籼稻‘93-11’一段基因组序列的完善及分析

超级杂交稻父本93-11的基因组序列测定的完成,为进行作物遗传改良和不同作物之间的比较基因组学研究提供了又一重要序列资源.但是,该基因组序列中还存在很多缺口",为使93-11的基因组序列更加精确,同时提供一些缺口"填补策略和方法,本研究采用PCR扩增、回收克隆测序的方法对该基因组中一段长约160kb、含有6个缺口"的基因组序列进行了完善,并运用相关分子生物学和生物信息学软件进行了详细分析,结果表明:该6个缺口"中,存在1个缺口"估计错误,2个序列拼接错误;缺口"主要位于非编码区,位于编码区的只有1个,其改变了对本处基因的注释,使此基因由原来的9个外显子增加为11个;填补缺口"后,基因密度增加.     

人类基因组结构变异

基因组结构变异通常是指基因组内大于1 kb的DNA片段缺失、插入、重复、倒位、易位以及DNA拷贝数目变化(CNVs)。人类基因组结构变异涉及数千片段不连续的基因组区域, 含数百万DNA碱基对, 可含数个基因及调控序列, 多种基因功能因此缺失或改变, 导致机体表型变化、疾病易感性改变或发生疾病。对基因组结构变异的研究, 有助于用动态的观点全面分析基因组遗传变异得到整合的基因型, 理解结构变异的潜在医学作用及机体整体功能的复杂性。文章从人类基因组结构变异的类型、研究方法, 对个体表型、疾病及生物进化的影响等方面综合阐述人类基因组结构变异的最新研究进展。     

十一五国家高技术研究发展计划“重大疾病的分子分型和个体化诊疗”重大项目布局及实施情况分析

简要分析了"十一五"期间国家高技术研究发展计划("863"计划)"重大疾病的分子分型和个体化诊疗"重大项目的课题设置及实施情况。分别从本项目研究方向及课题设置、课题承担单位及研究人员结构、课题完成情况及所取得的代表性研究成果等方面进行了具体分析和归纳总结,供广大科技工作者参考。     

昆虫基因组大小及其进化

基因组是物种遗传信息的集合,其大小是研究基因组进化、结构及功能的重要参数之一。本文介绍了测定基因组大小的方法,简述了基因组大小的进化假说及分子机制,综述了近年来昆虫基因组大小的研究进展,尤其是昆虫基因组大小变化的相关影响因子。总体而言,昆虫基因组大小变化是一个复杂的过程,与转座子的活性有密切的关系,是基因组序列丢失和获得两种过程平衡的结果。基因组大小的变化仍在不断地进化中,其对生物造成的影响是剧烈的,因此对昆虫的表型特征产生了重要的影响,但影响的程度和关系在不同的类群有明显的差异,表现出一定的随机性,目前尚未总结出明显的规律。昆虫是生物多样性最为丰富的动物类群,是研究基因组大小进化的最佳材料,随着越来越多的昆虫基因组被测序公开,对昆虫基因组数据进行深入分析,有利于破解基因组大小进化的"C值之谜",可为生物基因组大小的研究提供重要参考。     

酵母基因组工程

酿酒酵母染色体的人工合成突破了真核生物基因组重新设计与合成,将引发基因组工程研究新的高潮.本文以酵母基因组工程为例,对"自上而下"和"自下而上"两种不同策略的基因组工程研究取得的最新进展进行综述,并展望其发展前景和趋势.     

籼稻'93-11'一段基因组序列的完善及分析

超级杂交稻父本‘93-11＇的基因组序列测定的完成,为进行作物遗传改良和不同作物之间的比较基因组学研究提供了又一重要序列资源.但是,该基因组序列中还存在很多“缺口”,为使‘93-11＇的基因组序列更加精确,同时提供一些“缺口”填补策略和方法,本研究采用PCR扩增、回收克隆测序的方法对该基因组中一段长约160 kb、含有6个“缺口”的基因组序列进行了完善,并运用相关分子生物学和生物信息学软件进行了详细分析,结果表明：该6个“缺口”中,存在1个“缺口”估计错误,2个序列拼接错误;“缺口”主要位于非编码区,位于编码区的只有1个,其改变了对本处基因的注释,使此基因由原来的9个外显子增加为11个;填补“缺口”后,基因密度增加.     

