A systematic survey of loss-of-function variants in human protein-coding genes

Genome-sequencing studies indicate that all humans carry many genetic variants predicted to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy in the human genome. Here we apply stringent filters to 2951 putative LoF variants obtained from 185 human genomes to determine their true prevalence and properties. We estimate that human genomes typically contain ~100 genuine LoF variants with ~20 genes completely inactivated. We identify rare and likely deleterious LoF alleles, including 26 known and 21 predicted severe disease-causing variants, as well as common LoF variants in nonessential genes. We describe functional and evolutionary differences between LoF-tolerant and recessive disease genes and a method for using these differences to prioritize candidate genes found in clinical sequencing studies.     

Hydrogen isotopes in Eocene river gravels and paleoelevation of the Sierra Nevada

We determine paleoelevation of the Sierra Nevada, California, by tracking the effect of topography on precipitation, as recorded in hydrogen isotopes of kaolinite exposed in gold-bearing river deposits from the Eocene Yuba River. The data, compared with the modern isotopic composition of precipitation, show that about 40 to 50 million years ago the Sierra Nevada stood tall (>/=2200 meters), a result in conflict with proposed young surface uplift by tectonic and climatic forcing but consistent with the Sierra Nevada representing the edge of a pre-Eocene continental plateau.     

数字化进程中高校图书馆文献采访决策

作者从宏观和微观两方面论述了数字化进程中图书馆采访决策的依据，提出了一些数字图书馆采访决策建议。     

规模化猪场管理之我见

养猪场并不是规模越大养殖效益越高,二者并不成正比.因为在国内的养殖环境下,规模化猪场的存栏量、不同年龄段猪只的比例、猪场的环境、技术人员的管理水平等很多因素都会影响到养殖效益.目前笔者最深的一个体会是:规模化养殖场应该把环境提升为第一要素.     

交叉思维渗透模式在植物生理学教学中的应用与探索

在植物生理学教学中引入交叉思维渗透模式,通过案例探索与实践,探讨其实施意义、实施模式和效果评估,取得了初步成果。结果表明,交叉思维渗透模式能极大地调动学生的学习热情,培养学生的人文素养和科学思维方式与习惯,学会合作和创造,提高发现问题和解决问题的能力,以充分发挥其在培养农业院校创新性人才中的作用。     

高校新馆安装摄像监控系统应注意的细节问题

对高校图书馆新馆在设计安装摄像监控系统时,提出要注意的一些细节上的问题,从功能需求,摄像头选型、安装位置、录像保存时间等细节问题上提出诸多的注意事项,从而保证系统投入使用后能正常有效运行。     

浅析汉西林区森林状况与经营对策

森林经营,是以现有森林为基础,通过人为活动,调整森林结构,保障森林可持续经营利用,实现森林固有的生态功能,使其结构更加合理与稳定。只有建立更和谐、自然森林生态系统,才能有效的提高     

Photochemical degradation of acifluorfen in aqueous solution

To elucidate the photochemical behavior of diphenyl ether herbicides in superficial waters, the photodegradation of acifluorfen, 5-[2-chloro-4-(trifluoromethyl)phenoxy]-2-nitrobenzo?c acid (CAS Registry No. 50594-66-6), was studied in water and acetonitrile. All experiments were carried out under laboratory conditions using a solar simulator (xenon arc) or jacket Pyrex reaction cell equipped with a 125 W high-pressure mercury lamp. The calculated polychromatic quantum efficiencies (Phi(solvent)) of acifluorfen in different solvents are as follows (units are degraded molecules photon(-1)): Phi(water) = 10(-4), Phi(acetonitrile) = 10(-4), Phi(methanol) = 10(-4), and Phi(hexane) = 10(-2). The results obtained in this work are in good agreement with the literature value of monochromatic quantum yield. HPLC-MS analysis (APCI and ESI in positive and negative modes) was used to identify acifluorfen photoproducts. These results suggest that the photodegradation of acifluorfen proceeds via a number of reaction pathways: (1) decarboxylation, (2) dehalogenation, (3) substitution of chlorine group by hydroxyl or hydrogen groups, and (4) cleavage of ether linkage, giving phenols. Photorearrangement products were studied by other investigators. No such products were observed. In addition, it was found that the trifluoro functional group on acifluorfen was not affected by any transformation, and no products of a nitro group reduction were found.     

Telomerase activity in clinically normal dogs and dogs with malignant lymphoma

OBJECTIVES: To determine whether telomerase activity was present in lymph nodes, buffy coat, and serum samples from dogs with malignant lymphoma (ML) and in liver, lymph node, buffy coat, and serum samples from clinically normal dogs SAMPLE POPULATION: Tissue specimens and blood samples were obtained from 11 clinically normal adult dogs (age range, 1 to 4 years) and 14 client-owned dogs with ML. PROCEDURE: The telomere repeat amplification protocol assay was used to quantify telomerase activity in the tissues from clinically normal dogs and dogs with ML. RESULTS: Of 11 clinically normal dogs, 8 had lymph node samples, 5 had liver samples, and 1 had buffy coat samples with detectable telomerase activity. None of the serum samples from the clinically normal dogs had detectable telomerase activity. Of 14 dogs with ML, 9 had lymph node samples, 3 had buffy coat samples, and 1 had serum samples with measurable telomerase activity. CONCLUSIONS AND CLINICAL RELEVANCE: Telomerase activity was not specific to tumor cells and overlapped with that found in cells from clinically normal dogs. Telomerase activity in neoplastic lymph nodes was not substantially different from that found in lymph nodes from clinically normal dogs. The determination of telomerase activity cannot be used as a sole diagnostic test for cancer. Therapeutic modalities directed toward the telomerase enzyme may not be feasible in dogs, because somatic tissues from clinically normal dogs possess variable amounts of telomerase activity.