酿酒酵母基因组的研究进展

酿酒酵母(Saccharomyces cerevisiae)是第一个完成全基因组测序工作的真核生物,目前在结构基因组学、功能基因组学、模式生物、最小基因组、比较基因组学等方面的研究已经获得了重大的进展,为人类更深入地研究高等生物基因组打下了坚实的基础。本文将从这几个方面着手对酿酒酵母基因组的研究进展进行综述。     

21世纪医学主要进展的预测--以人类后基因组研究为主要特征的医学革命时代

21世纪将是生命科学取得革命性飞跃性进展的时代,同时也是医学上取得伟大进展的时代.这个时代是以功能基因组即后基因组时代为主要特征而发展的,作者从21世纪人类功能基因组将取得的进展;治疗着眼于基因水平;诊断学上的革命;基因治疗将取得的成功;未来医学将把保健、预防、治疗、康复视为整体加以安排;新型有效药物将大量涌现;中医药将取得现代化的发展;人体报废的组织及器官的修复和更替置换;老年人疾病的预防、治疗和寿命的延长以及其它有关问题等十个方面预测了21世纪医药学发展的方方面面,为未来医药学发展提供了轮廓,指明了方向.     

酿酒酵母功能基因组学研究进展

随着各种微生物基因组序列信息的积累和测序工作的不断完成,酿酒酵母基因组学研究的重点已由传统的结构基因组学发展到了功能基因组学,并从单一的基因功能研究转向多个或整个基因组系统地去了解真核生物生命活动的本能。对基因组学水平上酿酒酵母功能基因的生物芯片分析,代谢通路和功能图谱,以及比较基因组学研究进行综述。     

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…     

Evolutionary analyses of the human genome

The completion of the human genome will greatly accelerate the development of a new branch of science--evolutionary genomics. We can now directly address important questions about the evolutionary history of human genes and their regulatory sequences. Computational analyses of the human genome will reveal the number of genes and repetitive elements, the extent of gene duplication and compositional heterogeneity in the human genome, and the extent of domain shuffling and domain sharing among proteins. Here we present some first glimpses of these features.     

蛋白质组学用于疾病特殊蛋白质的鉴定

蛋白质组学是一门新的启动技术.它将便利越过一切生物学系统或疾病的蛋白质系统分析.在疾病特殊蛋白质的鉴别过程蛋白质组学高度补充基因组方法,且第一次提供科学家使蛋白质组信息,表达mRNA,它们各自的蛋白质和亚细胞定位一体化的能力.期望会导致对疾病机制新的重大认识.     

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers approximately 99% of the euchromatic genome and is accurate to an error rate of approximately 1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human genome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead.     

RNAi技术及其在基因组学研究中的应用

RNA干扰（RNA interference,RNAi）是一种真核生物体内的基因调控机制．在介绍RNAi的作用机制及作用特点的基础上,综述了其在基因功能研究、基因组免疫系统、人类疾病的基因治疗及水产养殖病害的防治等基因组学研究领域的最新进展与应用．     

21世纪生命科学展望

以近 2 0年来生命科学领域所取得的巨大成就为依据论述了 2 1世纪生命科学在自然科学中的领头地位。同时 ,对 2 1世纪生命科学的几个重要研究领域进行了评述 ,其中包括人类基因组计划、基因组学与发育生物学的关系、基因组学与生物进化及生命起源的关系、生物信息学的作用和地位 ,以及现代生物技术的开发应用对 2 1世纪人类生活的影响。     

Exploring genome space

The completion of entire genome sequences of many experimental organisms, and the promise that the human genome will be completed in the next year, find biology suddenly awash in genome-based data. Scientists are scrambling to develop new technologies that exploit genome data to ask entirely new kinds of questions about the complex nature of living cells.     

Integration of cytogenetic landmarks into the draft sequence of the human genome

We have placed 7,600 cytogenetically defined landmarks on the draft sequence of the human genome to help with the characterization of genes altered by gross chromosomal aberrations that cause human disease. The landmarks are large-insert clones mapped to chromosome bands by fluorescence in situ hybridization. Each clone contains a sequence tag that is positioned on the genomic sequence. This genome-wide set of sequence-anchored clones allows structural and functional analyses of the genome. This resource represents the first comprehensive integration of cytogenetic, radiation hybrid, linkage and sequence maps of the human genome; provides an independent validation of the sequence map and framework for contig order and orientation; surveys the genome for large-scale duplications, which are likely to require special attention during sequence assembly; and allows a stringent assessment of sequence differences between the dark and light bands of chromosomes. It also provides insight into large-scale chromatin structure and the evolution of chromosomes and gene families and will accelerate our understanding of the molecular bases of human disease and cancer.     

Positive Darwinian selection in human population: A review

This paper reviews a large number of genes under positive Darwinian selection in modern human populations, such as brain development genes, immunity genes, reproductive related genes, percep- tion receptors. The research on the evolutionary property of these genes will provide important insight into human evolution and disease mechanisms. With the increase of population genetics and com- parative genomics data, more and more evidences indicate that positive Darwinian selection plays an indispensable role in the origin and evolution of human beings. This paper will also summarize the methods to detect positive selection, analyze the interference factors faced and make suggestions for further research on positive selection.     