Meta-Mesh——元基因组数据分析系统

随着元基因组数据的不断增多,建立一个包含高品质的元基因组样本(也称为"微生物群落")数据的集成化的分析平台成为可能,使得微生物群落样本能够被有效分析、比较与搜索,从中发现更加深入的生物学意义。然而,一方面目前大部分元基因组数据库仅仅提供了简单的数据存储,缺乏良好的样本注释或者仅仅提供了很少的分析功能。另一方面,用于计算微生物群落数据相似性的方法所能够接受的样本数据量非常有限。长期以来,科学家们一直在寻找有效的方法计算海量微生物群落之间的相似性,从而研究样本之间的相似度并发现元基因组数据信息的相关性。Meta-Mesh是一个全新的在线元基因组分析系统,它包括元基因组数据库和分析平台,可以对元基因组样本进行系统、有效地分析,并实现样本的群落结构比较和精确搜索。其中,元基因组数据库已经从公共领域和内部实验室收集了超过7 000个高品质、带有有效注释的样本。同时,Meta-Mesh的分析平台提供了多种在线分析工具,可以对元基因组样本进行群落的结构分析与注释,多角度比较,并能通过快速索引策略和群落结构相似性算法在数据库中高效搜索近似的样本。Meta-Mesh通过"人体微生物群落样本的数据库搜索识别"以及"基于相似度矩阵的样本的聚类"等一系列的元基因组研究案例证明了其分析方面的性能。作为一个在线的元基因组数据库和分析系统,Meta-Mesh将服务于元基因组样本的快速分析、识别、比对、搜索等相关领域。     

合成型酵母基因组重排技术

基因组的结构变异是生物体表型进化的重要驱动力之一。设计与合成酵母基因组为人工基因组结构变异提供了新途径。人工合成酿酒酵母基因组(Sc2.0)通过系统性地引入重排元件,赋予了基因组柔性可变的功能,可诱导产生 DNA 片段的删除、反转、复制、移位等基因组结构变异。合成型酵母基因组重排技术可实现菌株性状的快速进化,并且为研究基因组结构变异与表型变化间的关系提供了一种快速、全新的方法。综述了合成型酵母基因组重排技术的研究热点和技术进展,并展示了其在创新菌种中的应用价值。     

果树病毒基因组测序的研究

果树病毒痛害由于其危害严重及防治困难,一直是世界植物病理学者和果树生产者所关注的一个重要问题.而果树病毒基因组的研究在了解病毒基因的结构、功能,病毒基因的致病性及病毒的准确分类等方面有着重要的作用,因此,综述了果树病毒基因组研究的意义,介绍了果树病毒基因组测序策略中病毒基因组模板的制备、测序方法及测序产物的注释等方面,并展望了果树病毒基因组测序研究的前景.     

SNP标记与大豆基因组作图

大豆是重要的粮油作物,在农业和经济中具有重要地位,因此对大豆基因的研究具有重要的意义。利用分子标记构建的遗传图谱是植物基因组结构和功能分析的有力工具。本文综述了SNP标记在大豆基因组中的开发、大豆基因组作图的研究概况及SNP标记在其中的应用。     

Detection of Homologous Recombination Events in Bacterial Genomes

We study the detection of mutations, sequencing errors, and homologous recombination events (HREs) in a set of closely related microbial genomes. We base the model on single nucleotide polymorphisms (SNPs) and break the genomes into blocks to handle the rearrangement problem. Then we apply a dynamic programming algorithm to model whether changes within each block are likely a result of mutations, sequencing errors, or HREs. Results from simulation experiments show that we can detect 31%–61% of HREs and the precision of our detection is about 48%–90% depending on the rates of mutation and missing data. The HREfinder software for predicting HREs in a set of whole genomes is available as open source (http://sourceforge.net/projects/hrefinder/).     

Analysis of High-Throughput Sequencing and Annotation Strategies for Phage Genomes

Background

Bacterial viruses (phages) play a critical role in shaping microbial populations as they influence both host mortality and horizontal gene transfer. As such, they have a significant impact on local and global ecosystem function and human health. Despite their importance, little is known about the genomic diversity harbored in phages, as methods to capture complete phage genomes have been hampered by the lack of knowledge about the target genomes, and difficulties in generating sufficient quantities of genomic DNA for sequencing. Of the approximately 550 phage genomes currently available in the public domain, fewer than 5% are marine phage.

Methodology/Principal Findings

To advance the study of phage biology through comparative genomic approaches we used marine cyanophage as a model system. We compared DNA preparation methodologies (DNA extraction directly from either phage lysates or CsCl purified phage particles), and sequencing strategies that utilize either Sanger sequencing of a linker amplification shotgun library (LASL) or of a whole genome shotgun library (WGSL), or 454 pyrosequencing methods. We demonstrate that genomic DNA sample preparation directly from a phage lysate, combined with 454 pyrosequencing, is best suited for phage genome sequencing at scale, as this method is capable of capturing complete continuous genomes with high accuracy. In addition, we describe an automated annotation informatics pipeline that delivers high-quality annotation and yields few false positives and negatives in ORF calling.

Conclusions/Significance

These DNA preparation, sequencing and annotation strategies enable a high-throughput approach to the burgeoning field of phage genomics.     

