This Open Access volume provides comprehensive reviews and describes the latest techniques to study eukaryotic ribosome biogenesis. For more than 50 years ribosomes are a major research topic. Our knowledge about ribosome biogenesis and function such as transcription, mRNA modification, and translation was the sine qua non for developing the powerful RNA-based vaccines against RNA-viruses causing the world-threatening Covid-19 pandemia. The chapters in this book are organized into six parts. Part One discusses a comparative survey about the unity and diversity of ribosome biogenesis in pro- and eukaryotic cells. Part Two deals with the genomic organization of eukaryotic rDNA and the role of RNA polymerase I in ribosomal RNA transcription. Part Three explores in vitro methods to study RNA polymerase I structure and its function, and Part Four analyzes the nucleo-cytoplasmic transport of assembled ribosomes and RNP complexes. Part Five covers modifications that increase the complexity of rRNAs, and Part Six provides readers with a review of eukaryotic translation and - for the first time - describes a new method to analyze translation in vitro. 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. Cutting-edge and comprehensive, Ribosome Biogenesis: Methods and Protocols is a valuable resource for scientists and researchers interested in learning more about the increasing importance of in vitro RNA-technologies.

Overall, this book illustrates the complexities of the regulation and deregulation of genes mediated through epigenetics in the development and progression of human malignancies. All the articles have been carefully chosen to represent several cancer systems with state of our knowledge on the role of epigenetic deregulation of microRNAs (miRNAs) and their target mRNAs along with epigenetic deregulation of mRNAs. This book also illustrates the role of several dietary agents, collectively called nutraceuticals or natural agents in modulating the epigenetic reprogramming of miRNAs and mRNAs for the prevention and/or treatment of human malignancies. It is well known that genetic aberrations, especially inherited through parents (somatic genetic alterations) contribute to the development of less than 10% of all cancer yet epigenetic alterations in genes especially through selective methylation and acetylation appears to be responsible for the development and progression of the vast majority of all cancers. Therefore, understanding the role of epigenetics in the regulation of genes especially through deregulated expression of miRNAs as presented in this book will allow scientists to devise targeted therapeutic strategies for re-expression of the lost genes or down-regulate the genes that are over-expressed in order to eradicate cancer. It is hoped that targeting epigenetics will not only target cancer cells but it will also target the tumor microenvironment (more like the entire tumor environment such as the entire host) for achieving better treatment outcomes for patients diagnosed with cancer which will lead to achieve the long-term objective for complete eradication of cancer. This book contains fifteen chapters which begins with the concept of systems and network biology for investigating the epigenetics of cancer followed by a series of articles on the role of miRNAs and their target genes in the biology of pancreatic cancer and other cancers such as breast, kidney, prostate and and colon. Since it is becoming increasingly clear that cancer stem cells (CSCs) are important in the development and progression of cancer, and CSCs are important in therapeutic resistance, treatment failure and tumor recurrence, thus the importance of CSCs and epigenetics has been highlighted by a very timely article on epigenetic variations of stem cell markers in cancer including miRNAs. Moreover, just targeting heterogeneous cancer cell populations may not be optimal to eradicate tumors and for which one must take a holistic approach for developing drugs that could also target the tumor microenvironment and tumor dormancy that are regulated through epigenetics. Keeping abreast with this thought process the concluding chapter provides a concept towards curative cancer therapy with maspin, which could be a unique window of opportunity to target tumor dormancy. Therefore, it suggest that targeting the tumor dormancy and the tumor microenvironment using novel therapeutics specifically by targeting epigenetics would become the future of medicine.

To understand the ethical issues raised by genetic counselling, it is necessary for the practitioner, the detached observer and the student to be aware of different perspectives. This work includes contributions from health professionals engaged in genetic counselling, and also from observers and critics of genetic counselling who have backgrounds in law, philosophy, biology, social science, and in advocacy on behalf of those with mental handicap. This diversity is designed to assist health professionals in examining their activities with a fresh eye; it may also help the observer-critic to understand the ethical problems that arise in genetic counselling practice. It is natural for health professionals to focus their concern on the immediate questions raised by individual clients, and for detached observers to consider the broader social implications of the subject.

