Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

Auditory neuropathy is a particular type of hearing impairment in which neural transmission of the auditory signal is impaired, while cochlear outer hair cells remain functional. Here we report on DFNB59, a newly identified gene on chromosome 2q31.1-q31.3 mutated in four families segregating autosomal recessive auditory neuropathy. DFNB59 encodes pejvakin, a 352-residue protein. Pejvakin is a paralog of DFNA5, a protein of unknown function also involved in deafness. By immunohistofluorescence, pejvakin is detected in the cell bodies of neurons of the afferent auditory pathway. Furthermore, Dfnb59 knock-in mice, homozygous for the R183W variant identified in one DFNB59 family, show abnormal auditory brainstem responses indicative of neuronal dysfunction along the auditory pathway. Unlike previously described sensorineural deafness genes, all of which underlie cochlear cell pathologies, DFNB59 is the first human gene implicated in nonsyndromic deafness due to a neuronal defect.     

Purification and cloning of amyloid precursor protein beta-secretase from human brain

Proteolytic processing of the amyloid precursor protein (APP) generates amyloid beta (Abeta) peptide, which is thought to be causal for the pathology and subsequent cognitive decline in Alzheimer's disease. Cleavage by beta-secretase at the amino terminus of the Abeta peptide sequence, between residues 671 and 672 of APP, leads to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated carboxy-terminal fragment. Cleavage of the C-terminal fragment by gamma-secretase(s) leads to the formation of Abeta. The pathogenic mutation K670M671-->N670L671 at the beta-secretase cleavage site in APP, which was discovered in a Swedish family with familial Alzheimer's disease, leads to increased beta-secretase cleavage of the mutant substrate. Here we describe a membrane-bound enzyme activity that cleaves full-length APP at the beta-secretase cleavage site, and find it to be the predominant beta-cleavage activity in human brain. We have purified this enzyme activity to homogeneity from human brain using a new substrate analogue inhibitor of the enzyme activity, and show that the purified enzyme has all the properties predicted for beta-secretase. Cloning and expression of the enzyme reveals that human brain beta-secretase is a new membrane-bound aspartic proteinase.     

Towards sustainability in world fisheries

Fisheries have rarely been 'sustainable'. Rather, fishing has induced serial depletions, long masked by improved technology, geographic expansion and exploitation of previously spurned species lower in the food web. With global catches declining since the late 1980s, continuation of present trends will lead to supply shortfall, for which aquaculture cannot be expected to compensate, and may well exacerbate. Reducing fishing capacity to appropriate levels will require strong reductions of subsidies. Zoning the oceans into unfished marine reserves and areas with limited levels of fishing effort would allow sustainable fisheries, based on resources embedded in functional, diverse ecosystems.     

乳腺癌血清多肽图研究

乳腺癌一直是全世界范围内威胁妇女健康的恶性疾病, 尽管人们已经进行了大量的研究以减少乳腺癌对人类的危害, 但是乳腺癌仍然是目前导致死亡的恶性肿瘤之一. 乳腺癌的早期发现对于患者的愈后与生存意义重大, 可以明显提高病人生存时间、降低病人的死亡率. 据统计, 在过去的5年里, 早期诊断每年可减少3.2%因乳腺癌死亡的患者. 然而研究表明, 目前常用的乳腺癌诊断技术, 如乳腺X射线摄影和乳房检查均无法诊断出40%的早期乳癌患者和大多数年轻女性的乳腺肿瘤. 因此在乳腺癌临床治疗中, 急需发展新型的高效诊断技术.     

Far-infrared Absorption Spectra and Properties of SnO2 Nanorods

Nanostructured materials have drawn considerable attention because they are promising candidates for nextgeneration electronic and photonic devices with low power consumption[1-5]. A number of methods, such as laser ablation[6], template-induced growth[7], arc discharge [8], vapor transport [9], and molecular-beam epitaxy[10] have been developed to synthesize Si, Ge, MgO,SnO2, GaN, and Ga2O3 nanowires or nanorods[11-15].     

