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71.
Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia 总被引:1,自引:0,他引:1
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Dam AH Koscinski I Kremer JA Moutou C Jaeger AS Oudakker AR Tournaye H Charlet N Lagier-Tourenne C van Bokhoven H Viville S 《American journal of human genetics》2007,81(4):813-820
Globozoospermia is a rare (incidence <0.1% in male infertile patients) form of teratozoospermia, mainly characterized by round-headed spermatozoa that lack an acrosome. It originates from a disturbed spermiogenesis, which is expected to be induced by a genetic factor. Several family cases and recessive mouse models with the same phenotype support this expectation. In this study, we present a consanguineous family with three affected brothers, in whom we have identified a homozygous mutation in the spermatogenesis-specific gene SPATA16. This is the first example of a nonsyndromic male infertility condition in humans caused by an autosomal gene defect, and it could also mean that the identification of other partners like SPATA16 could elucidate acrosome formation. 相似文献
72.
Operon prediction in Pyrococcus furiosus 总被引:1,自引:0,他引:1
Identification of operons in the hyperthermophilic archaeon Pyrococcus furiosus represents an important step to understanding the regulatory mechanisms that enable the organism to adapt and thrive in extreme environments. We have predicted operons in P.furiosus by combining the results from three existing algorithms using a neural network (NN). These algorithms use intergenic distances, phylogenetic profiles, functional categories and gene-order conservation in their operon prediction. Our method takes as inputs the confidence scores of the three programs, and outputs a prediction of whether adjacent genes on the same strand belong to the same operon. In addition, we have applied Gene Ontology (GO) and KEGG pathway information to improve the accuracy of our algorithm. The parameters of this NN predictor are trained on a subset of all experimentally verified operon gene pairs of Bacillus subtilis. It subsequently achieved 86.5% prediction accuracy when applied to a subset of gene pairs for Escherichia coli, which is substantially better than any of the three prediction programs. Using this new algorithm, we predicted 470 operons in the P.furiosus genome. Of these, 349 were validated using DNA microarray data. 相似文献
73.
The maize floury1 gene encodes a novel endoplasmic reticulum protein involved in zein protein body formation 总被引:4,自引:1,他引:3
Holding DR Otegui MS Li B Meeley RB Dam T Hunter BG Jung R Larkins BA 《The Plant cell》2007,19(8):2569-2582
The maize (Zea mays) floury1 (fl1) mutant was first reported almost 100 years ago, but its molecular identity has remained unknown. We report the cloning of Fl1, which encodes a novel zein protein body membrane protein with three predicted transmembrane domains and a C-terminal plant-specific domain of unknown function (DUF593). In wild-type endosperm, the FL1 protein accumulates at a high level during the period of zein synthesis and protein body development and declines to a low level at kernel maturity. Immunogold labeling showed that FL1 resides in the endoplasmic reticulum surrounding the protein body. Zein protein bodies in fl1 mutants are of normal size, shape, and abundance. However, mutant protein bodies ectopically accumulate 22-kD alpha-zeins in the gamma-zein-rich periphery and center of the core, rather than their normal discrete location in a ring at outer edge of the core. The 19-kD alpha-zein is uniformly distributed throughout the core in wild-type protein bodies, and this distribution is unaffected in fl1 mutants. Pairwise yeast two-hybrid experiments showed that FL1 DUF593 interacts with the 22-kD alpha-zein. Results of these studies suggest that FL1 participates in protein body formation by facilitating the localization of 22-kD alpha-zein and that this is essential for the formation of vitreous endosperm. 相似文献
74.
