Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome. Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals.     

喀斯特自然土壤中AM真菌对先锋植物根系的影响

【目的】研究丛枝菌根(Arbuscular mycorrhiza，AM)真菌在喀斯特自然土壤条件下对喀斯特先锋草本植物根系的影响。【方法】通过自然土接种AM真菌(N)、灭菌土接种AM真菌(M)及灭菌土壤对照(S)共3种土壤处理，种植喀斯特先锋植物狗尾草(Setaria viridis)、荩草(Arthraxon hispidus)、鬼针草(Bidens pilosa)及狼杷草(Bidens tripartita)，并测定它们的根系生物量、根长、根表面积、根体积、根平均直径、根尖数及根分枝数。【结果】荩草、鬼针草及狼杷草在N处理及M处理下具有较高的菌根侵染率，狗尾草的菌根侵染率较低。与S处理相比，M处理下AM真菌明显提高了荩草、鬼针草及狼杷草的根系生物量、根长、根表面积、根体积、根尖数、根分枝数及组织密度，降低了根平均直径、比根长、比根面积及比根体积；与M处理相比，N处理明显降低了荩草、鬼针草及狼杷草的根系生物量、根长、根表面积、根体积、根尖数、根分枝数及组织密度，提高了比根长、比根面积及比根体积，但对根平均直径无明显影响。【结论】荩草、鬼针草及狼杷草具有较高菌根侵染率，能与AM真菌共生获得更加发达的根系，而自然土壤削弱了AM真菌对荩草、鬼针草及狼杷草根系生长的促进作用。     

Progress and prospects in rat genetics: a community view

The rat is an important system for modeling human disease. Four years ago, the rich 150-year history of rat research was transformed by the sequencing of the rat genome, ushering in an era of exceptional opportunity for identifying genes and pathways underlying disease phenotypes. Genome-wide association studies in human populations have recently provided a direct approach for finding robust genetic associations in common diseases, but identifying the precise genes and their mechanisms of action remains problematic. In the context of significant progress in rat genomic resources over the past decade, we outline achievements in rat gene discovery to date, show how these findings have been translated to human disease, and document an increasing pace of discovery of new disease genes, pathways and mechanisms. Finally, we present a set of principles that justify continuing and strengthening genetic studies in the rat model, and further development of genomic infrastructure for rat research.     

基于并行工程的产品开发过程管理的研究

并行工程采用集成化与并行化的思想来开发产品,强调在信息集成基础上的过程集成,运用工作流管理技术能够很好地达到此目的。在分析工作流管理技术的基础上,以冲压模具的开发过程为例来说明用工作流管理技术实现产品开发过程管理的     

The Medicago genome provides insight into the evolution of rhizobial symbioses

Legumes (Fabaceae or Leguminosae) are unique among cultivated plants for their ability to carry out endosymbiotic nitrogen fixation with rhizobial bacteria, a process that takes place in a specialized structure known as the nodule. Legumes belong to one of the two main groups of eurosids, the Fabidae, which includes most species capable of endosymbiotic nitrogen fixation. Legumes comprise several evolutionary lineages derived from a common ancestor 60 million years ago (Myr ago). Papilionoids are the largest clade, dating nearly to the origin of legumes and containing most cultivated species. Medicago truncatula is a long-established model for the study of legume biology. Here we describe the draft sequence of the M. truncatula euchromatin based on a recently completed BAC assembly supplemented with Illumina shotgun sequence, together capturing ～94% of all M. truncatula genes. A whole-genome duplication (WGD) approximately 58 Myr ago had a major role in shaping the M. truncatula genome and thereby contributed to the evolution of endosymbiotic nitrogen fixation. Subsequent to the WGD, the M. truncatula genome experienced higher levels of rearrangement than two other sequenced legumes, Glycine max and Lotus japonicus. M. truncatula is a close relative of alfalfa (Medicago sativa), a widely cultivated crop with limited genomics tools and complex autotetraploid genetics. As such, the M. truncatula genome sequence provides significant opportunities to expand alfalfa's genomic toolbox.     

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face. The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism.     

GH220合金中碳化物相变规律

研究了合金中M_6C,M_(23)C_6及MC的晶体结构、化学组成、形态、分布及数量,它们的溶解析出规律及互相转化。