Hox Genes: Methods and Protocols explores techniques and methodologies which arose from or were successfully applied to the study of Hox genes and Hox proteins, at the intersection of experimental embryology, genetics, biochemistry, physiology, evolutionary biology and other life sciences. This detailed volume begins with a section on discovery and functional analysis of Hox genes and then it continues onward to discuss mode of action and biomedical applications of Hox proteins. 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. Expert and practical, Hox Genes: Methods and Protocols serves as an ideal guide to researchers striving to move forward in this dynamic and exciting area of study.

Regulatory Non-Coding RNAs: Methods and Protocols offers a collection of methods for those interested in the discovery, localization, and functional analysis of these non-coding transcripts that have the potential and ability to orchestrate and control gene expression. After a review of the field, this detailed volume continues with methods useful for the study of siRNAs, microRNAs and their targets, techniques concerned with long non-coding RNAs, as well as studies of the critical parameters of functional non-coding RNA protein-RNA interactions and the environment in which they act. Written for the highly successful Methods in Molecular Biology series, chapters include brief introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols and tips for troubleshooting and avoiding known pitfalls. Dependable and easy to use, Regulatory Non-Coding RNAs: Methods and Protocols provides a current, state-of-the-art collection of methods and approaches that will be of value to researchers in this expanding and fascinating field.

Transcription Factor Regulatory Methods details various techniques ranging from cutting-edge to general techniques use to study transcription factor regulatory networks. 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 key tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Transcription Factor Regulatory Methods aids scientists in the further study into post-genomic or the personal genomic era.

Motor dysfunction and cognitive impairment are major symptoms in both Huntington’s Disease (HD) and Parkinson’s Disease (PD). A breakthrough in HD research was the identification of the gene that causes this devastating monogenetic illness. Similarly, several genes were found to cause familial forms of PD. With their identification, a plethora of genetic animal models has been generated and has revolutionized the understanding of the pathobiology and pathophysiology of these disorders. The models allow us to study the earliest manifestations of the diseases behaviorally and neuropathologically and help us understand how they progress over time. Additionally, neurotoxic animal models are still of high interest to the PD field, as they are being used to study e.g. mitochondrial dysfunction in PD. This book focuses on animal models of both diseases and how they have helped and will continue to help understand the behavioral neurobiology in these disorders.

Nuclear Receptors focuses on the structural analysis of nuclear receptors from the initial work using isolated protein domains to the more recent exciting developments investigating the conformational shape of full-length receptor complexes. The book also reviews the structure of key nuclear receptor co-regulatory proteins. It brings together, for the first time, a comprehensive review of nuclear receptor structure and the importance of receptor conformation underpinning allosteric regulation by different ligands (hormone, drugs, DNA response elements, protein-protein interactions) and receptor activity. The nuclear receptor superfamily, including receptors for steroid hormones and non-steroid ligands, are pivotal to normal physiology, regulating processes as diverse as reproduction, metabolism, the immune system and brain development. The first members of the family were cloned over 25 years ago, which heralded in the idea of a superfamily of intracellular receptor proteins that bound small molecule ligands: classical steroid hormones, vitamins, fatty acids and other products of metabolism. These signals are then transmitted through multiprotein receptor-DNA complexes, leading to the regulation of target genes, often in a cell-selective manner. The cloning of the receptor cDNAs also ushered in an era of unparalleled analysis of the mechanisms of action of these ligand-activated transcription factors.

This book, written by experienced geneticists, covers topics ranging from the natural history of the mouse species, its handling and reproduction in the laboratory, and its classical genetics and cytogenetics, to modern issues including the analysis of the transcriptome, the parental imprinting and X-chromosome inactivation. The strategies for creating all sorts of mutations, either by genetic engineering or by using mutagens, are also reviewed and discussed in detail. Finally, a last chapter outlines the methodology used for the analysis of complex or quantitative traits. The authors also discuss the importance of accurate phenotyping, which is now performed in the mouse clinics established worldwide and identify the limits of the mouse model, which under certain circumstances can fail to present the phenotype expected from the cognate condition in the human model. For each chapter an up-to-date list of pertinent references is provided. In short, this book offers an essential resource for all scientists who use or plan to use mice in their research.