A simulation model for nitrogen retention in a papyrus wetland near Lake Victoria,Uganda (East Africa) 总被引:1,自引:0,他引:1
A. A. van Dam A. Dardona P. Kelderman F. Kansiime 《Wetlands Ecology and Management》2007,15(6):469-480
Papyrus wetlands around Lake Victoria, East Africa play an important role in the nutrient flows from the catchment to the
lake. A dynamic model for nitrogen cycling was constructed to understand the processes contributing to nitrogen retention
in the wetland and to evaluate the effects of papyrus harvesting on the nitrogen absorption capacity of the wetlands. The
model had four layers: papyrus mat, water, sludge and sediment. Papyrus growth was modelled as the difference between nitrogen
uptake and loss. Nitrogen uptake was modelled with a logistic equation combined with a Monod-type nitrogen limitation. Nitrogen
compartments were papyrus plants, organic material in the floating mat; and total ammonia, nitrate and organic nitrogen in
the water, sludge and sediment. Apart from the uptake and decay rates of the papyrus, the model included sloughing and settling
of mat material into the water, mineralization of organic matter, and nitrification and diffusion of dissolved inorganic nitrogen.
Literature data and field measurements were used for parameterization. The model was calibrated with data from Kirinya wetland
in Jinja, Uganda which receives effluent from a municipal wastewater treatment plant. The model simulated realistic concentrations
of dissolved nitrogen with a stable biomass density of papyrus and predicted accumulation of organic sludge in the wetland.
Assuming that this sludge is not washed out of the wetland, the overall nitrogen retention of the wetland over a three-year
period was 21.5 g N m−2 year−1 or about 25% of input. Harvesting 10, 20 and 30% of the papyrus biomass per year increased nitrogen retention capacity of
the wetland to 32.3, 36.8 and 38.1 g m−2 year−1, respectively. Although the nutrient flows estimated by the model are within the ranges found in other papyrus wetlands,
the model could be improved with regard to the dynamics of detrital nitrogen. Actual net retention of nitrogen in the sludge
is likely to be lower than 21.5 g N m−2 year−1 because of flushing out of the sludge to the lake during the rainy season. 相似文献
75.
Analysis of Pathogenic Diversity of the Rice Bacterial Blight Pathogen (Xanthomonas oryzae pv. oryzae) in the Andaman Islands and Identification of Effective Resistance Genes
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Raj K. Gautam Pankaj K. Singh Krishnan Sakthivel Muthulingam Srikumar Naresh Kumar Krishna Kumar Awnindra K. Singh Sibnarayan Dam Roy 《Journal of Phytopathology》2015,163(6):423-432
Bacterial blight (BB) caused by Xanthomonas oryzae pv. oryzae (Xoo) is a major disease of rice in the tropics for which genetic resistance in the host plants is the only effective solution. This study aimed at identification of resistance gene combinations effective against Xoo isolates and fingerprinting of the Xoo isolates of Andaman Islands (India). Here, we report the reaction of 21 rice BB differentials possessing Xa1 to Xa21 genes individually and in different combinations to various isolates of pathogen collected from Andaman Islands. Pathological screening results of 14 isolates revealed that among individual genes tested across 2 years, Xa4, Xa7 and Xa21 conferred resistance reaction across all isolates, whereas among combinations, IRBB 50 (Xa4 + xa5), IRBB 52 (Xa4 + Xa21) and IRBB 60 (Xa4 + xa5 + xa13 + Xa21) conveyed effective resistance against tested isolates. The nature of genetic diversity among four isolates selected on the basis of geographical isolation in the islands was studied through DNA finger printing. The RAPD primers S111, S119, S1117, S1109, S1103, S109 and S105 were found to be better indicators of molecular diversity among isolates than JEL primers. The diversity analysis grouped 14 isolates into three major clusters based on disease reaction wherein isolate no. 8 was found the most divergent as well as highly virulent. The remaining isolates were classified into two distinct groups. The importance of the study in the context of transfer of resistance gene(s) in the local cultivars specifically for tropical island conditions is presented and discussed. 相似文献
76.
The relationship between cellular metabolism and the cell cycle machinery is by no means unidirectional. The ability of a cell to enter the cell cycle critically depends on the availability of metabolites. Conversely, the cell cycle machinery commits to regulating metabolic networks in order to support cell survival and proliferation. In this review, we will give an account of how the cell cycle machinery and metabolism are interconnected. Acquiring information on how communication takes place among metabolic signaling networks and the cell cycle controllers is crucial to increase our understanding of the deregulation thereof in disease, including cancer. 相似文献
77.
