This book presents up-to-date information on the origins of the Ashkenazic Jewish people from central and eastern Europe based on genetic research on modern and pre-modern populations. It focuses on the 129 maternal haplogroups that the author confirmed that Ashkenazim have acquired from distinct female ancestors who were indigenous to diverse lands that include Israel, Italy, Poland, Germany, North Africa, and China, revealing both their Israelite inheritance and the lasting legacy of conversions to Judaism. Genetic connections between Ashkenazic Jews and other Jewish populations, including Turkish Jews, Moroccan Jews, Tunisian Jews, Iranian Jews, and Cochin Jews, are indicated wherever they are known.

This volume explores and challenges the assumption that behavioral proclivities and pathologies are directly traceable to experience-an assumption that still widely dominates folk psychology as well as the perspective of many mental health practitioners. This tendency continues despite powerful evidence from the field of behavioral genetics that genetic endowment dwarfs other discrete influences on development and psychopathology when extrinsic conditions are not extreme. An interdisciplinary collection, the book uses historical, cultural and clinical perspectives to challenge the longstanding notion of identity as the product of a life-narrative. Although the nativist-empiricist debate has been revivified by recent advances in molecular biology, such ideas date back to the Socratic dialogue on the innate mathematical sense possessed by an illiterate slave. The author takes a philosophical and historical approach in revisiting the writings of select figures from science, medicine, and literature whose insights into the potency of inherited factors in behavior were particularly prescient, and ran contrary to the modern declivity toward the self as narrative. The final part of the volume uses historical and clinical perspectives to help illuminate the elusive concept of innateness, and highlights important ramifications of the revolution in behavioral genetics. Seeking to challenge the clinical utility of the therapeutic narrative rather than the importance of experience per se, the book will ultimately appeal to psychiatrists, psychologists, and academics from various disciplines working across the fields of behavioral genetics, evolutionary biology, philosophy of science, and the history of science.

This volume explores methods and protocols for detecting epistasis from genetic data. Chapters provide methods and protocols demonstrating approaches to identify epistasis, genetic epistasis testing, genome-wide epistatic SNP networks, epistasis detection through machine learning, and complex interaction analysis using trigenic synthetic genetic array ( -SGA). Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, application details for both the expert and non-expert reader, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Epistasis: Methods and Protocols aims to ensure successful results in the further study of this vital field. "Simulating Evolution in Asexual Populations with Epistasis" is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

This book presents protocols for identification of genetic drivers of cancer. Chapters guide readers through a brief history of cancer gene discovery, in silico approaches, in vitro approaches, and in vivo approaches using forward genetic screens in mice. 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, Cancer Driver Genes: Methods and Protocols aims to provide protocols that will be used and adapted by cancer researchers to expand the knowledge base of molecular mechanisms contributing to initiation, progression, and metastasis of cancer.

It is now almost a decade since the identification of the Huntington's Disease gene and its mutation, during which time, major advances in our understanding of this disorder have been achieved. Since publication of the first two editions of this book, there have been considerable insights into how the mutation leads to the molecular pathology, neuropathology and clinical symptoms of Huntington's Disease, and experimental tools are now in place to take this research further towards new therapeutic approaches. As a result of these major advances, this well-established series of books has required radical updating. An international group of researchers and clinicians with specialist interests in HD has been commissioned to document the recent advances in our understanding of this disease. Developments in the fields of structural biology, cell biology, neurochemistry and neuropathology, with full coverage of transgenic animal models, are discussed in detail. The clinical sections cover genetic, neurological and psychiatric aspects as well as new developments in therapy. This book will continue to provide an invaluable source of information for clinicians and scientists involved with Huntington's Disease, including geneticists, psychiatrists and neurologists, and basic science research workers in genetics and neurobiology.

This book brings together what is currently known in terms of basic research in the field of long noncoding RNAs (lncRNAs) and builds on this to delve more deeply in the specific roles that lncRNAs are playing during inflammation. The book provides readers with basic knowledge on lncRNAs: from understanding the complexity of the transcriptome, conservation, structure and the tools used to investigate these aspects, to how we use this information to study lncRNAs in a specific biological context. The volume covers the emerging roles of lncRNAs in the initial stages of inflammation as well as their roles in specific inflammatory diseases including arthritis, lupus, diabetes and cardiovascular disease. The book also shows the emerging interest in using lncRNAs as a therapeutic target and how this could impact our ability to diagnose and treat inflammatory diseases in the future.

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.

