Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL

Autosomal recessive osteopetrosis is usually associated with normal or elevated numbers of nonfunctional osteoclasts. Here we report mutations in the gene encoding RANKL (receptor activator of nuclear factor-KB ligand) in six individuals with autosomal recessive osteopetrosis whose bone biopsy specimens lacked osteoclasts. These individuals did not show any obvious defects in immunological parameters and could not be cured by hematopoietic stem cell transplantation; however, exogenous RANKL induced formation of functional osteoclasts from their monocytes, suggesting that they could, theoretically, benefit from exogenous RANKL administration.     

tRNase Z: the end is not in sight

Although the enzyme tRNase Z has only recently been isolated, a plethora of data has already been acquired concerning the enzyme. tRNase Z is the endonuclease that catalyzes the removal of the tRNA 3′ trailer, yielding the mature tRNA 3′ end ready for CCA addition and aminoacylation. Another substrate cleaved by tRNase Z is the small chromogenic phosphodiester bis(p-nitrophenyl)phosphate (bpNPP), which is the smallest tRNase Z substrate known so far. Hitherto the biological function as tRNA 3′-end processing enzyme has been shown only in one prokaryotic and one eukaryotic organism, respectively. This review summarizes the present information concerning the two tRNase Z substrates pre-tRNA and bpNPP, as well as the metal requirements of tRNase Z enzymes. Received 29 March 2007; received after revision 15 May 2007; accepted 21 May 2007     

光子探测器在芬兰HIP和克罗地亚RBI的研发制作

该文描述了碲化镉（CdTe）探测器,硅漂移探测器和外加一层转换闪烁体硅探测器（SiS）的设计与制作方法这些硅及CdTe芯片制作工艺及其连接方法是在芬兰的Micronova中心完成的与硅工艺不同的是,CdTe工艺必须在低于150 ℃的温度下完成我们因此专门为CdTe探测器开发了一种低温原子层淀积的氧化铝（Al2O3）薄膜工艺,大小为(10×10×1) mm3的CdTe晶圆由一种无接触的光刻工艺完成.探测器性能是由电流 电压（I V）,电容 电压（C V）、瞬间电流方法和精确微质子数方法来检测的实验结果与具有材料和缺陷参数的TCAD模拟结果相符     

Cluster卫星对磁尾电流片运动特性的统计分析

地球磁尾电流片拍动的起源和运动方式一直是磁尾动力学研究中的重要问题之一.本文利用Cluster卫星数据,统计分析了2001年和2003年的磁尾电流片运动特性,利用我们最近发展的分析结构特征方向和运动速度的新方法,计算了磁尾电流片的运动速度,并给出了磁尾电流片在GSE坐标系中XY平面内的速度分布图.我们发现磁尾电流片存在着两种不同性质的运动,除了磁尾电流片向晨昏方向的运动,分析表明,磁尾电流片还存在着明显朝向子夜方向的运动（即GSE坐标系中Y=0平面）.观测还进一步表明,位于磁尾中间区域（｜Y_GSE｜〈8Re）的电流片的扰动,其南北向的速度分量相对较大,这从另一个方面说明磁尾中性片的中间区域可能是导致大部分磁尾电流片拍动事件中电流片朝向晨昏两侧运动的源区.对于运动方向朝向子夜方向（Y=0平面）的电流片,其运动方式与运动方向朝向晨昏两侧的电流片存在着明显的不同,因此我们推测,它们应具有不同的起源.本文的统计结果,为我们深入研究地球磁尾电流片拍动源区等物理问题提供了的参考依据.     

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

An isolated defect of respiratory chain complex I activity is a frequent biochemical abnormality in mitochondrial disorders. Despite intensive investigation in recent years, in most instances, the molecular basis underpinning complex I defects remains unknown. We report whole-exome sequencing of a single individual with severe, isolated complex I deficiency. This analysis, followed by filtering with a prioritization of mitochondrial proteins, led us to identify compound heterozygous mutations in ACAD9, which encodes a poorly understood member of the mitochondrial acyl-CoA dehydrogenase protein family. We demonstrated the pathogenic role of the ACAD9 variants by the correction of the complex I defect on expression of the wildtype ACAD9 protein in fibroblasts derived from affected individuals. ACAD9 screening of 120 additional complex I-defective index cases led us to identify two additional unrelated cases and a total of five pathogenic ACAD9 alleles.     

Yersinia pestis genome sequencing identifies patterns of global phylogenetic diversity

Plague is a pandemic human invasive disease caused by the bacterial agent Yersinia pestis. We here report a comparison of 17 whole genomes of Y. pestis isolates from global sources. We also screened a global collection of 286 Y. pestis isolates for 933 SNPs using Sequenom MassArray SNP typing. We conducted phylogenetic analyses on this sequence variation dataset, assigned isolates to populations based on maximum parsimony and, from these results, made inferences regarding historical transmission routes. Our phylogenetic analysis suggests that Y. pestis evolved in or near China and spread through multiple radiations to Europe, South America, Africa and Southeast Asia, leading to country-specific lineages that can be traced by lineage-specific SNPs. All 626 current isolates from the United States reflect one radiation, and 82 isolates from Madagascar represent a second radiation. Subsequent local microevolution of Y. pestis is marked by sequential, geographically specific SNPs.