What makes us human? A biased view from the perspective of comparative embryology and mouse genetics

For a neurobiologist, the core of human nature is the human cerebral cortex, especially the prefrontal areas, and the question "what makes us human?" translates into studies of the development and evolution of the human cerebral cortex, a clear oversimplification. In this comment, after pointing out this oversimplification, I would like to show that it is impossible to understand our cerebral cortex if we focus too narrowly on it. Like other organs, our cortex evolved from that in stem amniotes, and it still bears marks of that ancestry. More comparative studies of brain development are clearly needed if we want to understand our brain in its historical context. Similarly, comparative genomics is a superb tool to help us understand evolution, but again, studies should not be limited to mammals or to comparisons between human and chimpanzee, and more resources should be invested in investigation of many vertebrate phyla. Finally, the most widely used rodent models for studies of cortical development are of obvious interest but they cannot be considered models of a "stem cortex" from which the human type evolved. It remains of paramount importance to study cortical development directly in other species, particularly in primate models, and, whenever ethically justifiable, in human.     

Introduction to a special series: What Makes Man Human

One of the most pressing and timely scientific questions concerns the evolution of man. In 1970, Karl Pribram delivered the James Arthur Lecture at the American Museum of Natural History in New York City. His lecture, "What Makes Man Human," was one of the most eloquent and brilliant syntheses of this problem ever made. The Journal is proud to publish this Lecture for the first time in an open access format that will make its insights available widely to a new generation of students and investigators. Accompanying the lecture is a new commentary written by Prof. Pribram, and four additional commentaries from prominent investigators who were invited to consider the question from their own perspectives. Together, these articles provide a scholarly, yet accessible, snapshot of different approaches to the study of human evolution in 2006.     

Who's afraid of <Emphasis Type="Italic">Homo sapiens</Emphasis>?

Understanding how humans differ from other animals, as well as how we are like them, requires comparative investigations. For the purpose of documenting the distinctive features of humans, the most informative research involves comparing humans to our closest relatives–the chimpanzees and other great apes. Psychology and anthropology have maintained a tradition of empirical comparative research on human specializations of cognition. The neurosciences, by contrast, have been dominated by the model-animal research paradigm, which presupposes the commonality of "basic" features of brain organization across species and discourages serious treatment of species differences. As a result, the neurosciences have made little progress in understanding human brain specializations. Recent developments in neuroimaging, genomics, and other non-invasive techniques make it possible to directly compare humans and nonhuman species at levels of organization that were previously inaccessible, offering the hope of gaining a better understanding of the species-specific features of the human brain. This hope will be dashed, however, if chimpanzees and other great ape species become unavailable for even non-invasive research.     

生防菌株Bacillus velezensis Z全基因组测序分析

生防菌株Bacillus velezensis Z对胡椒瘟病等多种植物病害具有良好的生防效果;全基因组测序能够为其分子机理研究和开发应用提供信息基础。本研究开展该菌株全基因组测序,并进行比较基因组学和抑菌次生代谢产物合成基因簇预测研究。结果表明：B. velezensis Z菌株的基因组中含有1条4 054 780 bp大小的环形染色体DNA和1个17 122 bp大小的环形质粒,总基因组的GC含量为46.24%,共编码基因4173个;包含27个rRNA,86个tRNA基因,34个sRNA;含有串联重复序列179个,其中13个微卫星DNA,138个小卫星DNA;通过比较基因组学分析,结果发现该菌株与贝莱斯芽孢杆菌模式菌株FZB42同源性极高,与枯草芽孢杆菌模式菌株168之间具有一定的遗传距离;同时发现B. velezensis Z基因组中共编码次生代谢产物合成基因簇13个,其中8个与表面活性素（surfactin）、泛革素（fengycin）、溶杆菌素（bacilysin）、macrolactin H、bacillaene、difficidin、plantazolicin、amylocyclicin等已知基因簇完全相似或高度相似,其他5个基因簇皆功能未知。总之,本研究揭示了B. velezensis Z的全基因组遗传信息,明确其与贝莱斯芽孢杆菌和枯草芽孢杆菌的比较基因组学关系,预测了抑菌产物合成编码基因簇,为该生防菌株及其抑菌产物的机理研究和开发应用奠定基础。     

