was applied when an amount of evaporated water from the ‘class A pan’ evaporation reached 50 mm (well watered), 100 mm (moderate drought) and 150 mm (severe drought). Water deficit, applied in terms of osmotic stress or drought, reduced the root and shoot length, related leaf water contents, total chlorophyll contents and efficiency of photosystem‐II, plant height, grain yield and related attributes in faba bean; increased the leaf free proline, leaf soluble proteins and malondialdehyde contents, and triggered the maturity in tested faba bean genotypes. However, substantial genetic variation was observed in the tested genotypes in this regard. For instance, root length of genotypes Giza Blanka and Hassawi‐2 decreased gradually, whereas it was increased in genotypes Goff‐1, Hassawi‐1 and Gazira‐2 with increase in the level of osmotic stress. Genotypes Gazira‐2 and Hassawi‐2 had better relative leaf water contents, leaf free proline and soluble proteins under water deficit conditions; however, these were minimum in genotype Giza Blanka. Better accumulation of leaf free proline, soluble proteins, and maintenance of chlorophyll contents, tissue water, efficiency of photosystem‐II and grain weight in water‐limited conditions helped some genotypes like Hassawi‐2 to yield better. Future breeding programs for developing new faba bean genotypes for water‐limited environments may consider these traits.  相似文献   
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