Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome. As SMARCB1 encodes a subunit of the SWItch/Sucrose NonFermenting (SWI/SNF) complex, we screened 15 other genes encoding subunits of this complex in 23 individuals with CSS. Twenty affected individuals (87%) each had a germline mutation in one of six SWI/SNF subunit genes, including SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A and ARID1B.     

Ferroelectricity from iron valence ordering in the charge-frustrated system LuFe2O4

Ferroelectric materials are widely used in modern electric devices such as memory elements, filtering devices and high-performance insulators. Ferroelectric crystals have a spontaneous electric polarization arising from the coherent arrangement of electric dipoles (specifically, a polar displacement of anions and cations). First-principles calculations and electron density analysis of ferroelectric materials have revealed that the covalent bond between the anions and cations, or the orbital hybridization of electrons on both ions, plays a key role in establishing the dipolar arrangement. However, an alternative model-electronic ferroelectricity-has been proposed in which the electric dipole depends on electron correlations, rather than the covalency. This would offer the attractive possibility of ferroelectric materials that could be controlled by the charge, spin and orbital degrees of freedom of the electron. Here we report experimental evidence for ferroelectricity arising from electron correlations in the triangular mixed valence oxide, LuFe(2)O(4). Using resonant X-ray scattering measurements, we determine the ordering of the Fe(2+) and Fe(3+) ions. They form a superstructure that supports an electric polarization consisting of distributed electrons of polar symmetry. The polar ordering arises from the repulsive property of electrons-electron correlations-acting on a frustrated geometry.     

Formation and characterization of phthalocyanine dimer/C60 solar cells

Ni-Cu-Zn ferrite/CaTiO_3 and Ni-Cu-Zn ferrite/BaTiO_3 composites which can be applied in low temperature co-fired ceramic(LTCC) technology were synthesized by conventional solid-state reaction at temperature lower than 950℃.Influence of the microstructures and the gap parameterδ/D on the complex permeability of the above two composites was investigated.The modifiedδ/D values of the above two composites show a good fit to the magnetic circuit model.The dielectric properties of the composites were predicte...     

Grinding Characteristics Of Directionally Aligned SiC Whisker Wheel - Comparison With A12O3 Fiber Wheel

A unique SiC whisker wheel was invented, in which the whiskers were aligned normally to the grinding wheel surface. In this paper, grindabilities of the SiC whisker wheel are investigated and compared with those of other wheels of SiC grains, Al2O3 grains, as well as Al2O3 long and short fibres which were also aligned normally to the grinding wheel surface, respectively. The main research contents concern grinding characteristics of a directionally aligned SiC whisker wheel such as material-removal volume, wheel-wear rates, integrity of the ground surfaces, grinding ratios and grinding efficiency. Furthermore, grinding wheels of whiskers and fibres have a common disadvantage: they tend to load easily. The authors have proposed a simple method of loading-free grinding to overcome this propensity and investigate some related grinding characteristics under loading-free grinding conditions.     

Northern Hemisphere forcing of climatic cycles in Antarctica over the past 360,000 years

The Milankovitch theory of climate change proposes that glacial-interglacial cycles are driven by changes in summer insolation at high northern latitudes. The timing of climate change in the Southern Hemisphere at glacial-interglacial transitions (which are known as terminations) relative to variations in summer insolation in the Northern Hemisphere is an important test of this hypothesis. So far, it has only been possible to apply this test to the most recent termination, because the dating uncertainty associated with older terminations is too large to allow phase relationships to be determined. Here we present a new chronology of Antarctic climate change over the past 360,000 years that is based on the ratio of oxygen to nitrogen molecules in air trapped in the Dome Fuji and Vostok ice cores. This ratio is a proxy for local summer insolation, and thus allows the chronology to be constructed by orbital tuning without the need to assume a lag between a climate record and an orbital parameter. The accuracy of the chronology allows us to examine the phase relationships between climate records from the ice cores and changes in insolation. Our results indicate that orbital-scale Antarctic climate change lags Northern Hemisphere insolation by a few millennia, and that the increases in Antarctic temperature and atmospheric carbon dioxide concentration during the last four terminations occurred within the rising phase of Northern Hemisphere summer insolation. These results support the Milankovitch theory that Northern Hemisphere summer insolation triggered the last four deglaciations.     

参与碱基切除修复的AP内切酶1的克隆和蛋白质纯化

碱基切除修复途径是去除氧化和甲基化碱基的最主要途径。在碱基切除修复过程中,多个蛋白质,诸如DNA糖基酶、APE1内切酶、DNA聚合酶beta和DNA连接酶在体内的精密调节下高度协调地作用,从而切除受损碱基,使DNA恢复正常序列。碱基切除修复对维持基因组的稳定及抑制肿瘤发生等生理过程有重要作用。为了进一步从分子水平阐明APE1的作用机制,我们从HeLa细胞的cDNA文库中克隆得到APE1基因,使APE1在大肠杆菌中得到表达,并用蛋白质纯化的快速液相层析法经过一系列层析柱纯化了重组APE1蛋白质,APE1的生物化学功能研究正在进行中。     

Condensin association with histone H2A shapes mitotic chromosomes

Chromosome structure is dynamically regulated during cell division, and this regulation is dependent, in part, on condensin. The localization of condensin at chromosome arms is crucial for chromosome partitioning during anaphase. Condensin is also enriched at kinetochores but its precise role and loading machinery remain unclear. Here we show that fission yeast (Schizosaccharomyces pombe) kinetochore proteins Pcs1 and Mde4--homologues of budding yeast (Saccharomyces cerevisiae) monopolin subunits and known to prevent merotelic kinetochore orientation--act as a condensin 'recruiter' at kinetochores, and that condensin itself may act to clamp microtubule binding sites during metaphase. In addition to the regional recruitment factors, overall condensin association with chromatin is governed by the chromosomal passenger kinase Aurora B. Aurora-B-dependent phosphorylation of condensin promotes its association with histone H2A and H2A.Z, which we identify as conserved chromatin 'receptors' of condensin. Condensin phosphorylation and its deposition onto chromosome arms reach a peak during anaphase, when Aurora B kinase relocates from centromeres to the spindle midzone, where the separating chromosome arms are positioned. Our results elucidate the molecular basis for the spatiotemporal regulation of mitotic chromosome architecture, which is crucial for chromosome partitioning.     

Fabrication, nanostructures and electronic properties of nanodiamond-based solar cells

Nanodiamond-based solar cells were fa bricated and the photovoltaic properties were investigated. Fullerene (C60) and fullerenol (C60(OH)10-12) were used as n-type semiconductors, and diamond nan oparticles and metal phthalocyanine derivative were used as p-type semiconductors. The nanostructures of the solar cel ls were investigated by transmission electron microscopy and X-ray diffracometry, and the electronic property was discussed.