Enzymes - Mechanisms, Dynamics and Inhibition, Volume 122, the latest release in the Advances in Protein Chemistry and Structural Biology series, highlights new advances in the field, with this new volume presenting new and interesting chapters on the topics. Each chapter is written by an international board of authors.

Rigor and Reproducibility in Genetics and Genomics: Peer-reviewed, Published, Cited provides a full methodological and statistical overview for researchers, clinicians, students, and post-doctoral fellows conducting genetic and genomic research. Here, active geneticists, clinicians, and bioinformaticists offer practical solutions for a variety of challenges associated with several modern approaches in genetics and genomics, including genotyping, gene expression analysis, epigenetic analysis, GWAS, EWAS, genomic sequencing, and gene editing. Emphasis is placed on rigor and reproducibility throughout, with each section containing laboratory case-studies and classroom activities covering step-by-step protocols, best practices, and common pitfalls. Specific genetic and genomic technologies discussed include microarray analysis, DNA-seq, RNA-seq, Chip-Seq, methyl-seq, CRISPR gene editing, and CRISPR-based genetic analysis. Training exercises, supporting data, and in-depth discussions of rigor, reproducibility, and ethics in research together deliver a solid foundation in research standards for the next generation of genetic and genomic scientists.

Gene Environment Interactions: Nature and Nurture in the Twenty-first Century offers a rare, synergistic view of ongoing revelations in gene environment interaction studies, drawing together key themes from epigenetics, microbiomics, disease etiology, and toxicology to illuminate pathways for clinical translation and the paradigm shift towards precision medicine. Across eleven chapters, Dr. Smith discusses interactions with the environment, human adaptations to environmental stimuli, pathogen encounters across the centuries, epigenetic modulation of gene expression, transgenerational inheritance, the microbiome's intrinsic effects on human health, and the gene-environment etiology of cardiovascular, metabolic, psychiatric, behavioral and monogenic disorders. Later chapters illuminate how our new understanding of gene environment interactions are driving advances in precision medicine and novel treatments. In addition, the book's author shares strategies to support clinical translation of these scientific findings to improve heath literacy among the general population.

Sex, Gender, and Epigenetics: From Molecule to Bedside explores the complex interplay of sex and gender-based influences on gene expression via epigenetic mechanisms. The book provides an overview of the field and evidence gathered to-date that is followed by a discussion of epigenetic pathways by which biological sex and the impact of the environment collaborate to regulate genetic function. The book also analyzes the impact of ancestors' environmental experience on subsequent generations and describes the nature of sex-specific transmission of environmentally induced epigenetic modifications. Here, international leaders in the field discuss both sex-specific normal physiology and the experience of disease, with chapters dedicated to fetal programming, microbiome, cancer, bipolar disorder and schizophrenia, embryogenesis, and oocyte aging, among other topics.

Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling illustrates the current scope of the practice of genetics for healthcare professionals, so they can understand principles applicable to genetic testing and consultation. Written by an authoritative well-balanced team, including experienced clinical geneticists, genetic counselors, and medical subspecialists, this book adopts an accessible, easy-to-follow format. Sections are dedicated to basic genetic principles; clinical genetic and genomic testing; prenatal, clinical and cancer genetic diagnosis and counseling; and ethical and social implications in genomic medicine. Over 100 illustrative cases examine a range of prenatal, pediatric and adult genetic conditions and testing, putting these concepts and approaches into practice. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling is important for primary care providers, as patient care evolves in the current genomic-influenced world of precision medicine.

DNA Repair, Volume 45 in The Enzymes series highlights new advances in the field, with this new volume presenting interesting chapters on DNA polymerase beta and other gap-filling enzymes in mammalian base excision repair, Translesion polymerases, mechanism and function, The Rev1-Pol? Mutasome: Structure and Interactions in Translesion Synthesis, Challenges for base excision repair enzymes: acquiring access to damaged DNA in chromatin Nucleotide excision repair, DNA damage recognition mechanisms in mammalian nucleotide excision repair, Advances in understanding DNA mismatch repair, and more.

Secondary Findings in Genomic Research offers a single, highly accessible resource on interpreting, managing and disclosing secondary findings in genomic research. With chapters written by experts in the field, this book is the first to concisely explain the ethical and practical issues raised by secondary genomics findings for a multi and interdisciplinary audience of genomic researchers, translational scientists, clinicians, medical students, genetic counselors, ethicists, legal experts and law students, public policy specialists and regulators. Contributors from Europe, North America, and Asia effectively synthesize perspectives from a spectrum of different scientific, societal, and global contexts, and offer pragmatic approaches to a range of topics, including oversight, governance and policy surrounding secondary genomic results, criteria for identifying results for return, communication and consent, stakeholders' attitudes and perspectives, disclosing results, and clinical, patient-centered protocols.

