比较基因组学和人类基因组研究

在人类基因组计划突飞猛进地开展的同时,模式生物基因组计划也在轰轰烈烈地进行,并取得许多实质性的进展,是人类对于模式生物基因组有了更广泛更深刻的认识。这些知识的积累,从根本上推动了人类基因组计划的进行。     

Helminth Genomics: The Implications for Human Health

More than two billion people (one-third of humanity) are infected with parasitic roundworms or flatworms, collectively known as helminth parasites. These infections cause diseases that are responsible for enormous levels of morbidity and mortality, delays in the physical development of children, loss of productivity among the workforce, and maintenance of poverty. Genomes of the major helminth species that affect humans, and many others of agricultural and veterinary significance, are now the subject of intensive genome sequencing and annotation. Draft genome sequences of the filarial worm Brugia malayi and two of the human schistosomes, Schistosoma japonicum and S. mansoni, are now available, among others. These genome data will provide the basis for a comprehensive understanding of the molecular mechanisms involved in helminth nutrition and metabolism, host-dependent development and maturation, immune evasion, and evolution. They are likely also to predict new potential vaccine candidates and drug targets. In this review, we present an overview of these efforts and emphasize the potential impact and importance of these new findings.     

Human Molecular Genetics: Research in Medical Genomics and Ethnogenomics

The review covers selected research topics in the fields of medical and ethnic genomics conducted at the Department of Molecular Bases of Human Genetics, the Institute of Molecular Genetics. Primary concern is given to genetic causes of monogenic neurological disorders, among them hepatolenticular degeneration (Wilson disease), torsion dystonia, and myotonic dystrophy. Results of polymorphic DNA marker surveys in Russia and neighboring countries are also presented.     

细胞筛选平台在人类功能基因组研究中的应用

人类基因组全序列的精细图已完成,当前生命科学面临的重要任务就是如何将基因组序列信息转化为基因的功能信息,了解生命活动的分子机理,改善人类健康,为生物技术发展提供动力 . 在一系列功能基因组研究新技术中,高通量 (high-throughput) 和高内涵 (high-content) 的细胞筛选技术平台已经显示出巨大潜力,发挥着越来越重要的作用 . 通过在体外培养的哺乳动物细胞中基因过表达或抑制基因表达,分析所产生信号传导通路和 / 或细胞表型改变,可以直接发现基因功能 . 近年来一些技术上的进展,使细胞筛选平台具有微量、自动、高效、高通量,以及可以系统研究的特点,已经成为功能基因组研究的核心方法之一 . 近 2~3 年来已经出现一批成功应用细胞筛选平台进行大规模功能基因组研究的报道 . 我国在这一领域的研究也开始起步,将对我国生物技术的源头创新研究产生深远的影响 .     

桉树基因组和功能基因组

本文就桉树基因组和功能基因组的研究进展作介绍。     

High-throughput Functional Genomics Identifies Regulators of Primary Human Beta Cell Proliferation

The expansion of cells for regenerative therapy will require the genetic dissection of complex regulatory mechanisms governing the proliferation of non-transformed human cells. Here, we report the development of a high-throughput RNAi screening strategy specifically for use in primary cells and demonstrate that silencing the cell cycle-dependent kinase inhibitors CDKN2C/p18 or CDKN1A/p21 facilitates cell cycle entry of quiescent adult human pancreatic beta cells. This work identifies p18 and p21 as novel targets for promoting proliferation of human beta cells and demonstrates the promise of functional genetic screens for dissecting therapeutically relevant state changes in primary human cells.     

从结构基因组学到功能基因组学

基因组学研究随着模式生物基因组全序列测定的完成由结构基因组学阶段发展到功能基因组学阶段,基因组学成为当今最为活跃、最有影响的前沿学科.以结构基因组学的研究成果为基础,功能基因组学中各学科因其原理不同及其关键技术的特点和优势,具有各自的应用范畴和发展趋势.功能基因组学不断渗透入现代科学的各领域,促成了适用于不同研究目的新兴学科的诞生.     

2009 International Conference on Genomics （ICG IV） Human and Beyond

Thanks to the new breakthroughs in sequencing technology, the throughput has been increasing and the cost has been decreasing in a dramatic speed since 2006 International Conference on Genomics （ICG I） when the prediction about it was made. How close are we to the personalized medicine era？