2015年中国医学遗传学研究领域若干重要进展

2015年中国医学遗传学稳步发展,众多具有原创性的研究论文在国际顶级杂志上发表。中国科学家在医学遗传学的诸多领域,如罕见疾病的致病基因、复杂疾病的易感基因、癌症的体细胞突变、遗传学新方法新技术、疾病相关微小RNA(microRNA,miRNA)、疾病相关长链非编码RNA(Long non-coding RNA,lncRNA)、疾病相关竞争性内源RNA(Competing endogenous RNA,ceRNA)、疾病相关可变剪接和分子进化等研究领域均取得了突破性的进展。中国科学家在医学遗传学研究中逐步从常见变异延伸到罕见变异,从遗传学现象的描述到功能机制的确证,从单组学分析扩展至多组学数据整合,从基础研究走向临床应用。同时,中国科学家的研究成果引起了国际同行的高度关注。本文概括性综述了2015年中国科学家在医学遗传学领域取得的若干重要研究进展,旨在追踪当前中国医学遗传学领域发展的前沿,与国内读者分享我国科学家在该领域取得的重要成果以及研究思路。     

Recent Progress on Rice Genetics in China

Through thousands of years of evolution and cultivation, tremendously rich genetic diversity has been accumulated in rice （Oryza sativa L.）, developing a large germplasm pool from which people can select varieties with morphologies of Interest and other important agronomic traits. With the development of modern genetics, scientists have paid more attention to the genetic value of these elite varieties and germplasms, and such rich rice resources provide a good foundation for genetic research in China. Approximately 100 000 accessions of radiation-, chemical- or insertion-induced mutagenesis have been generated since the 1980s, and great progress has been made on rice molecular genetics. So far at least 16 variant/mutant genes Including MOC1, BC1, SKC1, and Rfgenes have been isolated and characterized in China. These achievements greatly promote the research on functional genomics, understanding the mechanism of plant development and molecular design breeding of rice in China. Here we review the progress of three aspects of rice genetics in China： moving forward at the molecular level, genetic research on elite varieties and germplasms, and new gene screening and genetic analysis using mutants. The prospects of rice genetics are also discussed.     

2015年中国微生物遗传学研究领域若干重要进展

中国微生物遗传学研究在2015年取得了重要进展。本文回顾了2015年度中国本土科研团队在微生物遗传学领域取得的若干重要科研进展,扼要介绍了若干重点论文,展示了中国科学家在本领域的学术贡献。在基础微生物遗传学领域,明确了调控基因表达的一系列重要生物大分子的组成、结构和功能,解析了微生物免疫系统识别外源核酸片段的分子基础,阐明了多个微生物来源重要活性物质的生物合成途径及新颖的酶学反应过程,发现了微生物基因表达调控的新机理,在微生物发育、进化与群体行为生物学方面也取得一定进展。在工业微生物遗传学方面,阐明了微生物制造及其分子基础。在病原微生物遗传学方面,研究了多个致病菌的遗传调控,明晰了致病菌-宿主相互作用的遗传机制,在基因组水平解析了微生物耐药、新发病原和环境微生物的遗传机理,为致病菌防控新措施的研发提供了基础。在微生物多样性与环境微生物遗传学方面,展示了利用微生物遗传多样性的特点通过催化获得特定手性的化合物具有较好应用前景,肠道微生物组学研究方兴未艾。     

Medical and human genetics 1977: trends and directions

Our field is in a rapid state of evolution. The broader concerns of human genetics not of immediate medical interest such as behavioral genetics are often investigated by persons not trained or identified as human geneticists. Both medical genetics and human genetics in general have prospered when various biologic techniques have been applied to genetic concepts. A search for novel biologic methods may provide new insights and may bridge the gulf between Mendelian and biometric approaches in studies of behavior and of common diseases. Medical geneticists need to broaden their fields of interest to encompass other fields than those of pediatric interest alone. We need to attract more basic scientists. Our field is evolving from a largely research oriented science to a service-oriented specialty. This logical development is a sign of increasing maturity and makes available to the public the results of our research. The resulting stresses and strains need careful watching to prevent their slowing the momentum of our science which can contribute continued insights into the many problems of behavior, health, and disease.     