甘蔗可溶性酸性转化酶基因的克隆及序列分析

可溶性酸性转化酶在植物糖代谢中起着关键作用,为了研究甘蔗中可溶性酸性转化酶,利用电子克隆与RT-PCR方法从甘蔗中分离出1个甘蔗可溶性酸性转化酶基因DNA及cDNA序列,DNA序列长度为3 266 bp,含有3个外显子和2个内含子,cDNA序列长度为1 890 bp,包含1 656 bp的完整开放阅读框,编码551个氨基酸。BLASTX分析显示,该蛋白与其它植物已知的酸性可溶性蔗糖转化酶具有很高的同源性,推测该蛋白为可溶性酸性转化酶。预测甘蔗SAI家族可能只有1个基因,这可能与其大量积累蔗糖的能力有重要关系。     

小麦铁结合蛋白基因的同源克隆

为了寻找一种简捷的克隆同源基因的途径,以小麦铁蛋白基因的同源克隆为例,利用玉米的铁结合蛋白基因序列比对小麦的EST库,在网上进行电子延伸后以起始密码子为起点,终止密码子为终点设计特异性强的引物进行基因克隆,经过引物O1和Fcds扩增片段的测序及Blast比对,证实本试验已成功地从小麦的基因组和cDNA中克隆出铁结合蛋白基因。最后对基于同源序列克隆基因的策略及引物设计技巧进行了探讨。     

玉米基因组学研究进展

简要介绍了玉米基因组学发展背景,概述了玉米基因组学研究进展。在结构基因组学方面,新发展的DNA编码序列富集与过滤技术大大推动了玉米基因组学测序工作的进展,目前已获得基因组中80%的编码序列。功能基因组学在EST计划、Mu-tagging技术、芯片技术和TILLIING技术的推动下也取得了长足的进展。与水稻和拟南芥等的比较基因组学,有助于解读基因组序列,推测未知基因的功能,并促进了基因作图。生物信息学则积累了海量的数据库并呈指数增加,新软件开发、数据的解读和图谱的整合是其重要的研究方向。讨论了基因组学发展对玉米育种的影响。     

Integration of genomics approach with traditional breeding towards improving abiotic stress adaptation: drought and aluminum toxicity as case studies

Traditional breeding efforts are expected to be greatly enhanced through collaborative approaches incorporating functional, comparative and structural genomics. Potential benefits of combining genomic tools with traditional breeding have been a source of widespread interest and resulted in numerous efforts to achieve the desired synergy among disciplines. The International Center for Tropical Agriculture (CIAT) is applying functional genomics by focusing on characterizing genetic diversity for crop improvement in common bean (Phaseolus vulgaris L.), cassava (Manihot esculenta Crantz), tropical grasses, and upland rice (Oriza sativa L.). This article reviews how CIAT combines genomic approaches, plant breeding, and physiology to understand and exploit underlying genetic mechanisms of abiotic stress adaptation for crop improvement. The overall CIAT strategy combines both bottom-up (gene to phenotype) and top-down (phenotype to gene) approaches by using gene pools as sources for breeding tools. The strategy offers broad benefits by combining not only in-house crop knowledge, but publicly available knowledge from well-studied model plants such as arabidopsis [Arabidopsis thaliana (L.) Heynh.]. Successfully applying functional genomics in trait gene discovery requires diverse genetic resources, crop phenotyping, genomics tools integrated with bioinformatics and proof of gene function in planta (proof of concept). In applying genomic approaches to crop improvement, two major gaps remain. The first gap lies in understanding the desired phenotypic trait of crops in the field and enhancing that knowledge through genomics. The second gap concerns mechanisms for applying genomic information to obtain improved crop phenotypes. A further challenge is to effectively combine different genomic approaches, integrating information to maximize crop improvement efforts. Research at CIAT on drought tolerance in common bean and aluminum resistance in tropical forage grasses (Brachiaria spp.) is used to illustrate the opportunities and constraints in breeding for adaptation to abiotic stresses.     

木署中miR393的RT-PCR鉴定及前体的克隆与结构分析

研究木薯中表达的miRNA对深入探明木薯生长发育的调控机制具有十分重要的意义.通过RT-PCR证实木薯中有miR393的表达.采用比较基因组学的方法,从木薯基因组DNA中克隆到miR393的前体,对该miRNA前体的二级结构及与其它物种序列的同源性进行分析,结果表明,miR393前体序列在不同物种间保守性不高,但成熟的...     

