This open access textbook leads the reader from basic concepts of chromatin structure and function and RNA mechanisms to the understanding of epigenetics, imprinting, regeneration and reprogramming. The textbook treats epigenetic phenomena in animals, as well as plants. Written by four internationally known experts and senior lecturers in this field, it provides a valuable tool for Master- and PhD- students who need to comprehend the principles of epigenetics, or wish to gain a deeper knowledge in this field. After reading this book, the student will: Have an understanding of the basic toolbox of epigenetic regulation Know how genetic and epigenetic information layers are interconnected Be able to explain complex epigenetic phenomena by understanding the structures and principles of the underlying molecular mechanisms Understand how misregulated epigenetic mechanisms can lead to disease

We live in an era of personalized medicine and the knowledge about pathophysiology of diffuse gastric cancer has had many advances. Thus, the role of this work is to clarify what is new from diagnosis to treatment of this disease in order to treat patients in the most tailored manner as possible. Almost all phase III trials in gastric cancer have been performed without taking in consideration histologic subtypes, i.e. they have disregarded the differences between diffuse gastric cancer and general gastric cancer. However, the clinical practice reveals that diffuse gastric cancer is a completely distinct disease, with an aggressive course and generally worse prognosis. The loss of cohesion between tumor cells due to the loss of E-cadherin synthesis is the critical point on the oncogenesis of diffuse gastric cancer and is at the root of its marked heredity. This book intends to give special attention to Diffuse Gastric Cancer as a particular oncological entity, differentiating it from general gastric cancer, exploring and discussing all its peculiarities, and addressing the basic aspects (pathology and genetics) along with the most recent therapeutic alternatives for this condition.

This book presents descriptive overviews of gene editing strategies across multiple species while also offering in-depth insight on complex cases of application in the field of tissue engineering and regenerative medicine. Chapters feature contributions from leaders in stem cell therapy and biology, providing a comprehensive view of the application of gene therapy in numerous fields with an emphasis on ophthalmology, stem cells, and agriculture. The book also highlights recent major technological advances, including ZFN, TALEN, and CRISPR. Precision Medicine, CRISPR, and Genome Engineering is part of the highly successful Advances in Experimental Medicine and Biology series. It is an indispensable resource for researchers and students in genetics as well as clinicians.

This thesis outlines the development of the very first technology for high-throughput analysis of paired heavy and light-chain antibody sequences, opening an entirely new window for antibody discovery and the investigation of adaptive immune responses to vaccines and diseases. Previous methods for high-throughput immune repertoire sequencing have been unable to provide information on the identity of immune receptor pairs encoded by individual B or T lymphocytes. The author directly addresses these limitations by designing two new technologies for sequencing multiple mRNA transcripts from up to 10 million isolated, single cells. The techniques developed in this work have enabled comprehensive interrogation of human B-cell repertoires and have been applied for rapid discovery of new human antibodies, to gain new insights into the development of human antibody repertoires, and for analysis of human immune responses to vaccination and disease.

This book examines the current research in gene-environment transactions (GEX) and its potential use in developing interventions and applications tailored to individual genetic makeups. Key concepts underlying GEX studies in this area are defined, identifying fundamental challenges in devising informed research questions and conducting valid and useful experiments. Chapters analyze GEX models inspired by the present day genome-based frameworks, particularly in terms of advances in identifying and understanding complex environmental factors, using examples from common psychological conditions, such as antisocial behavior, chronic physical aggression, and chronic internalizing disorder. In addition, the book presents new and potential applications of the framework in the contexts of prevention science and intervention research. Topics featured in this book include: Epigenetics and the biology of gene x environment interactions. Gene by environment interactions and its potential use for intervention strategies in anxiety disorders. The challenges and potential for research on gene-environment interactions within autism spectrum disorder. Using genetically informed prevention trials to test gene x environment hypothese. Challenges for intervention research within the GEX framework. Gene-Environment Transactions in Developmental Psychopathology is a must-have resource for researchers/professors, clinicians, and related professionals as well as graduate students in developmental psychology, psychiatry, human genetics, and related disciplines.

