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31.
Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case–control study 下载免费PDF全文
32.
Interaction between MTHFR 677C>T and periconceptional folic acid supplementation in the risk of Hypospadias 下载免费PDF全文
33.
Helmut Bäumlein Wout Boerjan Istvan Nagy Reinhard Panitz Dirk Inzé Ulrich Wobus 《Molecular & general genetics : MGG》1991,225(1):121-128
Summary We have previously isolated a legumin gene LeB4 from Vicia faba and shown that a 4.7 kb DNA fragment containing the gene leads to seed-specific expression in transgenic tobacco plants. Here we report that the 2.4 kb upstream sequence alone, when fused to either the neomycin phosphotransferase II (nptII) gene or the -glucuronidase (uidA) gene, leads to high enzyme levels in transgenic seeds of both tobacco and Arabidopsis. -Glucuronidase (GUS) activity is especially intense in the cotyledons fading out towards the embryonal root tip, a result confirmed by in situ hybridization. Staining of endosperm cells is consistent in both species. Analysis of a series of promoter deletion mutants fused to the nptII gene and introduced into tobacco plants revealed that about 1 kb of 5-flanking sequence is sufficient for high-level expression but indirect evidence suggests the presence of weak positive regulatory elements further upstream. Deletions leaving only 0.2 kb of upstream sequence reduce enzyme levels to less than 10%. A deletion which destroys the legumin box with its seed protein gene-specific CATGCATG motif has no obvious effects on expression levels. 相似文献
34.
A novel seed protein gene from Vicia faba is developmentally regulated in transgenic tobacco and Arabidopsis plants 总被引:4,自引:0,他引:4
Helmut B?Umlein Wout Boerjan Istvan Nagy Ronald Bassfüner Marc Montagu Dirk Inzé Ulrich Wobus 《Molecular & general genetics : MGG》1991,225(3):459-467
Summary We have isolated a novel gene, denoted USP, from Vicia faba var. minor, which corresponds to the most abundant mRNA present in cotyledons during early seed development; however, the corresponding protein does not accumulate in cotyledons. The characterized USP gene with its two introns is 1 of about 15 members of a gene family. A fragment comprising 637 bp of 5 flanking sequence and the total 5 untranslated region was shown to be sufficient to drive the mainly seed-specific expression of two reporter genes, coding for neomycin phosphotransferase 11 and -glucuronidase, in transgenic Arabidopsis thaliana and Nicotiana tabacum plants. We showed that the USP promoter becomes active in transgenic tobacco seeds in both the embryo and the endosperm, whereas its activity in Arabidopsis is detectable only in the embryo. Moreover, we demonstrated a transient activity pattern of the USP promoter in root tips of both transgenic host species. 相似文献
35.
A novel lignin in poplar trees with a reduced caffeic acid/5-hydroxyferulic acid O-methyltransferase activity 总被引:9,自引:1,他引:9
Jan Van Doorsselaere Marie Baucher Emmanuelle Chognot Brigitte Chabbert Marie-Thérèse Tollier Michel Petit-Conil Jean-Charles Leplé Gilles Pilate Daniel Cornu Bernard Monties Marc Van Montagu Dirk Inzé Wout Boerjan Lise Jouanin 《The Plant journal : for cell and molecular biology》1995,8(6):855-864
Lignin is a polymeric constituent of the cell wall that needs to be removed during the paper making process. Bi-specific caffeic acid/5-hydroxyferulic acid O-methyltransferase (COMT) catalyses the O-methylation of caffeic acid and 5-hydroxyferulic acid to ferulic acid and sinapic acid, respectively. These compounds are intermediates in the biosynthesis of the lignin precursors. Therefore, COMTs are potential target enzymes for reducing the amount, or modifying the composition, of lignin in plants. Different antisense and sense constructs have been expressed of a gene encoding a COMT from poplar (Populus trichocarpa x P. deltoides) in a P. tremula x P. alba clone under the control of the cauliflower mosaic virus 35S promoter. From all analysed transformants, four lines transformed with an antisense construct had a reduced COMT activity. Two showed a 50% reduction of COMT activity, which altered only slightly the monomeric composition. In the two other transformants, the COMT activity was reduced by 95%. In the latter case, the syringyl/ guaiacyl ratio (S/G) was reduced by sixfold (due to a decrease of S and an increase of G), as analysed by thioacidolysis. A new component of lignin, the 5-hydroxyguaiacyl residue, was detected among the thioacidolysis products. Moreover, in contrast to the white/yellow colour of wild-type wood, the xylem of the transgenic lines with a 95% reduction of COMT activity was pale rose. A similar phenotype was observed in brown-midrib mutants of maize and sorghum, known for their altered lignification. Although the lignin composition was consistently modified, the lignin content of the transgenic poplars was similar to that of the controls. 相似文献
36.