胡椒瘟病生防菌 Bacillus subtilis VD18R19 全基因组测序及 比较基因组学分析

Bacillus subtilis VD18R19 具有促进胡椒生长和防治胡椒瘟病的效果,全基因组测序是其分子机理研究和开发 利用的重要基础。本研究采用第二代 Illumina 平台与第三代 PacBio 平台相结合的测序技术,对生防菌 VD18R19 进行 全基因组测序,并进行比较基因组学分析。结果发现,VD18R19 全基因组大小为 4 123 380 bp,GC 含量为 43.80%, 编码基因 4 245 个;含有 tRNA 85 个、rRNA 30 个、sRNA 33 个;含有串联重复序列 60 个,其中小卫星 DNA 43 个、 微卫星 DNA 1 个;共线性分析、core-pan 基因分析及基因家族分析结果均显示 VD18R19 与模式菌株 B. subtilis 168 具 有高度的同源性;antiSMASH 软件预测及同源序列比对结果显示,VD18R19 菌株中含有 6 个抑菌次生代谢产物合成基 因簇,编码 surfactin、plipastatin、bacillibactin、bacilysin、bacillaene、subtilosin A 等抑菌物质,其合成途径涵盖了核 糖体途径、非核糖体途径和聚酮合酶途径。本研究为深入研究生防菌 VD18R19 的分子机理奠定生物信息学基础,有利 于生防菌株及其抑菌次生代谢产物的开发和利用。     

基因组学进展及其在热带作物领域中的应用

基因组学的发展,不仅能获得物种个体水平染色体的精准DNA序列,解析生命科学的基本问题,而且其超高通量技术使得在群体水平诠释物种遗传多样性成为可能,从而改变了现代生命科学的进程和研究方式。本文概述了基因组技术的最新进展,以及与相关组学技术结合,在物种群体遗传结构多样性、功能基因发掘、生物进化以及精准育种领域的广泛应用;同时简述了热带作物的生物学特性、基因组研究进展及其存在的问题,并对未来基因组学发展与新的应用领域进行了简评。     

Bioinformatics and Systems Biology,rapidly evolving tools for interpreting plant response to global change

Global change is impacting the evolutionary trajectory of our planet's biota. In spite of the widely appreciated magnitude of this process, we still have a limited ability to estimate biological effects of increased atmospheric CO₂ or of climate change. Many new molecular techniques, including microarrays and metabolic profiling, are emerging that allow the direct observation of the vast repertoire of an organism's cellular processes in laboratory and ecological settings. The challenge now is to integrate these large data sets containing spatial and temporal components into models that enable us to explain how organisms respond to increased atmospheric CO₂ and eventually to develop models that accurately predict their evolutionary trajectory. In response, the field of bioinformatics is expanding to better facilitate information transfer between laboratory experiments and mathematical modeling in support of the emerging field of Systems Biology.     

The Future of Rice Genomics: Sequencing the Collective Oryza Genome

The main objectives of the “Oryza Map Alignment Project” (OMAP) are to characterize the rice genome from a comparative standpoint by establishing a genus-wide and genome-scale comparative framework from representative species. Here, we report our progress in the analyses of these datasets and emerging “comparative phylogenomics” insights into Oryza evolution at two different resolutions—chromosomal and sequence levels. We demonstrate the abundance and impact of structural variations (SV) on genome diversity using African Oryza as a model. The molecular basis of SV was inferred using three genus-wide vertical sequence datasets. Combined, these data demonstrate that a single reference genome sequence for the genus Oryza is insufficient to comprehensively capture the genomic and allelic diversity present within the genus. Towards this end, we present a strategy to generate high-quality and cost-effective de novo reference sequences of collective Oryza. The application and broader scientific impact of the OMAP resources under an international cooperative effort (I-OMAP) are discussed.     

植物功能基因组学研究进展

对植物功能基因组学的研究方法进行了论述,包括微阵列或DNA芯片、EST技术、SAGE技术、蛋白质组学技术、反向遗传技术及生物信息学技术等,对植物功能基因组学研究中可能遇到的问题进行了分析。     

玉米大斑病抗性基因SNP基因芯片分析

利用SNP基因芯片(56 110个SNP)对3对玉米大斑病Ht3近等基因系进行检测分析。借助生物信息学和比较基因组学方法,确定了29个相关数量抗性候选基因,均分布于2、3、7、9号染色体;14个候选基因与各类酶活性、能源合成、金属离子、DNA合成修饰、抗逆等功能相关。其中,GRMZM2G058197位于7号染色体bin7.04区域166087520-166091392,与玉米大斑病质量抗性基因Ht3基因位置相吻合。     