The work described in this book is an excellent example of interdisciplinary research in systems biology. It shows how concepts and approaches from the field of physics can be efficiently used to answer biological questions and reports on a novel methodology involving creative computer-based analyses of high-throughput biological data. Many of the findings described in the book, which are the result of collaborations between the author (a theoretical scientist) and experimental biologists and between different laboratories, have been published in high-quality peer-reviewed journals such as Molecular Cell and Nature. However, while those publications address different aspects of post-transcriptional gene regulation, this book provides readers with a complete, coherent and logical view of the research project as a whole. The introduction presents post-transcriptional gene regulation from a distinct angle, highlighting aspects of information theory and evolution and laying the groundwork for the questions addressed in the subsequent chapters, which concern the regulation of the transcriptome as the primary functional carrier of active genetic information.

This book provides a timely review of the role of histone modifications in epigenetic control of gene expression. Topics covered include: basic mechanisms of molecular recognition of histone post-translational modification (PTMs); combinatorial readout of histone PTMs by tandem epigenome reader domains; genome-wide profiling of histone PTM interactions; small molecule modulation of histone PTM interactions and their potential as a new approach to therapeutic intervention in human diseases. All chapters were written by leading scientists who made the original key discoveries of the structure and mechanism of evolutionarily conserved reader domains, which serve to direct gene transcription in chromatin through interactions with DNA-packing histones in a PTM-sensitive manner.

Pharmacogenomics supports personalized medicine by translating genome-based knowledge into clinical practice, offering enhanced benefit for patients and health-care systems at large. Current routine practice for diagnosing and treating patients is conducted by correlating parameters such as age, gender and weight with risks and expected treatment outcomes. In the new era of personalized medicine the healthcare provider is equipped with improved ability to prevent, diagnose, treat and predict outcomes on the basis of complex information sources, including genetic and genomic data.  Targeted therapy and reliable prediction of expected outcomes offer patients access to better healthcare management, by way of identifying the therapies effective for the relevant patient group, avoiding prescription of unnecessary treatment and reducing the likelihood of developing adverse drug reactions.

Intriguing new findings on how genes and environments work together through different stages of life take the spotlight in this significant collection. Studies from infancy to late adulthood show both forces as shaping individuals' relationships within family and non-family contexts, and examine how these relationships, in turn, continue to shape the individual. Transitional periods, in which individuals become more autonomous and relationships and personal identities become more complicated, receive special emphasis. In addition, chapters shed light on the extent to which the quantity and quality of genetic and environmental influence may shift across and even within life stages. Included in the coverage: Gene-environment interplay in parenting young children. The sibling relationship as a source of shared environment. Gene-environment transactions in childhood and adolescent problematic peer relationships. Toward a developmentally sensitive and genetically informed perspective on popularity. Spouse, parent, and co-worker: roles and relationships in adulthood. The family system as a unit of clinical care: the role of genetic systems. Behavioral geneticists, clinical psychologists, and family therapists will find in Gene-Environment Interplay in Interpersonal Relationships across the Lifespan a window into current thinking on the subject, new perspectives for understanding clients and cases, and ideas for further study.

This important book proposes revising the current informed consent protocol for predictive genetic testing to reflect the trend toward patient-centered medicine. Emphasizing the predictive aspect of testing, the author analyzes the state of informed consent procedure in terms of three components: comprehension of risk assessment, disclosure to select appropriate treatment, and voluntariness. The book's revised model revisits these cornerstones, restructuring the consent process to allow for expanded comprehension time, enhanced patient safety, greater patient involvement and autonomy, and reduced chance of coercion by family or others. A comparison of the current and revised versions and case studies showing the new model in real-world applications add extra usefulness to this resource. Included in the coverage: The science behind PGT. Understanding genetic risks and probability. The history of informed consent. Revised model of informed consent: comprehension, disclosure, voluntariness, patient safety. Applications of the model in DTC and pleiotropic genetic testing. Implementation of the revised model, and assessing its effectiveness. A milestone in the bioethics literature, Informed Consent in Predictive Genetic Testing will be of considerable interest to genetic counselors, medical and bioethicists, and public health professionals.