蛋白质基因组学：运用蛋白质组技术注释基因组

随着高通量DNA测序技术的飞速发展,越来越多的物种完成了基因组测序．定位编码基因、确定编码基因结构是基因组注释的基本任务,然而以往的基因组注释方法主要依赖于DNA及RNA序列信息．为了更加精确地解读完成测序的基因组,我们需要整合多种类型的组学数据进行基因组注释．近年来,基于串联质谱技术的蛋白质组学已经发展成熟,实现了对蛋白质组的高覆盖,使得利用串联质谱数据进行基因组注释成为可能．串联质谱数据一方面可以对已注释的基因进行表达验证,另一方面还可以校正原注释基因,进而发现新基因,实现对基因组序列的重新注释．这正是当前进展较快的蛋白质基因组学的研究内容．利用该方法系统地注释已完成测序的基因组已成为解读基因组的一个重要补充．本文综述了蛋白质基因组学的主要研究内容和研究方法,并展望了该研究方向未来的发展．     

BGD: A Database of Bat Genomes

Bats account for ~20% of mammalian species, and are the only mammals with true powered flight. For the sake of their specialized phenotypic traits, many researches have been devoted to examine the evolution of bats. Until now, some whole genome sequences of bats have been assembled and annotated, however, a uniform resource for the annotated bat genomes is still unavailable. To make the extensive data associated with the bat genomes accessible to the general biological communities, we established a Bat Genome Database (BGD). BGD is an open-access, web-available portal that integrates available data of bat genomes and genes. It hosts data from six bat species, including two megabats and four microbats. Users can query the gene annotations using efficient searching engine, and it offers browsable tracks of bat genomes. Furthermore, an easy-to-use phylogenetic analysis tool was also provided to facilitate online phylogeny study of genes. To the best of our knowledge, BGD is the first database of bat genomes. It will extend our understanding of the bat evolution and be advantageous to the bat sequences analysis. BGD is freely available at: http://donglab.ecnu.edu.cn/databases/BatGenome/.     

Cyanobacterial KnowledgeBase (CKB), a Compendium of Cyanobacterial Genomes and Proteomes

Cyanobacterial KnowledgeBase (CKB) is a free access database that contains the genomic and proteomic information of 74 fully sequenced cyanobacterial genomes belonging to seven orders. The database also contains tools for sequence analysis. The Species report and the gene report provide details about each species and gene (including sequence features and gene ontology annotations) respectively. The database also includes cyanoBLAST, an advanced tool that facilitates comparative analysis, among cyanobacterial genomes and genomes of E. coli (prokaryote) and Arabidopsis (eukaryote). The database is developed and maintained by the Sub-Distributed Informatics Centre (sponsored by the Department of Biotechnology, Govt. of India) of the National Facility for Marine Cyanobacteria, a facility dedicated to marine cyanobacterial research. CKB is freely available at http://nfmc.res.in/ckb/index.html.     

Comparative Chloroplast Genomes of Camellia Species

Background

Camellia , comprising more than 200 species, is a valuable economic commodity due to its enormously popular commercial products: tea leaves, flowers, and high-quality edible oils. It is the largest and most important genus in the family Theaceae. However, phylogenetic resolution of the species has proven to be difficult. Consequently, the interspecies relationships of the genus Camellia are still hotly debated. Phylogenomics is an attractive avenue that can be used to reconstruct the tree of life, especially at low taxonomic levels.

Methodology/Principal Findings

Seven complete chloroplast (cp) genomes were sequenced from six species representing different subdivisions of the genus Camellia using Illumina sequencing technology. Four junctions between the single-copy segments and the inverted repeats were confirmed and genome assemblies were validated by PCR-based product sequencing using 123 pairs of primers covering preliminary cp genome assemblies. The length of the Camellia cp genome was found to be about 157kb, which contained 123 unique genes and 23 were duplicated in the IR regions. We determined that the complete Camellia cp genome was relatively well conserved, but contained enough genetic differences to provide useful phylogenetic information. Phylogenetic relationships were analyzed using seven complete cp genomes of six Camellia species. We also identified rapidly evolving regions of the cp genome that have the potential to be used for further species identification and phylogenetic resolution.

Conclusions/Significance

In this study, we wanted to determine if analyzing completely sequenced cp genomes could help settle these controversies of interspecies relationships in Camellia . The results demonstrate that cp genome data are beneficial in resolving species definition because they indicate that organelle-based “barcodes”, can be established for a species and then used to unmask interspecies phylogenetic relationships. It reveals that phylogenomics based on cp genomes is an effective approach for achieving phylogenetic resolution between Camellia species.     

“十一五”863计划“纳米生物材料研发”重点项目课题布局及实施情况分析

简要分析了"十一五"期间国家高技术研究发展计划(863计划)"纳米生物材料研发"重点项目的课题设置及实施情况。分别从本重点项目研究方向及课题设置、课题承担单位及研究人员结构、课题完成情况及所取得的代表性研究成果等方面进行了具体分析和归纳总结,供广大科技工作者参考。     

“十一五”863计划“纳米生物器件”重点项目课题布局及实施情况分析

简要分析了“十一五”期间国家高技术研究发展计划(“863”计划)“纳米生物器件”重点项目的课题设置及实施情况.分别从本重点项目研究方向及课题设置、课题承担单位及研究人员结构、课题完成情况及所取得的代表性研究成果等方面进行了具体分析和归纳总结,供广大科技工作者参考.