C. Deerenberg G. J. F. Overkamp G. H. Visser S. Daan 《Journal of comparative physiology. B, Biochemical, systemic, and environmental physiology》1998,168(7):507-512
To study zebra finch allocation of energy to day and night at two different workloads, we assessed the daily energy turnover
from: (1) metabolizable energy of the food, and (2) doubly-labeled water. In both experiments we imposed two levels of activity
on captive zebra finches (Taeniopygia guttata), by applying different computer-controlled workload schedules. A low workload required 20 hops, and a high workload 40 hops
to obtain 10 s access to food. In experiment 1, we further measured nocturnal energy expenditure by overnight oxygen consumption.
From experiment 2 we derived an estimate of the costs of hopping activity, from inter-individual association of daily amount
of hopping and daily energy expenditure. Surprisingly, the daily energy budget was, on average, reduced slightly when birds
were subjected to a high workload. Since hopping activity was 50% higher during the high workload than during the low workload,
the birds apparently compensated, even over-compensated, for the increased energetic demands of activity. Nocturnal energy
expenditure was indeed reduced for the high workload, which was largely due to a reduction in resting metabolic rate. Economizing
on energy was more than could have been accomplished by a reduction in mass alone, and we discuss the occurrence and potential
mechanisms of physiological compensation. The amount of energy saved during the night did account for part of the total amount
of energy saved. We surmise that the strategy of energetic compensation observed during the night was extended into the inactive
hours of the day.
Accepted: 10 July 1998 相似文献
37.
Background
An increasing body of evidence suggests that the apparent social impairments observed in schizophrenia may arise from deficits in social cognitive processing capacities. The ability to process basic social cues, such as gaze direction and biological motion, effortlessly and implicitly is thought to be a prerequisite for establishing successful social interactions and for construing a sense of “social intuition.” However, studies that address the ability to effortlessly process basic social cues in schizophrenia are lacking. Because social cognitive processing deficits may be part of the genetic vulnerability for schizophrenia, we also investigated two groups that have been shown to be at increased risk of developing schizophrenia-spectrum pathology: first-degree relatives of schizophrenia patients and men with Klinefelter syndrome (47,XXY).Results
We compared 28 patients with schizophrenia, 29 siblings of patients with schizophrenia, and 29 individuals with Klinefelter syndrome with 46 matched healthy control subjects on a new paradigm. This paradigm measures one''s susceptibility for a bias in distance estimation between two agents that is induced by the implicit processing of gaze direction and biological motion conveyed by these agents. Compared to control subjects, patients with schizophrenia, as well as siblings of patients and Klinefelter men, showed a lack of influence of social cues on their distance judgments.Conclusions
We suggest that the insensitivity for social cues is a cognitive aspect of schizophrenia that may be seen as an endophenotype as it appears to be present both in relatives who are at increased genetic risk and in a genetic disorder at risk for schizophrenia-spectrum psychopathology. These social cue–processing deficits could contribute, in part, to the difficulties in higher order social cognitive tasks and, hence, to decreased social competence that has been observed in these groups. 相似文献38.
