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.

Written for non-experts, this volume introduces the mechanisms that underlie reticulate evolution. Chapters are either accompanied with glossaries that explain new terminology or timelines that position pioneering scholars and their major discoveries in their historical contexts. The contributing authors outline the history and original context of discovery of symbiosis, symbiogenesis, lateral gene transfer, hybridization or divergence with gene flow and infectious heredity. By applying key insights from the areas of molecular (phylo)genetics, microbiology, virology, ecology, systematics, immunology, epidemiology and computational science, they demonstrate how reticulate evolution impacts successful survival, fitness and speciation. Reticulate evolution brings forth a challenge to the standard Neo-Darwinian framework, which defines life as the outcome of bifurcation and ramification patterns brought forth by the vertical mechanism of natural selection. Reticulate evolution puts forward a pattern in the tree of life that is characterized by horizontal mergings and lineage crossings induced by symbiosis, symbiogenesis, lateral gene transfer, hybridization or divergence with gene flow and infective heredity, making the “tree of life� look more like a “web of life.� On an epistemological level, the various means by which hereditary material can be transferred horizontally challenges our classic notions of units and levels of evolution, fitness, modes of transmission, linearity, communities and biological individuality. The case studies presented examine topics including the origin of the eukaryotic cell and its organelles through symbiogenesis; the origin of algae through primary and secondary symbiosis and dinoflagellates through tertiary symbiosis; the superorganism and holobiont as units of evolution; how endosymbiosis induces speciation in multicellular life forms; transferrable and non-transferrable plasmids and how they symbiotically interact with their host; the means by which pro- and eukaryotic organisms transfer genes laterally (bacterial transformation, transduction and conjugation as well as transposons and other mobile genetic elements); hybridization and divergence with gene flow in sexually-reproducing individuals; current (human) microbiome and viriome studies that impact our knowledge concerning the evolution of organismal health and acquired immunity; and how symbiosis and symbiogenesis can be modelled in computational evolution.

The release of the complete version of the human genome sequence in 2003 has paved the way for defining gene function and genetic background for phenotypic variation in humans and allowed us to study the aging process in a new light. This new volume results from that research and focuses on the genetic and epigenetic process of aging. While the interpretation of the genome data is still in its initial stages, this new volume looks at the evolving understanding of molecular mechanisms involved in cellular processes, gene function associated with complex traits, epigenetic components involve in gene control and the creation of hypothesis-free genome-wide approaches. Longevity Genes: A Blueprint for Aging explores the genetic and genomic elements that can maintain a long life such as DNA damage mechanisms, epigenetics and the way we can use this knowledge to generate customized treatments. It touches on some of the multidisciplinary approaches as well as genomic-wide association technology used to analyze complex traits. This book describes the hunt for genes affecting complex traits using a high throughput technology, with adequate consideration for the selection of an appropriate population, applications of statistical genetics and computational biology, and most importantly, considering phenotype-genotype association studies. Longevity Genes provides coverage of not only established aspects of genetics and aging, but also new approaches and perceptions in this important area of research.

This book presents results obtained from the whole mount preparations, radiological, and histological studies of 60 pu/pu and pu/+ mice from late embryo until 3 months of age. Most mice were in the embryo to 6 week age group where vertebral developmental changes are most marked. Although vertebral abnormalities have been identified as due to mutations in the delta-like 3 (Dll3) gene, it is evident that each mouse has differing structural abnormalities. The disorder is analogous to human congenital scoliosis, a common variant of which is spondylocostal dysplasia. The histological studies presented in this book include plastic embedded sections which allow for high level resolution not only of vertebrae, intervertebral discs, and ribs but also of associated spinal cord, nerve roots and ganglia. In addition an overview of embryo and neonatal development in mouse, chick and human vertebrae is provided to better assess how and where deviant pathoanatomy occurs. The book discusses the possible variables involved in creating final deformity beyond the gene abnormality itself.

This informative new book presents an accessible account of the development of medical genetics over the past 70 years, one of the most important areas of 20th, and now 21st, century science and medicine. Based largely on the author's personal involvement and career as a leader in the field over the last half century, both in the UK and internationally, it draws on his interest and involvement in documenting the history of medical genetics. Underpinning the content is a unique series of 100 recorded interviews undertaken by the author with key older workers in the field, the majority British, providing invaluable information going back to the very beginnings of human and medical genetics. Focusing principally on medically relevant areas of genetics rather than the underlying basic science and technological aspects, the book offers a fascinating insight for those working and training in the field of clinical or laboratory aspects of medical genetics, genomics and allied areas; it will also be of interest to historians of science and medicine and to workers in the social sciences who are increasingly attracted by the social and ethical challenges posed by modern medical genetics and genomics.

