Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Leber congenital amaurosis (LCA) is a blinding retinal disease that presents within the first year after birth. Using exome sequencing, we identified mutations in the nicotinamide adenine dinucleotide (NAD) synthase gene NMNAT1 encoding nicotinamide mononucleotide adenylyltransferase 1 in eight families with LCA, including the family in which LCA was originally linked to the LCA9 locus. Notably, all individuals with NMNAT1 mutations also have macular colobomas, which are severe degenerative entities of the central retina (fovea) devoid of tissue and photoreceptors. Functional assays of the proteins encoded by the mutant alleles identified in our study showed that the mutations reduce the enzymatic activity of NMNAT1 in NAD biosynthesis and affect protein folding. Of note, recent characterization of the slow Wallerian degeneration (Wld(s)) mouse model, in which prolonged axonal survival after injury is observed, identified NMNAT1 as a neuroprotective protein when ectopically expressed. Our findings identify a new disease mechanism underlying LCA and provide the first link between endogenous NMNAT1 dysfunction and a human nervous system disorder.     

外汇欧式期权在市场不完备下的对冲误差分析

本文研究了外汇欧式期权的对冲误差问题,针对典型的静态和动态Delta对冲策略,在对冲过程不连续和利率平价公式不成立的市场不完备情形下,给出了即期对冲和远期对冲的对冲误差公式,从而能够更准确地衡量实际对冲组合产生的风险.在研究Delta对冲策略过程中,本文提出了一个包含摩擦系数ε的外汇远期汇率模型,并通过分析即期对冲和远期对冲的差异,给出了最优对冲方式的判别条件.该判别条件依赖于摩擦系数ε,做市商仅通过对摩擦系数ε实时的监控,便可以选择最优的风险对冲方式,从而提高了对冲效率.本文提出的对冲误差的具体解析式和最优对冲方式的判别条件为外汇期权对冲及其风险管理提供了理论依据.实证结果表明,本文提出的期望收益差与实际对冲组合的收益差基本一致,从而验证了判别条件的合理性.     

Nine new species of the subgenus Stegana (Oxyphortica) from the Oriental region,with morphological and molecular evidence based on Chinese species (Diptera: Drosophilidae)

Nine new species of the subgenus Stegana (Oxyphortica) have been discovered from the Oriental Region: S. (O.) chuanjiangi Zhang and Chen, sp. nov., S (O.) dainuo Wang and Chen, sp. nov., S. (O.) dawa Zhang and Chen, sp. nov., S. (O.) laohlie Zhang and Chen, sp. nov., S. (O.) luchun Wang and Chen, sp. nov., S. (O.) mengwan Wang and Chen, sp. nov., S. (O.) triodonta Cheng and Chen, sp. nov. from southern China; S. (O.) dehiscens Cheng and Chen, sp. nov. and S. (O.) spinosa Cheng and Chen, sp. nov. from eastern Malaysia. One newly recorded species from China: S. (O.) maichouensis Sidorenko is re-described. The DNA sequences of the mitochondrial COI gene with BOLD Process ID and GenBank accession numbers are provided for the above seven new species and five known species from China: S. (O.) acutipenis Xu, Gao and Chen, S. (O.) adentata Toda and Peng, S. (O.) hirtipenis Xu, Gao and Chen, S. (O.) latipenis Xu, Gao and Chen, and S. (O.) maichouensis Sidorenko. Intra- and interspecific pairwise K-2P distances among these species are summarized and the phylogenetic relationships are reconstructed based on the neighbour-joining (NJ) analyses.

www.zoobank.org/urn:lsid:zoobank.org:pub:2FA403F6-5535-40A4-9FD0-ADB9913EDE83.     

Germline-specific dgcr8 knockout in zebrafish using a BACK approach

Zebrafish is an important model to study developmental biology and human diseases. However, an effective approach to achieve spatial and temporal gene knockout in zebrafish has not been well established. In this study, we have developed a new approach, namely bacterial artificial chromosome-rescue-based knockout (BACK), to achieve conditional gene knockout in zebrafish using the Cre/loxP system. We have successfully deleted the DiGeorge syndrome critical region gene 8 (dgcr8) in zebrafish germ line and demonstrated that the maternal-zygotic dgcr8 (MZdgcr8) embryos exhibit MZdicer-like phenotypes with morphological defects which could be rescued by miR-430, indicating that canonical microRNAs play critical role in early development. Our findings establish that Cre/loxP-mediated tissue-specific gene knockout could be achieved using this BACK strategy and that canonical microRNAs play important roles in early embryonic development in zebrafish.     

