A plan for the mouse genome project

The National Center for Human Genome Research and the Department of Energy convened a committee of geneticists and biologists who use the laboratory mouse in their research programs. Their responsibility was to identify goals and guidelines for completing the genetic and physical maps of the mouse genome. The motivation for convening this group was to make certain that existing and anticipated research projects together represent a comprehensive program for addressing the Five Year Goals of the Human Genome Project. Three meetings were held: the first addressed the contributions that the mouse can make to the Human Genome Project; the second meeting reviewed the status of the genetic map, gene mapping research, and genome informatics; and the final meeting evaluated the status of the physical map and physical mapping research. The committee then prepared a report that reviewed the status of the mouse genome project and made recommendations concerning areas of research emphasis. The resulting Request For Applications entitled Mapping the Mouse Genome with Emphasis on Technology Development (RFA: HG92-002) is an important mechanism for coordinating mouse genome research and accomplishing the goals of the mouse genome project. Progress towards complete genetic and physical maps has been impressive. The genetic map should be completed on schedule, and ongoing physical mapping projects are promising. Given rapid progress on these maps, the Working Group proposed expanding the focus of the mouse genome effort to begin planning comprehensive approaches for characterizing the function of the large number of genes that will soon be mapped and eventually sequenced. Partly as a consequence of the Working Group's efforts, discussions have begun among members of the scientific community and National Institutes of Health (NIH) staff to plan comprehensive, efficient, and innovative approaches for studying gene function. The Working Group prepared a report summarizing the status of mouse genome research and recommending areas where effort and funding should be placed. Our report was submitted to and accepted by the NIH and Department of Energy (DOE) and is published here in its entirety.Verne M. Champman, Chair, Neal G. Copeland, Franklin D. Costantini, William F. Dove, Joseph H. Nadeau, Roger H. Reeves, Janet Rossant, Oliver Smithies, and Richard P. Woychik.     

马基因组研究进展

各种生物都具有其独特的遗传信息, 深入了解生物体的形成过程以及各种生命活动都离不开基因组的研究成果。由于在世界范围内马具有良好的健康情况记录和详细的系谱记录, 使得马成为生命科学研究中极具价值的模式动物。尽管起步较晚, 但在过去的几年中, 马基因组图谱经历了前所未有的发展。文章主要对近年来马基因组遗传图谱、物理图谱、基因组比较作图以及功能基因组学等研究进展进行了综述, 这些图谱也正是世界各地研究人员用以探寻与马的各种性状(包括全部的健康状况、抗病性能、生殖生育能力、运动性能以及诸如毛色这样的表型特征等)相关基因的重要工具。相信这些研究成果将为马匹疾病预防、诊断和治疗提供新的思路与方法, 并将为马遗传育种提供更好的选配依据。     

Genes after the human genome project

While the Human Genome Nomenclature Committee (HGNC) concept of the gene can accommodate a wide variety of genomic sequences contributing to phenotypic outcomes, it fails to specify how sequences should be grouped when dealing with complex loci consisting of adjacent/overlapping sequences contributing to the same phenotype, distant sequences shown to contribute to the same gene product, and partially overlapping sequences identified by different techniques. The purpose of this paper is to review recently proposed concepts of the gene and critically assess how well they succeed in addressing the above problems while preserving the degree of generality achieved by the HGNC concept. I conclude that a dynamic interplay between mapping and syntax-based concepts is required in order to satisfy these desiderata.     

生物信息学与人类基因组计划

生物信息学是20世纪80年代末随着人类基因组计划启动而兴起的一门新的交叉学科人类基因组研究中的海量数据处理问题需要通过生物信息学来解决。     

Impact of the human genome project on pediatric endocrinology

A genomic approach to human biology involves examination of the entire complement of human genes and their protein products in contradistinction to the conventional phenomena-driven examination of individual components, one at a time. This approach may have limitations, but it also has the potential to increase our knowledge by an order of magnitude or more. It is expected that it will leave no field of biology and medicine unaffected, and this includes endocrinology. The structural and functional aspects of the human genome are reviewed, and the nature of the novel knowledge from the genome effort (acquired or expected) is described. More importantly, an overview is given of new ways of thinking and new approaches to endocrine research using genomic concepts and tools. Although these research breakthroughs have relatively few applications in clinical practice at the present moment, the clinician must expect drastic changes in diagnostics and therapeutics in the next decade or two, and endocrine- specific examples of such applications are given. Finally, the question is raised of social and ethical issues that these developments are generating.     

人类基因组计划大事记

今年 2月中旬 ,《Ｎａｔｕｒｅ》与《Ｓｃｉｅｎｃｅ》分别发表了人类基因组工作框架图 (ｔｈｅｄｒａｆｔｇｅｎｏｍｅ) ,这是人类基因组计划 (ＨｕｍａｎＧｅｎｏｍｅＰｒｏｊｅｃｔ,ＨＧＰ)实施以来所取得的最重大进展 ,也是生命科学领域中的一个里程碑 .自人类基因组计划提出以来 ,到现在一共 15年 .这 15年来科学家们所走过的是一条充满艰辛的路 ,同时也是一条谱写辉煌的路 .回顾这段将在人类历史上永载史册的光辉历程 ,相信对每一位科学殿堂里的探索者都会大有启迪 .为此 ,参考有关资料 ,我们将这段时期围绕基因组测序所发生的重大事…     

国际人类基因组单体型图计划

人类基因组单体型图(Haplotypemap,以下简称HapMap)计划是与不久前完成的基因组测序计划相当的又一多国参与的重大国际合作项目,也是人类基因组研究领域的第2个重大战略目标。其目的是在通过测序了解了遗传基本信息的基础上,进一步确立世界上主要族群基因组的遗传变异图谱。这一计划的主要     

Progress in the detection of human genome structural variations

The emerging of high-throughput and high-resolution genomic technologies led to the detection of submicroscopic variants ranging from 1 kb to 3 Mb in the human genome. These variants include copy number variations (CNVs), inversions, insertions, deletions and other complex rearrangements of DNA sequences. This paper briefly reviews the commonly used technologies to discover both genomic structural variants and their potential influences. Particularly, we highlight the array-based, PCR-based and sequencing-based assays, including array-based comparative genomic hybridization (aCGH), representational oligonucleotide microarray analysis (ROMA), multiplex amplifiable probe hybridization (MAPH), multiplex ligation-dependent probe amplification (MLPA), paired-end mapping (PEM), and next-generation DNA sequencing technologies. Furthermore, we discuss the limitations and challenges of current assays and give advices on how to make the database of genomic variations more reliable. Supported by the National High Technology Research and Development Program of China (Grant No. 2006AA020704).