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Genomic imprinting is an epigenetic modification that results in expression from only one of the two parental copies of a gene. Differences in methylation between the two parental chromosomes are often observed at or near imprinted genes. Beckwith-Wiedemann syndrome (BWS), which predisposes to cancer and excessive growth, results from a disruption of imprinted gene expression in chromosome band 11p15.5. One third of individuals with BWS lose maternal-specific methylation at KvDMR1, a putative imprinting control region within intron 10 of the KCNQ1 gene, and it has been proposed that this epimutation results in aberrant imprinting and, consequently, BWS1, 2. Here we show that paternal inheritance of a deletion of KvDMR1 results in the de-repression in cis of six genes, including Cdkn1c, which encodes cyclin-dependent kinase inhibitor 1C. Furthermore, fetuses and adult mice that inherited the deletion from their fathers were 20-25% smaller than their wildtype littermates. By contrast, maternal inheritance of this deletion had no effect on imprinted gene expression or growth. Thus, the unmethylated paternal KvDMR1 allele regulates imprinted expression by silencing genes on the paternal chromosome. These findings support the hypothesis that loss of methylation in BWS patients activates the repressive function of KvDMR1 on the maternal chromosome, resulting in abnormal silencing of CDKN1C and the development of BWS. 相似文献
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The critical current in the vortex phase of a type-II superconductor such as NbSe2 displays a striking anomaly in the vicinity of the superconductor-to-normal-metal transition. Instead of going to zero smoothly, it rebounds to a sharp and pronounced maximum, just before vanishing at the transition. This counter-intuitive phenomenon, known as the peak effect, has remained an unsolved problem for 40 years. Here we use a scanning a.c. Hall microscope to visualize the real-space distribution of the critical current in NbSe2. We show that in the peak-effect regime two distinct vortex-matter phases with intrinsically different pinning strengths coexist on a macroscopic scale. The composition of the two-phase mixture and the transformation of one phase into another are responsible for the history effects and anomalous voltage response commonly seen when external parameters such as temperature, magnetic field or transport current are varied. We argue that the observed phase coexistence is, in fact, the hallmark of a disorder-driven non-thermal phase transition. 相似文献
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Higgins JM 《Cellular and molecular life sciences : CMLS》2003,60(3):446-462
The haspins constitute a newly defined protein family containing a distinctive C-terminal eukaryotic protein kinase domain and divergent N termini. Haspin homologues are found in animals, plants and fungi, suggesting an origin early in eukaryotic evolution. Most species have a single haspin homologue. However, Saccharomyces cerevisiae has two such genes, while Caenorhabditis elegans has at least three haspin homologues and approximately 16 haspin-related genes. Mammalian haspin genes have features of retrogenes and are strongly expressed in male germ cells and at lower levels in some somatic tissues. They encode nuclear proteins with serine/threonine kinase activity. Murine haspin is reported to inhibit cell cycle progression in cell lines. One of the S. cerevisiae homologues, ALK1, is a member of the CLB2 gene cluster that peaks in expression at M phase and thus may function in mitosis. Therefore, the haspins are an intriguing group of kinases likely to have important roles during or following both meiosis and mitosis. 相似文献
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Paltiel Y Zeldov E Myasoedov YN Shtrikman H Bhattacharya S Higgins MJ Xiao ZL Andrei EY Gammel PL Bishop DJ 《Nature》2000,403(6768):398-401
The magnetic flux line lattice in type II superconductors serves as a useful system in which to study condensed matter flow, as its dynamic properties are tunable. Recent studies have shown a number of puzzling phenomena associated with vortex motion, including: low-frequency noise and slow voltage oscillations; a history-dependent dynamic response, and memory of the direction, amplitude duration and frequency of the previously applied current; high vortex mobility for alternating current, but no apparent vortex motion for direct currents; and strong suppression of an a.c. response by small d.c. bias. Taken together, these phenomena are incompatible with current understanding of vortex dynamics. Here we report a generic mechanism that accounts for these observations. Our model, which is derived from investigations of the current distribution across single crystals of NbSe2, is based on a competition between the injection of a disordered vortex phase at the sample edges, and the dynamic annealing of this metastable disorder by the transport current. For an alternating current, only narrow regions near the edges are in the disordered phase, while for d.c. bias, most of the sample is in the disordered phase--preventing vortex motion because of more efficient pinning. The resulting spatial dependence of the disordered vortex system serves as an active memory of the previous history. 相似文献
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【目的】研究丛枝菌根(Arbuscular mycorrhiza,AM)真菌在喀斯特自然土壤条件下对喀斯特先锋草本植物根系的影响。【方法】通过自然土接种AM真菌(N)、灭菌土接种AM真菌(M)及灭菌土壤对照(S)共3种土壤处理,种植喀斯特先锋植物狗尾草(Setaria viridis)、荩草(Arthraxon hispidus)、鬼针草(Bidens pilosa)及狼杷草(Bidens tripartita),并测定它们的根系生物量、根长、根表面积、根体积、根平均直径、根尖数及根分枝数。【结果】荩草、鬼针草及狼杷草在N处理及M处理下具有较高的菌根侵染率,狗尾草的菌根侵染率较低。与S处理相比,M处理下AM真菌明显提高了荩草、鬼针草及狼杷草的根系生物量、根长、根表面积、根体积、根尖数、根分枝数及组织密度,降低了根平均直径、比根长、比根面积及比根体积;与M处理相比,N处理明显降低了荩草、鬼针草及狼杷草的根系生物量、根长、根表面积、根体积、根尖数、根分枝数及组织密度,提高了比根长、比根面积及比根体积,但对根平均直径无明显影响。【结论】荩草、鬼针草及狼杷草具有较高菌根侵染率,能与AM真菌共生获得更加发达的根系,而自然土壤削弱了AM真菌对荩草、鬼针草及狼杷草根系生长的促进作用。 相似文献
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A E Cass M J Eddowes H A Hill K Uosaki R C Hammond I J Higgins E Plotkin 《Nature》1980,285(5767):673-674
Redox proteins catalyse the reactions of a wide variety of otherwise intractable substrates, such as dinitrogen, alkanes, arenes, terpenes and steroids. Two major factors impede the utilization of these enzymes--the inefficient electron transfer between the enzyme and electrode, and the properties often, but not inevitably, associated with enzymes, such as instability, complexity, and expense. We have now shown that the former can be overcome and that proteins can be coupled, via electrodes, to a number of energy sources; the latter is the subject of much effort elsewhere. We demonstrated previously that certain redox proteins can be reduced very efficiently electrochemically (Fig. 1a). Light and hydrogen are the two other convenient energy sources that could be used for such reductions, and we now report the reduction of cytochrome c by these means. 相似文献
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