Dynamic Oryza Genomes: Repetitive DNA Sequences as Genome Modeling Agents

Repetitive sequences, primarily transposable elements form an indispensable part of eukaryotic genomes. However, little is known about how these sequences originate, evolve and function in context of a genome. In an attempt to address this question, we performed a comparative analysis of repetitive DNA sequences in the genus Oryza, representing ~15 million years of evolution. Both Class I and Class II transposable elements, through their expansion, loss and movement in the genome, were found to influence genome size variation in this genus. We identified 38 LTRretrotransposon families that are present in 1,500 or more copies throughout Oryza, and many are preferentially amplified in specific lineages. The data presented here, besides furthering our understanding of genome organization in the genus Oryza, will aid in the assembly, annotation and analysis of genomic data, as part of the future genome sequencing projects of O. sativa wild relatives.     

Next Generation Sequencing of Actinobacteria for the Discovery of Novel Natural Products

Like many fields of the biosciences, actinomycete natural products research has been revolutionised by next-generation DNA sequencing (NGS). Hundreds of new genome sequences from actinobacteria are made public every year, many of them as a result of projects aimed at identifying new natural products and their biosynthetic pathways through genome mining. Advances in these technologies in the last five years have meant not only a reduction in the cost of whole genome sequencing, but also a substantial increase in the quality of the data, having moved from obtaining a draft genome sequence comprised of several hundred short contigs, sometimes of doubtful reliability, to the possibility of obtaining an almost complete and accurate chromosome sequence in a single contig, allowing a detailed study of gene clusters and the design of strategies for refactoring and full gene cluster synthesis. The impact that these technologies are having in the discovery and study of natural products from actinobacteria, including those from the marine environment, is only starting to be realised. In this review we provide a historical perspective of the field, analyse the strengths and limitations of the most relevant technologies, and share the insights acquired during our genome mining projects.     

Comparative Analysis of Rice Genome Sequence to Understand the Molecular Basis of Genome Evolution

Accurate sequencing of the rice genome has ignited a passion for elucidating mechanism for sequence diversity among rice varieties and species, both in protein-coding regions and in genomic regions that are important for chromosome functions. Here, we have shown examples of sequence diversity in genic and non-genic regions. Sequence analysis of chromosome ends has revealed that there is diversity in both sequences and distribution in the region of telomere repeat arrays, from chromosome to chromosome, within a plant. Detailed study has allowed us to speculate the mechanism of generation of these arrays. Sequence analysis using various cultivated and wild rice of the sd1 gene, which contributed to the “Green Revolution” in rice varieties and their wild progenitors, has also demonstrated sequence diversity, which is correlated with taxonomic classification. These results indicate that detailed analysis of sequence diversity and comparison might give us a clue in elucidating mechanism of the evolution of rice genome.     

Karl Pribram,the James Arthur Lectures,and What Makes Us Human

Background

The annual James Arthur lecture series on the Evolution of the Human Brain was inaugurated at the American Museum of Natural History in 1932, through a bequest from a successful manufacturer with a particular interest in mechanisms. Karl Pribram's thirty-ninth lecture of the series, delivered in 1970, was a seminal event that heralded much of the research agenda, since pursued by representatives of diverse disciplines, that touches on the evolution of human uniqueness.

Discussion

In his James Arthur lecture Pribram raised questions about the coding of information in the brain and about the complex association between language, symbol, and the unique human cognitive system. These questions are as pertinent today as in 1970. The emergence of modern human symbolic cognition is often viewed as a gradual, incremental process, governed by inexorable natural selection and propelled by the apparent advantages of increasing intelligence. However, there are numerous theoretical considerations that render such a scenario implausible, and an examination of the pattern of acquisition of behavioral and anatomical novelties in human evolution indicates that, throughout, major change was both sporadic and rare. What is more, modern bony anatomy and brain size were apparently both achieved well before we have any evidence for symbolic behavior patterns. This suggests that the biological substrate underlying the symbolic thought that is so distinctive of Homo sapiens today was exaptively achieved, long before its potential was actually put to use. In which case we need to look for the agent, perforce a cultural one, that stimulated the adoption of symbolic thought patterns. That stimulus may well have been the spontaneous invention of articulate language.