小麦及其近缘种中基因组特异性DNA重复序列的研究进展

本文对小麦族植物中基因组特异性DNA重复序列的分类、基本特征、分离和鉴定方法、在小麦遗传改良中的应用以及未来研究的发展趋势进行了简述。综合已有的研究结果可以看出基因组特异性DNA重复序列是小麦族植物基因组特异性形成的重要构成部分。对基因组特异性DNA重复序列的研究是认识小麦族植物基因组的有效途径之一,基因组特异性DNA重复序列的应用将进一步促进小麦族植物分子细胞遗传学和普通小麦遗传改良研究的进展。 Advances in Studies of Genome-Specific Repetitive DNA Sequences in Wheat and Related Species BAI Jian-rong1,2,JIA Xu1,WANG Dao-wen1 1.The State Key Laboratory of Plant Cell and Chromosome Engineering,Institute of Genetics and Developmental Biology,The Chinese Academy of Sciences,Beijing 100101,China; 2.Crop Genetics Institute,Shanxi Academy of Agricultural Sciences,Taiyuan 030031,China Abstract:In this paper we review recent advances in studies of several aspects of genome specific repetitive DNA sequences in wheat and related species.The available results demonstrate that genome specific repetitive DNA sequences are important components of genome specificity in wheat and related species.Research on genome specific repetitive DNA sequences is essential to the elucidation of genome function.The application of genome specific repetitive DNA sequences will aid molecular cytogenetic studies in wheat and related species and contributes to genetic improvement of common wheat. Key words：wheat;genome specific repetitive DNA sequence;chromosome     

Breaking RAD: an evaluation of the utility of restriction site‐associated DNA sequencing for genome scans of adaptation

Understanding how and why populations evolve is of fundamental importance to molecular ecology. Restriction site‐associated DNA sequencing (RADseq), a popular reduced representation method, has ushered in a new era of genome‐scale research for assessing population structure, hybridization, demographic history, phylogeography and migration. RADseq has also been widely used to conduct genome scans to detect loci involved in adaptive divergence among natural populations. Here, we examine the capacity of those RADseq‐based genome scan studies to detect loci involved in local adaptation. To understand what proportion of the genome is missed by RADseq studies, we developed a simple model using different numbers of RAD‐tags, genome sizes and extents of linkage disequilibrium (length of haplotype blocks). Under the best‐case modelling scenario, we found that RADseq using six‐ or eight‐base pair cutting restriction enzymes would fail to sample many regions of the genome, especially for species with short linkage disequilibrium. We then surveyed recent studies that have used RADseq for genome scans and found that the median density of markers across these studies was 4.08 RAD‐tag markers per megabase (one marker per 245 kb). The length of linkage disequilibrium for many species is one to three orders of magnitude less than density of the typical recent RADseq study. Thus, we conclude that genome scans based on RADseq data alone, while useful for studies of neutral genetic variation and genetic population structure, will likely miss many loci under selection in studies of local adaptation.     

Prospects and pitfalls in whole genome association studies

Recent large-scale studies of common genetic variation throughout the human genome are making it feasible to conduct whole genome studies of genotype-phenotype associations. Such studies have the potential to uncover novel contributors to common complex traits and thus lead to insights into the aetiology of multifactorial phenotypes. Despite this promise, it is important to recognize that the availability of genetic markers and the ability to assay them at realistic cost does not guarantee success of this approach. There are a number of practical issues that require close attention, some forms of allelic architecture are not readily amenable to the association approach with even the most rigorous design, and doubtless new hurdles will emerge as the studies begin. Here we discuss the promise and current challenges of the whole genome approach, and raise some issues to consider in interpreting the results of the first whole genome studies.     

Genome mapping in aquatic animals: progress and future perspectives

The genome of aquatic animals is poorly understood and information from different taxonomic groups is sketchy. While there have been intensive genomic studies on some fish models, investigations on other fishes and invertebrates have been scarce. Yet there are recently some coordinated studies on genome mapping in a number of aquaculture animals of economic importance. This review summarizes information available on genome mapping of the important fish models and aquaculture animals. The future perspectives of this field of studies are discussed.     