林木分子育种研究的基因组学信息资源述评

分子育种是指利用与性状相关的DNA标记进行选育,也称标记辅助选择或标记辅助育种,广义上还包括基因工程育种和基因组学辅助育种。林木分子育种为早期选择和加速育种提供了极具潜力的高效手段。笔者对林木分子育种研究的基因组学信息资源进行了进展综述和前景展望。近30年来,林木分子标记技术从早期的低通量方法发展到目前基于微阵列芯片和新一代测序的高通量技术,如测序分型、转录组测序、重测序、扩增子测序和外显子组测序等,并广泛用于连锁作图、关联分析和基因组选择等林木性状相关的DNA变异检测研究。随着2006年毛果杨基因组序列的发表,已有50余个树种完成了基因组测序。基于连锁作图和关联研究检测了林木10余个属生长、材性和抗逆及非木质产品品质等性状相关的大量基因组位点,主要趋势表现为：① 表型广泛,涵盖经济性状、生理指标和代谢成分等;②标记数量成千上万甚至上百万,覆盖全基因组;③转录组和降解组等多组学的分子变异开始应用;④ 利用大群体以提高位点检测的精度;⑤ 重视环境的影响,大田试验设置多个地点,解析QTL与环境、年份的互作效应;⑥ 结合参考基因组序列和/或转录组差异表达基因进一步挖掘性状相关的候选基因,建立了桉属、松属和云杉属等主要造林树种的基因组选择模型。此外,积累了泛基因组、相关软件和算法、功能基因、基因组编辑技术及网站和数据库等其他信息资源。林木分子育种面临的挑战主要包括：① 如何获得稳定性好的性状相关基因组位点和基因组选择（GS）模型;② 缺乏自动化、无损和高通量的表型测定技术;③对大基因组的针叶树和一些多倍体树种,仍难获得高质量的基因组序列;④ 标记辅助选择增加了常规育种之外的费用,且存在不确定性;⑤多数树种的加速育种仍较困难。后基因组时代的林木分子育种将有效结合到常规育种程序中,显著促进遗传增益的提高。     

幽门螺杆菌 N-末端肽序列的模式分类

针对胃病原体幽门螺杆菌Ｈ．ｐｙｌｏｒｉ基因组对象相关的Ｎ－末端肽序列,提出了一种新的基于粗糙集的模式分类器方法,并阐述了相应的设计过程;所构造的模式分类器模型具有灵活的粗糙集表示结构,并与有效的粗糙集模式分类机制有着有机的联系．该方法不仅在非确定性信息处理方面具有理论意义,而且在将高新科技手段应用于生命科学前沿领域方面,是一种非常有益的探索,相应的计算机实验结果表明了该研究方法的有效性和实用性．     

Malaria research in the post-genomic era

For many pathogens the availability of genome sequence, permitting genome-dependent methods of research, can partially substitute for powerful forward genetic methods (genome-independent) that have advanced model organism research for decades. In 2002 the genome sequence of Plasmodium falciparum, the parasite causing the most severe type of human malaria, was completed, eliminating many of the barriers to performing state-of-the-art molecular biological research on malaria parasites. Although new, licensed therapies may not yet have resulted from genome-dependent experiments, they have produced a wealth of new observations about the basic biology of malaria parasites, and it is likely that these will eventually lead to new therapeutic approaches. This review will focus on the basic research discoveries that have depended, in part, on the availability of the Plasmodium genome sequences.     

Keeping time with the human genome

The cloning and characterization of 'clock gene' families has advanced our understanding of the molecular control of the mammalian circadian clock. We have analysed the human genome for additional relatives, and identified new candidate genes that may expand our knowledge of the molecular workings of the circadian clock. This knowledge could lead to the development of therapies for treating jet lag and sleep disorders, and add to our understanding of the genetic contribution of clock gene alterations to sleep and neuropsychiatric disorders. The human genome will also aid in the identification of output genes that ultimately control circadian behaviours.     

Functional genomics in the rice blast fungus to unravel the fungal pathogenicity

A rapidly growing number of successful genome sequencing projects in plant pathogenic fungi greatly increase the demands for tools and methodologies to study fungal pathogenicity at genomic scale. Magnaporthe oryzae is an economically important plant pathogenic fungus whose genome is fully sequenced. Recently we have reported the development and application of functional genomics platform technologies in M. oryzae. This model approach would have many practical ramifications in design and implementation of upcoming functional genomics studies of filamentous fungi aimed at understanding fungal pathogenicity.     

利用基因打靶技术研制人类疾病小鼠模型

宏伟的人类基因组计划的顺利实施使人类真正进入了功能基因组学研究的新时代 ,与日俱增的大量遗传信息正对生物医学的研究方式和医疗模式产生巨大的影响。发展和应用针对全基因组或全系统的高通量、大规模的整体实验手段 ,利用结构基因组学提供的信息和材料研究基因的功能将成为这个时代生物医学研究的主要特征。基因功能是在由细胞组成的多层次的复杂生命体中实现的 ,因此 ,功能基因组学的研究将会在极大程度上依赖于对模式生物的研究。小鼠作为被研究的脊椎动物 ,尤其具备作为哺乳动物的模式生物具有独特的优势 :首先小鼠是具有较短世代周…     

2022年生命科学热点回眸

2022年，为应对全球新冠疫情和其他各种严重疾病，病毒疫苗开发和基因治疗领域的研究都取得了突破性进展，对于粮食作物种植和人类基因组学的研究也有了振奋人心的发现。选取了Omicron变异株、猴痘、呼吸道合胞病毒疫苗、EBV可能导致多发性硬化症、猪器官移植到人体、猪心停跳后恢复全身多器官功能、持续生产的多年生水稻、小麦条锈病分子机制、提高玉米蛋白含量和氮利用率、基因编辑技术和疗法、人类基因组无间隙序列、古基因组学等方面的研究成果进行解读。