Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere

Contractions in the polymorphic D4Z4 repeat array of subtelomere 4qter cause autosomal dominant facioscapulohumeral muscular dystrophy in humans. A polymorphic segment of 10 kb directly distal to D4Z4 exists in two allelic forms, 4qA and 4qB. Although both alleles are equally common in the general population, we now report that FSHD is associated solely with the 4qA allele.     

Single-substrate liquid-crystal displays by photo-enforced stratification

Data visualization plays a crucial role in our society, as illustrated by the many displays that surround us. In the future, displays may become even more pervasive, ranging from individually addressable image-rendering wall hangings to data displays integrated in clothes. Liquid-crystal displays (LCDs) provide most of the flat-panel displays currently used. To keep pace with the ever-increasing possibilities afforded by developments in information technology, we need to develop manufacturing processes that will make LCDs cheaper and larger, with more freedom in design. Existing batch processes for making and filling LCD cells are relatively expensive, with size and shape limitations. Here we report a cost-effective, single-substrate technique in which a coated film is transformed into a polymer-covered liquid-crystal layer. This approach is based on photo-enforced stratification: a two-step photopolymerization-induced phase separation of a liquid-crystal blend and a polymer precursor. The process leads to the formation of micrometre-sized containers filled with a switchable liquid-crystal phase. In this way, displays can be produced on a variety of substrates using current coating technology. The developed process may be an important step towards new technologies such as 'display-on-anything' and 'paintable displays'.     

Parallel adaptive radiations in two major clades of placental mammals

Higher level relationships among placental mammals, as well as the historical biogeography and morphological diversification of this group, remain unclear. Here we analyse independent molecular data sets, having aligned lengths of DNA of 5,708 and 2,947 base pairs, respectively, for all orders of placental mammals. Phylogenetic analyses resolve placental orders into four groups: Xenarthra, Afrotheria, Laurasiatheria, and Euarchonta plus Glires. The first three groups are consistently monophyletic with different methods of analysis. Euarchonta plus Glires is monophyletic or paraphyletic depending on the phylogenetic method. A unique nine-base-pair deletion in exon 11 of the BRCA1 gene provides additional support for the monophyly of Afrotheria, which includes proboscideans, sirenians, hyracoids, tubulidentates, macroscelideans, chrysochlorids and tenrecids. Laurasiatheria contains cetartiodactyls, perissodactyls, carnivores, pangolins, bats and eulipotyphlan insectivores. Parallel adaptive radiations have occurred within Laurasiatheria and Afrotheria. In each group, there are aquatic, ungulate and insectivore-like forms.     

IBD sharing around the PPARG locus is not increased in dizygotic twins or their mothers

Busjahn et al reported finding linkage between PPARG (3p25) and being a dizygotic (DZ) twin. We differentiate, as do the authors, between the conception of DZ twins, and being the viable result of such a conception.     

Efficiency and ambiguity in an adaptive neural code

We examine the dynamics of a neural code in the context of stimuli whose statistical properties are themselves evolving dynamically. Adaptation to these statistics occurs over a wide range of timescales-from tens of milliseconds to minutes. Rapid components of adaptation serve to optimize the information that action potentials carry about rapid stimulus variations within the local statistical ensemble, while changes in the rate and statistics of action-potential firing encode information about the ensemble itself, thus resolving potential ambiguities. The speed with which information is optimized and ambiguities are resolved approaches the physical limit imposed by statistical sampling and noise.     

Integration of cytogenetic landmarks into the draft sequence of the human genome

We have placed 7,600 cytogenetically defined landmarks on the draft sequence of the human genome to help with the characterization of genes altered by gross chromosomal aberrations that cause human disease. The landmarks are large-insert clones mapped to chromosome bands by fluorescence in situ hybridization. Each clone contains a sequence tag that is positioned on the genomic sequence. This genome-wide set of sequence-anchored clones allows structural and functional analyses of the genome. This resource represents the first comprehensive integration of cytogenetic, radiation hybrid, linkage and sequence maps of the human genome; provides an independent validation of the sequence map and framework for contig order and orientation; surveys the genome for large-scale duplications, which are likely to require special attention during sequence assembly; and allows a stringent assessment of sequence differences between the dark and light bands of chromosomes. It also provides insight into large-scale chromatin structure and the evolution of chromosomes and gene families and will accelerate our understanding of the molecular bases of human disease and cancer.     

多项式微分系统的不变直线的不同斜率的最大个数

本文证明了公式β（ｎ）＝σ（ｎ－１）＋１其中α（ｎ－１）是ｎ－１次多项式微分系统的不为直线的最多条数，βｎ）是ｎ次多项式微分系统的不变直线的不同斜率的最大个数。这里假设所讨论的多项式系统只有限条不变直线。     

基于动态反馈补偿的随动系统特性分析

对一类具有动态反馈补偿的随动系统的特性进行了分析 理论分析和仿真结果均表明动态补偿方法是一种强有力的校正方法 适当地设计这种补偿器不仅可以在无法运用前馈补偿的场合实现等效Ⅱ型系统而且可以获得确当的频域特性指标     

用于预测水力裂缝缝高的新拟三维流场模型

针对原有拟三维流场模型在控层较差时预测缝高过大的问题 ,根据水力压裂裂缝延伸机理 ,基于原拟三维数值模型生成的初始裂缝几何形态 ,采用从假定虚源发出的呈放射状径向流动的近似二维流场 ,对原拟三维模型的一维流场进行了修正 ,建立了新的拟三维流场模型。实例计算表明 ,由于考虑了压裂液在缝高方向上的流动 ,在控层较差的情况下 ,新模型对缝高的预测精度可达到全三维的计算精度 ,这对水力压裂施工和设计有实用意义。