Genome Mapping in Aquatic Animals: Progress and Future Perspectives

The genome of aquatic animals is poorly understood and information from different taxonomic groups is sketchy. While there have been intensive genomic studies on some fish models, investigations on other fishes and invertebrates have been scarce. Yet there are recently some coordinated studies on genome mapping in a number of aquaculture animals of economic importance. This review summarizes information available on genome mapping of the important fish models and aquaculture animals. The future perspectives of this field of studies are discussed.     

多年生植物模式物种基因组研究的历史及进展

木本植物有许多不同于一年生草本植物的生物学特性,生物学家提出将木本植物 作为研究多年生植物的模式体系。杨属Populus树种由于研究基础较好且基因组较小,目前已 被广泛地接受作为多年生植物基因组研究的模式物种。随着杨属树种全基因组序列的测定, 杨属树种在多年生植物的功能基因组研究及一些基础科学问题的研究中将发挥重要作用。本 文综述了杨属树种基因组研究的历史、进展及将来的研究热点,旨在为我国多年生植物基因 组研究提供参考和借鉴。本文主要论述了以下几个方面的内容:（1）对杨属树种开展的细胞 遗传学研究;（2）在分子水平上对杨属树种进行的基因组研究,内容包括遗传作图、基因组 测序、物理图谱构建、基因芯片及连锁不平衡分析;（3）杨属树种基因组信息在探讨一些基 础科学问题中的潜在应用。     

Single‐cell imaging of genome organization and dynamics

Probing the architecture, mechanism, and dynamics of genome folding is fundamental to our understanding of genome function in homeostasis and disease. Most chromosome conformation capture studies dissect the genome architecture with population‐ and time‐averaged snapshots and thus have limited capabilities to reveal 3D nuclear organization and dynamics at the single‐cell level. Here, we discuss emerging imaging techniques ranging from light microscopy to electron microscopy that enable investigation of genome folding and dynamics at high spatial and temporal resolution. Results from these studies complement genomic data, unveiling principles underlying the spatial arrangement of the genome and its potential functional links to diverse biological activities in the nucleus.     

复杂疾病全基因组关联研究进展—— 研究设计和遗传标记

实现全基因组关联研究(Genome-wide association study, GWA)在数年前还是遗传学家们的梦想, 如今它已经变成了现实。自2005年Science杂志报道了第一项有关年龄相关性(视网膜)黄斑变性全基因组关联研究研究以来, 有关与复杂疾病的全基因组关联研究如雨后春笋般层出不穷。文中介绍了近两年来全基因组关联研究在复杂疾病研究领域内的主要发现、全基因组关联研究设计原理、遗传标记的选择、比较及相关商品信息。最后介绍了人类基因组拷贝数变异的研究进展, 总结了人类全基因组关联研究所取得成就和存在的问题, 并对全基因组关联研究未来的研究重点和要解决的问题进行了展望。     

The effect of genome size on detailed species traits within closely related species of the same habitat

In spite of the large number of studies on genome size, studies comparing genome size and growth‐related traits across a wider range of species from the same habitat, taking into account species phylogeny, are largely missing. I estimated the relationship between genome size and different seed and seedling traits in perennial herbs occurring in dry calcareous grasslands in northern Bohemia, Czech Republic. There was no relationship between genome size and plant traits in simple regression analyses, but several strong relationships emerged in analyses based on pairwise phylogenetically independent contrasts. There was a significant relationship between monoploid genome size and production of above‐ground biomass, seedling establishment success and seed weight and between holoploid genome size and seed dormancy. Because the results are based on phylogenetically independent contrasts over a range of species from the same type of habitat, they allow me to conclude that these patterns were not because of species group or habitat type, but really show a correlation with genome size. In contrast to previous studies, I found a higher number of relationships with monoploid than with holoploid genome size. This may be because the traits observed in this study are directly related to plant growth and thus to life‐cycle time, which is determined by monoploid genome size. © 2009 The Linnean Society of London, Botanical Journal of the Linnean Society, 2009, 160 , 290–298.     

