Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

We have conducted the first meta-analyses for nonsyndromic cleft lip with or without cleft palate (NSCL/P) using data from the two largest genome-wide association studies published to date. We confirmed associations with all previously identified loci and identified six additional susceptibility regions (1p36, 2p21, 3p11.1, 8q21.3, 13q31.1 and 15q22). Analysis of phenotypic variability identified the first specific genetic risk factor for NSCLP (nonsyndromic cleft lip plus palate) (rs8001641; P(NSCLP) = 6.51 × 10(-11); homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84-3.16).     

原始组织对等通道角挤压纯铜组织性能的影响

分别对单晶和多晶原始纯铜进行等通道角挤压(ECAP)实验,研究Bc路径挤压后的组织特征和力学性能.结果表明,单晶和多晶铜在挤压过程中晶粒的细化方式明显不同:单晶铜在位错塞积后形成胞状结构,晶粒在位错塞积区发生断裂是其晶粒细化的主要原因;多晶铜在挤压中发生晶粒转动、晶界移动后造成晶粒被拉长并断裂,这是其晶粒细化的主要原因.力学性能对比发现,挤压中单晶铜的硬度和抗拉强度较多晶铜变化显著,认为挤压后单晶铜亚晶的定向排列是延伸率大幅度提高的主要原因.     

Structure of eEF3 and the mechanism of transfer RNA release from the E-site

Elongation factor eEF3 is an ATPase that, in addition to the two canonical factors eEF1A and eEF2, serves an essential function in the translation cycle of fungi. eEF3 is required for the binding of the aminoacyl-tRNA-eEF1A-GTP ternary complex to the ribosomal A-site and has been suggested to facilitate the clearance of deacyl-tRNA from the E-site. Here we present the crystal structure of Saccharomyces cerevisiae eEF3, showing that it consists of an amino-terminal HEAT repeat domain, followed by a four-helix bundle and two ABC-type ATPase domains, with a chromodomain inserted in ABC2. Moreover, we present the cryo-electron microscopy structure of the ATP-bound form of eEF3 in complex with the post-translocational-state 80S ribosome from yeast. eEF3 uses an entirely new factor binding site near the ribosomal E-site, with the chromodomain likely to stabilize the ribosomal L1 stalk in an open conformation, thus allowing tRNA release.     

大型钢锭底部沉积锥形成的计算机模拟

提出了大型钢锭底部沉积锥由等轴晶组成,其来源有三部分:顶部结晶雨的下落;侧壁枝晶熔断和折断形成的自由晶沉积到底部;沉积锥本身的凝固生长。分析了影响结晶雨下落和侧壁枝晶熔断和折断的主要因素,指出侧壁枝晶的熔断和折断是由液体金属内部的自然对流引起的温度起伏与其本身的机械冲刷造成的,形成的自由晶量正比于液体金属内部的自然对流强弱程度和液体金属在枝晶间的渗透率。用计算机计算了沉积锥高度和钢锭的凝固速度,计算结果和资料介绍的结果对比表明,建立的大型钢锭沉积锥形成的模拟方法可靠。     

纯金属Al热型连铸凝固过程数值模拟

采用交替显式直接差分法建立了热型连铸凝固过程温度场模拟的差分数值方法，并研究了不同工艺参数对温度场分布的影响．模拟结果表明，采用交替显示差分格式建立差分方程进行热型连铸过程温度场模拟计算，计算过程简单，所得计算结果严格收敛，说明交替显示差分格式建立差分方程的合理性，是一种较好的建立差分方程的方法．连铸速度对纯金属Al凝固时固液界面的位置影响较大，随连铸速度增大，液固界面位置从型内向型外移动，与实验结果一致，说明采用计算机模拟技术是可行的．     

铸造合金金相分析图象处理系统的研究

概要介绍了计算机图象处理技术在金相分析方面的发展．提出了适用于金相分析的图象处理方法，并研制了铸造合金金相分析图象处理系统．该系统可对金相试样或图片作出识别．     

等径角挤压对纯铜组织与性能的影响

研究采用BC路径(即试样进入下一道次挤压时按同一方向旋转90°)对纯铜进行等径角挤压后得到的组织与性能.结果表明,通过室温下对纯铜的8道次挤压后,得到均匀、细小的等轴晶组织(晶粒尺寸约1.5μm).抗拉强度从原来的235 MPa提高到420 MPa,硬度从114 HV提高到184.3 HV,延伸率由原来的45%降低到19%.通过对不同挤压道次试样在473 K下60 min的退火处理后,其晶粒进一步细化至1μm,其抗拉强度提高到435 MPa.     

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

We identified three consanguineous Austrian kindreds with 15 members affected by autosomal recessive childhood-onset severe retinal dystrophy, a genetically heterogeneous group of disorders characterized by degeneration of the photoreceptor cells. A whole-genome scan by microarray analysis of single-nucleotide polymorphisms (ref. 2) identified a founder haplotype and defined a critical interval of 1.53 cM on chromosome 14q23.3-q24.1 that contains the gene associated with this form of retinal dystrophy. RDH12 maps in this region and encodes a retinol dehydrogenase proposed to function in the visual cycle. A homozygous 677A-->G transition (resulting in Y226C) in RDH12 was present in all affected family members studied, as well as in two Austrian individuals with sporadic retinal dystrophy. We identified additional mutations in RDH12 in 3 of 89 non-Austrian individuals with retinal dystrophy: a 5-nucleotide deletion (806delCCCTG) and the transition 565C-->T (resulting in Q189X), each in the homozygous state, and 146C-->T (resulting in T49M) and 184C-->T (resulting in R62X) in compound heterozygosity. When expressed in COS-7 cells, Cys226 and Met49 variants had diminished and aberrant activity, respectively, in interconverting isomers of retinol and retinal. The severe visual impairment of individuals with mutations in RDH12 is in marked contrast to the mild visual deficiency in individuals with fundus albipunctatus caused by mutations in RDH5, encoding another retinal dehydrogenase. Our studies show that RDH12 is associated with retinal dystrophy and encodes an enzyme with a unique, nonredundant role in the photoreceptor cells.