基因编辑动物模型在人类疾病研究中的应用

近年来,随着以CRISPR/Cas9为代表的多种CRISPR系统的开发和不断改进,基因编辑技术逐渐完善,并广泛应用于人类疾病动物模型的制备。基因编辑动物模型为人类疾病的发病机理、病理过程以及预防和治疗等方面的研究提供了重要的素材。目前,用于人类疾病研究的基因编辑动物模型主要有小鼠、大鼠为代表的啮齿类动物模型和以猪为代表的大动物模型。其中啮齿类动物在机体各方面与人类差别较大,且寿命短,无法对人类疾病的研究和治疗提供有效评估和长期追踪;而猪在生理学、解剖学、营养学和遗传学等各方面与人类更接近,是器官移植和人类疾病研究领域重要的动物模型。文中主要介绍了基因编辑动物模型在神经退行性疾病、肥厚心肌病、癌症、免疫缺陷类疾病和代谢性疾病等5种人类疾病研究中的应用情况,以期为人类疾病研究及相关动物模型的制备提供参考。     

Expert,healer, reassurer,hero and prophet: framing genetics and medical scientists in television news

Abstract

This paper is concerned with representations of the human genome and medical applications of modern biotechnology in Finnish television news. The main focus is on the way that news stories are framed by various linguistic and visual means and on how scientists appearing in the news are positioned. The qualitative analysis shows that in the national frame, biotechnology was treated as a field with great future promise, weighing the prospects of Finnish scientists to succeed in international competition. In the disease frame, the focus was on the achievements of genetic research in the treatment of serious diseases. In the breakthrough frame, it was predicted that genetics will revolutionise the treatment of diseases in ‘the near future’. Finally, news stories presented in the threat frame were mainly concerned to predict and avert problems arising from the potential abuse of genetic research. The analysis suggests that these frames implied certain speaking positions to the scientists appearing in the news stories.     

宿主遗传因素对肠道菌群的影响

随着高通量测序技术的发展,人们逐渐认识到肠道菌群与人类的健康和疾病密切相关,并发现肠道菌群受很多因素的影响。除了研究传统饮食和药物对肠道菌群的改变外,近年来,科学家也开始注重遗传因素在塑造肠道菌群中的作用。遗传因素可决定宿主的饮食偏好、肠道的生理结构、肠道屏障功能和免疫功能等,而这些都直接与肠道菌群相互作用,参与肠道微生态平衡的构建和稳定。因此,在研究肠道菌群与疾病发生相关性的过程中也需要考虑遗传因素的重要性。随着基因敲除、无菌小鼠和菌群移植等实验技术的革新,以及主成分分析、数量性状基因座和全基因组关联性分析等大数据分析手段的提高,科学家能够深入研究宿主遗传基因与肠道菌群之间的关联性,从而证明宿主遗传基因在塑造肠道微生态的过程中具有重要作用。本文将首先简述肠道菌群与疾病发生之间可能存在的联系,然后从多方面综述遗传因素对肠道菌群的影响及主要的研究进展,从而为今后该领域的深入研究提供重要的指导,也为今后预防和治疗疾病提供新思路和新方法。     