BIS 1, a major component of the cereal genome and a tool for studying genomic organization

We report the cloning and characterization of an element (BIS 1) in barley. Related sequences were also found in wheat and rye genomes. BIS 1-related sequences may be some of the more frequent of the complex repeats in the barley genome, and their dispersion throughout the barley genome suggests that they are capable of both mobility and amplification. BIS 1 sequences have been used to study the gross structure of the barley genome. These studies indicate that the genome may be formed from larger genomic structures of tens of kilobases which may be repeated. Surprisingly, these studies also show that these large genomic structures also occur in similar proportions and at similar size distribution in the wheat genome.     

Comparative analysis of Gossypium and Vitis genomes indicates genome duplication specific to the Gossypium lineage

Genetic mapping studies have suggested that diploid cotton (Gossypium) might be an ancient polyploid. However, further evidence is lacking due to the complexity of the genome and the lack of sequence resources. Here, we used the grape (Vitis vinifera) genome as an out-group in two different approaches to further explore evidence regarding ancient genome duplication (WGD) event(s) in the diploid Gossypium lineage and its (their) effects: a genome-level alignment analysis and a local-level sequence component analysis. Both studies suggest that at least one round of genome duplication occurred in the Gossypium lineage. Also, gene densities in corresponding regions from Gossypium raimondii, V. vinifera, Arabidopsis thaliana and Carica papaya genomes are similar, despite the huge difference in their genome sizes and the different number of WGDs each genome has experienced. These observations fit the model that differences in plant genome sizes are largely explained by transposon insertions into heterochromatic regions.     

History and progress of the genomics studies in the model system of perennial plant species

Strong justifications have been developed for why woody plants should be viewed as mod-el systems in plant biology. The genus Populus possesses many characteristics that are conductive to functional genomic studies,and therefore leads to its emergence as a model system in extrapolating findings in perennial plant species that are different from annual herbaceous plants. With the pro-ceeding of the whole genome sequencing,poplars will be act as a wide reference for functional ge-nomics studies in perennial plant species and will also contribute towards answering some fundamen-tal scientific questions. This paper reviewed the history and progress of the poplar genome studies and the potential keen topics in the future. The contents mainly address on: （1）the somatic genet-ics studies in Populus;（2）the genomics studies carried out in Populus,including genetic map-ping,genome sequ encing,physical map construction,microarray analysis and linkage disequilibri-um analysis;（3）the potential application of the genome information of Populus for facilitating our understanding of some basic scientific questions.     

单细胞自由生物基因组全序列的测定和比较基因组研究

近几年来五种单细胞生物的基因组计划得以完成。本文介绍了从五种生物的全基因组序列获得的一些成果,包括全基因组鸟枪法测序、基因组分析和新比较基因组等三个方面,并对生物基因组计划的研究方法作一些探讨。     

基因组结构信息在动物系统发育研究中的应用

随着人类基因组和一些模式生物、重要经济生物以及大量微生物基因组测序的完成,生物学整体研究业已进入基因组时代.最近5～10年以来,利用基因组结构信息进行系统发育推断的研究形成了分类学和进化生物学中的前沿领域之一.相对于核苷酸或氨基酸序列中的突变而言,基因组的结构变化--内含子的插入/缺失、反转录子的整合、签名序列、基因重复以及基因排序等--是更大空间(或者时间空间)尺度上的相对稀缺的系统发育信息,一般用于科和科以上阶元间的亲缘关系研究.基因组全序列的获得和其中各基因位置的确定有利于将基因组中不同层次的系统发育信息综合起来,利用全面分子证据(total molecular evidence;包括基因组信息,DNA、RNA、蛋白质的序列信息,RNA和蛋白质的高级结构等)进行分子系统学研究.     