To understand the ethical issues raised by genetic counselling, it is necessary for the practitioner, the detached observer and the student to be aware of different perspectives. This work includes contributions from health professionals engaged in genetic counselling, and also from observers and critics of genetic counselling who have backgrounds in law, philosophy, biology, social science, and in advocacy on behalf of those with mental handicap. This diversity is designed to assist health professionals in examining their activities with a fresh eye; it may also help the observer-critic to understand the ethical problems that arise in genetic counselling practice. It is natural for health professionals to focus their concern on the immediate questions raised by individual clients, and for detached observers to consider the broader social implications of the subject.

This book provides a comprehensive compilation of the evidence available regarding the role of genetic differences in the etiology of human obesities and their health and metabolic implications. It also identifies the most promising research areas, methods, and strategies for use in future efforts to understand the genetic basis of obesities and their consequences on human health. Leading researchers in their respective fields present contributed chapters on such topics as etiology and the prevalence of obesities, nongenetic determinants of obesity and fat topography, and animal models and molecular biological technology used to delineate the genetic basis of human obesities. A major portion of the book is devoted to human genetic research and clinical observations encompassing adoption studies, twin studies, family studies, single gene effects, temporal trends and etiology heterogeneity, energy intake and food preference, energy expenditure, and susceptibility to metabolic derangements in the obese state. Future directions of research in the field are covered in the book as well.

Non-coding, inhibitory microRNAs have emerged as important modulators of cellular gene expression, through a process called RNA interference (RNAi). To date, hundreds of conserved and species-specific microRNAs have been identified in organisms ranging from single-celled algae to humans. Many of these tiny RNAs are now known to play fundamental roles in developmental biology and disease pathogenesis. In addition, RNAi has emerged as a technology useful for manipulating gene expression. In "RNA Interference Techniques," expert researchers present detailed methods for designing and delivering artificial inhibitory RNAs to neural tissue and for detecting or cloning endogenous microRNAs, all in order to aid investigators' attempts to ask basic biological questions or develop therapeutics for dominant neurogenetic disorders, cancer, or viral infection. As a volume in the successful "Neuromethods" series, the chapters provide authoritative accounts of the most commonly used approaches in the field today.

Cutting-edge and concise, "RNA Interference Techniques" promises to support the vital research in the field of RNAi and miRNAs, ever-continuing to grow rapidly and gain increasing importance in basic and translational biology.

Sickle cell and thalassaemia are among the world's most common genetic conditions. They are especially common in Africa, Brazil, the Caribbean, the Middle East and Asia. They affect all ethnic groups but they particularly impact on minority ethnic groups in North America, Europe and Australasia. Much research has focused on clinical, laboratory and genetic studies of these conditions. Through a wide-ranging selection of readings based on social scientific research into sickle cell and thalassaemia, this book seeks to redress this imbalance. This is important as, through an examination of the different social, economic and cultural contexts of the lives of people living with sickle cell or thalassaemia, the contributors demonstrate that people are more than the sum of their genes and that their life experiences are rarely derived solely from the clinical severity of their condition but depend on the social context of their lives. Genetics and Global Public Health presents a new concluding chapter which highlights the critical nature of social science research for sickle cell and thalassaemia communities, providing key insights into the social contexts of human behaviour and analysing how societal arrangements could change to assist people living with either condition. It will be of great interest to postgraduate and research students as well as professionals working in the field of public health. This book was originally published as a special issue of the journal Ethnicity and Health.

This collection of essays, with an extended commentary by the editor, is concerned with developments in reproductive technology and the possibilities of genetic engineering. The volume provides a forum for debate between science and society. Leading scientists in the field explain the nature and goals of "test tube" reproduction and genetic engineering, and their eugenic implications. Other papers draw out the legal and ethical problems raised by these developments. The ethical dilemmas are discussed both from the point of view of secular moral philosophy and from a theological perspective. The extended commentary attempts to place these questions in the context of a social ethic, rather than an individualist one, in contrast to the approach adopted by the Warnock Report.

