A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis

To identify susceptibility loci for ankylosing spondylitis, we performed a two-stage genome-wide association study in Han Chinese. In the discovery stage, we analyzed 1,356,350 autosomal SNPs in 1,837 individuals with ankylosing spondylitis and 4,231 controls; in the validation stage, we analyzed 30 suggestive SNPs in an additional 2,100 affected individuals and 3,496 controls. We identified two new susceptibility loci between EDIL3 and HAPLN1 at 5q14.3 (rs4552569; P = 8.77 × 10(-10)) and within ANO6 at 12q12 (rs17095830; P = 1.63 × 10(-8)). We also confirmed previously reported associations in Europeans within the major histocompatibility complex (MHC) region (top SNP, rs13202464; P < 5 × 10(-324)) and at 2p15 (rs10865331; P = 1.98 × 10(-8)). We show that rs13202464 within the MHC region mainly represents the risk effect of HLA-B*27 variants (including HLA-B*2704, HLA-B*2705 and HLA-B*2715) in Chinese. The two newly discovered loci implicate genes related to bone formation and cartilage development, suggesting their potential involvement in the etiology of ankylosing spondylitis.     

A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation

Autosomal dominant polycystic liver disease results from mutations in PRKCSH or SEC63. The respective gene products, glucosidase IIβ and SEC63p, function in protein translocation and quality control pathways in the endoplasmic reticulum. Here we show that glucosidase IIβ and Sec63p are required in mice for adequate expression of a functional complex of the polycystic kidney disease gene products, polycystin-1 and polycystin-2. We find that polycystin-1 is the rate-limiting component of this complex and that there is a dose-response relationship between cystic dilation and levels of functional polycystin-1 following mutation of Prkcsh or Sec63. Reduced expression of polycystin-1 also serves to sensitize the kidney to cyst formation resulting from mutations in Pkhd1, the recessive polycystic kidney disease gene. Finally, we show that proteasome inhibition increases steady-state levels of polycystin-1 in cells lacking glucosidase IIβ and that treatment with a proteasome inhibitor reduces cystic disease in orthologous gene models of human autosomal dominant polycystic liver disease.     

Drosophila Piwi functions in Hsp90-mediated suppression of phenotypic variation

Canalization, also known as developmental robustness, describes an organism's ability to produce the same phenotype despite genotypic variations and environmental influences. In Drosophila, Hsp90, the trithorax-group proteins and transposon silencing have been previously implicated in canalization. Despite this, the molecular mechanism underlying canalization remains elusive. Here using a Drosophila eye-outgrowth assay sensitized by the dominant Kr(irregular facets-1)(Kr(If-1)) allele, we show that the Piwi-interacting RNA (piRNA) pathway, but not the short interfering RNA or micro RNA pathway, is involved in canalization. Furthermore, we isolated a protein complex composed of Hsp90, Piwi and Hop, the Hsp70/Hsp90 organizing protein homolog, and we demonstrated the function of this complex in canalization. Our data indicate that Hsp90 and Hop regulate the piRNA pathway through Piwi to mediate canalization. Moreover, they point to epigenetic silencing of the expression of existing genetic variants and the suppression of transposon-induced new genetic variation as two major mechanisms underlying piRNA pathway-mediated canalization.     

乌苏里江水深遥感反演

文中在分析卫星遥感测深机理的基础上,利用SVCHR-1024高光谱成像仪确定了可见光反演水深的最佳波段,通过对HJ星CCD数据各波段反射率、波段比值组合对水体、水深的敏感性分析,建立了适合于乌苏里江的单波段对数水深反演模型,从而快速获取乌苏里江河道地形信息,并探测了河道深泓线,整体精度达到80%以上.遥感反演水深可快速探测河道深泓线的方法,为乌苏里江河势演变研究提供了新的思路.     

基于宽带WR10十字转门连接器的直接式收发器设计

设计了一种基于十字转门连接器的波导直接式收发器,并测试应用于WR10波段.运用有限元素分析法（一种仿真软件）使这种设计达到了优化,并用毫米波矢量网络分析仪检测了这种波导直接式收发转换器的性能,发现在WR10波段下可以获得正常工作状态下-22 dB的平均回波损耗和-45 dB水平的绝缘性能.     

激光作用生成的纳晶硅与氧化硅界面态发光模型

我们结合量子受限效应,提出纳硅晶与氧化硅界面态发光模型来解释激光作用生成的纳米网孔壁结构的强荧光效应.将功率为50W、波长为1 064nm的YAG激光束(束斑直径0.05mm)照射在硅样品表面打出小孔,在孔内的侧壁上,有很特殊的网孔形结构,其中的网孔壁厚为纳米尺度,这里有很强的受激荧光发光效应,发光峰中心约在700nm处.我们将激光与硅样品的作用隔离于无氧化的环境里,分别比较了将硅样品浸入酒精、氢氟酸和水中的激光加工结果,其发光情况证实了该发光模型的真实性.优化激光加工的条件,我们获得了较强发光的样品.     

鸡油菌兼性腐生生长的初步研究

鸡油菌是外生菌根真菌,可通过对马尾松侵染形成共生体,本项研究发现鸡油菌还可以兼性腐生.在温度20～24℃、pH值5.5～6.0、松针马铃薯培养基等条件下,栽培当年就能获得大量子实体原基,为探讨鸡油菌培养与人工栽培奠定了基础.