Abstract:
:The ATM (ataxia-telangiectasia mutated) protein kinase mediates early cellular responses to DNA double-strand breaks (DSBs) generated during metabolic processes or by DNA-damaging agents. ATM deficiency leads to ataxia-telangiectasia, a disease marked by lymphopenia, genomic instability and an increased predisposition to lymphoid malignancies with chromosomal translocations involving lymphocyte antigen receptor loci. ATM activates cell-cycle checkpoints and can induce apoptosis in response to DNA DSBs. However, defects in these pathways of the DNA damage response cannot fully account for the phenotypes of ATM deficiency. Here, we show that ATM also functions directly in the repair of chromosomal DNA DSBs by maintaining DNA ends in repair complexes generated during lymphocyte antigen receptor gene assembly. When coupled with the cell-cycle checkpoint and pro-apoptotic activities of ATM, these findings provide a molecular explanation for the increase in lymphoid tumours with translocations involving antigen receptor loci associated with ataxia-telangiectasia.
journal_name
Naturejournal_title
Natureauthors
Bredemeyer AL,Sharma GG,Huang CY,Helmink BA,Walker LM,Khor KC,Nuskey B,Sullivan KE,Pandita TK,Bassing CH,Sleckman BPdoi
10.1038/nature04866subject
Has Abstractpub_date
2006-07-27 00:00:00pages
466-70issue
7101eissn
0028-0836issn
1476-4687pii
nature04866journal_volume
442pub_type
杂志文章相关文献
NATURE文献大全abstract::Williams syndrome is a genetic neurodevelopmental disorder characterized by an uncommon hypersociability and a mosaic of retained and compromised linguistic and cognitive abilities. Nearly all clinically diagnosed individuals with Williams syndrome lack precisely the same set of genes, with breakpoints in chromosome b...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature19067
更新日期:2016-08-18 00:00:00
abstract::Organic photovoltaic cells are now approaching commercially viable efficiencies, particularly for applications that make use of their unique potential for flexibility and semitransparency1-3. However, their reliability remains a major concern, as even the most stable devices reported so far degrade within only a few y...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/s41586-019-1544-1
更新日期:2019-09-01 00:00:00
abstract::An inhomogeneous superconducting state, not yet conclusively identified, was predicted by Fulde and Ferrell and Larkin and Ovchinnikov (FFLO) to arise in superconductors with strong Pauli limiting, a consequence of the electrons' Zeeman (spin) energy in a magnetic field. Radovan et al. propose that the observed cascad...
journal_title:Nature
pub_type: 评论,杂志文章
doi:10.1038/427802a
更新日期:2004-02-26 00:00:00
abstract::The rare Egyptian vulture (Neophron percnopterus) stands out among the Old World vultures (Family Accipitridae) because of its brightly ornamented head, which is coloured yellow by carotenoid pigments, and its practice of feeding on faeces. Here we show that Egyptian vultures obtain these pigments from the excrement o...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/416807a
更新日期:2002-04-25 00:00:00
abstract::We have shown previously that chemically skinned fibre bundles from scallop muscle can be desensitized to the action of calcium by the removal of the regulatory light chains of myosin and that sensitivity can be restored by the re-addition of scallop light chains. We have now confirmed these results and extended our o...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/286626a0
更新日期:1980-08-07 00:00:00
abstract::Comparisons of three-dimensional maps of vertebrate muscle thin filaments obtained by cryo-electron microscopy and image analysis, reveal the molecular structure of F-actin, the location of the C terminus of the monomer and the positions of the binding sites of tropomyosin, the myosin head and the N-terminal portion o...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/348217a0
更新日期:1990-11-15 00:00:00
abstract::In 1928, Dirac published an equation 1 that combined quantum mechanics and special relativity. Negative-energy solutions to this equation, rather than being unphysical as initially thought, represented a class of hitherto unobserved and unimagined particles-antimatter. The existence of particles of antimatter was conf...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/s41586-018-0017-2
更新日期:2018-05-01 00:00:00
abstract::Induced pluripotent stem cells (iPSCs) have been generated by enforced expression of defined sets of transcription factors in somatic cells. It remains controversial whether iPSCs are molecularly and functionally equivalent to blastocyst-derived embryonic stem (ES) cells. By comparing genetically identical mouse ES ce...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature09017
更新日期:2010-05-13 00:00:00
abstract::Thewissen et al. describe new fossils from India that apparently support a phylogeny that places Cetacea (that is, whales, dolphins, porpoises) as the sister group to the extinct family Raoellidae, and Hippopotamidae as more closely related to pigs and peccaries (that is, Suina) than to cetaceans. However, our reanaly...
