新疆少数民族中学"体育与健康"课程教学现状的调查与研究

本对新疆南、北疆、东疆地区和乌鲁木齐市的101所民族中学进行实地的调查研究，通过对各民族中学体育教学中大纲、教材、场地器材、汉语授课、男女生分班情况、教师培训、教学计划以及对课程改革的认识等方面的分析．进一步了解新疆各地区民族中学学校体育状况，特别是“体育与健康”课程实施后，各地区民族中学学校体育教学现状以及所面临的问题，旨在加快新疆少数民族中学的体育教学改革和《体育与健康》课程教学研究。为新疆教育主管部门制定实施“体育与健康”课程教学提供决策依据。     

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

The evolutionarily conserved planar cell polarity (PCP) pathway (or noncanonical Wnt pathway) drives several important cellular processes, including epithelial cell polarization, cell migration and mitotic spindle orientation. In vertebrates, PCP genes have a vital role in polarized convergent extension movements during gastrulation and neurulation. Here we show that mice with mutations in genes involved in Bardet-Biedl syndrome (BBS), a disorder associated with ciliary dysfunction, share phenotypes with PCP mutants including open eyelids, neural tube defects and disrupted cochlear stereociliary bundles. Furthermore, we identify genetic interactions between BBS genes and a PCP gene in both mouse (Ltap, also called Vangl2) and zebrafish (vangl2). In zebrafish, the augmented phenotype results from enhanced defective convergent extension movements. We also show that Vangl2 localizes to the basal body and axoneme of ciliated cells, a pattern reminiscent of that of the BBS proteins. These data suggest that cilia are intrinsically involved in PCP processes.     

对基因组测序的一项高投入风险

Celera公司对人类和其他几种复杂生物体的基因组测序的商业冒险，震动了国际人类基因组计划界；但是它能够赚钱吗？在美国华盛顿北郊的一栋不起眼的办公楼里，一家10个月前刚搬来的DeleraGenowics公司，准备成为世界上最大的基因组数据生产商。今年，它计划开始以一种真正的工业化规模生产出原初生物学数据并向世界销售。尽管Celera公司试图将他们得到的基本生物学知识转化为一种商业，公司总裁克雷格·文特尔（1．CndgVenter）承诺他将‘“公开”这项3亿美元以上的投资的第一项也是最重要的一项产品——人类基因组的DNA序列。非盈利性…     

Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation

The RGS proteins are GTPase activating proteins that accelerate the deactivation of G proteins in a variety of signalling pathways in eukaryotes. RGS9 deactivates the G proteins (transducins) in the rod and cone phototransduction cascades. It is anchored to photoreceptor membranes by the transmembrane protein R9AP (RGS9 anchor protein), which enhances RGS9 activity up to 70-fold. If RGS9 is absent or unable to interact with R9AP, there is a substantial delay in the recovery from light responses in mice. We identified five unrelated patients with recessive mutations in the genes encoding either RGS9 or R9AP who reported difficulty adapting to sudden changes in luminance levels mediated by cones. Standard visual acuity was normal to moderately subnormal, but the ability to see moving objects, especially with low-contrast, was severely reduced despite full visual fields; we have termed this condition bradyopsia. To our knowledge, these patients represent the first identified humans with a phenotype associated with reduced RGS activity in any organ.     

部门动态投资系数的求取方法探讨

本文从理论和实践两个方面对动态投入产出法中动态投资的概念、投资系数的求取等进行了研究,提出了部门动态投资系数的求取方法,即一次性投资与多次性投资的综合方法。在此基础上,还给出了投资系数的修正方法,分析了影响投资系数求取的因素。最后,给出了投资系数求取过程中的误差分析方法。     

NMNAT1 mutations cause Leber congenital amaurosis

Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration characterized by severe vision loss. Two-thirds of LCA cases are caused by mutations in 17 known disease-associated genes (Retinal Information Network (RetNet)). Using exome sequencing we identified a homozygous missense mutation (c.25G>A, p.Val9Met) in NMNAT1 that is likely to be disease causing in two siblings of a consanguineous Pakistani kindred affected by LCA. This mutation segregated with disease in the kindred, including in three other children with LCA. NMNAT1 resides in the previously identified LCA9 locus and encodes the nuclear isoform of nicotinamide mononucleotide adenylyltransferase, a rate-limiting enzyme in nicotinamide adenine dinucleotide (NAD(+)) biosynthesis. Functional studies showed that the p.Val9Met alteration decreased NMNAT1 enzyme activity. Sequencing NMNAT1 in 284 unrelated families with LCA identified 14 rare mutations in 13 additional affected individuals. These results are the first to link an NMNAT isoform to disease in humans and indicate that NMNAT1 mutations cause LCA.     

Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle

Here we describe two families with retinitis pigmentosa, a hereditary neurodegeneration of rod and cone photoreceptors in the retina. Affected family members were homozygous for loss-of-function mutations in IDH3B, encoding the beta-subunit of NAD-specific isocitrate dehydrogenase (NAD-IDH, or IDH3), which is believed to catalyze the oxidation of isocitrate to alpha-ketoglutarate in the citric acid cycle. Cells from affected individuals had a substantial reduction of NAD-IDH activity, with about a 300-fold increase in the K(m) for NAD. NADP-specific isocitrate dehydrogenase (NADP-IDH, or IDH2), an enzyme that catalyzes the same reaction, was normal in affected individuals, and they had no health problems associated with the enzyme deficiency except for retinitis pigmentosa. These findings support the hypothesis that mitochondrial NADP-IDH, rather than NAD-IDH, serves as the main catalyst for this reaction in the citric acid cycle outside the retina, and that the retina has a particular requirement for NAD-IDH.     

Passenger deletions generate therapeutic vulnerabilities in cancer

Inactivation of tumour-suppressor genes by homozygous deletion is a prototypic event in the cancer genome, yet such deletions often encompass neighbouring genes. We propose that homozygous deletions in such passenger genes can expose cancer-specific therapeutic vulnerabilities when the collaterally deleted gene is a member of a functionally redundant family of genes carrying out an essential function. The glycolytic gene enolase 1 (ENO1) in the 1p36 locus is deleted in glioblastoma (GBM), which is tolerated by the expression of ENO2. Here we show that short-hairpin-RNA-mediated silencing of ENO2 selectively inhibits growth, survival and the tumorigenic potential of ENO1-deleted GBM cells, and that the enolase inhibitor phosphonoacetohydroxamate is selectively toxic to ENO1-deleted GBM cells relative to ENO1-intact GBM cells or normal astrocytes. The principle of collateral vulnerability should be applicable to other passenger-deleted genes encoding functionally redundant essential activities and provide an effective treatment strategy for cancers containing such genomic events.     

诺贝尔奖:成功者的机会抑或危险?

诺贝尔奖的荣誉和奖金在驱使着获奖者,一些人因此完全离开了科学,而且几乎没有人依然保持着原来的生活方式——