Identifying disease feature genes based on cellular localized gene functional modules and regulation networks

Using data mining methods to identify disease-rele- vant genes and functional modules via high throughput gene expression profiles is of critical importance for studying complex disease mechanisms and predicting disease phenotypes[1,2]. Genes do not behav…     

斑马鱼胚胎发育的功能染色体组

随着人类和其他物种染色体组测序工作的完成 ,人类科学最大的任务就是阐明数以万计的基因的生物功能。人类和动物生命周期都从受精卵开始 ,然后一步一步地发育成具有多元组织和器官的生物体。在胚胎形成过程中 ,伴随着基因生成物的协同运作 ,基因按其固有的程序陆续显现出影响 ,从而决定并实现整个人体程序。如果使用适当的动物做模型的话 ,可以加速胚胎功能染色体组的研究。斑马鱼就是这项研究一个很好的模型。斑马鱼最大的优点就是产卵多、体外胚胎发育、体积小、容易养活 ,除此以外 ,很多的分子、细胞、胚胎和基因操作在斑马鱼身上都很容…     

动态复杂性状遗传结构研究的统计模型

许多重要的农艺性状、生物学和生物医学性状都是数量性状，这些性状在不同的发育阶段发生变化，并表现出复杂的动态特征。针对这些动态性状，传统的遗传作图方法是通过在不同的年龄或发育阶段利用遗传标记与表型性状进行关联分析，并比较这些性状在不同发育阶段的差异，或者通过进行不同阶段的多位点作图进行分析。然而，这些方法并不能确切地反映整个发育过程和动态特点，这使得对性状遗传结构的推测受到限制。要克服这一困难，函数作图将为动态性状的遗传学研究提供一条有效的途径。函数作图综合了生物学机制的数学特性和性状遗传作图的统计学特点，结合统计模型、遗传学和发育生物学的函数作图策略，力求解决诸如发育的遗传控制模式、QTL的持续效应以及引起发育过程中启动和终止的遗传机制等问题。笔者提出的函数作图策略将提供一个研究基因作用及互作与发育模式之间有效的量化检测平台。     

论应用多基因转化策略综合改良生物体遗传性研究方向的前景Ⅱ.多基因转化策略中的规律、前景和问题

随着后基因组时代的到来,人类将克隆到越来越多的、生物学意义明确的有用基因应用于基因工程对生物体的遗传改良中.但生物体的绝大多数性状和生理功能都是依靠多基因的协调表达而实现的.因此,多基因转化策略必将成为今后基因工程在基础理论与实际应用研究中的主流方向.综述了近年来中山大学生物工程研究中心∥基因工程教育部重点实验室在多基因改良农作物方面的研究工作和进展,分析了多基因转化中的基本规律和存在的问题,最后对多基因转化策略在未来的应用前景作出了简要的展望.     

论应用多基因转化策略综合改良生物体遗传性研究方向的前景Ⅰ.多基因转化的基因来源与技术平台

随着后基因组时代的到来,人类将克隆到越来越多的、生物学意义明确的有用基因应用于基因工程对生物体的遗传改良中.但生物体的绝大多数性状和生理功能都是依靠多基因的协调表达而实现的.因此,多基因转化策略必将成为今后基因工程在基础理论与实际应用研究中的主流方向.结合中山大学生物工程研究中心∥基因工程教育部重点实验室10多年来研究工作的实践体会,对发展多基因转化策略的意义和由来、多基因转化可用的基因资源和技术思路,进行了详细的论述.     

