Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder characterized by complex eye and brain abnormalities with congenital muscular dystrophy (CMD) and aberrant a-dystroglycan glycosylation. Here we report mutations in the ISPD gene (encoding isoprenoid synthase domain containing) as the second most common cause of WWS. Bacterial IspD is a nucleotidyl transferase belonging to a large glycosyltransferase family, but the role of the orthologous protein in chordates is obscure to date, as this phylum does not have the corresponding non-mevalonate isoprenoid biosynthesis pathway. Knockdown of ispd in zebrafish recapitulates the human WWS phenotype with hydrocephalus, reduced eye size, muscle degeneration and hypoglycosylated a-dystroglycan. These results implicate ISPD in a-dystroglycan glycosylation in maintaining sarcolemma integrity in vertebrates.     

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 Chinese men identifies three risk loci for non-obstructive azoospermia

Non-obstructive azoospermia (NOA) is one of the most severe forms of male infertility. Its pathophysiology is largely unknown, and few genetic influences have been defined. To identify common variants contributing to NOA in Han Chinese men, we performed a three-stage genome-wide association study of 2,927 individuals with NOA and 5,734 controls. The combined analyses identified significant (P < 5.0 × 10(-8)) associations between NOA risk and common variants near PRMT6 (rs12097821 at 1p13.3: odds ratio (OR) = 1.25, P = 5.7 × 10(-10)), PEX10 (rs2477686 at 1p36.32: OR = 1.39, P = 5.7 × 10(-12)) and SOX5 (rs10842262 at 12p12.1: OR = 1.23, P = 2.3 × 10(-9)). These findings implicate genetic variants at 1p13.3, 1p36.32 and 12p12.1 in the etiology of NOA in Han Chinese men.     

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.     

铜-石墨复合材料性能与石墨形状和粒径的相关性研究

以电解铜粉、鳞片状石墨粉及不同粒径的近球形石墨粉为原料,通过真空热压烧结工艺制备得到铜-石墨复合材料,并研究石墨形状、粒径对其显微组织、密度、致密度、电导率、硬度及抗压强度等性能的影响;在销盘式摩擦磨损试验机上考察其摩擦磨损性能,通过分析样品磨损表面的形貌,研究石墨形状和粒径对复合材料摩擦磨损性能的影响。结果表明：相比鳞片状石墨粉,采用相同粒径的近球形石墨粉有利于提高复合材料的致密度,获得更优异的力学性能,其抗压强度可以提高近65 MPa;随着近球形石墨粒径从19 μm减小到4 μm,复合材料的致密度、电导率、硬度、抗压强度和摩擦因数均逐渐降低,同时磨损量逐渐增大,其中,复合材料的电导率从28.6 %IACS降低至20.6 %IACS,抗压强度也降低约30 MPa。     

石榴枯萎病的生防木霉菌株的筛选及鉴定

目的 石榴枯萎病是由甘薯长喙壳菌引起,对石榴有严重危害的土传病害。利用拮抗微生物抑制病原菌的繁殖是石榴枯萎病绿色防控的有效手段。通过筛选具有对石榴枯萎病原菌产生拮抗效果的微生物,研究其抑制菌作用,以期为石榴枯萎病生物防控提供菌种资源。方法 从石榴的根际土壤中分离出真菌,根据产孢量、生长速率、拮抗系数及平板对峙结果进行筛选,对防效较好的真菌根据形态学和分子系统学进行鉴定,通过盆栽实验评估其对石榴枯萎病的防治效果。结果 能有效抑制石榴枯萎病菌菌丝的生长的菌株T9经鉴定为非洲哈茨木霉菌（Trichoderma afroharzianum）,盆栽防治效果最高可达71.35%。结论 该菌株展现出了对石榴枯萎病的生物防治效果,具有应用价值。     

复合土钉墙中搅拌桩对变形及土钉拉力的影响

复合土钉墙中的水泥搅拌桩对于减小基坑水平位移、改善土钉的受力状态有重要作用,但目前对于搅拌桩在复合土钉墙中这一作用的研究多局限在定性探讨,未进行较为量化的分析,在复合土钉墙的设计中也一般将搅拌桩作为安全储备.文中通过对复合土钉墙的有限元分析,对复合土钉墙中不同搅拌桩排数、长度及不同土层情况进行了对比研究.结果表明,设置不同排数的搅拌桩对于复合土钉墙的受力机理、变形特性、土钉拉力大小及分布均有较大影响,1~2排搅拌桩较为合理,过多的搅拌桩排数可能会导致复合土钉墙出现重力式挡墙的受力、变形性态,增加上部土钉的拉力.     

金属边框眼镜对手机辐射剂量的影响

基于医学解剖学人体模型,建立包括头部和手部的人体电磁模型,通过数值模拟计算,在垂直和旋转两种手机操作方式下,分析了配戴金属边框眼镜对人体所受手机天线电磁辐射剂量的影响.结果表明:配戴金属边框眼镜会导致手机天线对人体辐射的比吸收率明显增加,尤其是对人眼的比吸收率增幅可达到1倍以上,但所有计算值未超出目前公认的国际非电离辐射防护标准.     

人工智能技术阶段化发展与我国的后发追赶 ——基于双S曲线的技术演进分析

自改革开放四十多年来,我国在计算机及人工智能技术领域处于后发追赶并逐步向国际技术前沿靠近的状态,并在人工智能技术部分子领域中实现了由跟随者到并行领先的跨越,基本完成了技术追赶过程.为从技术阶段化演变规律中剖析这一过程,本文基于双S曲线方法及人工智能技术专利相关指标,从技术生命周期视角对人工智能技术的发展进行阶段划分,以...