Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

We systematically analyzed postzygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and performed resequencing using multiple independent technologies. We identified 7.5% of de novo mutations as PZMs, 83.3% of which were not described in previous studies. Damaging, nonsynonymous PZMs within critical exons of prenatally expressed genes were more common in ASD probands than controls (P < 1 Ã 10-6), and genes carrying these PZMs were enriched for expression in the amygdala (P = 5.4 Ã 10-3). Two genes (KLF16 and MSANTD2) were significantly enriched for PZMs genome-wide, and other PZMs involved genes (SCN2A, HNRNPU and SMARCA4) whose mutation is known to cause ASD or other neurodevelopmental disorders. PZMs constitute a significant proportion of de novo mutations and contribute importantly to ASD risk

Batch Fabrication of Broadband Metallic Planar Microlenses and Their Arrays Combining Nanosphere Self-Assembly with Conventional Photolithography

Abstract A novel low-cost, batch-fabrication method combining the spin-coating nanosphere lithography (NSL) with the conventional photolithographic technique is demonstrated to efficiently produce the metallic planar microlenses and their arrays. The developed microlenses are composed of subwavelength nanoholes and can focus light effectively in the entire visible spectrum, with the foci sizes close to the Rayleigh diffraction limit. By changing the spacing and diameter of nanoholes, the focusing efficiency can be tuned. Although the random defects commonly exist during the self-assembly of nanospheres, the main focusing performance, e.g., focal length, depth of focus (DOF), and full-width at half-maximum (FWHM), keeps almost invariable. This research provides a cheap way to realize the integrated nanophotonic devices on the wafer level

The Effect of Different Induction Methods on the Structure and Physicochemical Properties of Glycosylated Soybean Isolate Gels

Soybean protein isolate (SPI), as a full-valued protein, is rich in nutrients, such as amino acids. However, the isolated structure of soybeans makes it difficult to react and thus prepare good gels. In order to further improve the properties of SPIs and to prepare plant-based gels with good performance, this experiment was conducted to prepare maltodextrin glycosylated soybean isolate (MGSI) by the glycosylation of SPI and maltodextrin (MD), and the gels were prepared by thermal induction, transglutaminase (TGase) induction, and TG-MgCl2 co-induction of this glycosylated protein to investigate the effects of different induction methods on the structure and properties of the gels produced by MGSIs. Moreover, the effects of different induction methods on the structure and properties of the gels produced by MGSI were investigated. SDS-PAGE protein electrophoresis, FTIR spectroscopy, and endogenous fluorescence spectroscopy revealed that all three inductions result in the covalent bond cross-linking of MGSI during the gel formation process. Compared with thermal induction, the TGase-induced MGSI secondary structure had a higher content of β-folded structures, increased fluorescence intensity of tertiary structures, and produced a red shift. The gel induced by TGase in collaboration with MgCl2 contains a more β-folded structure and irregular curl and increases the β-turned angle and α-helix content further, the endogenous fluorescence λmax is significantly red-shifted, and the fluorescence intensity increases, demonstrating that the tertiary structure of MGSI unfolds the most, forming multilayered gels with the tightest structures. The three gels were analyzed by rheology and SEM, showing that the TGase-MgCl2 synergistically induced gel had the highest energy-storage modulus G’, viscoelasticity, and water-holding capacity, as well as the densest gel structure. In conclusion, the combined treatment of enzyme and MgCl2 might be an effective way of improving the structure and gel properties of SPI. This study helps to promote the high-value utilization of SPI and the development of plant protein gels

Identification of a Novel Angiogenesis Signalling circSCRG1/miR-1268b/NR4A1 Pathway in Atherosclerosis and the Regulatory Effects of TMP-PF In Vitro