Breast cancer is the most common cancer in females that accounts for highest cancer specific deaths worldwide. In the last few decades research has proven that breast cancer can be treated if diagnosed at early stages and proper therapeutic strategy is adopted. Omics-based recent approaches have unveiled the molecular mechanism behind the breast tumorigenesis and aid in identification of next-generation molecular markers for early diagnosis, prognosis and even the effective targeted therapy. Significant development has taken place in the field of omics in breast cancer in the last decade. The most promising omics approaches and their outcomes in breast cancer have been presented in this book for the first time. The book covers omics technologies and budding fields such as breast cancer miRNA, lipidomics, epigenomics, proteomics, nutrigenomics, stem cell, pharmacogenomics and personalized medicine and many more along with conventional topics such as breast cancer management etc. It is a research-based reference book useful for clinician-scientists, researchers, geneticists and health care industries involved in various aspects of breast cancer. The book will also be useful for students of biomedicine, pathology and pharmacy.

This volume is a reference handbook focusing on diseases like Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome and other heritable soft connective tissue diseases. The book presents detailed information for both basic scientists and for clinicians seeing patients. It is also a stepping stone for new investigations and studies that goes beyond the facts about the composition and biochemistry of the connective tissue and extracellular matrix, as the authors connect individual components to specific aspects of various soft tissue disorders and to the actual or potential treatment of them. Progress in Heritable Soft Connective Tissue Diseases features very prominent physicians and scientists as contributors who bring their most recent discoveries to the benefit of readers. Their expertise will help clinicians with proper diagnosis of sometimes elusive and uncommon heritable diseases of soft connective tissues. This book also offers an update on the pathophysiology of these diseases, including an emphasis on unifying aspects such as connections between embryonic development of the different types of connective tissues and systems, and the role of TGF-beta in development and physiology of soft tissues. This new set of data explains, at least in part, why many of these disorders are interconnected, though the primary pathophysiological events, such as gene mutations, may be different for each disorder.

The integrin family is composed of 24 members and approximately ten years ago (2003) we published a book devoted to the nine I domain integrin subunits. In this second edition, I am pleased that most of the original authors have been able to contribute to the updated version. I domain containing integrins include collagen receptors and leukocyte receptors. In 2003 the knockout mouse phenotypes for all of the I domain integrins had not yet been published; they are now, and are summarized and discussed in this edition. Interestingly, a recent 10 integrin mutation in dogs has indicated that collagen-binding integrins in the musculoskeletal system might have much more severe phenotypes in larger animals/humans compared to the mild integrin phenotypes observed in collagen-binding integrin deficient mice. This finding is further discussed in the book. In the cancer field, the microenvironment is taking center stage, and here collagen receptors on fibroblasts are predicted to play important roles in paracrine signaling, in regulating tissue stiffness and matrix remodeling. New technologies, new mouse models in combination with analyses of I integrins in larger animals/humans are thus predicted to increase our knowledge about this group of receptors. With this in mind we look forward to another 10 years of research with I domain integrins.

Most biological reactions and functions occur within a narrow range of pH. Any changes in the pH have great impacts on the biological functional at every level, including protein folding, enzymatic activities and proliferation and cell death. Therefore, maintain the pH homeostasis at the local or systemic level is one of the highest priorities for all multicellular organisms. Many redundant mechanisms are in place to maintain the pH homeostasis, a topic that is well covered in the scientific literature and medical textbooks. However, when the pH homeostasis is disrupted in various physiological adaptations and pathological situations, resulting acidity may trigger significant pathophysiological events and modulate disease outcomes. Therefore, understanding how various cells sense and react to acidity have broad impact in a wide variety of human diseases, including cancer, stroke, myocardial infarction and diabetes, renal and infectious diseases. In this book, many investigators have summarized the molecular genetics on the detailed mechanisms by which different mammalian cells sense and response acidity. These chapters cover the acidity with broad impact in biological understanding and human diseases and review various sensing mechanism and cellular responses to pH alterations in both physiological (taste, pain) and pathological settings (ischemia and cancers). Furthermore, these authors present a broad spectrum of investigative approaches to cellular response to acidosis in a in wide variety of human diseases.

This new edition explores current and emerging mutagenesis methods focusing specifically on mammalian systems and commonly used model organisms through comprehensive coverage and detailed protocols. Since the first edition, major advances and discoveries have made chromosomal mutagenesis a widely used technique and one that is available to any molecular biology laboratory, and this collection provides detailed protocols, case-studies, and reviews from thought-leaders in the field. 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 fully updated, Chromosomal Mutagenesis, Second Edition aims to help speed scientific discovery and aid in the next advances in the 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.