This volume explores the myriad of techniques and methodological approaches that are being used in breast cancer research. The authors critically evaluate of the advantages and disadvantages of current methodologies, starting with the tools available for understanding the architecture of the human breast, including its tissue and cellular composition. The volume discusses the importance of functional studies in breast cancer research, especially with the help of laser capture microdissection, which allows the separation of small amounts of tissue, as well as specific cells, for biochemical analysis. In addition, the authors address methodologies including stem cell separation, which has helped in significantly understanding their role in normal breast development, but also further the understanding of breast cancer and its therapeutic management. The use of in vitro techniques and established cell lines for mechanistic studies in chemotherapeutic approaches have been invaluable will be discussed. Imaging techniques for evaluating in vitro and in vivo behavior of normal and cancerous breast tissue will be explored, as it provides a better understanding of the physiopathology of cancer. The volume will also discuss the molecular analysis of gene function in breast cancer through the transcriptomic and epigenomic profile. More importantly, the advancement of more refined techniques in sequencing will be covered. This monograph will be a comprehensive, authoritative and timely, as it addresses the emerging approaches used in breast cancer research.

Human beings have been using intoxicating substances for millennia. But while most people have used psychoactive substances without becoming dependent on them, a significant minority develop substance use disorders. The question remains: why does addiction occur in some and not others? The 61st installment of the Nebraska Symposium on Motivation, Genes and the Motivation to Use Substances probes the complex role of genetics in substance use and abuse across diverse methodologies, research organisms, levels of analysis and disciplines. Its combined lifespan/motivation approach to individual differences sheds necessary light on genetic vs. environmental factors in vulnerability, addiction risk, the relationship between behavioral disinhibition and substance use and the motivation to quit. While alcohol use/abuse is the focus of much of the book, its chapters provide scientific and clinical insights into substance abuse in general as well as implications for treatment. And an intriguing conclusion discusses the need to bridge the gap between genetics and neuroscience and the best scientific conditions in which this integration may thrive. Included in the coverage: * Rodent models of genetic contributions to the motivation to use alcohol. * The adolescent origins of substance abuse disorders * The developmental matrix of addictive behavior * The genetics of cannabis involvement * The DNA methylation signature of smoking * Genomics of impulsivity: integrating genetics and neuroscience. Reflecting the current state of knowledge in a field with groundbreaking potential, Genes and the Motivation to Use Substances is a fascinating resource for psychologists, psychiatrists, geneticists, neuroscientists, social workers, policymakers and researchers in addiction.

This book will contain the proceedings of the XV International Symposium on Retinal Degeneration (RD2012). A majority of those who will speak and present posters at the meeting will contribute to this volume. The blinding diseases of inherited retinal degenerations have no treatments, and age-related macular degeneration has no cures, despite the fact that it is an epidemic among the elderly, with 1 in 3-4 affected by the age of 70. The RD Symposium will focus on the exciting new developments aimed at understanding these diseases and providing therapies for them. Since most major scientists in the field of retinal degenerations attend the biennial RD Symposia, they are known by most as the "best" and "most important" meetings in the field. The volume will present representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy. While advances in these areas of retinal degenerations will be described, there will be many new topics that either were in their infancy or did not exist at the time of the last RD Symposium, RD2010. These include the role of inflammation and immunity, as well as other basic mechanisms, in age-related macular degeneration, several new aspects of gene therapy, and revolutionary new imaging and functional testing that will have a huge impact on the diagnosis and following the course of retinal degenerations, as well as to provide new quantitative endpoints for clinical trials. The retina is an approachable part of the central nervous system (CNS), and there is a major interest in neuroprotective and gene therapy for CNS diseases and neurodegenerations, in general. It should be noted that with successful and exciting initial clinical trials in neuroprotective and gene therapy, including the restoration of sight in blind children, the retinal degeneration therapies are leading the way towards new therapeutic measures for neurodegenerations of the CNS. Many of the successes recently reported in these areas of retinal degeneration sprang from collaborations established at previous RD Symposia, and many of those will be reported at the RD2010 meeting and included in the proposed volume. We anticipate the excitement of those working in the field and those afflicted with retinal degenerations will be reflected in the volume.