Nonheme Iron Enzymes: Structures and Mechanisms, Volume 117, highlights new advances in the field, with this new volume presenting new and interesting chapters on the topics. Each chapter is written by an international board of authors.

Chromatin Readers in Health and Disease, Volume 35, a new release in the Translational Epigenetics series, gathers and makes actionable our current understanding of how chromatin readers regulate access to genetic information, and how their aberrant regulation can contribute to human pathologies. Chromatin readers discussed include 14-3-3 Dinshaw, ADD, Ankyrin, BAH, BET, BIR, BRCT, bromodomains and Kac readers, chromodomains and chromobarrel readers, citrullination readers, macrodomains and poly-ADP-ribose readers, MBT, PHD and double PHD, PWWP, SUMO (H4K12) readers, Tudor and TTD, UDR and ubiquitin, WD40, YEATS (crotonyl reader), MBD, SRA, and Methyl-RNA readers. In the book, more than a dozen leaders in the field examine a range of protein readers, their relationship to human disease, and the early therapeutics that act as chromatin signaling factors to treat cancers and Huntington's disease, among other disorders.

Nutritional Epigenomics offers a comprehensive overview of nutritional epigenomics as a mode of study, along with nutrition's role in the epigenomic regulation of disease, health and developmental processes. Here, an expert team of international contributors introduces readers to nutritional epigenomic regulators of gene expression, our diet's role in epigenomic regulation of disease and disease inheritance, caloric restriction and exercise as they relate to recent epigenomic findings, and the influence of nutritional epigenomics over circadian rhythms, aging and longevity, and fetal health and development, among other processes. Disease specific chapters address metabolic disease (obesity and diabetes), cancer, and neurodegeneration, among other disorders. Diet-gut microbiome interactions in the epigenomic regulation of disease are also discussed, as is the role of micronutrients and milk miRNAs in epigenetic regulation. Finally, chapter authors examine ongoing discussions of race and ethnicity in the social-epigenomic regulation of health and disease.

The Regulatory Genome in Adaptation, Evolution, Development, and Disease synthesizes insights from recent genomic and gene expression studies across organisms, from humans to plants, animals, and single cell life, exploring common roles gene regulation has played in adaptive evolution, as well as in developmental biology and susceptibility to disease. Here, Moyra Smith, a celebrated researcher in the field, sheds light on common themes in gene regulation across evolutionary timelines, illuminating new areas of focus and pathways for future research. Early chapters consider key elements in gene expression regulation, fundamentals of genomic alterations over time and in response to environmental and local conditions, and the role of epigenetics in adaptive evolution, with later chapters considering the role of adaptive gene regulation in healthy processes and developmental biology, as well as in disease biology. Throughout the book, a comparative approach is adopted across organisms, to highlight common evolutionary themes and genome diversity revealed by recent sequencing and GWAS studies, as well as how this informs our understanding of human adaptive evolution. The book finishes by detailing how we can use this knowledge to impact disease outcomes and healthy human metabolism, development, and physiology.

Human Reproductive and Prenatal Genetics, Second Edition provides application-driven coverage of key topics in human reproductive and prenatal genetics, including genetic control underlying the development of the reproductive tracts and gametogenesis, the genetics of fertilization and implantation, the genetic basis of female and male infertility, as well as genetic and epigenetic aspects of assisted reproduction. Also examined are the genetics and epigenetics of the placenta in normal and abnormal pregnancy, preimplantation genetic diagnosis and screening, and cutting-edge advances in noninvasive prenatal screening, prenatal genetic counseling, and bioethical and medicolegal aspects of relevance in the lab and clinic. This new edition has been fully revised to address new and evolving technologies in human reproductive genetics, with new chapters added on chromatin landscapes and sex determination, genetic alterations of placental development and preeclampsia, metabolism and inflammation in PCOS, pre-implantational genetic testing, maternal genetic disorders, bioethics, and future applications.

Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation.

Omics Technologies and Bio-Engineering: Towards Improving Quality of Life, Volume 2 is a unique reference that brings together multiple perspectives on omics research, providing in-depth analysis and insights from an international team of authors. The book delivers pivotal information that will inform and improve medical and biological research by helping readers gain more direct access to analytic data, an increased understanding on data evaluation, and a comprehensive picture on how to use omics data in molecular biology, biotechnology and human health care.

Mechanisms of DNA Recombination and Genome Rearrangements: Intersection between Homologous Recombination, DNA Replication and DNA Repair, Volume 601, the latest release in the Methods in Enzymology series, continues the legacy of this premier serial with quality chapters authored by leaders in the field. Homologous genetic recombination remains the most enigmatic process in DNA metabolism. The molecular machines of recombination preserve the integrity of the genetic material in all organisms and generate genetic diversity in evolution. The same molecular machines that support genetic integrity by orchestrating accurate repair of the most deleterious DNA lesions, however, also promote survival of cancerous cells and emergence of radiation and chemotherapy resistance. This two-volume set offers a comprehensive set of cutting edge methods to study various aspects of homologous recombination and cellular processes that utilize the enzymatic machinery of recombination. The chapters are written by the leading researches and cover a broad range of topics from the basic molecular mechanisms of recombinational proteins and enzymes to emerging cellular techniques and drug discovery efforts.

