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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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Wheat × Imperata cylindrica‐mediated approach of doubled haploidy breeding requires hand emasculation followed by pollination with I. cylindrica pollen. The pace of this endeavour can be enhanced by utilizing asynchronous flowering of wheat spikes by direct pollination without emasculation followed by morphological marker–assisted screening of selfed and crossed seeds. The emasculated and un‐emasculated spikes of 13 spring and six winter wheat genotypes and two triticale × wheat derivatives were pollinated with I. cylindrica pollen. The response of different genotypes for production of crossed and selfed seeds with direct pollination varied significantly within and between groups for spring and winter wheats, whereas triticale × wheat derivatives responded similarly to each other but significantly different from spring and winter wheats. Although, the proportion of pseudoseed formation was lower in case of direct pollination, yet in some genotypes, it was comparable to that of pollination after emasculation. Moreover, the response for haploid embryo induction frequency was similar in both the cases. The method of direct pollination can be utilized for easy and economical induction of haploids.  相似文献   
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In this study, peste des petits ruminants virus (PPRV) was detected in frozen pooled tissue samples from a dead Asiatic lion (Panthera leo persica). The samples were negative for canine distemper virus and positive for PPRV nucleic acids when tested with one-step RT-PCR using the appropriate virus-specific primers. Subsequent amplification, cloning, and sequencing of the partial nucleocapsid, matrix, and fusion genes confirmed the presence of PPRV nucleic acid. Comparative sequence and phylogenetic analyses of the structural genes of the isolated virus confirmed that the virus belonged to Asian lineage IV and was closely related to PPRV circulating in India.  相似文献   
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Rhizoctonia solani AG1IA is an important fungal pathogen causing significant yield and quality losses in rice production. However, little is known about the levels of genetic diversity and structure of this pathogen in North India. Out of 240 samples collected from different rice-growing regions of North India, 112 isolates were identified as R. solani AG1IA subgroups using species-specific primers. All 112 isolates were organized into four groups on the basis of percent disease index (PDI). The majority of the isolates were weakly virulent. Population genetic analysis was performed within and between populations using inter simple sequence repeat (ISSR) markers. A total of 8249 alleles were identified from the 112 isolates of R. solani AG1IA through analysis of the ten inter simple sequence repeat markers. All the ten ISSR markers were polymorphic. The average number of bands per primer was 7.3 which ranged in size from 250 to 1500 bp. Genetic structure of the isolates using inter simple sequence repeat primers showed high degree of polymorphism (PIC ≥0.81). The analysis of molecular variance (AMOVA) indicated that most of the genetic diversity occurred within populations (60%), while the variability among populations and among regions contributed 25 and 15%, respectively. Overall, the present study reveals that a large variation exists among rice-infecting isolates of R. solani AG1IA in North India. Fingerprinting of the isolates using ISSRs along with phenotypic characterization and virulence analysis will help epidemiological studies that can provide new insights into pathogen biology and disease spread.  相似文献   
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Experiments were conducted to study genetics of fertility restoration and to examine distribution of RAPD markers (OPW19800 and OPP131400) linked with fertility restoration gene (Rf) in pepper (Capsicum annuum L.) inbreds. Forty-two hot and five sweet pepper inbreds were crossed on a cytoplasmic male sterile (cms) line CCA-4261 and F1s were evaluated for fertility restoration under open field conditions. DNA of 5 plants of CCA-4261 and individual plants of 47 inbreds was isolated and PCR reaction was performed using OPW19 and OPP13 primers. The results revealed that most of the hot pepper lines posses Rf gene. The Rf gene associated two markers, viz., OPW19800 and OPP131400 were not frequently distributed in the restorer inbred lines because presence of marker bands often does not coincide with the presence of Rf gene identified in many restorer inbreds. The case specific applications of both the RAPD markers have been described.  相似文献   
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Five species of snow trout (Schizothorax spp.) were investigated for their inherent nutritional value. Proximate composition, total fat, total cholesterol, triglyceride, fatty acids (FAs) profile, and mineral profiles were analyzed. Protein percentage in all five fish was found to be the same (P > 0.05), ranging from 15% to 18%. Moisture (75–82%) and lipid (1.5–8%) values were found to differ prominently (P < 0.05) in an inverse manner. Total fat (%), total cholesterol (mg/100 g), and triglyceride (mg/100 g) contents were found in the range of 2.73–6.54, 21.31–25.76, and 298.89–342.22, respectively. The trend of FAs in decreasing order was saturated > mono-unsaturated > polyunsaturated (n–6 > n–3). The sum of n–6 FAs value was higher than that of n–3, and the major n–6 and n–3 long chain polyunsaturated FAs (PUFAs) were arachidonic acid and docosahexaenoic acid, respectively. In most of these fish, the profile of macrominerals was phosphorus > potassium > calcium > sodium > magnesium, while the trend for microminerals was iron > zinc > copper > manganese. The snow trout species with best contribution potential to the daily requirement of n–3 long chain PUFAs was found in S. esocinus and S. niger, calcium and phosphorus in S. plagiostomus, and iron and copper in S. progastus.  相似文献   
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