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.

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 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 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.

In DNA Cloning and Assembly Methods, expert researchers in the field detail many of the methods which are now commonly used for DNA cloning and make cloning procedures faster, more reliable and also suitable for high-throughput handling. These include methods and protocols that are based on several mechanisms including type II and IIS restriction enzymes, single stranded annealing, sequence overlap, and recombination. With additional chapters on software programs that are suitable for primer design, a feature crucial for the functionality of the described methods. 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, DNA Cloning and Assembly Methods seeks to provide scientist with a valuable and useful resource for wet lab researchers within life sciences.

Electroporation gene therapy, or gene electrotransfer, has evolved greatly over the last few decades as a result of the remarkable progress in genetic sequencing, gene array analysis, gene cloning, gene expression detection, DNA manufacture and discovery and synthesis of siRNA. Electroporation Protocols: Preclinical and Clinical Gene Medicine, Second Edition provides in-depth knowledge on the delivery of naked DNA and small-interfering RNA (siRNA) to the targeted cells, tissues, and animals for prevention and treatment of disease. It builds on the success of the first edition and on the progress made in siRNA delivery and DNA vaccines for large animals as well as discovery of electroporation applications for the fragile tissues and for internal organs. 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, Electroporation Protocols: Preclinical and Clinical Gene Medicine, Second Edition aims to provide not only comprehensive coverage of the basic theory and practical application of electroporation siRNA therapy, gene therapy, and vaccine, but also elaborates on the most current views from the experts in this field, serving as an invaluable resource for investigators both in and outside of this field.

Primary Aldosteronism (PA) is a disease caused by the overproduction of aldosterone hormone from the adrenal glands. PA causes hypertension and the majority with this disease are undiagnosed for PA. There are new insights into this matter by using biochemistry as well as advanced radiology. In 2011, a breakthrough in the genetic derangements came, identifying a mutated potassium channel gene - KCNJ5 - in about 40% of PA with adenoma. Chapters in this book include a history of the disorder, epidemiology, genetics derangements, the KCNJ5 mutations and phenotype and more.

The huge potential for gene therapy to cure a wide range of diseases has led to high expectations and a great increase in research efforts in this area, particularly in the study of delivery via viral vectors, widely considered to be more efficient than DNA transfection. In Viral Vectors for Gene Therapy: Methods and Protocols, experts in the field present a collection of their knowledge and experience featuring methodologies that involve virus production, transferring protocols, and evaluating the efficacy of gene products. While thoroughly covering the most popular viral vector systems of adenovirus, retrovirus, and adeno-associated virus, this detailed volume also explores less common viral vector systems such as baculovirus, herpes virus, and measles virus, the growing interest in which is creating a considerable demand for large scale manufacturing and purification procedures. Written in the highly successful Methods in Molecular Biology (TM) series format, many chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and vital tips on troubleshooting and avoiding known pitfalls. Comprehensive and practical, Viral Vectors for Gene Therapy: Methods and Protocols provides basic principles accessible to scientists from a wide variety of backgrounds for the development of gene therapy viral products that are safe and effective.

PIWI-interacting RNAs (piRNAs) are the third and most-recently discovered group of silencing-inducible small RNAs in animals. PIWI-Interacting RNAs: Methods and Protocols provides the most recent methods and protocols for studying piRNAs in the gonads of a wide range of species, as well as in any other organs where piRNAs may be detected. Comprehensive high-throughput sequencing analysis of piRNAs in embryos, testes and ovaries of D. melanogaster, as well as in mouse and rat testes, has raised the profile of piRNAs and thus further accelerated piRNA studies. In addition to C. elegans, other model species such as Drosophila melanogaster, Arabidopsis thaliana and mice, along with cultured cell lines such as HeLa and Drosophila Schneider 2 (S2), and other such organisms have been used to address the fundamental questions of the biogenesis and functions of RNAi-triggering small non-coding RNAs. 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, PIWI-Interacting RNAs: Methods and Protocols seeks to serve both established researchers and newcomers to the field to progress towards the ultimate goal of understanding the mechanisms and actions of piRNAs.