Molecular Toxicology Protocols, Second Edition aims to bring together a series of articles describing validated methods to elucidate specific molecular aspects of toxicology, the emphasis being on the application of molecular methods to genetic toxicology. The volume is divided into ten parts, roughly corresponding to the spectrum of biomarkers intermediate between exposure and disease outcomes as proposed in molecular epidemiology models. Subjects of these new chapters range from preparation of fluid specimens for analysis of cellular inflammatory responses to genotoxic insults to sensitive methods for proteomic analysis and aberrant DNA methylation patterns. Written in the 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 protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and easily accessible, Molecular Toxicology Protocols, Second Edition addresses not only the needs of molecular biologists and toxicologists, but also those of individuals interested in applying molecular methods to clinical applications, such as geneticists, pathologists, biochemists, and epidemiologists.

This book discusses the emergence of a new class of genes with a specific anticancer activity. These genes, recently defined as “Anticancer Genes”, are reviewed in individual chapters on their mode of action, the specific cell death signals they induce, and the status of attempts to translate them into clinical application. Anticancer Genes provides an overview of this nascent field, its genesis, current state, and prospect. It discusses how Anticancer Genes might lead to the identification of a repertoire of signaling pathways directed against cellular alterations that are specific for tumor cells. With contributions from experts worldwide, Anticancer Genes is an essential guide to this dynamic topic for researchers and students in cancer research, molecular medicine, pharmacology and toxicology and genetics as well as clinicians and clinical researchers interested in the therapeutic potential of this exciting new field.

This book presents an overview of the RNA networks controlling gene expression in fungi highlighting the remaining questions and future challenges in this area.It covers several aspects of the RNA-mediated mechanisms that regulate gene expression in model yeasts and filamentous fungi, organisms of great importance for industry, medicine and agriculture. It is estimated that there are more than one million fungal species on the Earth. Despite their diversity (saprophytic, parasitic and mutualistic), fungi share common features distinctive from plants and animals and have been grouped taxonomically as an independent eukaryotic kingdom. In this book, 15 chapters written by experts in their fields cover the RNA-dependent processes that take place in a fungal cell ranging from formation of coding and non-coding RNAs to mRNA translation, ribosomal RNA biogenesis, gene silencing, RNA editing and epigenetic regulation.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

This book explores key applications of phage biotechnology and reviews recent advances in phage display technologies. The applications covered were selected on the basis of their significance and representativeness in the field. The small size and enormous diversity of bacteriophages make them ideal candidates for numerous applications across many industries. Since the discovery of phages and the advent of phage display systems, considerable attention has been focused on the development of novel therapeutic and industrial applications. Recent studies combine the genomic flexibility of phages with phage display systems in order to generate modified phages for targeted delivery.

The aim of molecular diagnostics is preferentially to detect a developing disease before any symptoms appear. There has been a significant increase, fueled by technologies from the human genome project, in the availability of nucleic acid sequence information for all living organisms including bacteria and viruses. When combined with a different type of instrumentation applied, the resulting diagnostics is specific and sensitive. Nucleic acid-based medical diagnosis detects specific DNAs or RNAs from the infecting organism or virus and a specific gene or the expression of a gene associated with a disease. Nucleic acid approaches also stimulate a basic science by opening lines of inquiry that will lead to greater understanding of the molecules at the center of life. One can follow Richard Feynman’s famous statement “What I cannot create, I do not understand.”