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.

Written by 30 authors from all over the world, this book provides a unique overview of exciting discoveries and surprising developments in human genetics over the last 50 years. The individual contributions, based on seven international workshops on the history of human genetics, cover a diverse range of topics, including the early years of the discipline, gene mapping and diagnostics. Further, they discuss the status quo of human genetics in different countries and highlight the value of genetic counseling as an important subfield of medical genetics.

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 brings together and updates the latest information on the diversity of yeasts, their molecular features and their applications in the welfare of mankind. Yeasts are eukaryotic microfungi widely found in natural environments, including those with extreme conditions such as low temperatures, low oxygen levels and low water availability. To date, approximately 2,000 of the estimated 30,000 to 45,000 species of yeast on Earth, belonging to around 200 genera have been described. Although there are a few that are opportunistic human and animal pathogens, the vast majority of yeasts are beneficial, playing an important role in the food chain and in the carbon, nitrogen and sulphur cycles. In addition, yeasts such as Saccharomyces cerevisiae, Hansenula polymorpha and Pichia pastoris are used in expressing foreign genes to produce proteins of pharmaceutical interest. A landmark in biotechnology was reached in 1996 with the completion of sequencing of the entire S. cerevisiae genome, and it has now become a central player in the development of an entirely new approach to biological research and synthetic biology. The sequencing of genomes of several yeasts including Schizosaccharomyces pombe, Candida albicans and Cryptococcus neofromans has also recently been completed.

This volume is a collection of miRNA detection and target identification protocols, detailing new developments in the traditional detection approaches such as northern blot, quantitative real-time PCR, array, next generation sequencing, and in situ hybridization. The chapters in MicroRNA Detection and Target Identification: Methods and Protocols guide readers through novel approaches such as nanotechnology, microfluidics, based detection methods, analysis of serum and urinary, miRNAs as biomarkers, target identification and experimental 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 practical, MicroRNA Detection and Target Identification: Methods and Protocols aims to ensure successful results in the further study of this vital field.

This detailed volume describes a spectrum of methods and protocols that can be used for the bench-to-bedside development and evaluation of retinal gene therapy. Methods for the successful delivery of these gene therapy vector systems to the retina are examined, as well as assays to test the efficacy in vitro in cell cultures, for gene augmentation and gene editing in vivo on rodents, pigs, and monkey retinas, and on human retinal explants as well as in human clinical studies. Written for the highly successful Methods in Molecular Biology series, chapters include 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. Authoritative and practical, Retinal Gene Therapy: Methods and Protocols provides a wide range of readers from students to research experts with vital information on ocular gene therapy vector technology, in vitro and in vivo biological assays, and clinical protocols, to promote further studies for the benefit of children and adults with inherited retinal disease.

Should parents aim to make their children as normal as possible to increase their chances to "fit in"? Are neurological and mental health conditions a part of children's identity and if so, should parents aim to remove or treat these? Should they aim to instill self-control in their children? Should prospective parents take steps to insure that, of all the children they could have, they choose the ones with the best likely start in life? This volume explores all of these questions and more. Against the background of recent findings and expected advances in neuroscience and genetics, the extent and limits of parental responsibility are increasingly unclear. Awareness of the effects of parental choices on children's wellbeing, as well as evolving norms about the moral status of children, have further increased expectations from (prospective) parents to take up and act on their changing responsibilities. The contributors discuss conceptual issues such as the meaning and sources of moral responsibility, normality, treatment, and identity. They also explore more practical issues such as how responsibility for children is practiced in Yoruba culture in Nigeria or how parents and health professionals in Belgium perceive the dilemmas generated by prenatal diagnosis.