A genome‐wide quantitative trait loci scan of neurocognitive performances in families with schizophrenia

Patients with schizophrenia frequently display neurocognitive dysfunction, and genetic studies suggest it to be an endophenotype for schizophrenia. Genetic studies of such traits may thus help elucidate the biological pathways underlying genetic susceptibility to schizophrenia. This study aimed to identify loci influencing neurocognitive performance in schizophrenia. The sample comprised of 1207 affected individuals and 1035 unaffected individuals of Han Chinese ethnicity from 557 sib‐pair families co‐affected with DSM‐IV (Diagnostic and Statistical Manual, Fourth Edition) schizophrenia. Subjects completed a face‐to‐face semi‐structured interview, the continuous performance test (CPT) and the Wisconsin card sorting test (WCST), and were genotyped with 386 microsatellite markers across the genome. A series of autosomal genome‐wide multipoint nonparametric quantitative trait loci (QTL) linkage analysis were performed in affected individuals only. Determination of genome‐wide empirical significance was performed using 1000 simulated genome scans. One linkage peak attaining genome‐wide significance was identified: 12q24.32 for undegraded CPT hit rate [nonparametric linkage z (NPL‐Z) scores = 3.32, genome‐wide empirical P = 0.03]. This result was higher than the peak linkage signal obtained in the previous genome‐wide scan using a dichotomous diagnosis of schizophrenia. The identification of 12q24.32 as a QTL has not been consistently implicated in previous linkage studies on schizophrenia, which suggests that the analysis of endophenotypes provides additional information from what is seen in analyses that rely on diagnoses. This region with linkage to a particular neurocognitive feature may inform functional hypotheses for further genetic studies for schizophrenia.     

基于第二代测序技术的细菌基因组与转录组研究策略简介

随着基于第二代测序技术的细菌基因组与转录组研究越来越广泛,选择合适的研究策略变得越来越重要.就基于第二代测序技术的细菌基因组和转录组研究策略进行综述,并简要介绍细菌基因组和转录组研究中的机遇和挑战.综述细菌基因组与转录组研究的常规方法及步骤,并简要地介绍存在的问题.细菌基因组和转录组研究策略为大多数细菌的研究提供了一个...     

哺乳动物基因组靶向修饰阳性细胞富集的报告载体系统研究进展

基因组靶向修饰技术对基因功能研究、基因治疗以及转基因育种研究都具有重要的意义和价值。近年来发展起来的人工核酸酶如ZFNs、TALENs和CRISPR/Cas9等的应用大大提高了基因组靶向修饰的效率。但是由于核酸酶表达载体转染效率、核酸酶表达效率及活性以及基因组被打靶后的修复效率等因素在一定程度上制约着基因组靶向修饰阳性细胞的获得。因此富集和筛选基因组靶向修饰阳性细胞是一个亟待解决的问题。报告载体系统可以间接地反映核酸酶的工作效率并有效富集核酸酶修饰的阳性细胞,进而提高基因组靶向修饰阳性细胞的富集和筛选效率。本文主要针对由非同源末端连接(Non-homologous end joining,NHEJ)和单链退火(Single-strand annealing,SSA)两种修复机制分别介导的报告载体系统的原理和应用进行了详细的介绍,以期为以后的相关研究提供借鉴和参考。     

Empirical bayes method for incorporating data from multiple genome scans

Individual genome scans tend to have low power and can produce markedly biased estimates of QTL effects. Further, the confidence interval for their location is often prohibitively large for subsequent fine mapping and positional cloning. Given that a large number of genome scans have been conducted, not to mention the large number of variables and subsets tested, it is difficult to confidently rule out type 1 error as an explanation for significant effects even when there is apparent replication in a separate data set. We adapted Empirical Bayes (EB) methods [1] to analyze data from multiple genome scans simultaneously and alleviate each of these problems while still allowing for different QTL population effects across studies. We investigated the effects of using the EB method to include data from background studies to update the results of a single study of interest via simulation and demonstrated that it has a stable confidence level over a wide range of parameters defining the background studies and increased the power to detect linkage, even when some of the background studies were null or had QTL effect at other markers. This EB method for incorporating data from multiple studies into genome scan analyses seems promising.