This book discusses the common principles of morality and ethics derived from divinely endowed intuitive reason through the creation of al-fitr' a (nature) and human intellect (al-‘aql). Biomedical topics are presented and ethical issues related to topics such as genetic testing, assisted reproduction and organ transplantation are discussed. Whereas these natural sources are God’s special gifts to human beings, God’s revelation as given to the prophets is the supernatural source of divine guidance through which human communities have been guided at all times through history. The second part of the book concentrates on the objectives of Islamic religious practice – the maqa' sid – which include: Preservation of Faith, Preservation of Life, Preservation of Mind (intellect and reason), Preservation of Progeny (al-nasl) and Preservation of Property. Lastly, the third part of the book discusses selected topical issues, including abortion, assisted reproduction devices, genetics, organ transplantation, brain death and end-of-life aspects. For each topic, the current medical evidence is followed by a detailed discussion of the ethical issues involved.

This book provides an introduction to the latest gene mapping techniques and their applications in biomedical research and evolutionary biology. It especially highlights the advances made in large-scale genomic sequencing. Results of studies that illustrate how the new approaches have improved our understanding of the genetic basis of complex phenotypes including multifactorial diseases (e.g., cardiovascular disease, type 2 diabetes, and obesity), anatomic characteristics (e.g., the craniofacial complex), and neurological and behavioral phenotypes (e.g., human brain structure and nonhuman primate behavior) are presented. Topics covered include linkage and association methods, gene expression, copy number variation, next-generation sequencing, comparative genomics, population structure, and a discussion of the Human Genome Project. Further included are discussions of the use of statistical genetic and genetic epidemiologic techniques to decipher the genetic architecture of normal and disease-related complex phenotypes using data from both humans and non-human primates.

'Beautiful to read and packed with cutting-edge science' Observer 'Poetic, mind-stretching and, through it all, deeply human' Daniel Levitin Mental illness is one of the greatest causes of human suffering, its nature and origin a long-held mystery. But thanks to new science and technology, our understanding has reached a tipping point. In Connections, Professor Karl Deisseroth intertwines his own breakthrough discoveries with moving case studies from his experience as an emergency psychiatry physician, in order to tell a wider story about the origins of human emotion. Addressing some of the most timeless questions about the human condition while illuminating the roots of misunderstood disorders such as depression, psychosis, schizophrenia and sociopathy, Connections transforms the way we understand the brain, and forges a bold new path forward in our understanding of mental health. 'Revelatory . . . it recalls the case histories of Oliver Sacks, at times the sweep of Yuval Harari's Sapiens. He writes with an evident love of words - but also, with a lucid line of scientific enquiry' Guardian 'A master storyteller. His graceful prose weaves a tapestry of complex ideas into memorable stories, each illuminated by cutting-edge science. A delight' Kathryn Mannix, author of With the End in Mind

This book comprises proceedings from the Third International Conference on Advances in Nutrition and Cancer, held in Naples in May 2012. This highly multidisciplinary meeting analyzed “nutrition and cancer” from different perspectives and on the basis of distinct and up-to-date experimental approaches. Knowledge on the relation between lifestyle, diet, and cancer is explored in a number of contributions, and the role of dietary intervention in cancer patients is discussed. Issues of vital interest to the research community, such as epidemiological and experimental oncology (genetics, epigenetics, and the mechanisms of action of natural compounds in the diet), receive detailed consideration. A further key topic is the emerging molecular technologies (the “omics”) that can cast light on the interplay between nutrition and human malignancies. Chapters take the form of reviews that include sections presenting expert opinions.

This volume on nucleic acid nanotechnology offers authoritative, up-to-date and comprehensive coverage of nanotechnological studies and applications of nucleic acids. It provides reviews of various aspects of nucleic acid nanotechnology, each written by an internationally leading expert in the field, and presents state-of-the-art and recent advances in nucleic acid synthetic modifications, nanoscale design, manipulation and current and future applications in bioengineering, medicine, electronics, genetic analysis, chemistry, molecular biology, surface and material sciences. It examines how nucleic acid research is merging with nanotechnology, allowing the nanoscale properties of nucleic acid to be exploited in performing challenging nanotechnological tasks, from nanorobotics and nanosensing to nucleic acid computing. This book will above all benefit anyone who is interested in nanotechnological concepts of nucleic acid design and applications, and offers a valuable resource for teaching these concepts. It is essential reading for a broad audience of scientists both in academia and industry who wish to expand their expertise on the potential of nucleic acid functions and applications.