2015年中国动物遗传学研究领域若干重要进展

2015年中国科学家在动物遗传学领域的研究成果斐然。据不完全统计,2015年围绕线虫(Caenorhabditis elegans)、果蝇(Drosophila melanogaster)、斑马鱼(Danio rerio)、爪蛙(Xenopus)和小鼠(Mus musculus)等5个模式动物发表的论文中涉及中国的论文数约占总论文数的1/5,众多具有原创性的研究成果在国际高影响力的期刊上发表。例如：首次鉴定出潜在的磁受体MagR,为磁感应遗传与分子机制的研究带来了重大突破;揭示了褐飞虱(Nilaparvata lugens)翅多型性的遗传基础;首次证明在果蝇基因组中存在腺嘌呤的N⁶-甲基化;揭示了哺乳动物树突棘修剪与成熟的新的分子机制;发现CRTC2介导的信号通路调控肝脏脂代谢;发现神经递质多巴胺能够调节炎症反应;发现Gasdermin蛋白家族具有诱导细胞焦亡的功能;发现小清蛋白阳性的兴奋性视觉通路能够触发小鼠的恐惧反应等。2015年中国科学家在TALEN和CRISPR/Cas基因组靶向编辑技术领域同样做出了重要贡献。据不完全统计,其中涉及中国的论文占比多于1/5,覆盖了从线虫到灵长类的多种动物、多种基因组修饰方法,并且在世界上首次成功编辑了人类早期胚胎。中国在基因组序列测定与分析研究领域一如既往地保持世界领先,2015年中国科学家在动物基因组方面绘制了家鹅(Anser cygnoides)、壁虎(Gekko japonicus)、草鱼(Ctenopharyngodon idellus)和大黄鱼(Larimichthys crocea)的基因组序列图谱,完成了69头中国地方猪(Sus scrofa)的基因组重测序,分别分析了这些动物所独有的生理病理特征以及环境适应能力的遗传基础。本文首次尝试对以中国本土科研团队为主的动物遗传学领域若干重要科研进展进行年度回顾,并选取若干重点论文进行简要介绍,以彰显中国科学家在动物遗传学领域的科研实力和重要贡献。     

Investment in plant research and development bears fruit in China

Recent rapid progress in plant science and biotechnology in China demonstrates that China’s stronger support for funding in plant research and development (R&D) has borne fruit. Chinese groups have contributed major advances in a range of fields, such as rice biology, plant hormone and developmental biology, genomics and evolution, plant genetics and epigenetics, as well as plant biotechnology. Strigolactone studies including those identifying its receptor and dissecting its complex structure and signaling are representative of the recent researches from China at the forefront of the field. These advances are attributable in large part to interdisciplinary studies among scientists from plant science, chemistry, bioinformatics, structural biology, and agronomy. The platforms provided by national facilities facilitate this collaboration. As well, efficient restructuring of the top–down organization of state programs and free exploration of scientists’ interests have accelerated achievements by Chinese researchers. Here, we provide a general outline of China’s progress in plant R&D to highlight fields in which Chinese research has made significant contributions.     

氢气与肠道菌群的关系研究进展

目前,氢气已被证实在多种疾病中具有显著的医学效应,然而其发挥效应的分子机制并不清楚。肠道菌群被人们看作人体的一个重要“器官”,与人类健康的关系密不可分。研究表明,人类肠道菌群中存在着大量能够进行氢气代谢的菌群,这些菌群的变化可能与多种疾病的发生发展密切相关。此外,研究还发现外源氢气干预可能通过重塑肠道菌群改善炎症性肠病、脂肪性肝病等。综述了肠道菌群的氢气代谢及其与疾病发生发展的关系以及外源氢气干预通过调节肠道菌群影响疾病进展的相关研究,希望能为致力于从肠道菌群角度研究氢气医学效应的科研工作者提供帮助。     

Global trends in plant transgenic science and technology (1973-2003)

Transgenic science and technology are fundamental to state-of-the-art plant molecular genetics and GM crop improvement. Monitoring the scale and growth of this area of science is important to scientists, national and international research organizations, funding bodies, policy makers and, because of the GM debate, to society as a whole. Literature statistics covering the past 30 years reveal a dramatic increase in plant transgenic science in Asia during the past decade, a sustained expansion in North America and, recently, a slow down in the rest of the world. With the exception of the output of China and India, publications focusing on the development of transgenic technology have been slowing down, worldwide, since the early mid-1990s, a trend that contrasts with the increase in GM crop-related studies.     

Development of a genetics education workshop curriculum for Native American college and university students.

