Genome-wide association studies of 14 agronomic traits in rice landraces

Uncovering the genetic basis of agronomic traits in crop landraces that have adapted to various agro-climatic conditions is important to world food security. Here we have identified ～ 3.6 million SNPs by sequencing 517 rice landraces and constructed a high-density haplotype map of the rice genome using a novel data-imputation method. We performed genome-wide association studies (GWAS) for 14 agronomic traits in the population of Oryza sativa indica subspecies. The loci identified through GWAS explained ～ 36% of the phenotypic variance, on average. The peak signals at six loci were tied closely to previously identified genes. This study provides a fundamental resource for rice genetics research and breeding, and demonstrates that an approach integrating second-generation genome sequencing and GWAS can be used as a powerful complementary strategy to classical biparental cross-mapping for dissecting complex traits in rice.     

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.     

我国光伏设备技术发展现状与趋势研究

光伏产品生产制造在当前是设备制造行业当中的新领域。目前,我国的光伏设备技术发展还处于初级发展阶段,但由于其对于产业的结构调整和产业进步有着巨大的作用,因此得到了大力的推广,并且也为设备制造业提供了极大的保障。本文主要对我国光伏设备技术的发展现状进行了分析,并对其未来发展趋势进行了进一步的讨论,希望为相关人士提供一些有益参考。     

水栖性的棘胸蛙身体大小不随环境水热梯度及净初级生产力梯度而分化

之前的研究发现不同地理种群棘胸蛙(Quasipaa spinosa)的身体大小随着环境生产力以及年最低温的降低而增大,因为更大的身体利于在生产力水平较低的环境中耐受饥饿并利于在寒冷的环境条件下保存热量.然而在种间水平上进行的相关研究发现:由于大部分时间生活在水体这种相对稳定的环境中,水栖性无尾类的身体大小并不受宏观水热波动的影响.为了更好地探究这个问题,我们以棘胸蛙为研究对象,在之前的基础上选择更多的研究地点及更多的环境因子,研究其身体大小的地理分化格局并探究潜在机制.与之前的发现不同,作为一种水栖性无尾类,棘胸蛙的身体大小并不受环境水热梯度以及净初级生产力梯度的影响.导致这种现象的原因可能是水栖性的生境偏好缓和了棘胸蛙受到的来自宏观环境水热波动的影响,所以它们并不通过改变身体大小来适应宏观环境梯度.此外由于棘胸蛙的肉食性,环境初级生产力并不能有效地衡量其食物供给,其身体大小是否受到食物供给量的影响仍有待深入探究.     

头盘微小间隙动态浮动理论研究

本文对微小浮动间隙的磁头浮动块的动态浮动性能进行了仿真计算。在考虑头盘碰撞的基础上,分析了磁头浮动块对冲击的响应。分析结果表明:在微小浮动间隙的头盘系统中,盘片表面粗糙度和外界干扰冲击对浮动块的浮动性能影响较大。新的动态浮动理论中,必须包含头盘磁撞的研究。