Dam TK Cavada BS Nagano CS Rocha BA Benevides RG Nascimento KS de Sousa LA Oscarson S Brewer CF 《Glycobiology》2011,21(7):925-933
The legume species of Cymbosema roseum of Diocleinae subtribe produce at least two different seed lectins. The present study demonstrates that C. roseum lectin I (CRL I) binds with high affinity to the "core" trimannoside of N-linked oligosaccharides. Cymbosema roseum lectin II (CRL II), on the other hand, binds with high affinity to the blood group H trisaccharide (Fucα1,2Galα1-4GlcNAc-). Thermodynamic and hemagglutination inhibition studies reveal the fine binding specificities of the two lectins. Data obtained with a complete set of monodeoxy analogs of the core trimannoside indicate that CRL I recognizes the 3-, 4- and 6-hydroxyl groups of the α(1,6) Man residue, the 3- and 4-hydroxyl group of the α(1,3) Man residue and the 2- and 4-hydroxyl groups of the central Man residue of the trimannoside. CRL I possesses enhanced affinities for the Man5 oligomannose glycan and a biantennary complex glycan as well as glycoproteins containing high-mannose glycans. On the other hand, CRL II distinguishes the blood group H type II epitope from the Lewis(x), Lewis(y), Lewis(a) and Lewis(b) epitopes. CRL II also distinguishes between blood group H type II and type I trisaccharides. CRL I and CRL II, respectively, possess differences in fine specificities when compared with other reported mannose and fucose recognizing lectins. This is the first report of a mannose-specific lectin (CRL I) and a blood group H type II-specific lectin (CRL II) from seeds of a member of the Diocleinae subtribe. 相似文献
78.
Cornelis MC Monda KL Yu K Paynter N Azzato EM Bennett SN Berndt SI Boerwinkle E Chanock S Chatterjee N Couper D Curhan G Heiss G Hu FB Hunter DJ Jacobs K Jensen MK Kraft P Landi MT Nettleton JA Purdue MP Rajaraman P Rimm EB Rose LM Rothman N Silverman D Stolzenberg-Solomon R Subar A Yeager M Chasman DI van Dam RM Caporaso NE 《PLoS genetics》2011,7(4):e1002033
We report the first genome-wide association study of habitual caffeine intake. We included 47,341 individuals of European descent based on five population-based studies within the United States. In a meta-analysis adjusted for age, sex, smoking, and eigenvectors of population variation, two loci achieved genome-wide significance: 7p21 (P = 2.4 × 10(-19)), near AHR, and 15q24 (P = 5.2 × 10(-14)), between CYP1A1 and CYP1A2. Both the AHR and CYP1A2 genes are biologically plausible candidates as CYP1A2 metabolizes caffeine and AHR regulates CYP1A2. 相似文献
79.
80.
Trust and reciprocity facilitate cooperation and are relevant to virtually all human interactions. They are typically studied using trust games: one subject gives (entrusts) money to another subject, which may return some of the proceeds (reciprocate). Currently, however, it is unclear whether trust and reciprocity in monetary transactions are similar in other settings, such as physical effort. Trust and reciprocity of physical effort are important as many everyday decisions imply an exchange of physical effort, and such exchange is central to labor relations. Here we studied a trust game based on physical effort and compared the results with those of a computationally equivalent monetary trust game. We found no significant difference between effort and money conditions in both the amount trusted and the quantity reciprocated. Moreover, there is a high positive correlation in subjects' behavior across conditions. This suggests that trust and reciprocity may be character traits: subjects that are trustful/trustworthy in monetary settings behave similarly during exchanges of physical effort. Our results validate the use of trust games to study exchanges in physical effort and to characterize inter-subject differences in trust and reciprocity, and also suggest a new behavioral paradigm to study these differences. 相似文献