Global variation in copy number in the human genome

Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be fully ascertained. We have constructed a first-generation CNV map of the human genome through the study of 270 individuals from four populations with ancestry in Europe, Africa or Asia (the HapMap collection). DNA from these individuals was screened for CNV using two complementary technologies: single-nucleotide polymorphism (SNP) genotyping arrays, and clone-based comparative genomic hybridization. A total of 1,447 copy number variable regions (CNVRs), which can encompass overlapping or adjacent gains or losses, covering 360 megabases (12% of the genome) were identified in these populations. These CNVRs contained hundreds of genes, disease loci, functional elements and segmental duplications. Notably, the CNVRs encompassed more nucleotide content per genome than SNPs, underscoring the importance of CNV in genetic diversity and evolution. The data obtained delineate linkage disequilibrium patterns for many CNVs, and reveal marked variation in copy number among populations. We also demonstrate the utility of this resource for genetic disease studies.     

A phosphatase complex that dephosphorylates gammaH2AX regulates DNA damage checkpoint recovery

One of the earliest marks of a double-strand break (DSB) in eukaryotes is serine phosphorylation of the histone variant H2AX at the carboxy-terminal SQE motif to create gammaH2AX-containing nucleosomes. Budding-yeast histone H2A is phosphorylated in a similar manner by the checkpoint kinases Tel1 and Mec1 (ref. 2; orthologous to mammalian ATM and ATR, respectively) over a 50-kilobase region surrounding the DSB. This modification is important for recruiting numerous DSB-recognition and repair factors to the break site, including DNA damage checkpoint proteins, chromatin remodellers and cohesins. Multiple mechanisms for eliminating gammaH2AX as DNA repair completes are possible, including removal by histone exchange followed potentially by degradation, or, alternatively, dephosphorylation. Here we describe a three-protein complex (HTP-C, for histone H2A phosphatase complex) containing the phosphatase Pph3 that regulates the phosphorylation status of gammaH2AX in vivo and efficiently dephosphorylates gammaH2AX in vitro. gammaH2AX is lost from chromatin surrounding a DSB independently of the HTP-C, indicating that the phosphatase targets gammaH2AX after its displacement from DNA. The dephosphorylation of gammaH2AX by the HTP-C is necessary for efficient recovery from the DNA damage checkpoint.     

关于亚纯函数的k阶导函数和有理函数(英文)

设f是复平面C内的超越亚纯函数,R是一个有理函数且R(■)0,k是一个正整数.并假设f的零点重级至少为k+1,至多有限个零点例外.则f~((k))-R有无限多个零点.     

亚纯函数的正规族

设为F区域D上亚纯函数簇,k∈Z^＋（k≥2）,m∈Z^＋,a≠0,b为两有穷复数,c（z）≠0为D上解析函数,Vf∈F,f（z）的零点之级≥m,并且f（z）在区域D上的极点总个数（计算重数）至多为m,f（z）=a→f＇（z）=b,f（z）=0→0→f＇（z）=c（z）,f＇（z）=c（z）→｜f^（k）（z）｜≤h,那么F在区域D内正规．     

Variable Selection for Clustering and Classification

As data sets continue to grow in size and complexity, effective and efficient techniques are needed to target important features in the variable space. Many of the variable selection techniques that are commonly used alongside clustering algorithms are based upon determining the best variable subspace according to model fitting in a stepwise manner. These techniques are often computationally intensive and can require extended periods of time to run; in fact, some are prohibitively computationally expensive for high-dimensional data. In this paper, a novel variable selection technique is introduced for use in clustering and classification analyses that is both intuitive and computationally efficient. We focus largely on applications in mixture model-based learning, but the technique could be adapted for use with various other clustering/classification methods. Our approach is illustrated on both simulated and real data, highlighted by contrasting its performance with that of other comparable variable selection techniques on the real data sets.     

Functional connectivity in the retina at the resolution of photoreceptors

To understand a neural circuit requires knowledge of its connectivity. Here we report measurements of functional connectivity between the input and ouput layers of the macaque retina at single-cell resolution and the implications of these for colour vision. Multi-electrode technology was used to record simultaneously from complete populations of the retinal ganglion cell types (midget, parasol and small bistratified) that transmit high-resolution visual signals to the brain. Fine-grained visual stimulation was used to identify the location, type and strength of the functional input of each cone photoreceptor to each ganglion cell. The populations of ON and OFF midget and parasol cells each sampled the complete population of long- and middle-wavelength-sensitive cones. However, only OFF midget cells frequently received strong input from short-wavelength-sensitive cones. ON and OFF midget cells showed a small non-random tendency to selectively sample from either long- or middle-wavelength-sensitive cones to a degree not explained by clumping in the cone mosaic. These measurements reveal computations in a neural circuit at the elementary resolution of individual neurons.     

基于前景理论的多目标灰色局势决策方法

鉴于决策者风险态度对多目标决策的影响,提出一种基于前景理论的多目标灰色局势决策方法。该方法首先利用奖优罚劣的线性变换算子对原始决策信息进行规范化处理,进而确定正负理想方案。基于前景理论和多目标灰色局势决策方法确定前景价值函数,并利用方案综合前景值最大化的多目标优化模型求解最优权向量,进而求得综合效果测度矩阵,而后采用区间数的可能度对每个事件的局势进行排序,最后通过实例验证了该模型的有效性和实用性。     

沉积氧压对RuVO2合金薄膜结构及MIT特性的影响研究

本工作采用脉冲激光沉积法,以c-Al_2O_3为衬底,金属钌(Ru)镶嵌金属钒(V)圆片作为靶材,高纯氧气为反应气体,在不同沉积氧压下制备出一系列RuVO_2合金薄膜.采用XRD、XPS、紫外-可见-近红外光谱仪、四探针测试仪等表征了薄膜的结构、成分及光电性能.实验结果表明:在不同沉积氧压下,薄膜均沿(010)晶面高度取向生长,薄膜的摇摆曲线半高宽在0. 050°～0. 091°之间,薄膜具有良好的结晶质量.低氧压(1. 5 Pa)下制备的RuVO_2薄膜成分严重偏离化学计量比而含有大量O空位缺陷.随着沉积氧压增大,薄膜化学成分接近化学计量比2∶1;在大于2. 4 Pa氧压条件下制备的薄膜都表现出显著的MIT特性,薄膜相变温度在50～55℃之间,在相变前后电阻率发生3个数量级的突变,同时对红外光展现出良好的调制能力,最高可达17%.氧压太高将降低薄膜沉积速率而不利于薄膜生长.