Introduction The goal of this book is to introduce XML to a bioinformatics audience. It does so by introducing the fundamentals of XML, Document Type De?nitions (DTDs), XML Namespaces, XML Schema, and XML parsing, and illustrating these concepts with speci?c bioinformatics case studies. The book does not assume any previous knowledge of XML and is geared toward those who want a solid introduction to fundamental XML concepts. The book is divided into nine chapters: Chapter 1: Introduction to XML for Bioinformatics. This chapter provides an introduction to XML and describes the use of XML in biological data exchange. A bird's-eye view of our ?rst case study, the Distributed Annotation System (DAS), is provided and we examine a sample DAS XML document. The chapter concludes with a discussion of the pros and cons of using XML in bioinformatic applications. Chapter 2: Fundamentals of XML and BSML. This chapter introduces the fundamental concepts of XML and the Bioinformatic Sequence Markup Language (BSML). We explore the origins of XML, de?ne basic rules for XML document structure, and introduce XML Na- spaces. We also explore several sample BSML documents and visualize these documents in the TM Rescentris Genomic Workspace Viewer.

The recent progress achieved in aquatic genomics research has important implications in science and aquaculture. Researchers' success in genome sequencing of the fugu has provided a foundation not only for comparative fish genomics but also for genetic studies of other vertebrates. This volume, with contributions by leading scientists from around the world, provides the latest information on genomic studies of a variety of aquatic organisms including fish, crustaceans, and shellfish, with descriptions of such methodologies as genome analysis, gene mapping, DNA markers, and EST analysis. Other topics include regulation of gene expression, stress and immune responses, sex differentiation, hormonal control, and transgenic fish. This book is a valuable resource for all scientists whose work involves aquatic organisms, especially for those in the fields of aquatic genomics, fish immunology, and aquatic biotechnology.

Genomics and the Global Bioeconomy, a new volume in the Translational and Applied Genomics series, empowers researchers, administrators, and sustainability leaders to apply genomics and novel omics technologies to advance the global bioeconomy and sustainability. Here, more than 15 international experts illustrate-with concrete examples across various industries and areas of global need-how genomics is addressing some of the most pressing global challenges of our time. Chapters offer an in-depth, case-based treatment of various topics, from genomics technologies supporting sustainability development goals to novel synthetic biology advancements improving biofuel production, conservation, sustainable food production, bioremediation, and genomic monitoring. Editors Catalina Lopez-Correa and Adrian Suarez-Gonzalez skillfully bring clarity to this diverse and increasingly impactful research, uniting various perspectives to inspire fresh innovation in driving the global bioeconomy.

The primary purpose of this volume is to demonstrate the range of applications of the Pyrosequencing technology in research and diagnostics and to provide detailed protocols. Beginning with an up-to-date overview of the biochemistry, the volume continues with quantitative analysis of genetic variation, ratio of expressed alleles at the RNA level, analysis of DNA methylation, global DNA methylation assays, specialized applications for DNA methylation analysis including loss of imprinting, single blastocyst analysis, allele-specific DNA methylation patterns, DNA methylation patterns associated with specific histone modifications. The volume further details tools and protocols for the detection of viruses and bacteria, and genetic and epigenetic analyses for forensics using Pyrosequencing. As a volume in the highly successful Methods in Molecular Biology series, chapters contain introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols and tips on troubleshooting and avoiding known pitfalls. Comprehensive and adaptable, Pyrosequencing: Methods and Protocols, Second Edition will greatly aid doctorial students, postdoctoral investigators and research scientists studying different aspects of genetics and cellular and molecular biology.

The story of the most significant biological breakthrough of the century - the discovery of the structure of DNA. 'It is a strange model and embodies several unusual features. However, since DNA is an unusual substance, we are not hesitant in being bold' By elucidating the structure of DNA, the molecule underlying all life, Francis Crick and James Watson revolutionised biochemistry. At the time, Watson was only 24. His uncompromisingly honest account of those heady days lifts the lid on the real world of great scientists, with their very human faults and foibles, their petty rivalries and driving ambition. Above all, he captures the extraordinary excitement of their desperate efforts to beat their rivals at King's College to the solution to one of the great enigmas of the life sciences.

Genome Exploitation: Data Mining the Genome is developed from the 23rd Stadler Genetic Symposium. This volume discusses and illustrates how scientists are going to characterize and make use of the massive amount of information being accumulated about the plant and animal genomes. Genome Exploitation: Data Mining the Genome is a state-of-the-art picture on mining the Genome databases. This is one of the few times that researchers in both plants and animals will be working together to create a seminal data resource.