关于大型科研仪器共享问题的一个产权理论解释

大型科研仪器的共享问题是我国科技资源配置和管理工作中面临的重要问题,现有研究和对策主要集中于促进共享理念的传播、加强共享效率的考核以及仪器中心等共享机制的建设方面,但对于为什么存在共享障碍等基本问题缺少关注。本文以经济学中的产权理论为基础,从大型科研仪器所有权与控制权分离的现实出发,探讨了当前我国仪器共享中存在的利益冲突和机制障碍。在此基础上,借鉴发达国家的一些做法,提出从仪器资助体制出发解决仪器共享问题的新思路。     

卫星低频电磁辐射在轨探测研究

利用地球空间探测双星计划探测一号卫星上的磁场波动分析仪的原始数据, 分析了探测一号卫星在轨电磁辐射的特性. 结果显示卫星的电磁辐射主要集中在30 Hz以下. 在30 Hz以上, 卫星的电磁辐射最多延伸到 190 Hz左右, 而且强度明显减弱. 在 190 Hz以下的卫星电磁辐射具有与卫星姿态相关的长周期变化. 在 190~830 Hz的范围的电磁辐射有不明显的长周期变化特征. 830~3990 Hz范围的电磁辐射没有长周期变化特征. 卫星电磁辐射的长周期变化是由卫星姿态变化造成的. 卫星姿态变化引起卫星太阳方位角变化. 卫星太阳方位角越大, 卫星电磁辐射越大. 卫星太阳方位角从90.6增加到93.6, 低于10 Hz以下的电磁辐射约增大为原来的9倍, 10~190 Hz范围的电磁辐射大约增加到原来的1.6倍. 卫星在＜10和10~190 Hz范围内的电磁辐射强度与卫星太阳方位角的相关系数分别达到0.90和0.91. 卫星在光照情况下的电磁辐射要比卫星在阴影情况下大. 卫星太阳能帆板电流产生的电磁辐射是卫星电磁辐射主要来源, 约占整个卫星电磁辐射的87％(低频段<150 Hz)和94％(高频段>150 Hz). 这些中国首次对卫星电磁辐射的在轨探测结果对于我国未来相关科学和应用卫星的设计方案的优化具有重要的参考价值.     

重载流多芯电缆周围的磁场 Ⅰ. 理论模型

多芯电力电缆在低压配电系统中常被用作配电干线，这种重载流电缆周围的极低频磁场可能干扰附近敏感电子设备的正常运行，甚至影响暴露于该场下的人体的健康，为分析这种磁场的分布特性，建立了多芯电缆周围磁场的载流平行螺旋线模型，并推导了周围磁场的简化计算公式，基于所提出的理想模型对电缆周围电磁的特性进行了分析，发现在电缆的半径方向上磁场随距离衰减的速度大于指数衰减速度，在平行于电缆轴线的直线上和在电缆抽轴圆周线上，磁场的幅值和相角都随观测点的位置周期变化，理论计算结果表明，常用规格的多芯电力电缆在载额定电流的情况下，距电缆2m外空间中的磁场已小于有关国际标准的限值。     

Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry

A library of 50,000 recombinants representative of the human X chromosome has been constructed. Human X chromosomes were physically separated using a fluorescence-activated cell sorter. The DNA was purified from the chromosomes, digested to completion with the restriction enzyme EcoRI and cloned into the phage lambda gtWES.lambda B. The X-derived nature of the recombinants was confirmed by hybridization to rodent/human cell line DNA containing only the human X chromosome. Such libraries will be particularly useful for the investigation of genetic diseases such as Duchenne muscular dystrophy, where the basic defect has not been elucidated, and of neoplasia, where several specific chromosomal anomalies, particularly for the leukaemias, have been identified.