CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

Cilia are essential for fertilization, respiratory clearance, cerebrospinal fluid circulation and establishing laterality. Cilia motility defects cause primary ciliary dyskinesia (PCD, MIM244400), a disorder affecting 1:15,000-30,000 births. Cilia motility requires the assembly of multisubunit dynein arms that drive ciliary bending. Despite progress in understanding the genetic basis of PCD, mutations remain to be identified for several PCD-linked loci. Here we show that the zebrafish cilia paralysis mutant schmalhans (smh(tn222)) encodes the coiled-coil domain containing 103 protein (Ccdc103), a foxj1a-regulated gene product. Screening 146 unrelated PCD families identified individuals in six families with reduced outer dynein arms who carried mutations in CCDC103. Dynein arm assembly in smh mutant zebrafish was rescued by wild-type but not mutant human CCDC103. Chlamydomonas Ccdc103/Pr46b functions as a tightly bound, axoneme-associated protein. These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated.     

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

RNA exosomes are multi-subunit complexes conserved throughout evolution and are emerging as the major cellular machinery for processing, surveillance and turnover of a diverse spectrum of coding and noncoding RNA substrates essential for viability. By exome sequencing, we discovered recessive mutations in EXOSC3 (encoding exosome component 3) in four siblings with infantile spinal motor neuron disease, cerebellar atrophy, progressive microcephaly and profound global developmental delay, consistent with pontocerebellar hypoplasia type 1 (PCH1; MIM 607596). We identified mutations in EXOSC3 in an additional 8 of 12 families with PCH1. Morpholino knockdown of exosc3 in zebrafish embryos caused embryonic maldevelopment, resulting in small brain size and poor motility, reminiscent of human clinical features, and these defects were largely rescued by co-injection with wild-type but not mutant exosc3 mRNA. These findings represent the first example of an RNA exosome core component gene that is responsible for a human disease and further implicate dysregulation of RNA processing in cerebellar and spinal motor neuron maldevelopment and degeneration.     

Genome-wide association study of flowering time and grain yield traits in a worldwide collection of rice germplasm

A high-density haplotype map recently enabled a genome-wide association study (GWAS) in a population of indica subspecies of Chinese rice landraces. Here we extend this methodology to a larger and more diverse sample of 950 worldwide rice varieties, including the Oryza sativa indica and Oryza sativa japonica subspecies, to perform an additional GWAS. We identified a total of 32 new loci associated with flowering time and with ten grain-related traits, indicating that the larger sample increased the power to detect trait-associated variants using GWAS. To characterize various alleles and complex genetic variation, we developed an analytical framework for haplotype-based de novo assembly of the low-coverage sequencing data in rice. We identified candidate genes for 18 associated loci through detailed annotation. This study shows that the integrated approach of sequence-based GWAS and functional genome annotation has the potential to match complex traits to their causal polymorphisms in rice.     

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.     

Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder

Transitional cell carcinoma (TCC) is the most common type of bladder cancer. Here we sequenced the exomes of nine individuals with TCC and screened all the somatically mutated genes in a prevalence set of 88 additional individuals with TCC with different tumor stages and grades. In our study, we discovered a variety of genes previously unknown to be mutated in TCC. Notably, we identified genetic aberrations of the chromatin remodeling genes (UTX, MLL-MLL3, CREBBP-EP300, NCOR1, ARID1A and CHD6) in 59% of our 97 subjects with TCC. Of these genes, we showed UTX to be altered substantially more frequently in tumors of low stages and grades, highlighting its potential role in the classification and diagnosis of bladder cancer. Our results provide an overview of the genetic basis of TCC and suggest that aberration of chromatin regulation might be a hallmark of bladder cancer.     

基于CBERS CCD数据的鹿洼煤矿塌陷区LUCC检测

本文基于多时相中巴地球资源卫星CBERS CCD数据,以鹿洼煤矿塌陷区为例,利用混合像元分解技术开展土地利用/覆盖变化LUCC检测.分别选取研究区域的2002年、2006年和2010年3个时相的CBERSCCD图像作为遥感数据源,将粒子群优化算法引入到端元提取中,基于线性光谱混合模型提取鹿洼煤矿塌陷区水体、建筑用地、农田和土壤4类地物信息,并对结果进行统计分析.LUCC检测结果表明,2002年至2010年间,鹿洼煤矿塌陷地面积逐年增加,造成大面积农田积水,导致无法进行作物耕种.最后,结合当地政府采取的塌陷地治理措施分析了土地利用变化情况.     

聚乙烯吡咯烷酮K30(PVP)微/纳米球的制备及其表征

以聚乙烯吡咯烷酮(PVP, K30)为原料, 将其配制成一定浓度的溶液, 采用电纺丝方法制备了一系列电纺产物. 通过扫描电镜(SEM)对产物形态表征. 研究了纺丝过程中溶液浓度对纺丝产物形态的影响. 结果表明, 在相同溶剂及实验条件下, 溶液浓度的影响起决定性作用, 只有一个定值才能获得单一的微纳米球.     

基于小波变换的X射线图像边缘检测方法

根据X射线图像本身的特点,利用小波分析将图像的边缘有效分离开来,用canny边缘检测算子提取图像边缘,实验证明它是一种检测X射线图像边缘的有效方法.     

桂林植物园的专类园建设方法和特点

介绍桂林植物园中奇珍植物精品园、桂花园、金花茶园、珍稀濒危植物园、棕榈苏铁区和裸子植物区等9个专类园新建或改造的方法,其中建园用地尽量保持原有地形地貌,避免大的地形改造,原有的乔木、灌木及草本植物尽量保留;目标植物主要是从野外引进,或到其它植物园、树木园引种;配景植物的选择和定植点的确定是根据全园的景观和生境要求进行;基础设施主要有园区道路、园景建筑、观赏性水池等;科普设施有科普橱窗、园区简介牌、植物标牌等.建成的各专类园在植物来源、收集、栽培、布置、景观建设等方面表现出严谨的科学性和多样性.