Structure of a Human Rhinovirus Complexed with its Receptor Molecule; N.H. Olson, et al. Cascade Regulation of Vaccinia Virus Gene Expression; B. Moss. Transcriptional Activation by the Adenovirus E1A Proteins; B.A. Lewis, T. Shenk. Mechanisms Regulating Nucleocapsid Formation of the Hepatitis B Viruses; R. Bartenschlager, H. Schaller. Transcriptional Activation by the Hepatitis B Virus X Protein; R. Lucito, R.J. Schneider. Transcription Factors of the ETS Family; K. Macleod, et al. Structure and Function of the Vesicular Stomatitis Virus RNA-Dependent RNA Polymerase; S. Barik, et al. RNA Synthesis and mRNA Editing in Paramyxovirus Infections; J. Curran, et al. Translational Regulation by Reovirus Structural Proteins; A.J. Shatkin, et al. The Regulation of Coronavirus Gene Expression; S.G. Siddell. Aspects of the Molecular Biology of Poliovirus Replication; J. Harber, E. Wimmer. 9 additional articles. Index.

Due to continuous technical developments and new insights into the high complexity of neurological diseases, there is an increasing need for the application of proteomic technologies which can yield potential biomarker readouts for improved clinical management as well as for the development of new drugs by struggling pharmaceutical companies. This book describes the step-by-step use of proteomic methods such as two-dimensional gel electrophoresis, multiplex immunoassay, liquid chromatography mass spectrometry (LC-MS) and selective reaction monitoring MS, to increase our understanding of these diseases, with the ultimate aim of improving patient care. The volume will be of high interest to clinical scientists, physicians and pharmaceutical company scientists as it gives insights into the latest technologies enabling the revolution of personalized medicine. It is of direct interest to both technical and bench biomarker scientists as it gives step by step instructions on how to carry out each of the protocols. It is also of interest to researchers as each technique will be presented in the context of a specific neurological disorder, including Alzheimer's disease, multiple sclerosis, autism spectrum disorders, schizophrenia, major depressive disorder and bipolar disorder. Finally, it will also highlight the future research efforts in this field, which are endeavoring to convert proteomic platforms to the form of hand held devices which can be used in a point of care setting and return diagnostic results within the timeframe of a visit to the general practitioner.

MicroRNAs constitute a particularly important class of small RNAs given their abundance, broad phylogenetic conservation and strong regulatory effects, with plant miRNAs uniquely divulging their ancient evolutionary origins and their strong post-transcriptional regulatory effects. In Plant MicroRNAs: Methods and Protocols, experts in the field present chapters that focus on the identification, validation, and characterization of the miRNA class of RNAs, and address important aspects about heterochromatic small interfering RNAs. In addition, the methods contained in this volume emphasize miRNA analyses, but also include ways to distinguish one class of small RNAs from another. As a volume in the highly successful Methods in Molecular Biology (TM) series, chapters include brief 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 easy to use, Plant MicroRNAs: Methods and Protocols provides the research community with a set of protocols that will help advance vital miRNA research for all plant species, both in typical model species and non-model species alike.

This volume presents detailed laboratory procedures in an easy to follow format that can be carried out with success by investigators lacking previous exposure to a specific research method. Chapter guide readers through the application of molecular approaches to disease gene identification and overviews, and case studies are also presented. 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, Disease Gene Identification: Methods and Protocols, Second Edition aims to help with the identification and characterization of many more disease-related genes and provide novel, and effective strategies for disease treatment and prevention.

Juxtaposing contributions from geneticists and anthropologists, this volume provides a contemporary overview of cousin marriage and what is happening at the interface of public policy, the management of genetic risk and changing cultural practices in the Middle East and in multi-ethnic Europe. It offers a cross-cultural exploration of practices of cousin marriage in the light of new genetic understanding of consanguineous marriage and its possible health risks. Overall, the volume presents a reflective, interdisciplinary analysis of the social and ethical issues raised by both the discourse of risk in cousin marriage, as well as existing and potential interventions to promote "healthy consanguinity" via new genetic technologies.

Development of cancer, a dreadful disease of mankind, is a multi-stage process involving numerous molecular alterations at both genomic and proteomic levels. Immense research for the past several decades in the field of cancer identified many such mutations and their role in carcinogenesis. Concept of 'fusion genes' seeded way back in 20th century has now grown into a new field of cancer research. However, there is a lack of knowledge among scientists about these fusion genes and their importance in cancer, which can be mainly attributed to unavailability of a comprehensive book on this topic. Therefore, this book is first of its kind and aims at giving a detailed idea on the formation of gene fusions and their importance in the development and progression of cancer; techniques to identify novel gene fusions; and therapeutics available to target various fusion proteins and their impact in cancer therapy by compiling the information from the literature available till date.

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

This volume provides readers with detailed protocols covering the main cancer cytogenetics techniques needed for clinical utilization and research purposes. The chapters in this book cover topics such as chromosome preparation for myeloid malignancies; chromosome bandings; fluorescence in situ hybridization probe preparation; array-based comparative genomic hybridization; and cytogenetic nomenclature and reporting. The updated reviews on chromosomal abnormalities in hematological malignancies are excellent guides for cytogenetics data interpretations and specific malignant diseases correlation. 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, Cancer Cytogenetics: Methods and Protocols is a valuable resource for the novice in cytogenetics because it provides helpful guiding protocols, but it's also great for those who are already engaged in the field and are looking for some technical hints.

