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111.
Ching TT Maunakea AK Jun P Hong C Zardo G Pinkel D Albertson DG Fridlyand J Mao JH Shchors K Weiss WA Costello JF 《Nature genetics》2005,37(6):645-651
CpG islands are present in one-half of all human and mouse genes and typically overlap with promoters or exons. We developed a method for high-resolution analysis of the methylation status of CpG islands genome-wide, using arrays of BAC clones and the methylation-sensitive restriction enzyme NotI. Here we demonstrate the accuracy and specificity of the method. By computationally mapping all NotI sites, methylation events can be defined with single-nucleotide precision throughout the genome. We also demonstrate the unique expandability of the array method using a different methylation-sensitive restriction enzyme, BssHII. We identified and validated new CpG island loci that are methylated in a tissue-specific manner in normal human tissues. The methylation status of the CpG islands is associated with gene expression for several genes, including SHANK3, which encodes a structural protein in neuronal postsynaptic densities. Defects in SHANK3 seem to underlie human 22q13 deletion syndrome. Furthermore, these patterns for SHANK3 are conserved in mice and rats. 相似文献
112.
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 总被引:18,自引:0,他引:18
Loeys BL Chen J Neptune ER Judge DP Podowski M Holm T Meyers J Leitch CC Katsanis N Sharifi N Xu FL Myers LA Spevak PJ Cameron DE De Backer J Hellemans J Chen Y Davis EC Webb CL Kress W Coucke P Rifkin DB De Paepe AM Dietz HC 《Nature genetics》2005,37(3):275-281
We report heterozygous mutations in the genes encoding either type I or type II transforming growth factor beta receptor in ten families with a newly described human phenotype that includes widespread perturbations in cardiovascular, craniofacial, neurocognitive and skeletal development. Despite evidence that receptors derived from selected mutated alleles cannot support TGFbeta signal propagation, cells derived from individuals heterozygous with respect to these mutations did not show altered kinetics of the acute phase response to administered ligand. Furthermore, tissues derived from affected individuals showed increased expression of both collagen and connective tissue growth factor, as well as nuclear enrichment of phosphorylated Smad2, indicative of increased TGFbeta signaling. These data definitively implicate perturbation of TGFbeta signaling in many common human phenotypes, including craniosynostosis, cleft palate, arterial aneurysms, congenital heart disease and mental retardation, and suggest that comprehensive mechanistic insight will require consideration of both primary and compensatory events. 相似文献
113.
Brevetoxicosis: red tides and marine mammal mortalities 总被引:2,自引:0,他引:2
Flewelling LJ Naar JP Abbott JP Baden DG Barros NB Bossart GD Bottein MY Hammond DG Haubold EM Heil CA Henry MS Jacocks HM Leighfield TA Pierce RH Pitchford TD Rommel SA Scott PS Steidinger KA Truby EW Van Dolah FM Landsberg JH 《Nature》2005,435(7043):755-756
Potent marine neurotoxins known as brevetoxins are produced by the 'red tide' dinoflagellate Karenia brevis. They kill large numbers of fish and cause illness in humans who ingest toxic filter-feeding shellfish or inhale toxic aerosols. The toxins are also suspected of having been involved in events in which many manatees and dolphins died, but this has usually not been verified owing to limited confirmation of toxin exposure, unexplained intoxication mechanisms and complicating pathologies. Here we show that fish and seagrass can accumulate high concentrations of brevetoxins and that these have acted as toxin vectors during recent deaths of dolphins and manatees, respectively. Our results challenge claims that the deleterious effects of a brevetoxin on fish (ichthyotoxicity) preclude its accumulation in live fish, and they reveal a new vector mechanism for brevetoxin spread through food webs that poses a threat to upper trophic levels. 相似文献
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After decades of speculation, the existence of binary asteroids has been observationally confirmed, with examples in all minor planet populations. However, no triple systems have hitherto been discovered. Here we report the unambiguous detection of a triple asteroidal system in the main belt, composed of a 280-km primary (87 Sylvia) and two small moonlets orbiting at 710 and 1,360 km. We estimate their orbital elements and use them to refine the shape of the primary body. Both orbits are equatorial, circular and prograde, suggesting a common origin. Using the orbital information to estimate its mass and density, 87 Sylvia appears to have a rubble-pile structure with a porosity of 25-60 per cent. The system was most probably formed through the disruptive collision of a parent asteroid, with the new primary resulting from accretion of fragments, while the moonlets are formed from the debris, as has been predicted previously. 相似文献
117.
Ross AJ May-Simera H Eichers ER Kai M Hill J Jagger DJ Leitch CC Chapple JP Munro PM Fisher S Tan PL Phillips HM Leroux MR Henderson DJ Murdoch JN Copp AJ Eliot MM Lupski JR Kemp DT Dollfus H Tada M Katsanis N Forge A Beales PL 《Nature genetics》2005,37(10):1135-1140
The evolutionarily conserved planar cell polarity (PCP) pathway (or noncanonical Wnt pathway) drives several important cellular processes, including epithelial cell polarization, cell migration and mitotic spindle orientation. In vertebrates, PCP genes have a vital role in polarized convergent extension movements during gastrulation and neurulation. Here we show that mice with mutations in genes involved in Bardet-Biedl syndrome (BBS), a disorder associated with ciliary dysfunction, share phenotypes with PCP mutants including open eyelids, neural tube defects and disrupted cochlear stereociliary bundles. Furthermore, we identify genetic interactions between BBS genes and a PCP gene in both mouse (Ltap, also called Vangl2) and zebrafish (vangl2). In zebrafish, the augmented phenotype results from enhanced defective convergent extension movements. We also show that Vangl2 localizes to the basal body and axoneme of ciliated cells, a pattern reminiscent of that of the BBS proteins. These data suggest that cilia are intrinsically involved in PCP processes. 相似文献
118.
Spatial regulation of beta-actin translation by Src-dependent phosphorylation of ZBP1 总被引:2,自引:0,他引:2
Hüttelmaier S Zenklusen D Lederer M Dictenberg J Lorenz M Meng X Bassell GJ Condeelis J Singer RH 《Nature》2005,438(7067):512-515
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Hjorth J Watson D Fynbo JP Price PA Jensen BL Jørgensen UG Kubas D Gorosabel J Jakobsson P Sollerman J Pedersen K Kouveliotou C 《Nature》2005,437(7060):859-861
It has long been known that there are two classes of gamma-ray bursts (GRBs), mainly distinguished by their durations. The breakthrough in our understanding of long-duration GRBs (those lasting more than approximately 2 s), which ultimately linked them with energetic type Ic supernovae, came from the discovery of their long-lived X-ray and optical 'afterglows', when precise and rapid localizations of the sources could finally be obtained. X-ray localizations have recently become available for short (duration <2 s) GRBs, which have evaded optical detection for more than 30 years. Here we report the first discovery of transient optical emission (R-band magnitude approximately 23) associated with a short burst: GRB 050709. The optical afterglow was localized with subarcsecond accuracy, and lies in the outskirts of a blue dwarf galaxy. The optical and X-ray afterglow properties 34 h after the GRB are reminiscent of the afterglows of long GRBs, which are attributable to synchrotron emission from ultrarelativistic ejecta. We did not, however, detect a supernova, as found in most nearby long GRB afterglows, which suggests a different origin for the short GRBs. 相似文献