Psychiatry and clinical psychology have long been divided about the roles of nature and nurture in the pathways to psychopathology. Some clinicians offer treatment almost entirely based on neuroscience. Some psychologists offer psychotherapies almost entirely based on the impact of environmental stressors. Paris argues for a balanced middle ground between nature and nurture in human development. This book reviews and integrates research showing that the key to understanding the development of mental disorders lies in interactions between genes and environment. It explores why personality is a key determinant of how people respond to stress, functioning as a kind of psychological immune system. This model represents a shift from overly simple and reductionistic constructs, based primarily on biological risks or on psychosocial risks in development. Instead, it offers a complex and multivariate approach that encourages a broader approach to treatment. This book is essential for all mental health clinicians who are interested in understanding the roles of nature and nurture in the development of psychopathology.

The view "It's all in our genes and we cannot change it" developed in the past 150 years since Gregor Mendel's experiments with flowering pea plants. However, there is a special form of genetics, referred to as epigenetics, which does not involve any change of our genes but regulates how and when they are used. In the cell nucleus our genes are packed into chromatin, which is a complex of histone proteins and genomic DNA, representing the molecular basis of epigenetics. Our environment and lifestyle decisions influence the epigenetics of our cells and organs, i.e. epigenetics changes dynamically throughout our whole life. Thus, we have the chance to change our epigenetics in a positive as well as negative way and present the onset of diseases, such a type 2 diabetes or cancer. This textbook provides a molecular explanation how our genome is connected with environmental signals. It outlines that epigenetic programming is a learning process that results in epigenetic memory in each of the cells of our body. The central importance of epigenetics during embryogenesis and cellular differentiation as well as in the process of aging and the risk for the development of cancer are discussed. Moreover, the role of the epigenome as a molecular storage of cellular events not only in the brain but also in metabolic organs and in the immune system is described. The book represents an updated but simplified version of our textbook "Human Epigenomics" (ISBN 978-981-10-7614-8). The first five chapters explain the molecular basis of epigenetics, while the following seven chapters provide examples for the impact of epigenetics in human health and disease.

This book explains current strategies for mapping genomes of higher organisms and explores applications of gene mapping to agriculturally important species of plants and animals. It also explores the experimental techniques used for genetic and physical mapping of genes.

This book describes the identification and characterization of genetic loci that determine susceptibility to liver, mammary, or skin carcinogenesis in rodents. It focuses on protein kinases and phospholipases, and stress-related signal transduction.

Personalized Medicine: Promises and Pitfalls broadly explores the tailoring of medical treatment to a patient's characteristics, needs, and preferences during all stages of care, including prevention, diagnosis, treatment, and follow-up. The book's goal is to explain the science behind personalized medicine, what impact it may have on specific diseases, and some of the repercussions of a personalized medical approach on our medical institutions. Novel personalized therapeutic treatments and their scientific basis are discussed by covering topics as diverse as genomics, proteomics, epigenetics, integrative medicine, stem cells, and the factors that influence personal health. A personalized medical system also requires patient involvement in developing a healthy lifestyle, and so this book touches on topics such as the individual's family history, present and past lifestyle, nutrition, exercise levels, and stress factors. By explaining these broad topics in personalized medicine and the science behind them, we discover how personalized medicine can have a positive impact on an individual's health.

Aiming toward improvement in the safety, efficiency, and specificity of viral vectors for neurobiological research and clinical applications, Viral Vector Approaches in Neurobiology and Brain Diseases covers key aspects related to the use of viral vectors in neuroscience, with a major emphasis on basic mechanisms of synaptic plasticity, learning, and memory, as well as molecular neuropharmacology and experimental animal models of brain disorders. The volume begins by delving into features of the viral vectors currently available in neuroscience and their production methods, and it then continues onward to examples of successful applications of viral vector technology to psychiatric and memory research, current applications of viral vector technology in the context of neurological disorders, as well as various cutting-edge applications of viral vector technology to neuroscience, including optogenetics. Written for the Neuromethods series, the chapters of this book contain the kind of detailed description and implementation advice that promotes successful, repeatable results. Practical and up to date, Viral Vector Approaches in Neurobiology and Brain Diseases will be useful not only to neurobiologists wishing to routinely use viral vectors in the laboratory but also to experienced scientists needing detailed new protocols for a variety of experimental applications.