木兰叶绿体atpB和rbcL基因的系统进化分析

木兰科植物作为古老的类群,其杂交和形态多样以及趋同进化等特点导致传统分类出现很多不同结论。对生物类群进行种群的系统进化分析可以在一定程度上弥补传统分类方法的局限。叶绿体的母系遗传相对保守、分子水平差异明显,是绿色植物的标志性细胞器,因此叶绿体基因组常被用来进行植物的系统进化探究。本项研究利用phylip软件将NCBI核酸序列数据库中下载的21种木兰科植物叶绿体的atpB和rbcL基因序列760bp进行序列比对处理之后,进一步应用邻接法进行分子进化系统发生分析,构建系统发育进化树,从而得出木兰属中白玉兰、星花玉兰、锐叶木兰、北美大叶木兰、夜香木兰等在系统进化中的亲缘关系,为进一步对木兰属植物进行系统发生研究奠定基础。     

基于功能模块的基因表达谱聚类分析

按Gone Ontology基因功能分类体系，将基因模块化地组织成具有显著生物意义的低维功能模块单元，并将其作为新的分析指标用于分类微阵列疾病样本，从而提出了基于功能表达谱的聚类分析新途径、采用NCI60数据集，通过功能表达谱对组织样本进行聚类分析．结果显示，新算法不但得到高准确度的样本分型结果，而且能够直接从功能水平上给出相应的生物学解释．同时，用基于功能表达谱对组织样本进行聚类分析可以显著降低特征维数，有效地处理高检测误差与基因表达变异问题．     

Glyoxalase 1 and glutathione reductase 1 regulate anxiety in mice

Anxiety and fear are normal emotional responses to threatening situations. In human anxiety disorders--such as panic disorder, obsessive-compulsive disorder, post-traumatic stress disorder, social phobia, specific phobias and generalized anxiety disorder--these responses are exaggerated. The molecular mechanisms involved in the regulation of normal and pathological anxiety are mostly unknown. However, the availability of different inbred strains of mice offers an excellent model system in which to study the genetics of certain behavioural phenotypes. Here we report, using a combination of behavioural analysis of six inbred mouse strains with quantitative gene expression profiling of several brain regions, the identification of 17 genes with expression patterns that correlate with anxiety-like behavioural phenotypes. To determine if two of the genes, glyoxalase 1 and glutathione reductase 1, have a causal role in the genesis of anxiety, we performed genetic manipulation using lentivirus-mediated gene transfer. Local overexpression of these genes in the mouse brain resulted in increased anxiety-like behaviour, while local inhibition of glyoxalase 1 expression by RNA interference decreased the anxiety-like behaviour. Both of these genes are involved in oxidative stress metabolism, linking this pathway with anxiety-related behaviour.     

ACE2、AT2R、eNOS基因与原发性高血压相关性研究

原发性高血压（EH）是一种由遗传因素和环境因素共同作用导致的严重危害人类健康的心血管疾病。高血压疾病基因的研究有助于高血压发病机制的探讨,对其早期预防和及时治疗具有十分重要的理论意义和巨大的临床应用前景。至今研究者们已经发现有一百多种基因与原发性高血压的发病有关,特别是内皮型一氧化氮合酶（eNOS）更是研究的热点。已经确定肾素血管紧张素系统（RAS）在调控心血管功能时发挥重要作用,最近又在该系统中新发现了两个成员——血管紧张素转换酶2（ACE2）和血管紧张素Ⅱ2型受体（AT2R）,但是对其研究报道较少。文章分别从eNOS,ACE2和AT2R的生物学特性和作用机制的情况,探讨其与原发性高血压的相关性。     

The Drosophila melanogaster Genetic Reference Panel

A major challenge of biology is understanding the relationship between molecular genetic variation and variation in quantitative traits, including fitness. This relationship determines our ability to predict phenotypes from genotypes and to understand how evolutionary forces shape variation within and between species. Previous efforts to dissect the genotype-phenotype map were based on incomplete genotypic information. Here, we describe the Drosophila melanogaster Genetic Reference Panel (DGRP), a community resource for analysis of population genomics and quantitative traits. The DGRP consists of fully sequenced inbred lines derived from a natural population. Population genomic analyses reveal reduced polymorphism in centromeric autosomal regions and the X chromosome, evidence for positive and negative selection, and rapid evolution of the X chromosome. Many variants in novel genes, most at low frequency, are associated with quantitative traits and explain a large fraction of the phenotypic variance. The DGRP facilitates genotype-phenotype mapping using the power of Drosophila genetics.     