This volume explores homologous recombination's (HR) essential role in meiotic and somatic cells. It discusses the analysis of different steps of the HR process from the genetic, molecular biology, and cell biology perspectives. Using a variety of model systems, chapters in this book cover topics such as the genome-wide mapping of DNA double-strand breaks (DSB); analysis of DNA-end resection and recombination intermediates by gel electrophoresis and southern blotting; cell-based monitoring of HR activity in meiotic and mitotic cells; in vitro analysis of branch migration, DNA strand exchange and Holliday junction resolution; or super resolution imaging of HR repair at collapsed replication forks. 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 thorough, Homologous Recombination: Methods and Protocols is a valuable resource that uses both classical and more recent approaches to answer questions on the HR mechanism. It is a useful tool for scientists working on the field of genome integrity, as well as those working in cancer biology and DNA repair.

Genomic and Precision Medicine: Primary Care, Third Edition is an invaluable resource on the state-of-the-art tools, technologies and policy issues that are required to fully realize personalized health care in the area of primary care. One of the major areas where genomic and personalized medicine is most active is the realm of the primary care practitioner. Risk, family history, personal genomics and pharmacogenomics are becoming increasingly important to the PCP and their patients, and this book discusses the implications as they relate to primary care practitioners.

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, Seventh Edition thoroughly examines medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods. Here, genetic researchers, students and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions. With regular advances in genomic technologies propelling precision medicine into the clinic, this book, which has served as the ultimate resource for clinicians integrating genetics into medical practice, continues to provide the most important information. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world's most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, this updated edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies.

Cancer Disparities, the latest in the Advances in Cancer Research series, provides invaluable information on the exciting and fast-moving field of cancer research. This latest volume presents a broad introduction to a spectrum of factors contributing to cancer disparities that include ancestral informative markers' role in properly identifying race based on genetic ancestry, basic biological pathways contributing to cancer disparities, epidemiological factors linked to cancer disparities, and social/behavioral factors influencing cancer disparities.

Genomic and Precision Medicine: Foundations, Translation, and Implementation highlights the various points along the continuum from health to disease where genomic information is impacting clinical decision-making and leading to more personalization of health care. The book pinpoints the challenges, barriers, and solutions that have been, or are being, brought forward to enable translation of genome based technologies into health care. A variety of infrastructure (data systems and EMRs), policy (regulatory, reimbursement, privacy), and research (comparative effectiveness research, learning health system approaches) strategies are also discussed. Readers will find this volume to be an invaluable resource for the translational genomics and implementation science that is required to fully realize personalized health care.

Molecular Diagnostics, Third Edition, focuses on the technologies and applications that professionals need to work in, develop, and manage a clinical diagnostic laboratory. Each chapter contains an expert introduction to each subject that is next to technical details and many applications for molecular genetic testing that can be found in comprehensive reference lists at the end of each chapter. Contents are divided into three parts, technologies, application of those technologies, and related issues. The first part is dedicated to the battery of the most widely used molecular pathology techniques. New chapters have been added, including the various new technologies involved in next-generation sequencing (mutation detection, gene expression, etc.), mass spectrometry, and protein-specific methodologies. All revised chapters have been completely updated, to include not only technology innovations, but also novel diagnostic applications. As with previous editions, each of the chapters in this section includes a brief description of the technique followed by examples from the area of expertise from the selected contributor. The second part of the book attempts to integrate previously analyzed technologies into the different aspects of molecular diagnostics, such as identification of genetically modified organisms, stem cells, pharmacogenomics, modern forensic science, molecular microbiology, and genetic diagnosis. Part three focuses on various everyday issues in a diagnostic laboratory, from genetic counseling and related ethical and psychological issues, to safety and quality management.

In "miRNA Maturation: Methods and Protocols," expert researchers in the field detail many of the methods which are now commonly used to study miRNA maturation. These included established methods such as fluorescent and non-fluorescent methods for homogenous assays of Dicer-mediated miRNA maturation or an in vivo assay for Drosha activity. Moreover, the volume also contains useful, but less-common methods that are hard to find elsewhere. 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, "miRNA Maturation: Methods and Protocols" seeks to widen the view on miRNA as biological mediator and potential drug target.

Using both epidemiological and model organism approaches, we have gained new insights into the physiological and molecular aspects of aging, which has led to significant advancements in potential anti-aging strategies. Reviews on Biomarker Studies in Aging and Anti-Aging Research presents a series of reviews in various aspects of aging and age-related disease research along with several methods which have shown progress as potential anti-aging approaches. The book is aimed at researchers in the areas of aging and chronic disease, as well as to clinical scientists, physicians and major drug companies. It provides important information on disease mechanisms, and each chapter is presented in the context of the aging process, specific chronic diseases or different therapeutic areas.