Bakker BM Overkamp KM van Maris AJ Kötter P Luttik MA van Dijken JP Pronk JT 《FEMS microbiology reviews》2001,25(1):15-37
In Saccharomyces cerevisiae, reduction of NAD(+) to NADH occurs in dissimilatory as well as in assimilatory reactions. This review discusses mechanisms for reoxidation of NADH in this yeast, with special emphasis on the metabolic compartmentation that occurs as a consequence of the impermeability of the mitochondrial inner membrane for NADH and NAD(+). At least five mechanisms of NADH reoxidation exist in S. cerevisiae. These are: (1) alcoholic fermentation; (2) glycerol production; (3) respiration of cytosolic NADH via external mitochondrial NADH dehydrogenases; (4) respiration of cytosolic NADH via the glycerol-3-phosphate shuttle; and (5) oxidation of intramitochondrial NADH via a mitochondrial 'internal' NADH dehydrogenase. Furthermore, in vivo evidence indicates that NADH redox equivalents can be shuttled across the mitochondrial inner membrane by an ethanol-acetaldehyde shuttle. Several other redox-shuttle mechanisms might occur in S. cerevisiae, including a malate-oxaloacetate shuttle, a malate-aspartate shuttle and a malate-pyruvate shuttle. Although key enzymes and transporters for these shuttles are present, there is as yet no consistent evidence for their in vivo activity. Activity of several other shuttles, including the malate-citrate and fatty acid shuttles, can be ruled out based on the absence of key enzymes or transporters. Quantitative physiological analysis of defined mutants has been important in identifying several parallel pathways for reoxidation of cytosolic and intramitochondrial NADH. The major challenge that lies ahead is to elucidate the physiological function of parallel pathways for NADH oxidation in wild-type cells, both under steady-state and transient-state conditions. This requires the development of techniques for accurate measurement of intracellular metabolite concentrations in separate metabolic compartments. 相似文献
39.
Bol SM Moerland PD Limou S van Remmerden Y Coulonges C van Manen D Herbeck JT Fellay J Sieberer M Sietzema JG van 't Slot R Martinson J Zagury JF Schuitemaker H van 't Wout AB 《PloS one》2011,6(2):e17190
Background
HIV-1 infected macrophages play an important role in rendering resting T cells permissive for infection, in spreading HIV-1 to T cells, and in the pathogenesis of AIDS dementia. During highly active anti-retroviral treatment (HAART), macrophages keep producing virus because tissue penetration of antiretrovirals is suboptimal and the efficacy of some is reduced. Thus, to cure HIV-1 infection with antiretrovirals we will also need to efficiently inhibit viral replication in macrophages. The majority of the current drugs block the action of viral enzymes, whereas there is an abundance of yet unidentified host factors that could be targeted. We here present results from a genome-wide association study identifying novel genetic polymorphisms that affect in vitro HIV-1 replication in macrophages.Methodology/Principal Findings
Monocyte-derived macrophages from 393 blood donors were infected with HIV-1 and viral replication was determined using Gag p24 antigen levels. Genomic DNA from individuals with macrophages that had relatively low (n = 96) or high (n = 96) p24 production was used for SNP genotyping with the Illumina 610 Quad beadchip. A total of 494,656 SNPs that passed quality control were tested for association with HIV-1 replication in macrophages, using linear regression. We found a strong association between in vitro HIV-1 replication in monocyte-derived macrophages and SNP rs12483205 in DYRK1A (p = 2.16×10−5). While the association was not genome-wide significant (p<1×10−7), we could replicate this association using monocyte-derived macrophages from an independent group of 31 individuals (p = 0.0034). Combined analysis of the initial and replication cohort increased the strength of the association (p = 4.84×10−6). In addition, we found this SNP to be associated with HIV-1 disease progression in vivo in two independent cohort studies (p = 0.035 and p = 0.0048).Conclusions/Significance
These findings suggest that the kinase DYRK1A is involved in the replication of HIV-1, in vitro in macrophages as well as in vivo. 相似文献40.
Susan C Burleigh Teun van de Laar Corné JM Stroop Wout MJ van Grunsven Niaobh O’Donoghue Pauline M Rudd Gavin P Davey 《BMC biotechnology》2011,11(1):1-17