This volume presents forty-two methods and protocols to analyze diverse aspects of genome instability. Chapters detail mutagenesis and repair, methods to quantify and analyze the properties of DNA double-strand breaks, profile replication, replication proteins strand-specifically, genome instability, fluorescence microscopic techniques, and genomic and proteomic approaches. 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 cutting-edge, Genome Instability: Methods and Protocols aims to provide a comprehensive resource for the discovery and analysis of the proteins and pathways that are critical for stable maintenance of the genome.

The thymus is an evolutionarily ancient primary lymphoid organ common to all vertebrates in which T cell development takes place. Failing thymus function is associated with immunodeficiency and/or autoimmunity. In this volume, leading experts provide a comprehensive overview of recent advances in thymopoiesis research. The chapters cover the development of the thymic epithelial microenvironment, address the formation of a diverse and self-tolerant repertoire of T cell receptors as the basis for cellular immunity, discuss the mechanisms by which progenitor cells colonize the thymus and detail the molecular basis for T lineage decisions. The reviews illustrate the important role of the multifaceted process of thymopoiesis for adaptive immunity.

Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their understanding and knowledge. Includes new case-based studies with questions and answers throughout, in addition to multiple-choice self-assessment questions for study and review. Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics. Divides the text into three easy-to-use sections: The Scientific Basis of Human Genetics, Genetics in Medicine and Genomic Medicine, and Clinical Genetics, Counseling and Ethics Features full-color illustrations and other images that help readers visualize the appearance of genetic disorders and assist with the understanding of complex genetic structures. Contains learning features such as summary boxes, an extensive glossary of terms, online hyperlinks to important genetics websites and clinical databases, and more. Presents the extensive knowledge and experience of distinguished editors Peter D. Turnpenny and Sian Ellard, as well as new editor Ruth Cleaver. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.

The postgenomic era presents a multitude of challenges for scientists in all areas of science. The information overload from new discoveries in genomics and proteomics highlight how little we really know about the functioning of a cell. The advent of Next-Generation Sequencing technologies promises to make our genetic blueprint available to the common man. The availability of the plethora of biological information has lead to the devel- ment of new areas of science and the coining of new "omics" terms including transcr- tomics, methylomics, toxicogenomics, pharmacogenomics, metabolomics, lipidomics, and so on. Remarkable research is being conducted to understand the various aspects of human health and how processes like histone modifcations, promoter usage, alternative splicing, posttranscriptional, and posttranslational modifcations contribute to disease. The advent of systems biology has unifed chemists and biochemists alike in the struggle to eradicate or treat human disease. Microarrays have blossomed into a fast developing and cutting-edge technology that promises to become a major component of personalized medicine. The 1990s witnessed a boom in many areas including genome sequencing, combinatorial chemistry, and c- puters, all of which have contributed to the development of microarray technology from its infancy into a mature tool. The growing potential of this tool is evident from the n- ber of publications since 1991 when Fodor et al. of Affymax (now Affymetrix) frst described the microarray prototype.

This book reaches out to a wide variety of professionals in the biomedical field with an interest in inflammatory bowel disease (IBD). Enormous progress has been made in the last few years since the publication of the first edition in the study of complex diseases and IBD, with hundreds of genomic regions identified that are associated with increased risk. Authored by leading clinical and research scientists in the field, the book includes state-of-the art synopses of recent genetic findings, and their interpretation for current and future exploitation in translational approaches to personalized medicine in IBD. The book also covers risk prediction, improved diagnostic and therapeutic precision, dissection of disease phenotypes and subtypes, identification of biomarkers, and host gene-microbiota interactions of clinical relevance.