Epigenetic regulation of translation reveals hidden genetic variation to produce complex traits

Phenotypic plasticity and the exposure of hidden genetic variation both affect the survival and evolution of new traits, but their contributing molecular mechanisms are largely unknown. A single factor, the yeast prion [PSI(+)], may exert a profound effect on both. [PSI(+)] is a conserved, protein-based genetic element that is formed by a change in the conformation and function of the translation termination factor Sup35p, and is transmitted from mother to progeny. Curing cells of [PSI(+)] alters their survival in different growth conditions and produces a spectrum of phenotypes in different genetic backgrounds. Here we show, by examining three plausible explanations for this phenotypic diversity, that all traits tested involved [PSI(+)]-mediated read-through of nonsense codons. Notably, the phenotypes analysed were genetically complex, and genetic re-assortment frequently converted [PSI(+)]-dependent phenotypes to stable traits that persisted in the absence of [PSI(+)]. Thus, [PSI(+)] provides a temporary survival advantage under diverse conditions, increasing the likelihood that new traits will become fixed by subsequent genetic change. As an epigenetic mechanism that globally affects the relationship between genotype and phenotype, [PSI(+)] expands the conceptual framework for phenotypic plasticity, provides a one-step mechanism for the acquisition of complex traits and affords a route to the genetic assimilation of initially transient epigenetic traits.     

梨遗传转化与遗传标记研究进展

用遗传转化的方法对梨进行遗传改良和用分子生物学的方法研究梨的遗传性状是当今梨科研的热点,基因型、抗菌肽的活性与稳定性、农杆菌的侵染力等是影响梨遗传转化的重要因素．DNA的提取方法决定DNA的数量和质量,直接影响分子生物学方法在梨中的应用和应用结果．本文综合有关文献综述了国内外梨遗传转化和遗传标记研究所取得的进展,并结合存在的问题对今后的工作重点提出了几点建议．     

Advances on methods for mapping QTL in plant

Advances on methods for mapping quantitative trait loci (QTL) are firstly summarized. Then, some new methods, including mapping multiple QTL, fine mapping of QTL, and mapping QTL for dynamic traits, are mainly described. Finally, some future prospects are proposed, including how to dig novel genes in the germplasm resource, map expression QTL (eQTL) by the use of all markers, phenotypes and micro-array data, identify QTL using genetic mating designs and detect viability loci. The purpose is to direct plant geneticists to choose a suitable method in the inheritance analysis of quantitative trait and in search of novel genes in germplasm resource so that more potential genetic information can be uncovered.     

籼型多分蘖矮秆突变体的遗传分析及其相关生理特性

籼型多分蘖矮秆突变体“佳禾丛矮”(Jiahecongai,JHCA)是本研究室在进行成熟花粉辐照诱变育种过程中发现的.遗传分析表明,JHCA同时携带互不等位的半矮秆基因sd-1和另一个由核基因隐性突变造成的多分蘖矮秆基因,暂命名为xmd(t).从JHCA与野生型高秆品种“广场13”(GC13)的杂交后代中分离出只带xmd(t)且遗传稳定的单基因型突变品系“新佳丛”( Xinjiacong,XJC).为揭示xmd(t)突变所造成的多分蘖与茎秆矮化协同出现的机理,对XJC的相关生理特性进行了分析.全生育期去除分蘖芽的试验表明,突变体植株的矮化是由于或部分由于过多分蘖的发生所造成的,该突变体的实质是多分蘖突变体.显微分析和田间分蘖动态观察表明,突变体多分蘖特性的形成是由于分蘖芽发生更早、分糵级数多、分蘖节位更高,且分蘖持续时间更长所造成的.本研究也表明,多分蘖矮秆突变体是研究水稻分蘖分子机理的理想材料.