The long-term goal of Genetic Education for Native Americans (GENA), a project funded by the National Human Genome Research Institute (NHGRI), is to provide a balance of scientific and cultural information about genetics and genetic research to Native Americans and thereby to improve informed decision making. The project provides culturally sensitive education about genetic research to Native American medical students and college and university students. Curriculum development included focus groups, extensive review of available curricula, and collection of information about career opportunities in genetics. Special attention was focused on genetic research to identify key concepts, instructional methods, and issues that are potentially troublesome or sensitive for Native Americans. Content on genetic research and careers in genetics was adapted from a wide variety of sources for use in the curriculum. The resulting GENA curriculum is based on 24 objectives arranged into modules customized for selected science-related conference participants. The curriculum was pretested with Native American students, medical and general university, health care professionals, and basic scientists. Implementation of the curriculum is ongoing. This article describes the development and pretesting of the genetics curriculum for the project with the expectation that the curriculum will be useful for genetics educators working in diverse settings.     

2008年中国植物科学若干领域重要研究进展

在国家各类重大研究计划的持续支持和推动下, 2008年中国植物科学研究继续快速发展, 中国科学家在植物科学各领域中取得了大量的原创性研究成果, 尤其是在水稻株型功能基因组、水稻开花控制和种子发育、生殖隔离机制以及转基因生态安全研究等方面取得了一系列重大进展, 受到了国内外的广泛关注。该文对2008年中国本土科学家在植物生命科学若干领域取得的重要研究进展进行概括性评述, 旨在全面追踪当前中国植物科学领域发展的最新前沿和热点事件, 并展现我国科学家所取得的杰出成就。     

鲸类远距离活体采样技术发展概述及其在中国鲸类研究中的应用前景

鲸类位于海洋生态系统食物链的顶端,在国际海洋环境保护研究中备受关注。鲸类的生活环境使得科研人员难以接近它们,为了在保证动物生命安全的前提下进行采样研究,科研人员发明了鲸类远距离活体采样技术。鲸类远距离活体采样工具出现于1973年,由捕鲸鱼叉改制而来,其后40余年,鲸类活体采样工具先后经历了捕鲸鱼叉、十字弓、复合弓、气枪、手持杆等多种不同动力的采样系统交替出现的发展历程。活体采样技术对动物的影响是科研人员关注的核心问题,为此,科研人员开展了大量研究对活体采样技术的风险性进行评价,并最终认可了这一技术的无损伤性。现今,鲸类远距离活体采样技术已成为国际鲸类研究的重要手段。我国是鲸类资源相对丰富的国家,但该技术在我国鲸类研究中的应用仍处于起步阶段,仅在香港海域的中华白海豚（Sousa chinensis）研究中进行过尝试,鲸 类远距离活体采样技术在我国有着广泛的应用前景和发展空间。本文详细介绍了鲸类远距离活体采样技术的发展历程和科研应用,并从遗传学、毒理学、细胞生物学和内分泌学方面对该技术在我国鲸类研究中的应用前景做了展望。     

2008年中国植物科学若干领域重要研究进展

在国家各类重大研究计划的持续支持和推动下,2008年中国植物科学研究继续快速发展,中国科学家在植物科学各领域中取得了大量的原创性研究成果,尤其是在水稻株型功能基因组、水稻开花控制和种子发育、生殖隔离机制以及转基因生态安全研究等方面取得了一系列重大进展,受到了国内外的广泛关注。该文对2008年中国本土科学家在植物生命科学若干领域取得的重要研究进展进行概括性评述,旨在全面追踪当前中国植物科学领域发展的最新前沿和热点事件,并展现我国科学家所取得的杰出成就。     

Modifying mosquitoes to suppress disease transmission: Is the long wait over?