Angiogenesis contributes to plaque instability in atherosclerosis and further increases cardio-cerebrovascular risk. Circular RNAs (circRNAs) are promising biomarkers and potential therapeutic targets for atherosclerosis. Previous studies have demonstrated that tetramethylpyrazine (TMP) and paeoniflorin (PF) combination treatment (TMP-PF) inhibited oxidized low-density lipoprotein (ox-LDL)-induced angiogenesis in vitro. However, whether circRNAs regulate angiogenesis in atherosclerosis and whether TMP-PF can regulate angiogenesis-related target circRNAs in atherosclerosis are unknown. In this study, human RNA sequencing (RNA-seq) data were analysed to identify differentially expressed (DE) circRNAs in atherosclerosis and to obtain angiogenesis-associated circRNA-microRNA (miRNA)-messenger RNA (mRNA) networks. Target circRNA-related mechanisms in angiogenesis in atherosclerosis and the regulatory effects of TMP-PF on target circRNA signalling were studied in ox-LDL-induced human umbilical vein endothelial cells (HUVECs) by cell proliferation, migration, tube formation, and luciferase reporter assays, real-time quantitative polymerase chain reaction (RT-qPCR) and Western blotting. A novel circRNA (circular stimulator of chondrogenesis 1, circSCRG1) was initially identified associated with angiogenesis in atherosclerosis, and circSCRG1 silencing up-regulated miR-1268b expression, increased nuclear receptor subfamily 4 group A member 1 (NR4A1) expression and then promoted ox-LDL-induced angiogenesis. TMP-PF (1 μmol/L TMP combined with 10 μmol/L PF) up-regulated circSCRG1 expression, mediated miR-1268b to suppress NR4A1 expression and then inhibited ox-LDL-induced angiogenesis. However, circSCRG1 silencing abolished the inhibitory effects of TMP-PF on ox-LDL-induced angiogenesis, which were rescued by the miR-1268b inhibitor. In conclusion, circSCRG1 might serve as a new target regulating angiogenesis in atherosclerosis via the circSCRG1/miR-1268b/NR4A1 axis and TMP-PF could regulate the circSCRG1/miR-1268b/NR4A1 axis to inhibit angiogenesis in atherosclerosis in vitro, indicating a novel angiogenesis signalling circSCRG1/miR-1268b/NR4A1 pathway in atherosclerosis and the regulatory effects of TMP-PF, which might provide a new pharmaceutical strategy to combat atherosclerotic plaque instability

Polarization-independent and high-efficiency broadband optical absorber in visible light based on nanostructured germanium arrays

A broadband optical absorber based on the nanostructured germanium (Ge) film composed of single-sized circular nanodisk–nanohole arrays is proposed, which demonstrates high efficiency, strong polarization independence, and large viewing angle. Due to the electric and magnetic resonance absorption modes excited by the nanostructure arrays in highly lossy Ge film, the absorber obtains a high absorptivity, reaching above 90% over the full visible wavelength, and it can be maintained well at a large viewing angle over 50°. Based on the geometrical symmetry, the absorber is proved to be polarization independent. Moreover, the simple single-sized nanostructure within a certain size tolerance decreases the design and fabrication complexity. The structural configuration with a slight Ge sidewall formed in the nanofabrication process could enhance the overall light absorption. These results indicate that the proposed broadband absorber has great potential in various applications such as anti-reflective coating and perfect cloaking

Association between Cross-Cultural Social Adaptation and Overseas Life Satisfaction among Chinese Medical Aid Team Members (CMATMs) in Africa

This study evaluated the relationship between cross-cultural social adaptation and overseas life satisfaction among Chinese medical aid team members (CMATMs) in Africa. A revised Chinese version of the Sociocultural Adaptation Scale (CSCAS) was used to measure participants&#8217; cross-cultural social adaptation. The self-designed survey of the CMATMs&#8217; overseas life satisfaction includes the following five aspects: food, housing, transportation, entertainment, and security. Electronic questionnaires were distributed non-randomly. Linear regression models were established to explore the association between cross-cultural social adaptation and all dimensions of overseas life satisfaction. After adjusting all the confounders, compared with moderate adaptation, poor adaptation was negatively correlated with all dimensions of overseas life satisfaction (B for food = &#8722;0.71, B for housing = &#8722;0.76, B for transportation = &#8722;0.70, B for entertainment = &#8722;0.53, B for security = &#8722;0.81, B for overall satisfaction = &#8722;0.71, all p &lt; 0.001), whereas good adaptation was positively associated with all dimensions of overseas life satisfaction (B for food = 1.23, B for housing = 1.00, B for transportation = 0.84, B for entertainment = 0.84, B for security = 0.76, B for overall life satisfaction = 0.94, all p &lt; 0.001). This study shows that a better cross-cultural social adaptation was positively connected to a higher level of overseas life satisfaction in general, and more specifically to higher levels of satisfaction with food, housing, transportation, entertainment, and security. This knowledge can be utilized in promoting cross-cultural social adaptation and overseas life satisfaction among CMATMs in Africa