journal_title:Nature
pub_type: 评论,杂志文章
doi:10.1038/nature07776
更新日期:2009-03-19 00:00:00
abstract::The neuronal structure and connectivity underlying receptive field organisation of cells in the cat visual cortex have been investigated. Intracellular recordings were made using a micropipette filled with a histochemical marker, which was injected into the cells after their receptive fields had been characterised. Th...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/280120a0
更新日期:1979-07-12 00:00:00
abstract::Kalka is one of about 14 major layered mafic-ultramafic intrusions forming the Giles Complex in central Australia1. The stratigraphical section of the Kalka Intrusion passes from a basal pyroxenite zone (450 + m) through norite and olivine gabbro zones (3,500 m) to an uppermost anorthosite zone (800 + m)2. Further res...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/294155a0
更新日期:1981-11-12 00:00:00
abstract::Crossover recombination events between homologous chromosomes are required to form chiasmata, temporary connections between homologues that ensure their proper segregation at meiosis I. Despite this requirement for crossovers and an excess of the double-strand DNA breaks that are the initiating events for meiotic reco...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature12577
更新日期:2013-10-31 00:00:00
abstract::Nutrients, such as amino acids and glucose, signal through the Rag GTPases to activate mTORC1. The GATOR1 protein complex-comprising DEPDC5, NPRL2 and NPRL3-regulates the Rag GTPases as a GTPase-activating protein (GAP) for RAGA; loss of GATOR1 desensitizes mTORC1 signalling to nutrient starvation. GATOR1 components h...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature26158
更新日期:2018-04-05 00:00:00
abstract::Tuberculosis is the leading cause of death in the world resulting from a single bacterial infection. Despite its enormous burden on world health, little is known about the molecular mechanisms of pathogenesis of Mycobacterium tuberculosis. Bacterial multiplication and concomitant tissue damage within an infected host,...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/47042
更新日期:1999-11-04 00:00:00
abstract::The kinetics of the thrombin-catalysed release of fibrino-peptides A and B from human fibrinogen have been investigated and a mechanism correlating the release of fibrinopeptides to fibrin formation is presented. The sequential release of fibrinopeptides results in sequential activation of two sets of polymerisation s...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/275501a0
更新日期:1978-10-12 00:00:00
abstract::Organisms use endogenous clocks to anticipate regular environmental cycles, such as days and tides. Natural variants resulting in differently timed behaviour or physiology, known as chronotypes in humans, have not been well characterized at the molecular level. We sequenced the genome of Clunio marinus, a marine midge...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature20151
更新日期:2016-12-01 00:00:00
abstract::Protoplanetary disks are known to possess a variety of substructures in the distribution of their millimetre-sized grains, predominantly seen as rings and gaps1, which are frequently interpreted as arising from the shepherding of large grains by either hidden, still-forming planets within the disk2 or (magneto-)hydrod...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/s41586-019-1642-0
更新日期:2019-10-01 00:00:00
abstract::The rod and cone transducins are specific G proteins originally thought to be present only in photoreceptor cells of the vertebrate retina. Transducins convert light stimulation of photoreceptor opsins into activation of cyclic GMP phosphodiesterase (reviewed in refs. 5-7). A transducin-like G protein, gustducin, has ...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/376080a0
更新日期:1995-07-06 00:00:00
abstract::The fossil record of the living great apes is poor. New fossils from undocumented areas, particularly the equatorial forested habitats of extant hominoids, are therefore crucial for understanding their origins and evolution. Two main competing hypotheses have been proposed for orang-utan origins: dental similarities s...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature02245
更新日期:2004-01-29 00:00:00
