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Ebert BL  Pretz J  Bosco J  Chang CY  Tamayo P  Galili N  Raza A  Root DE  Attar E  Ellis SR  Golub TR 《Nature》2008,451(7176):335-339
Somatic chromosomal deletions in cancer are thought to indicate the location of tumour suppressor genes, by which a complete loss of gene function occurs through biallelic deletion, point mutation or epigenetic silencing, thus fulfilling Knudson's two-hit hypothesis. In many recurrent deletions, however, such biallelic inactivation has not been found. One prominent example is the 5q- syndrome, a subtype of myelodysplastic syndrome characterized by a defect in erythroid differentiation. Here we describe an RNA-mediated interference (RNAi)-based approach to discovery of the 5q- disease gene. We found that partial loss of function of the ribosomal subunit protein RPS14 phenocopies the disease in normal haematopoietic progenitor cells, and also that forced expression of RPS14 rescues the disease phenotype in patient-derived bone marrow cells. In addition, we identified a block in the processing of pre-ribosomal RNA in RPS14-deficient cells that is functionally equivalent to the defect in Diamond-Blackfan anaemia, linking the molecular pathophysiology of the 5q- syndrome to a congenital syndrome causing bone marrow failure. These results indicate that the 5q- syndrome is caused by a defect in ribosomal protein function and suggest that RNAi screening is an effective strategy for identifying causal haploinsufficiency disease genes.  相似文献   
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Chrysididae is a diverse group of parasitoid/cleptoparasitic wasps; however, host–parasite relationships and life cycles of few species have been studied. Nests of different wasp and bee species were obtained during a trap-nesting programme, in the Pampean region. Some of these nests were parasitised by cuckoo wasps females of Caenochrysis taschenbergi (Mocsáry), Chrysis boutheryi (Brèthes), C. saltana Bohart, C. sp. 1 (ignita-group), C. sp. 2 (ignita-group), Neochrysis lecointei (Ducke), Pleurochrysis ancilla (Buysson) and P. lynchi (Bréthes). This paper reports new data about host–parasite relationships and life cycles for these species. Multiple parasites (from one species or from different families of insects) emerged from single cells of some parasitised nests: from each host cell parasitised by species of Pleurochrysis, two adults emerged successfully, information previously unknown for the genus; and in three cases of cells parasitised by C. boutheryi, two adults successfully emerged from a single cell; in two cases both individuals were chrysidine, and in third one was chrysidine and one Leucospis pulchripes (Leucospidae).  相似文献   
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Rauhut OW  Remes K  Fechner R  Cladera G  Puerta P 《Nature》2005,435(7042):670-672
Sauropod dinosaurs are one of the most conspicuous groups of Mesozoic terrestrial vertebrates. They show general trends towards an overall increase in size and elongation of the neck, by means of considerable elongation of the length of individual vertebrae and a cervical vertebra count that, in some cases, increases to 19 (ref. 1). The long neck is a particular hallmark of sauropod dinosaurs and is usually regarded as a key feeding adaptation. Here we describe a new dicraeosaurid sauropod, from the latest Jurassic period of Patagonia, that has a particularly short neck. With a neck that is about 40% shorter than in other known dicraeosaurs, this taxon demonstrates a trend opposite to that seen in most sauropods and indicates that the ecology of dicraeosaurids might have differed considerably from that of other sauropods. The new taxon indicates that there was a rapid radiation and dispersal of dicraeosaurids in the Late Jurassic of the Southern Hemisphere, after the separation of Gondwana from the northern continents by the late Middle Jurassic.  相似文献   
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Systemic Practice and Action Research - This article proposes a model based on the integration of systemic mechanisms such as the soft systems methodology, partial least squares path modelling and...  相似文献   
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Approaching a state shift in Earth's biosphere   总被引:1,自引:0,他引:1  
Localized ecological systems are known to shift abruptly and irreversibly from one state to another when they are forced across critical thresholds. Here we review evidence that the global ecosystem as a whole can react in the same way and is approaching a planetary-scale critical transition as a result of human influence. The plausibility of a planetary-scale 'tipping point' highlights the need to improve biological forecasting by detecting early warning signs of critical transitions on global as well as local scales, and by detecting feedbacks that promote such transitions. It is also necessary to address root causes of how humans are forcing biological changes.  相似文献   
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Sugimoto Y  Pou P  Abe M  Jelinek P  Pérez R  Morita S  Custance O 《Nature》2007,446(7131):64-67
Scanning probe microscopy is a versatile and powerful method that uses sharp tips to image, measure and manipulate matter at surfaces with atomic resolution. At cryogenic temperatures, scanning probe microscopy can even provide electron tunnelling spectra that serve as fingerprints of the vibrational properties of adsorbed molecules and of the electronic properties of magnetic impurity atoms, thereby allowing chemical identification. But in many instances, and particularly for insulating systems, determining the exact chemical composition of surfaces or nanostructures remains a considerable challenge. In principle, dynamic force microscopy should make it possible to overcome this problem: it can image insulator, semiconductor and metal surfaces with true atomic resolution, by detecting and precisely measuring the short-range forces that arise with the onset of chemical bonding between the tip and surface atoms and that depend sensitively on the chemical identity of the atoms involved. Here we report precise measurements of such short-range chemical forces, and show that their dependence on the force microscope tip used can be overcome through a normalization procedure. This allows us to use the chemical force measurements as the basis for atomic recognition, even at room temperature. We illustrate the performance of this approach by imaging the surface of a particularly challenging alloy system and successfully identifying the three constituent atomic species silicon, tin and lead, even though these exhibit very similar chemical properties and identical surface position preferences that render any discrimination attempt based on topographic measurements impossible.  相似文献   
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