The aim of the book is to discuss the application of molecular pathology in cancer research, and its contribution in the classification of different tumors and identification of potential molecular targets, as well as how this knowledge may be translated into clinical practice, and the huge impact this field is likely to have in the next 5 to 10 years.

This volume details protocols for genetic, molecular, cytological, and bioinformatic methods for determining haplotypes. Haplotyping: Methods and Protocols guides readers through methods that directly type haploid cells, difficult-to-resolve gene families, high-resolution, short range haplotyping for targeted loci, and long-range haplotyping for whole chromosomes or genomes. 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 practical Haplotyping: Methods and Protocols, aims to provide researchers with an overview of experimental methods for haplotyping.

This book argues that despite the many real advantages that industrial modernity has yielded-including large gains in wealth, longevity, and (possibly) happiness-it has occurred together with the appearance of a variety of serious problems. Chief among these are probable losses in subjective existential purpose and increases in psychopathology. A highly original theory of the ultimate basis of these trends is advanced, which unites prior work in psychometrics and evolutionary science. This theory builds on the social epistasis amplification model to argue that genetic and epigenetic changes in modernizing and modernized populations, stemming from shifts in selective pressures related to industrialization, have lowered human fitness and wellness.

This detailed volume focuses on population epigenetics, which is of increasing interest to policy makers searching for explanations for complex epidemiological observations and conceptual models on which to base interventions. With a concentration on DNA methylation, the emphasis is on the most commonly studied epigenetic phenomenon that is most amenable to further study. Written for the highly successful Methods in Molecular Biology series, 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 practical, Population Epigenetics: Methods and Protocols aims to aid population researchers in exploiting the latest insights into epigenetics to improve our understanding of the factors that influence human health and longevity.

This unique book explores the role of retrotransposons in human health and disease. The ability of retrotransposons to affect the structure of human genes is recognized since the late 80's. However, the advances of deep-sequencing technologies have shed new light on the extent of retrotransposon-mediated genome variations. These progresses have also led to the discovery that retrotransposon activity is not restricted to the germline - resulting in inheritable genetic variations - but can also mobilize in somatic tissues, such as embryonic stem cells, neuronal progenitor cells, or in many cancers. This book covers topics related to the effects of retrotransposon insertions, and their consequences on germline and somatic genome dynamics, but also discuss the role and impact of retrotransposons sequences in a broader context, including a number of novel topics that emerged recently (long non-coding RNA, neuronal disorders, exaptation) with unexpected connections between retrotransposons, stem cell maintenance, placentation, circadian cycles or aging.

This volume focuses on the use of system genetic methods and the use of murine models to study the role of gene variants and environmental factors on human health and disease-what is now often called personalized or precision health care. The protocols in this book will help readers analyze genetic causes of heritable variation across a wide range of systems and traits using rodent models. The chapters in this book are separated into three sections that cover: 1) resources for systems genetics; 2) tools for analysis and integration in systems genetics; and 3) systems genetics use cases. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and tools, step-by-step, readily reproducible protocols, and tips on troubleshooting and avoiding known pitfalls. Practical and thorough, Systems Genetics: Methods and Protocols is a valuable resource for anyone who is interested in this diverse field.

Heat Shock Proteins and Plants provides the most up-to-date and concise reviews and progress on the role of heat shock proteins in plant biology, structure and function and is subdivided into chapters focused on Small Plant HSPs (Part I), Larger Plant HSPs (Part II) and HSPs for Therapeutic Gain (Part III). This book is written by eminent leaders and experts from around the world and is an important reference book and a must-read for undergraduate, postgraduate students and researchers in the fields of Agriculture, Botany, Crop Research, Plant Genetics and Biochemistry, Biotechnology, Drug Development and Pharmaceutical Sciences.