This comprehensive yet balanced work emphasizes the principles and rationale underlying recombinant DNA methodology while furnishing a general understanding of the experimental protocols-suggesting flexible approaches to resolving particular molecular necessities that are easily adaptable to readers' specific applications. Features summary tables presenting at-a-glance information on practices of recombinant DNA methodologies! Recombinant DNA Principles and Methodologies discusses basic and advanced topics requisite to the employment of recombinant DNA technology, such as -plasmid biology -nucleic acid biochemistry -restriction enzymes -cloning strategies -gel electrophoresis -southern and northern blotting -preparation of probes -phage lambda biology -cosmids and genome analysis -cloned gene expression -polymerase chain reaction -conventional and automated DNA sequencing -site-directed mutagenesis -and more! Elucidating the material with over 2250 edifying references, equations, drawings, and photographs, this state-of-the-art resource is a valuable hands-on guide for molecular and cell biologists, biochemists, bioprocess technologists, applied and industrial microbiologists, virologists, geneticists, chemical engineers, and upper-level undergraduate and graduate students in these disciplines.

Environmental DNA (eDNA) refers to DNA that can be extracted from environmental samples (such as soil, water, feces, or air) without the prior isolation of any target organism. The analysis of environmental DNA has the potential of providing high-throughput information on taxa and functional genes in a given environment, and is easily amenable to the study of both aquatic and terrestrial ecosystems. It can provide an understanding of past or present biological communities as well as their trophic relationships, and can thus offer useful insights into ecosystem functioning. There is now a rapidly-growing interest amongst biologists in applying analysis of environmental DNA to their own research. However, good practices and protocols dealing with environmental DNA are currently widely dispersed across numerous papers, with many of them presenting only preliminary results and using a diversity of methods. In this context, the principal objective of this practical handbook is to provide biologists (both students and researchers) with the scientific background necessary to assist with the understanding and implementation of best practices and analyses based on environmental DNA.

Recent progress in high-throughput technologies and genome wide transcriptome studies have lead to a significant scientific milestone of discovering non-coding RNAs (ncRNAs) which spans through a major portion of the genome. These RNAs most often act as riboregulators, and actively participate in the regulation of important cellular functions at the transcriptional and/or post-transcriptional levels rather than simply being an intermediated messenger between DNA and proteins. As the appreciation for the importance of ncRNAs continues to emerge, it is also increasingly clear that these play critical roles in gene regulatory processes during development and differentiation. Further, regulatory RNAs are useful biomarkers for diagnosis of diseases. Hence these RNA regulators are essential to the development of therapeutics. This book on "Regulatory RNAs" offers a comprehensive view on our current understanding of these regulatory RNAs viz. siRNA, miRNA, piRNA, snoRNA, long non-coding RNA, small RNA etc. It addresses both the biogenesis and mechanism of action of regulatory RNAs with a primary focus on their annotation, experimental methodologies (microarray, next-gen sequencing etc.) for their discovery, computational tools for their prediction, and above all, applications of these revolutionary regulatory molecules in understanding biological systems and diseases, including therapeutics. This comprehensive volume is intended for readers with research or teaching interests in ncRNA biology and will provide a major information resource on current research in the fast-moving fields of RNA and gene expression regulation. Cutting-edge and concise, "Regulatory RNAs: Basics, Methods and Applications" promises to support vital research in the field of regulatory RNAs, ever-continuing to grow rapidly and gain increasing importance in basic and translational biology.

Understanding of the molecular basis of DNA damage and its repair has increased dramatically in recent years and there is now a substantial knowledge concerning the products that arise from free-radical attack on DNA. Free-radical DNA damage may lead to mutations, cancer and cell death. There are various free radical sources, notably ionizing radiation or oxidative stress. In the radiotherapy of cancer and in the case of some anticancer drugs, use is made of cell killing by excessive DNA damage.nbsp; The mechanisms that lead to these products have been studied on the model level and with small double-stranded DNA fragments and are discussed in some detail. The basics of the underlying free-radical chemistry are dealt with in separate chapters. Understanding of the molecular basis of DNA damage and its repair has increased dramatically in recent years, and substantial knowledge now exists concerning the products arising from free-radical attack on DNA. Free-radical DNA damage may lead to mutations, cancer, and cell death. Free radicals have various sources, notably ionizing radiation and oxidative stress. In radiotherapy for cancer and with some anticancer drugs, use is made of cell death by excessive DNA damage. The mechanisms leading to products of free-radical attack which have been studied in models and with small double-stranded DNA fragments are discussed in detail, and the basics of the underlying free-radical chemistry are dealt with in separate chapters.

Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more.

Leading scientists in gene expression methodology and bioinformatics data analysis describe readily reproducible methods for measuring RNA levels in cells and tissues. The techniques presented include new methods for applying the Affymetrix GeneChip (R), SAR-SAGE, StaRT-PCR, SSH, the Invader Assay (R), and ADGEM. The authors also provide critical bioinformatics insight and resources for data analysis and management. By distilling the basic underlying principles of many methods to a few straightforward concepts, investigators can easily choose the method most appropriate to their application.