For more than 50 years it has been a dream of medical entomologists and public health workers to control diseases like malaria and dengue fever by modifying, through genetics and other methods, the arthropods that transmit them to humans. A brief synopsis of the history of these efforts as applied to mosquitoes is presented; none proved to be effective in reducing disease prevalence. Only in the last few years have novel approaches been developed or proposed that indicate the long wait may be over. Three recent developments are particularly promising: CRISPR-Cas9 driven genetic modification, shifting naturally occurring allele frequencies, and microbe-based modifications. The last is the furthest along in implementation. Dengue fever incidence has been reduced between 40% and 96% in 4 different regions of the world where Wolbachia-infected Aedes aegypti have been established in the field. It is not yet clear how sustainable such control programs will prove to be, but there is good reason for optimism. In light of this, the time is ripe for reinvigorated research on vectors, especially genetics. Vector-borne diseases primarily affect under-developed countries and thus have not received the attention they deserve from wealthier countries with well-developed and funded biomedical research establishments.     

Molecular evolution study in China: progress and future promise

China has a large land area with highly diverse topography, climate and vegetation, and animal resources and is ranked eighth in the world and first in the Northern Hemisphere on richness of biodiversity. Even though little work on molecular evolution had been reported a decade ago, studies on both the evolution of macromolecules and the molecular phylogeny have become active in China in recent years. This review highlights some of the interesting and important developments in molecular evolution study in China. Chinese scientists have made significant contribution on the methods inferring phylogeny and biogeography of animals and plants in East Asia using molecular data. Studies on population and conservation genetics of animals and plants, such as Golden monkey and Chinese sturgeon, provided useful information for conserving the endangered species. East and South Asia has been demonstrated to be one of the centres of domestication. Origin and evolution of genes and gene families have been explored, which shed new insight on the genetic mechanism of adaptation. In the genomic era, Chinese researchers also made a transition from single-gene to a genomic investigation approach. Considering the fact that amazing progress has been made in the past few years, and more and more talented young scientists are entering field, the future of molecular evolution study in China holds much promise.     

中国大鲵研究概况

中国大鲵(Andrias davidianus)为我国特有物种,也是国家二类保护水生野生动物.野生大鲵多栖息在山区溪流里,喜穴居,怕光怕声,以鱼蟹等水生动物为食,从数量上看,以陕西秦岭山区居多.大鲵经济价值极高,在美食、保健、医药、观赏等方面均具有广泛开发利用的前景,因而颇受社会各界关注.近年来对大鲵的科学研究涉及多个...     

血液中氧化三甲胺与相关疾病及检测方法

随着代谢组学技术的不断发展及科学研究的不断深入,生物标志物用于预判或诊断机体疾病的价值被更多的科学家所重视.最近几年,大量文献报道了氧化三甲胺与机体疾病之间的相关性.本文通过对近几年血氧化三甲胺与各种疾病之间的关系研究进展及测量方法(如液质联用法、酶联免疫法、磁共振法等)的系统综述,以期为今后的研究提供便捷的参考途径.     

我国濒危哺乳动物保护生物学研究进展

本文简要论述了2010-1015年间,我国濒危哺乳动物（主要是食肉类、灵长类、有蹄类和鲸类) 保护生物学的研究进展,涉及进化保护生物学、保护生态学、保护行为学、保护生理学、保护遗传学、保护基因组学与宏基因组学和保护政策建议与实践等诸多领域。以大熊猫和金丝猴为代表的濒危动物保护生物学研究成绩显著。各项研究结果表明,大熊猫并非是一个已走到“进化尽头”的物种,仍具进化潜力。虽然大熊猫仍然面临栖息地破碎等环境问题,总的来看其种群数量在逐渐增长,栖息地面积在逐渐扩大,已走出困境并脱离“濒危”的状态,可降为“易危”。我国大熊猫的保护为世界生物多样性保护树立了成功的范例。根据国内研究进展和国际发展动态,该文还对未来保护生物学的研究提出了一些建议,包括加强长期定点监测与系统性的研究工作,加强新理论、新方法和新技术的研发及应用,加强宏微观研究手段的结合从机制上揭示科学问题,加强动物对食物、高原极端环境和水生生态环境的适应性进化分子机制的揭示,加强理论与实践相结合积极推动研究成果的应用,为濒危动物的有效保护保驾护航。