基于拉格朗日系统中约束力思想的编队卫星构形非线性控制方法

借鉴经典动力学中约束力的思想,提出了一种编队卫星构形精确保持的非线性控制方法．该方法首先将非线性和摄动条件下编队卫星构形保持问题转换为带有完整约束的拉格朗日动力学系统,然后将问题转换为一组微分代数方程,通过求解微分代数方程,确定编队卫星构形保持的非线性控制律．由于借鉴了约束力的思想,该方法自然地利用了编队卫星动力学系统的力学特性,具有节省能量和高精度的特点．通过对线性和非线性条件下空间圆编队卫星构形保持问题的仿真,验证了提出的非线性控制方法的这些特性．     

WO3丙酮传感器及其多传感器融合技术的研究

高浓度丙酮会刺激黏膜和引起中毒,在医疗健康领域丙酮也可作为呼出气体标记物。为实现对丙酮气体的有效检测,利用WO₃纳米材料制备旁热式气敏传感器,系统测试该传感器的基本特性,并在此基础上与SnO₂传感器组成双气敏传感器阵列,结合反向传播神经网络方法对丙酮混合气体进行识别。在体积浓度10^-5丙酮气体测试中,WO₃丙酮传感器的响应值达到9.3,响应与恢复时间均为4 s,重复性误差小于10^-8;双气敏传感器阵列对混合气体中丙酮和乙醇的识别误差小于10^-8。结果表明,制备的WO₃传感器响应灵敏度、稳定性、选择性、瞬态响应等特性良好,采用多传感器融合技术可以实现混合气体的有效识别。     

基于数据手套的逼真虚拟手的实现

在基于头盔、数据手套的虚拟现实系统中虚拟手的实现效果十分重要,传统的虚拟手模型将手掌和各手指分割为多个刚体,当虚拟手运动时在刚体连接处产生重叠或裂缝,严重影响了沉浸感。在此根据虚拟手的运动特点对其进行整体建模,并快捷地对数据手套采集的原始关节数据进行校正,在可编程图形硬件上利用顶点混合算法将校正后的数据作用于虚拟手模型来产生皮肤变形,在满足实时性的同时提供了逼真的视觉效果。最后还通过搭建实验系统验证了所述方法的可行性。     

Gene silencing in cancer by histone H3 lysine 27 trimethylation independent of promoter DNA methylation

Epigenetic silencing in cancer cells is mediated by at least two distinct histone modifications, polycomb-based histone H3 lysine 27 trimethylation (H3K27triM) and H3K9 dimethylation. The relationship between DNA hypermethylation and these histone modifications is not completely understood. Using chromatin immunoprecipitation microarrays (ChIP-chip) in prostate cancer cells compared to normal prostate, we found that up to 5% of promoters (16% CpG islands and 84% non-CpG islands) were enriched with H3K27triM. These genes were silenced specifically in prostate cancer, and those CpG islands affected showed low levels of DNA methylation. Downregulation of the EZH2 histone methyltransferase restored expression of the H3K27triM target genes alone or in synergy with histone deacetylase inhibition, without affecting promoter DNA methylation, and with no effect on the expression of genes silenced by DNA hypermethylation. These data establish EZH2-mediated H3K27triM as a mechanism of tumor-suppressor gene silencing in cancer that is potentially independent of promoter DNA methylation.     

通过课堂观察探究独立学院英语课堂中的互动模式

文章通过定性研究的方法,以作者工作的独立学院的非英语专业学生为研究对象,对英语课堂中的互动教学模式进行探讨.首先,作者通过访谈,了解适合独立学院学生的英语课堂互动模式;其次,结合教师的观察日志和学生的日记反馈、分析他们在各种英语课堂互动模式中的表现,以便在独立学院英语教学中准确恰当地运用课堂互动模式,激发学生的学习动机、端正学生的学习态度,提高学生的语言综合应用能力.     

Differentiated cells are more efficient than adult stem cells for cloning by somatic cell nuclear transfer

Since the creation of Dolly via somatic cell nuclear transfer (SCNT), more than a dozen species of mammals have been cloned using this technology. One hypothesis for the limited success of cloning via SCNT (1%-5%) is that the clones are likely to be derived from adult stem cells. Support for this hypothesis comes from the findings that the reproductive cloning efficiency for embryonic stem cells is five to ten times higher than that for somatic cells as donors and that cloned pups cannot be produced directly from cloned embryos derived from differentiated B and T cells or neuronal cells. The question remains as to whether SCNT-derived animal clones can be derived from truly differentiated somatic cells. We tested this hypothesis with mouse hematopoietic cells at different differentiation stages: hematopoietic stem cells, progenitor cells and granulocytes. We found that cloning efficiency increases over the differentiation hierarchy, and terminally differentiated postmitotic granulocytes yield cloned pups with the greatest cloning efficiency.