Lymphocyte Oxidative Stress/Genotoxic Effects Are Related to Serum IgG and IgA Levels in Coke Oven Workers

We investigated oxidative stress/genotoxic effects levels, immunoglobulin levels, polycyclic aromatic hydrocarbons (PAHs) levels exposed in 126 coke oven workers and in 78 control subjects, and evaluated the association between oxidative stress/genotoxic effects levels and immunoglobulin levels. Significant differences were observed in biomarkers, including 1-hydroxypyrene levels, employment time, percentages of alcohol drinkers, MDA, 8-OHdG levels, CTL levels and CTM, MN, CA frequency, and IgG, IgA levels between the control and exposed groups. Slightly higher 1-OHP levels in smoking users were observed. For the dose-response relationship of IgG, IgA, IgM, and IgE by 1-OHP, each one percentage increase in urinary 1-OHP generates a 0.109%, 0.472%, 0.051%, and 0.067% decrease in control group and generates a 0.312%, 0.538%, 0.062%, and 0.071% decrease in exposed group, respectively. Except for age, alcohol and smoking status, IgM, and IgE, a significant correlation in urinary 1-OHP and other biomarkers in the total population was observed. Additionally, a significant negative correlation in genotoxic/oxidative damage biomarkers of MDA, 8-OH-dG, CTL levels, and immunoglobins of IgG and IgA levels, especially in coke oven workers, was found. These data suggest that oxidative stress/DNA damage induced by PAHs may play a role in toxic responses for PAHs in immunological functions

Analysis of the performances of the CFD schemes used for coupling computation

In this paper, the coupling of fine-mesh computational fluid dynamics (CFD) thermal-hydraulics (TH) code and neutronics code is achieved using the Ansys Fluent User Defined Function (UDF) for code development, including parallel meshing mapping, data computation, and data transfer. Also, some CFD schemes are designed for mesh mapping and data transfer to guarantee physical conservation in the coupling computation. Because there is no rigorous research that gives robust guidance on the various CFD schemes that must be obtained before the fine-mesh coupling computation, this work presents a quantitative analysis of the CFD meshing and mapping schemes to improve the accuracy of the value and location of key physical prediction. Furthermore, the effect of the sub-pin scale coupling computation is also studied. It is observed that even the pin-resolved coupling computation can also create a large deviation in the maximum value and spatial locations, which also proves the significance of the research on mesh mapping and data transfer for CFD code in a coupling computation

Rapid Identification of Different Grades of Huangshan Maofeng Tea Using Ultraviolet Spectrum and Color Difference

Tea is an important beverage in humans&rsquo; daily lives. For a long time, tea grade identification relied on sensory evaluation, which requires professional knowledge, so is difficult and troublesome for laypersons. Tea chemical component detection usually involves a series of procedures and multiple steps to obtain the final results. As such, a simple, rapid, and reliable method to judge the quality of tea is needed. Here, we propose a quick method that combines ultraviolet (UV) spectra and color difference to classify tea. The operations are simple and do not involve complex pretreatment. Each method requires only a few seconds for sample detection. In this study, famous Chinese green tea, Huangshan Maofeng, was selected. The traditional detection results of tea chemical components could not be used to directly determine tea grade. Then, digital instrument methods, UV spectrometry and colorimetry, were applied. The principal component analysis (PCA) plots of the single and combined signals of these two instruments showed that samples could be arranged according to grade. The combined signal PCA plot performed better with the sample grade descending in clockwise order. For grade prediction, the random forest (RF) model produced a better effect than the support vector machine (SVM) and the SVM + RF model. In the RF model, the training and testing accuracies of the combined signal were all 1. The grades of all samples were correctly predicted. From the above, the UV spectrum combined with color difference can be used to quickly and accurately classify the grade of Huangshan Maofeng tea. This method considerably increases the convenience of tea grade identification