This volume focuses on mitochondrial RNA metabolism, emphasizing recent discoveries and technological advances in this fast moving area that increase our understanding of mitochondrial gene function. Topics addressed include the interplay of mitochondria with the nucleus and cytosol, structure-function connections, and relevance to human disease. Mitochondria are the powerhouses of the cell, and a great deal is known about mitochondrial energy metabolism. Less well known is the plethora of amazing mechanisms that have evolved to control expression of mitochondrial genomes. Several RNA processes and machineries in protozoa, plants, flies and humans are discussed, including: transcription and RNA polymerase mechanism; tRNA processing of 5' and 3' ends; mRNA maturation by nucleotide insertion/deletion editing and by RNA splicing; mRNA stability; and RNA import. Specialized factors and ribonucleoproteins (RNPs) examined include pentatricopeptide repeat (PPR) proteins, RNase P, polymerases, helicases, nucleases, editing and repair enzymes. Remarkable features of these processes and factors are either not found outside mitochondria, differ substantially among eukaryotic lineages, or are unique in biology.

This comprehensive text provides a much-needed review of a disease that is currently garnering the interest of molecular biologists, translational scientists, and clinicians. The volume includes emerging developments in the molecular genetics of endometrial carcinoma. In addition to covering the basic genetics of endometrial carcinoma, chapters also cover a wide range of signaling pathways implicated in endometrial carcinoma. A section of the book includes a number of genetically engineered mouse models, which contribute to understanding the role of various genetic alterations in the development and progression of endometrial carcinoma. These models also provide preclinical models for developing effective targeted therapeutic approaches. Endometrial carcinoma is the most common malignancy of the female genital tract in the United States and the number of cases continues to increase around the world. This book is a meant to serve as a resource for a wide range of scientists, from molecular geneticists to signal transduction biologists, as well as to both clinicians and scientists interested in developing targeted therapeutic approaches for women with endometrial carcinoma.

This volume provides protocols and procedures for determining and modeling RNA structure. Chapters guide the reader through protocols for RNA secondary structure prediction, single sequence modeling, Crumple, RNAstructure to model conserved secondary structures with multiple homologs, the prediction of bimolecular secondary structures with RNAstructure, STarMir, protocols for structure mapping, mapping data to constrain or restrain RNA secondary structure prediction with RNAstructure, unassigned NMR resonances, modeling protocols for Rosetta FARFAR, RNAComposer , ModeRNA, and MC-Fold. 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 Practical, RNA Structure Determination: Methods and Protocols aims to ensure successful results in the further study of this vital field.

This book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS, FXPOI and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments. The book will present information on all aspects of FXTAS, FXPOI and other premutation disorders including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed.

This book highlights key technologies and identifies areas for further development in proteogenomics. The utility and usefulness of very large Omics data sets (Next Gen Sequencing of DNA, RNA-seq, ribosome profiling, mass spectrometry- and antibody-based proteomics) is discussed and opportunities and challenges of related bioinformatics applications are outlined. The reader will be able to appreciate the interdisciplinary nature of the continuously evolving area of proteogenomics, which has already grown beyond its original concept of verifying gene annotations by proteomics. The chapters presented in this book are arranged to offer a general overview, rather than to provide detailed descriptions of technologies. The selected applications will provide useful insight into the level of detail that can be obtained in relation to certain diseases areas, including cancer biology and personalized medicine. The readers will find that each chapter delivers a comprehensive approach to proteogenomics, each from the point of view of a specific application. Research scientists interested in innovative processes that can offer a unique and at the same time a more complete access to technological developments and concepts that in turn can contribute to a better understand biological functions should read this book.

This book gives an in-depth overview on nuclear structure and function. It clearly shows that the epigenome and the three-dimensional organization of the nucleus are not independent properties. The intimate relationship between the location and the epigenetic modifications of gene loci is highlighted. Finally, it shows that the complex three-dimensional organization of the nucleus is not just of academic interest: The structure, composition and function of virtually all of the sub-nuclear compartments identified so far can be implicated to a list of human genetic diseases. Hence, a detailed elucidation of how these domains are assembled and function will provide new opportunities for therapeutic intervention in clinical practice.