Genome studies at the PAG 2011 conference

The contents of the plenary lectures presented at the Plant and Animal Genome (PAG) meeting in January 2011 are summarized in order to provide some insights into the advances in plant, animal and microbe genome studies as they impact on our understanding of complex biological systems. The areas of biology covered include the dynamics of genome change, biological recognition processes and the new processes that underpin investment in science. This overview does not attempt to summarize the diversity of activities that are covered during the PAG through workshops, posters and the suppliers of cutting-edge technologies, but reviews major advances in specific research areas.     

Advances in genome studies: the PAG 2010 conference

An overview is provided of the advances in plant, animal and human genome studies by summarizing the contents of seven plenary lectures presented at the Plant and Animal Genome (PAG) meeting in January 2010. The area of biology covered was wide and reflected the nature of this fast moving science.     

Convergence of human pluripotent stem cell,organoid, and genome editing technologies

The last decade has seen many exciting technological breakthroughs that greatly expanded the toolboxes for biological and biomedical research, yet few have had more impact than induced pluripotent stem cells and modern-day genome editing. These technologies are providing unprecedented opportunities to improve physiological relevance of experimental models, further our understanding of developmental processes, and develop novel therapies. One of the research areas that benefit greatly from these technological advances is the three-dimensional human organoid culture systems that resemble human tissues morphologically and physiologically. Here we summarize the development of human pluripotent stem cells and their differentiation through organoid formation. We further discuss how genetic modifications, genome editing in particular, were applied to answer basic biological and biomedical questions using organoid cultures of both somatic and pluripotent stem cell origins. Finally, we discuss the potential challenges of applying human pluripotent stem cell and organoid technologies for safety and efficiency evaluation of emerging genome editing tools.     

Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research

The beginning of this millennium has seen dramatic advances in genomic research. Milestones such as the complete sequencing of the human genome and of many other species were achieved and complemented by the systematic discovery of variation at the single nucleotide (SNP) and whole segment (copy number polymorphism) level. Currently most genomics research efforts are concentrated on the production of whole genome functional annotations, as well as on mapping the epigenome by identifying the methylation status of CpGs, mainly in CpG islands, in different tissues. These recent advances have a major impact on the way genetic research is conducted and have accelerated the discovery of genetic factors contributing to disease. Technology was the critical driving force behind genomics projects: both the combination of Sanger sequencing with high-throughput capillary electrophoresis and the rapid advances in microarray technologies were keys to success. MALDI-TOF MS-based genome analysis represents a relative newcomer in this field. Can it establish itself as a long-term contributor to genetics research, or is it only suitable for niche areas and for laboratories with a passion for mass spectrometry? In this review, we will highlight the potential of MALDI-TOF MS-based tools for resequencing and for epigenetics research applications, as well as for classical complex genetic studies, allele quantification, and quantitative gene expression analysis. We will also identify the current limitations of this approach and attempt to place it in the context of other genome analysis technologies.     

Assessing gene-gene interactions in pharmacogenomics

In pharmacogenomics studies, gene-gene interactions play an important role in characterizing a trait that involves complex pharmacokinetic and pharmacodynamic mechanisms, particularly when each involved feature only demonstrates a minor effect. In addition to the candidate gene approach, genome-wide association studies (GWAS) are widely utilized to identify common variants that are associated with treatment response. In the wake of recent advances in scientific research, a paradigm shift from GWAS to whole-genome sequencing is expected, because of the reduced cost and the increased throughput of next-generation sequencing technologies. This review first outlines several promising methods for addressing gene-gene interactions in pharmacogenomics studies. We then summarize some candidate gene studies for various treatments with consideration of gene-gene interactions. Furthermore, we give a brief overview for the pharmacogenomics studies with the GWAS approach and describe the limitations of these GWAS in terms of gene-gene interactions. Future research in translational medicine promises to lead to mechanistic findings related to drug responsiveness in light of complex gene-gene interactions and will probably make major contributions to individualized medicine and therapeutic decision-making.     