Concepts and techniques in genomics and proteomics covers the important concepts of high-throughput modern techniques used in the genomics and proteomics field. Each technique is explained with its underlying concepts, and simple line diagrams and flow charts are included to aid understanding and memory. A summary of key points precedes each chapter within the book, followed by detailed description in the subsections. Each subsection concludes with suggested relevant original references.

Epigenetics in Organ Specific Disorders, a new volume in the Translational Epigenetics series, provides a foundational overview and nuanced analysis of epigenetic gene regulation distinct to each organ type and organ specific disorders, fully elucidating the epigenetics pathways that promote and regulate disease. After a brief introduction, chapter authors compare epigenetic regulations across normal and disease conditions in different organ tissues, exploring similarities and contrasts. The role of epigenetic mechanisms in stem cells, cell-matrix interactions and cell proliferation, cell migration, cellular apoptosis, necrosis, pyknosis, tumor suppression, and immune responses across different organ types are examined in-depth. Organ specific epigenetic mechanisms and biomarkers of early use in developing drugs, which can selectively target the organ of interest, are also explored to enable new precision therapies.

DNA Replication Across Taxa, the latest volume in The Enzymes series summarizes the most important discoveries associated with DNA replication.

Methods in Enzymology: Visualizing RNA Dynamics in the Cell continues the legacy of this premier serial with quality chapters authored by leaders in the field. This volume covers research methods visualizing RNA dynamics in the cell, and includes sections on such topics as identification of RNA cis-regulatory sequences, IRAS, IMAGEtags, MERFISH, plant RNA labeling using MS2, and visualization of 5S dynamics in live cells using photostable corn probe.

Bringing together the latest methodological and scientific progress in the various research areas in the field of Environmental Genomics, this book discusses the characterization of the structure and dynamics of life, the study of the evolution and adaptation of genes and genomes, the analysis of degraded and/or old DNA, and the functional and genomic ecology of populations and communities. It also considers access to the production and sharing of NGS data and the quality of this data. As the product of the collective discussion of the active French scientific community, the book presents not only the latest technologies in the development of new sequencing methods, but also the resulting issues, challenges and prospects, in order to identify those aspects with the greatest potential for modeling and exploring the function of ecosystems.

Advanced Mechanical Models of DNA Elasticity includes coverage on 17 different DNA models and the role of elasticity in biological functions with extensive references. The novel advanced helicoidal model described reflects the direct connection between the molecule helix structure and its specific properties, including nonlinear features and transitions. It provides an introduction to the state of the field of DNA mechanics, known and widely used models with their short analysis, as well as coverage on experimental methods and data, the influence of electrical, magnetic, ionic conditions on the persistence length, and dynamics with viscosity influence. It then addresses the need to understand the nature of the non-linear overstretching transition of DNA under force and why DNA has a negative twist-stretch coupling.

Advances in Botanical Research publishes in-depth and up-to-date reviews on a wide range of topics in plant sciences. The series features several reviews by recognized experts on all aspects of plant genetics, biochemistry, cell biology, molecular biology, physiology, and ecology. Volume 78 focuses on the Genomes and Evolution of Charophytes, Bryophytes, Lycophytes, and Ferns. Sequencing of genomes of 'lower' animals such as sponges or hydrozoans has much informed our understanding of how metazoans evolved. On the plant side of things, sequencing and comparison of a moss and lycophyte genome with those of green algae and flowering plants has greatly informed our understanding of plant evolution. However, it has also become clear that we need to look into genomes of the closest algal relatives to land plants, the charophytes, and into further genomes of bryophytes, lycophytes, and ferns to unravel how land plants evolved.

Metabolic Phenotyping in Personalized and Public Healthcare provides information on the widespread recognition that a personalized or stratified approach to patient treatment may offer a more efficient and effective healthcare solution than phenotype-led approaches. In order to achieve that objective, a deep personal description is required at the level of the genome, proteome, metabolome, or preferably a combination of these aided by technology. This book, edited and written by the outstanding luminaries of this evolving field, evaluates metabolic profiling and its uses across personalized and population healthcare, while also covering the advent of new technology fields, such as surgical metabonomics. In addition, the text presents specific examples of where this technology has been used clinically and with efficacy, pointing towards a framework and protocol for usage as it hits the clinical mainstream.

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.

Omic Studies of Neurodegenerative Disease: Part A is part of a well-established international series on neuroscience that examines major areas of basic and clinical research, along with emerging and promising subfields. The book informs the reader on the current state of the studies used to evaluate the mechanisms, causes, and treatment of neurodegeneration through a combination of literature reviews and examples of current research.