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排序方式: 共有250条查询结果,搜索用时 390 毫秒
1.
DNA methylation is the major epigenetic modification and it is involved in the negative regulation of gene expression. Its alteration can lead to neoplastic transformation. Several biomolecular approaches are nowadays used to study this modification on DNA, but also on RNA molecules, which are known to play a role in different biological processes. RNA methylation is one of the most common RNA modifications and 5-methylcytosine presence has recently been suggested in mRNA. However, an analysis of nucleic acid methylation at electron microscope is still lacking. Therefore, we visualized DNA methylation status and RNA methylation sites in the interphase nucleus of HeLa cells and rat hepatocytes by ultrastructural immunocytochemistry and cytochemical staining. This approach represents an efficient alternative to study nucleic acid methylation. In particular, this ultrastructural method makes the visualization of this epigenetic modification on a single RNA molecule possible, thus overcoming the technical limitations for a (pre-)mRNA methylation analysis. 相似文献
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Harakalova M van Harssel JJ Terhal PA van Lieshout S Duran K Renkens I Amor DJ Wilson LC Kirk EP Turner CL Shears D Garcia-Minaur S Lees MM Ross A Venselaar H Vriend G Takanari H Rook MB van der Heyden MA Asselbergs FW Breur HM Swinkels ME Scurr IJ Smithson SF Knoers NV van der Smagt JJ Nijman IJ Kloosterman WP van Haelst MM van Haaften G Cuppen E 《Nature genetics》2012,44(7):793-796
Cantú syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the 16 individuals with Cantú syndrome examined. The ABCC9 protein is part of an ATP-dependent potassium (K(ATP)) channel that couples the metabolic state of a cell with its electrical activity. All mutations altered amino acids in or close to the transmembrane domains of ABCC9. Using electrophysiological measurements, we show that mutations in ABCC9 reduce the ATP-mediated potassium channel inhibition, resulting in channel opening. Moreover, similarities between the phenotype of individuals with Cantú syndrome and side effects from the K(ATP) channel agonist minoxidil indicate that the mutations in ABCC9 result in channel opening. Given the availability of ABCC9 antagonists, our findings may have direct implications for the treatment of individuals with Cantú syndrome. 相似文献
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Evidence for cultivar adoption and emerging complexity during the mid-Holocene in the La Plata basin
Iriarte J Holst I Marozzi O Listopad C Alonso E Rinderknecht A Montaña J 《Nature》2004,432(7017):614-617
Multidisciplinary investigations at the Los Ajos archaeological mound complex in the wetlands of southeastern Uruguay challenge the traditional view that the La Plata basin was inhabited by simple groups of hunters and gatherers for much of the pre-Hispanic era. Here we report new archaeological, palaeoecological and botanical data indicating that during an increasingly drier mid-Holocene, at around 4,190 radiocarbon (14C) years before present (bp), Los Ajos became a permanent circular plaza village, and its inhabitants adopted the earliest cultivars known in southern South America. The architectural plan of Los Ajos during the following Ceramic Mound Period (around 3,000-500 14C yr bp) is similar to, but earlier than, settlement patterns demonstrated in Amazonia, revealing a new and independent architectural tradition for South America. 相似文献
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Vissers LE van Ravenswaaij CM Admiraal R Hurst JA de Vries BB Janssen IM van der Vliet WA Huys EH de Jong PJ Hamel BC Schoenmakers EF Brunner HG Veltman JA van Kessel AG 《Nature genetics》2004,36(9):955-957
CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome. Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals. 相似文献
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Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer 总被引:26,自引:0,他引:26
Tomlinson IP Alam NA Rowan AJ Barclay E Jaeger EE Kelsell D Leigh I Gorman P Lamlum H Rahman S Roylance RR Olpin S Bevan S Barker K Hearle N Houlston RS Kiuru M Lehtonen R Karhu A Vilkki S Laiho P Eklund C Vierimaa O Aittomäki K Hietala M Sistonen P Paetau A Salovaara R Herva R Launonen V Aaltonen LA;Multiple Leiomyoma Consortium 《Nature genetics》2002,30(4):406-410
9.
Reeves JN Watson D Osborne JP Pounds KA O'Brien PT Short AD Turner MJ Watson MG Mason KO Ehle M Schartel N 《Nature》2002,416(6880):512-515
Now that gamma-ray bursts (GRBs) have been determined to lie at cosmological distances, their isotropic burst energies are estimated to be as high as 1054 erg (ref. 2), making them the most energetic phenomena in the Universe. The nature of the progenitors responsible for the bursts remains, however, elusive. The favoured models range from the merger of two neutron stars in a binary system to the collapse of a massive star. Spectroscopic studies of the afterglow emission could reveal details of the environment of the burst, by indicating the elements present, the speed of the outflow and an estimate of the temperature. Here we report an X-ray spectrum of the afterglow of GRB011211, which shows emission lines of magnesium, silicon, sulphur, argon, calcium and possibly nickel, arising in metal-enriched material with an outflow velocity of the order of one-tenth the speed of light. These observations strongly favour models where a supernova explosion from a massive stellar progenitor precedes the burst event and is responsible for the outflowing matter. 相似文献
10.
Recombinational DNA double-strand breaks in mice precede synapsis 总被引:24,自引:0,他引:24
Mahadevaiah SK Turner JM Baudat F Rogakou EP de Boer P Blanco-Rodríguez J Jasin M Keeney S Bonner WM Burgoyne PS 《Nature genetics》2001,27(3):271-276
In Saccharomyces cerevisiae, meiotic recombination is initiated by Spo11-dependent double-strand breaks (DSBs), a process that precedes homologous synapsis. Here we use an antibody specific for a phosphorylated histone (gamma-H2AX, which marks the sites of DSBs) to investigate the timing, distribution and Spo11-dependence of meiotic DSBs in the mouse. We show that, as in yeast, recombination in the mouse is initiated by Spo11-dependent DSBs that form during leptotene. Loss of gamma-H2AX staining (which in irradiated somatic cells is temporally linked with DSB repair) is temporally and spatially correlated with synapsis, even when this synapsis is 'non-homologous'. 相似文献