"Omics for Personalized Medicine" will give to its prospective readers the insight of both the current developments and the future potential of personalized medicine. The book brings into light how the pharmacogenomics and omics technologies are bringing a revolution in transforming the medicine and the health care sector for the better. Students of biomedical research and medicine along with medical professionals will benefit tremendously from the book by gaining from the diverse fields of knowledge of new age personalized medicine presented in the highly detailed chapters of the book. The book chapters are divided into two sections for convenient reading with the first section covering the general aspects of pharmaocogenomic technology that includes latest research and development in omics technologies. The first section also highlights the role of omics in modern clinical trials and even discusses the ethical consideration in pharmocogenomics. The second section is focusing on the development of personalized medicine in several areas of human health. The topics covered range from metabolic and neurological disorders to non-communicable as well as infectious diseases, and even explores the role of pharmacogenomics in cell therapy and transplantation technology. Thirty-four chapters of the book cover several aspects of pharmacogenomics and personalized medicine and have taken into consideration the varied interest of the readers from different fields of biomedical research and medicine. Advent of pharmacogenomics is the future of modern medicine, which has resulted from culmination of decades of research and now is showing the way forward. The book is an honest endeavour of researchers from all over the world to disseminate the latest knowledge and knowhow in personalized medicine to the community health researchers in particular and the educated public in general.

microRNAs (miRNAs) are small non-coding RNAs that regulate various biological phenomena, such as development and homeostasis. The dysregulation of miRNA leads to disease progression, particularly of cancer. In Circulating MicroRNAs: Methods and Protocols, expert researchers in the field detail recent advances in the isolation, purification and analysis of circulating miRNAs from a variety of sources for research. The book is divided into three main topics. The first section involves the study of secretory miRNAs in cell-cell communication, and the second, the study of circulating miRNAs in body fluids. The last describes the novel techniques used to study circulating miRNAs. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and key tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Circulating MicroRNAs: Methods and Protocols seeks to aid scientists in dealing with the recent advances of RNAi technology from the bench to the bedside.

Long non-coding RNAs (lnc)RNAs have emerged as a new paradigm in epigenetic regulation of the genome. Thousands of lncRNAs have been identified and observed in a wide range of organisms. Unlike mRNA, lncRNA have no protein-coding capacity. So, while their function is not entirely clear, they may serve as key organizers of protein complexes that allow for higher order regulatory events. Discovering these functions has been the result of intense research done of the last few years, and lncRNA research has had several critical developments during that time. This book will consolidate these ideas and models to better examine the most important issues in lncRNA biology. This will include critical studies that have led to the discovery and annotation of lncRNAs in numerous species, and the molecular mechanisms for a few lncRNA that have begun to emerge.

Quorum sensing (QS) describes a chemical communication behavior that is nearly universal among bacteria. Individual cells release a diffusible small molecule (an autoinducer) into their environment. A high concentration of this autoinducer serves as a signal of high population density, triggering new patterns of gene expression throughout the population. However QS is often much more complex than this simple census-taking behavior. Many QS bacteria produce and detect multiple autoinducers, which generate quorum signal cross talk with each other and with other bacterial species. QS gene regulatory networks respond to a range of physiological and environmental inputs in addition to autoinducer signals. While a host of individual QS systems have been characterized in great molecular and chemical detail, quorum communication raises many fundamental quantitative problems which are increasingly attracting the attention of physical scientists and mathematicians. Key questions include: What kinds of information can a bacterium gather about its environment through QS? What physical principles ultimately constrain the efficacy of diffusion-based communication? How do QS regulatory networks maximize information throughput while minimizing undesirable noise and cross talk? How does QS function in complex, spatially structured environments such as biofilms? Previous books and reviews have focused on the microbiology and biochemistry of QS. With contributions by leading scientists and mathematicians working in the field of physical biology, this volume examines the interplay of diffusion and signaling, collective and coupled dynamics of gene regulation, and spatiotemporal QS phenomena. Chapters will describe experimental studies of QS in natural and engineered or microfabricated bacterial environments, as well as modeling of QS on length scales spanning from the molecular to macroscopic. The book aims to educate physical scientists and quantitative-oriented biologists on the application of physics-based experiment and analysis, together with appropriate modeling, in the understanding and interpretation of the pervasive phenomenon of microbial quorum communication.

In DNA Electrophoresis: Methods and Protocols, expert researchers in the field detail many of the methods which are now commonly used to study DNA using electrophoresis as the major approach. A powerful tool that allows separating DNA molecules according to their size and shape, this volume includes methods and techniques such as 2-dimentional gel electrophoresis as the major approach. These include methods and techniques such as 2-dimentional gel electrophoresis, DNA electrophoresis under conditions in which DNA molecules are completely or partially denatured during the runs, Pulse Field Gel Electrophoresis, electrophoresis coupled to fluorescence in situ hybridization, as well as protein-DNA interactions studied using electrophoreses. 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, DNA Electrophoresis: Methods and Protocols aids scientists in continuing to study DNA dynamics both in live cells and in test tubes.