基因组编辑技术在猪遗传改良中的应用

核酸酶介导的基因组编辑技术大幅度提高了编辑真核细胞基因组的能力,给生命科学领域带来了革命性地发展,也给猪的遗传改良带来了全新的契机。本文介绍了基因组编辑技术尤其是CRISPR/Cas9系统的发展以及各种天然存在的和人为改造的Cas9变体的作用特点;汇总了利用基因组编辑技术提高猪生产性能,尤其是改善猪肉品质和抵抗病毒感染的研究进展;分析了目前利用基因组编辑技术推进猪遗传改良所面临的挑战;最后,展望了基于基因组编辑技术的猪遗传改良和品种培育的发展趋势。     

2021年中国植物科学重要研究进展

2021年中国植物科学家在国际综合性学术期刊及植物科学主流期刊发表的论文数量相比2020年显著增加, 在雌雄细胞识别与受精、干细胞命运决定、菌根共生、光合膜蛋白复合体、氮磷养分利用、先天免疫、作物从头驯化与基因组设计等方面取得了重要研究进展,“异源四倍体野生稻快速从头驯化”入选2021年度“中国生命科学十大进展”。该文总结了2021年度我国植物科学研究取得的成绩, 简要介绍了30项重要进展, 以帮助读者了解我国植物科学的发展态势, 思考如何更好地将植物科学研究与国家重大需求有效衔接。     

荧光原位杂交技术的研究进展

荧光原位杂交(FISH)是在染色体、间期细胞核和DNA纤维上进行DNA序列定位的一种有效手段。近年来,围绕提高检测的分辨率和灵敏性,不断将免疫染色、量子点和微流控芯片等物理化学技术引入到荧光原位杂交中,促进了它的快速发展。本文主要综述了荧光原位杂交的基本原理和发展历程,重点介绍了免疫染色-荧光原位杂交(immuno-FISH)、量子点-荧光原位杂交(QD-FISH)和微流控芯片-荧光原位杂交(FISH on microchip)等多种新技术及其检测特点,如快速、灵敏、动态、多样化等。随着荧光原位杂交技术的不断完善与发展,将在细胞遗传学、表观遗传学及分子生物学等领域发挥更加重要的作用。     

Single nucleotide polymorphism seeking long term association with complex disease

Successful investigation of common diseases requires advances in our understanding of the organization of the genome. Linkage disequilibrium provides a theoretical basis for performing candidate gene or whole-genome association studies to analyze complex disease. However, to constructively interrogate SNPs for these studies, technologies with sufficient throughput and sensitivity are required. A plethora of suitable and reliable methods have been developed, each of which has its own unique advantage. The characteristics of the most promising genotyping and polymorphism scanning technologies are presented. These technologies are examined both in the context of complex disease investigation and in their capacity to face the unique physical and molecular challenges (allele amplification, loss of heterozygosity and stromal contamination) of solid tumor research.     

Tissue microdissection techniques in quantitative genome and gene expression analyses

Current advances in quantitative genome and gene expression analyses allow precise molecular genetic fingerprinting of tumor tissues. A crucial factor for the reliability of the data obtained with these refined techniques is the use of morphologically well-defined cell populations. Microdissection technology has been developed to procure pure cell populations from specific areas of tissue sections under microscopic control. This review covers techniques of tissue microdissection in the context of commonly used methods of quantitative genome and gene expression analysis. The first part of the review will summarize the technical aspects of various methods developed for tissue microdissection. In the latter part, current applications of quantitative genome and gene expression analysis techniques employed in microdissected tissue samples will be described.     

Modern methods of genome sequencing and their application for deciphering genomes of microorganisms

Development of new methods for genome sequencing allows rapid and relatively inexpensive determination of the large volumes of nucleotide sequences and opens new possibilities to conduct fundamental and applied research in biology, medicine, and biotechnology. The traditional and the newest methods of genome sequencing of microorganisms including the Sanger sequencing method, parallel pyrosequencing (454 Life Sciences/Roche), Solexa/Illumina technologies, and ligation-based sequencing (SOLiD System) are discussed in the current review. The main areas and prospects of applying various sequencing methods to achieve diverse scientific goals are presented. The possibilities of applying methods of parallel pyrosequencing for deciphering genomes of microorganisms are reviewed, using as an example the genome projects completed at the Bioengineering Center, Russian Academy of Sciences.