Alzheimer s Disease is the most common form of dementia. The disease is characterised by the loss of synapses and neurons in the cerebral cortexand certain subcortical regions. In the last three years, the genetics of Alzheimer s Disease has made significant advances; in fact, one could argue more than in the previous two decades. This has resulted in the identification of nine new genes and perhaps more importantly the realization that new pathways could be involved in the pathogenesis of Alzheimer s. These new pathways are now legitimate targets for therapeutic intervention, which can possibly lead to treatment or a possible cure. The aim of this book is to put all of the recent genetic data on these new genes into context. Different genetic variants will be discussed, as well as biomarkers and future possibilities.

Neuropsychiatric disorders such as schizophrenia, mood disorders, Alzheimer s disease, epilepsy, alcoholism, substance abuse and others are some of the most debilitating illnesses worldwide characterizing by the complexity of the causes, and lacking the laboratory tests that may promote diagnostic and prognostic procedures. Recent advances in neuroscience, genomic, genetic, proteomic and metabolomic knowledge and technologies have opened the way to searching biomarkers and endophenotypes, which may offer powerful and exciting opportunity to understand the etiology and the underlying pathophysiological mechanisms of neuropsychiatric disorders. The challenge now is to translate these advances into meaningful diagnostic and therapeutic advances.

This book offers a broad synthesis of the current knowledge about diverse topics of the biomarker and endophenotype strategies in neuropsychiatry. The book is organized into four interconnected volumes: Neuropsychological Endophenotypes and Biomarkers (with overview of methodological issues of the biomarker and endophenotype approaches in neuropsychiatry and some technological advances), Neuroanatomical and Neuroimaging Endophenotypes and Biomarkers, Metabolic and Peripheral Biomarkers and Molecular Genetic and Genomic Markers . The contributors are internationally and nationally recognized researchers and experts from 16 countries.

This four-volume handbook is intended for a broad spectrum of readers including neuroscientists, psychiatrists, neurologists, endocrinologists, pharmacologists, clinical psychologists, general practitioners, geriatricians, health care providers in the field of neurology and mental health interested in trends that have crystallized in the last decade, and trends that can be expected to further evolve in the coming years. It is hoped that this book will also be a useful resource for the teaching of psychiatry, neurology, psychology and mental health."

Over the past two decades, spectacular advances have been made in our understanding of the molecular genetics of cancer, leading to the pursuit of identifying genes that, when mutated, result in an increased susceptibility to the disease. In Cancer Susceptibility: Methods and Protocols, experts in the field bring together the most recent technological developments for identifying and screening cancer susceptibility genes. Divided into two clear sections, the book begins with gene identification, which updates and informs scientists working at identifying novel cancer susceptibility genes, while the second part deals with mutation screening technologies that aid scientists and clinicians working to translate this knowledge into the clinic. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters contain introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Cancer Susceptibility: Methods and Protocols is a timely collection that seeks to provide researchers with the tools to predict and combat this terrible disease.

As a college student, Werner Maas took a course in genetics in 1941 and wondered why so little was said about the biochemical action of genes in controlling the specific function of an organism. Just at that time, biochemists and geneticists began to investigate jointly the basis of gene action, especially in microorganisms. Thus, Maas was able to witness firsthand the spectacular developments that led in the next twenty-five years to a clear picture of the action of genes. The history of these remarkable discoveries is the core of this book. After 1965, building on insights gained from the work with microorganisms, studies of gene action turned to animals and plants and concentrated on processes not present in microorganisms, such as embryonic development, the role of genes in diseases, and the function of the nervous system. Because of the rapidity of technical advances made in handling genes, it has been possible to learn much about these complex processes. The last part of the book deals with these developments, which are ongoing parts of the history of gene action.

This book provides a current and integrated approach to the subject of genetic determinants of pulmonary disease with emphasis on physiologic derangements and genetic mechanisms. It describes the epidemiologic-genetic approach to chronic pulmonary disease.

Stem Cells reviews the current knowledge on stem cell science covering all its major topics, from basic cell biology to legislation. Volume II concentrates on mechanisms of stem cell regeneration in the adult organism with the aim to understand how lost tissue can be replaced during adulthood and aging. The second focus of this volume is on stem cell identification and manipulation, including applications in basic research, medicine, and industry. Volume II closes with an outlook on generalized approaches to solve legislative and ethical challenges.