Mitochondrial Eve and Y-Chromosomal Adam discusses theoretical ideas, interpretations, and paleontological evidence to narrate the origin and evolutionary story of Sapiens through the transitional stages of archaic human species involved in the evolutionary pilgrimage, from the great apes and to modern humans. Author Subir Ranjan Kundu investigates the DNA footprints of primates - great apes, archaic humans, and anatomically modern human beings - to stretch out the missing links between evolutionary milestones to define and redefine the progress of life. The origin and evolution of Humans have always remained a source of debate between the creationists and evolutionists, in terms of recognizing the results of such researches on biological evolution and its credible interpretation of the evolutionists who upheld the origin and evolution of "Sapiens" resulting from great apes in course of the gradual evolutionary progress of life. Kundu analyzes interpretations of molecular and evolutionary geneticists over the last four decades and presents detailed illustrations on the matrilineal inheritance of mitochondrial DNA (represented by mitochondrial Eve as primordial mother), patrilineal inheritance of Y-chromosomal DNA (represented by Y-chromosomal Adam as primordial father). He also presents elaborate structural aspects of the human genome and molecular aspects of the DNA footprint of Sapiens. This book is addressed to heterogeneous readers, graduate, and post-graduate students, research scientists and the general public interested in the origins and biological evolution of humans in view of molecular phylogenetics.

Featuring current resources used to discover new legume family genes and to understand genes and their interactions, Legume Genomics: Methods and Protocols provides techniques from expert researchers to study these plants that are so vitally important for food, feed, human nutrition, bioenergy, and industrial purposes. This detailed volume covers genome characterization and analysis, transcriptome analysis and miRNA identification/analysis, forward and reverse genetics, molecular markers, as well as transformation strategies used to investigate gene function and many other topics. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and useful, Legume Genomics: Methods and Protocols aims to serve plant molecular biologists, molecular breeders, plant physiologists and biochemists, developmental biologists, and those interested in plant-microbe interactions.

Microarray technology provides a highly sensitive and precise te- nique for obtaining information from biological samples, with the added advantage that it can handle a large number of samples simultaneously that may be analyzed rapidly. Researchers are applying microarray technology to understand gene expression, mutation analysis, and the sequencing of genes. Although this technology has been experimental, and thus has been through feasibility studies, it has just recently entered into widespread use for advanced research. The purpose of DNA Arrays: Methods and Protocols is to provide instruction in designing and constructing DNA arrays, as well as hybridizing them with biological samples for analysis. An additional purpose is to p- vide the reader with a broad description of DNA-based array technology and its potential applications. This volume also covers the history of DNA arrays-from their conception to their ready off-the-shelf availability-for readers who are new to array technology as well as those who are well versed in this field. Stepwise, detailed experimental procedures are described for constructing DNA arrays, including the choice of solid support, attachment methods, and the general conditions for hybridization. With microarray technology, ordered arrays of oligonucleotides or other DNA sequences are attached or printed to the solid support using au- mated methods for array synthesis. Probe sequences are selected in such a way that they have the appropriate sequence length, site of mutation, and T .

This book spans diverse aspects of modified nucleic acids, from chemical synthesis and spectroscopy to in vivo applications, and highlights studies on chemical modifications of the backbone and nucleobases. Topics discussed include fluorescent pyrimidine and purine analogs, enzymatic approaches to the preparation of modified nucleic acids, emission and electron paramagnetic resonance (EPR) spectroscopy for studying nucleic acid structure and dynamics, non-covalent binding of low- and high-MW ligands to nucleic acids and the design of unnatural base pairs. This unique book addresses new developments and is designed for graduate level and professional research purposes.

Genomic imprinting, the process by which the non-equivalence of the paternal and maternal genomes is established, has been fascinating us for over three decades and has provided many emerging scientists with the chance to hit their stride in a frontier posing many unexpected questions and even more surprising answers. In Genomic Imprinting: Methods and Protocols, experts in the field provide a survey of the technologies that are being applied to advance the study of imprinting. This detailed volume features new technologies that are accelerating the pace of discovery of imprinted genes and characterization of their epigenetic profile, bioinformatic procedures for prediction and comparative analyses of imprinted genes, as well as methods in embryology and basic molecular biology that have been employed for many years, some appearing in new versions for small cell numbers. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and easy to use, Genomic Imprinting: Methods and Protocols will aid scientists in unveiling both much awaited answers and all-new questions to keep this vital field busy for many exciting years to come.

Disorders of Protein Synthesis, Volume 132 in the Advances in Protein Chemistry and Structural Biology series, highlights new advances in the field, with this new volume presenting interesting chapters written by an international board of authors.