abstract::Sodium channels in plasma membranes can be blocked by a large variety of toxins and local anaesthetics. This property, however, is not confined to relatively large molecules. For instance, extracellularly applied small ions like hydrogen may also prevent the passive transport of permeant cations across open Na+ channe...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/287062a0
更新日期:1980-09-04 00:00:00
abstract::Insect eyes have an anti-reflective coating, owing to nanostructures on the corneal surface creating a gradient of refractive index between that of air and that of the lens material1,2. These nanocoatings have also been shown to provide anti-adhesive functionality3. The morphology of corneal nanocoatings are very dive...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/s41586-020-2707-9
更新日期:2020-09-01 00:00:00
abstract::Long-term potentiation (LTP) and long-term depression (LTD) are activity-dependent changes in synaptic strength that may serve as the cellular mechanisms of information storage in the vertebrate brain. The mossy fibre-CA3 synapse displays NMDA (M-methyl-D-aspartate) receptor-independent forms of LTP and LTD that were ...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/381429a0
更新日期:1996-05-30 00:00:00
abstract::Despite the introduction of antiproliferative drug-eluting stents, coronary heart disease remains the leading cause of death in the United States. In-stent restenosis and bypass graft failure are characterized by excessive smooth muscle cell (SMC) proliferation and concomitant myointima formation with luminal oblitera...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature13232
更新日期:2014-05-29 00:00:00
abstract::In vast areas of the ocean, the scarcity of iron controls the growth and productivity of phytoplankton. Although most dissolved iron in the marine environment is complexed with organic molecules, picomolar amounts of labile inorganic iron species (labile iron) are maintained within the euphotic zone and serve as an im...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature25982
更新日期:2018-03-22 00:00:00
abstract::Digital organisms are computer programs that self-replicate, mutate and adapt by natural selection. They offer an opportunity to test generalizations about living systems that may extend beyond the organic life that biologists usually study. Here we have generated two classes of digital organism: simple programs selec...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/23245
更新日期:1999-08-12 00:00:00
abstract::The heterotrimeric G proteins mediate a variety of cellular processes by coupling transmembrane receptors to different effector molecules, including adenylyl cyclases and inositol-phospholipid-specific phospholipase C (PLC)1-3. Activation of adenylyl cyclases results in the production of cyclic AMP and activation of c...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/382083a0
更新日期:1996-07-04 00:00:00
abstract::On infection of their host, temperate viruses that infect bacteria (bacteriophages; hereafter referred to as phages) enter either a lytic or a lysogenic cycle. The former results in lysis of bacterial cells and phage release (resulting in horizontal transmission), whereas lysogeny is characterized by the integration o...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/s41586-020-1936-2
更新日期:2020-02-01 00:00:00
abstract::The molecular machinery responsible for the generation of transport carriers moving from the Golgi complex to the plasma membrane relies on a tight interplay between proteins and lipids. Among the lipid-binding proteins of this machinery, we previously identified the four-phosphate adaptor protein FAPP2, the pleckstri...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature06097
更新日期:2007-09-06 00:00:00
abstract::Many small proteins seem to fold by a simple process explicable by conventional chemical kinetics and transition-state theory. This assumes an instant equilibrium between reactants and a high-energy activated state. In reality, equilibration occurs on timescales dependent on the molecules involved, below which such an...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature01609
更新日期:2003-05-08 00:00:00
abstract::Skeletal muscles consist of motor units which may differ considerably in contractile properties and types of usage. Some units participate mainly in relatively rare, quick movements and contract rapidly and are easily fatigued (type FF); others contribute to the maintenance of posture and hence contract slowly and are...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/314164a0
更新日期:1985-03-14 00:00:00