2 On the Early History of 5-mC In the fall of 1966, Norton D. Zinder of Rockefeller University in New York City presented the Harvey Lecture on "Phage RNA as Genetic Material" (Zinder 1966). Frankly,I do not remember manydetailsofhis talk. However, one ofhis concluding remarks, in which he thanked his teacher Rollin Hotchkiss, stuck in my mind andbecame an important leitmotiffor much of my own scienti?c career. Norton's relevant passages went somethinglikethis (approximate quotation): When we hope to have made a scienti?c discovery, we better spend much of our time immediately after this fortunate event in trying to counter our own beliefsand interpretations. Onlyafter a lot of painstaking scrutiny involving many control experiments when our discoveryhas stood the test of careful consideration, can one hope that our colleagues will beabletocon?rm the new ?ndings. Of course, it is a major task of the scienti?c community to respectfully meet supposedly novel announ- ments withdisbelief and skepticism and in turn commence the process of disproving these concepts. Consistent con?rmations, with plenty of modi?cations to be sure, will providethe encouragement necessary to continue and to improve the initial observations and conclusions. Apparently, the scienti?c tradition re?ected in this overall cautious attitude had emanatedfrom the laboratory of Oswald Avery that Rollin Hotchkiss had been trained in. This certainly most important of scienti?ccredos seems tocontradict intuitively held notions and might bethought to run counter to general practice.

Handbook of Epigenetics: The New Molecular and Medical Genetics, Third Edition provides a comprehensive analysis of epigenetics, from basic biology to clinical application. This new edition has been fully revised to cover the latest and evolving topics in epigenetics, with chapters updated and new chapters added on topics such as single-cell epigenetics, DNA methylation clocks in age-related diseases, transposable elements and epigenetics, X chromosome inactivation, and the epigenetics of drug addiction, among other topics. Throughout this edition, greater emphasis falls on epigenomic analyses and incorporating multi-omics approaches rather than gene-specific analyses. In addition, this edition has also been enhanced with step-by-step instructions in research methods, as well as easy-to-digest disease case studies and clinical trials that provide context and applied examples of recent advances in disease understanding and epigenetic therapeutics. These features empower researchers to reproduce the approaches and studies discussed and aid clinical translation. Live links across chapters tie in relevant external datasets and resources.

Biolistic transfection represents a direct physical gene transfer approach in which nucleic acids are precipitated on biologically inert high-density microparticles (usually gold or tungsten) and delivered directly through cell walls and/or membranes into the nucleus of target cells by high-velocity acceleration using a ballistic device such as the gene gun. Biolistic DNA Delivery: Methods and Protocols provides a comprehensive collection of detailed protocols intended to provide the definitive practical guide for the novice as well as for the advanced gene transfer expert on how to introduce nucleic acids into eukaryotic cells using the biolistic technique. Split into six convenient sections, this detailed volume covers biolistic gene transfer into plants, nematodes, and mammalian cells, both in vitro and in vivo, as well as the use of gene gun-mediated DNA vaccination in various experimental animal models of human diseases, and the description of biolistic delivery of molecules other than nucleic acids. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. All-inclusive and cutting-edge, Biolistic DNA Delivery: Methods and Protocols brings together the knowledge and the experience of leading experts in the field of gene transfer in order to serve all researchers who wish to further our abilities in this vital field.

Sequence-specific DNA binding ligands, amongst which triple helix forming oligonucleotides are the most efficient as yet, represent promising tools in a number of fields. One of their most promising applications is as antiviral tools: they can specifically target a viral gene, even if it is integrated into the host genome, and be used to specifically inactivate the viral gene or even destroy the cells harboring this gene. However, from science fiction to science there remains a gap; and we are at the moment on the threshold of this fascinating field. Triple Helix Forming Oligonucleotides considers the different aspects of the design and improvement, current or future, of these molecules and their structural analysis, as well as their applications, with special emphasis on the attempts to obtain biological effects of these potentially important tools. What emerges is that the current state of the research is encouraging, and that these molecules are already useful in some biotechnology applications.

Post-transcriptional Gene Regulation in Human Disease, a new volume in the Translational Epigenetics book series, offers a thorough overview and discussion of post-transcriptional genetic control mechanisms and their roles across various pathologies and human developmental outcomes, along with regulatory mechanisms targeted for therapeutic approaches. The book is broadly divided in two parts: early chapters describe the basics of post-transcriptional gene regulation, associated epigenetic mechanisms, the role of RNA binding proteins, the evolution of post-transcriptional gene regulation, and methods to study these mechanisms. The second half of the book includes deeper discussion of post-transcriptional gene regulation across specific diseases and therapeutics targets. Various post-transcriptional events, including alternative splicing and polyadenylation, mRNA stability, and miRNAs and their involvement in the disease progression, are examined in detail.