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These last years, a new class of proteins involved in the regulation of gene expression has been unraveled besides such classical elements as polymerases, transcription factors or enhancers, directly responsible for gene expression. This class introduces a second order level of regulation which is superimposed on that of the standard regulators and is revealed by epigenetic modifications. One end of this group is occupied by the so-called gene insulators such as CTCF that organize the action of the standard regulators and of invasive chromatin in order to limit and target their action to a specific gene or genetic entity. At the other end, one would find the proteins operating at the level of the whole genome and of cellular programming, such as SATB1. They are specific proteins nearly totally dedicated to organization and coordination of gene expression, like CTCF, or proteins also found involved in other cellular devices, like transcription factors extracted from the transcriptional machinery , such as TFIIIC, or proteins involved in sister chromatid cohesion, like cohesin. But they share in common to generally act over long distances or between chromosomes, to structure a true intra- or inter-chromosomal genomic architecture, and to mainly act at the epigenetic level. Their role in the control of gene expression is certified by the increasing number of pathologies to which their dysfunction contributes.
The patenting and licensing of human genetic material and proteins represents an extension of intellectual property (IP) rights to naturally occurring biological material and scientific information, much of it well upstream of drugs and other disease therapies. This report concludes that IP restrictions rarely impose significant burdens on biomedical research, but there are reasons to be apprehensive about their future impact on scientific advances in this area. The report recommends 13 actions that policy-makers, courts, universities, and health and patent officials should take to prevent the increasingly complex web of IP protections from getting in the way of potential breakthroughs in genomic and proteomic research. It endorses the National Institutes of Health guidelines for technology licensing, data sharing, and research material exchanges and says that oversight of compliance should be strengthened. It recommends enactment of a statutory exception from infringement liability for research on a patented invention and raising the bar somewhat to qualify for a patent on upstream research discoveries in biotechnology. With respect to genetic diagnostic tests to detect patient mutations associated with certain diseases, the report urges patent holders to allow others to perform the tests for purposes of verifying the results.
There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.
Guide to Biochemistry provides a comprehensive account of the essential aspects of biochemistry. This book discusses a variety of topics, including biological molecules, enzymes, amino acids, nucleic acids, and eukaryotic cellular organizations. Organized into 19 chapters, this book begins with an overview of the construction of macromolecules from building-block molecules. This text then discusses the strengths of some weak acids and bases and explains the interaction of acids and bases involving the transfer of a proton from an acid to a base. Other chapters consider the effectiveness of enzymes, which can be appreciated through the comparison of spontaneous chemical reactions and enzyme-catalyzed reactions. This book discusses as well structure and function of lipids. The final chapter deals with the importance and applications of gene cloning in the fundamental biological research, which lies in the preparation of DNA fragments containing a specific gene. This book is a valuable resource for biochemists and students.
Goodman's Medical Cell Biology, Fourth Edition, has been student tested and approved for decades. This updated edition of this essential textbook provides a concise focus on eukaryotic cell biology (with a discussion of the microbiome) as it relates to human and animal disease. This is accomplished by explaining general cell biology principles in the context of organ systems and disease.This new edition is richly illustrated in full color with both descriptive schematic diagrams and laboratory findings obtained in clinical studies. This is a classic reference for moving forward into advanced study. - Includes five new chapters: Mitochondria and Disease, The Cell Biology of the Immune System, Stem Cells and Regenerative Medicine, Omics, Informatics, and Personalized Medicine, and The Microbiome and Disease - Contains over 150 new illustrations, along with revised and updated illustrations - Maintains the same vision as the prior editions, teaching cell biology in a medically relevant manner in a concise, focused textbook
Molecular-Genetic and Statistical Techniques for Behavioral and Neural Research presents the most exciting molecular and recombinant DNA techniques used in the analysis of brain function and behavior, a critical piece of the puzzle for clinicians, scientists, course instructors and advanced undergraduate and graduate students. Chapters examine neuroinformatics, genetic and neurobehavioral databases and data mining, also providing an analysis of natural genetic variation and principles and applications of forward (mutagenesis) and reverse genetics (gene targeting). In addition, the book discusses gene expression and its role in brain function and behavior, along with ethical issues in the use of animals in genetics testing. Written and edited by leading international experts, this book provides a clear presentation of the frontiers of basic research as well as translationally relevant techniques that are used by neurobehavioral geneticists. - Focuses on new techniques, including electrocorticography, functional mapping, stereo EEG, motor evoked potentials, optical coherence tomography, magnetoencephalography, laser evoked potentials, transmagnetic stimulation, and motor evoked potentials - Presents the most exciting molecular and recombinant DNA techniques used in the analysis of brain function and behavior - Written and edited by leading international experts
This book presents an overview of the state-of-the-art in barley genome analysis, covering all aspects of sequencing the genome and translating this important information into new knowledge in basic and applied crop plant biology and new tools for research and crop improvement. Unlimited access to a high-quality reference sequence is removing one of the major constraints in basic and applied research. This book summarizes the advanced knowledge of the composition of the barley genome, its genes and the much larger non-coding part of the genome, and how this information facilitates studying the specific characteristics of barley. One of the oldest domesticated crops, barley is the small grain cereal species that is best adapted to the highest altitudes and latitudes, and it exhibits the greatest tolerance to most abiotic stresses. With comprehensive access to the genome sequence, barley’s importance as a genetic model in comparative studies on crop species like wheat, rye, oats and even rice is likely to increase.
The motivation for us to conceive this series of volumes on regulation was mainly our belief that it would be fun, and at the same time productive, to approach the subject in a way that differs from that of other treatises. We thought it might be interesting and instructive for both author and reader-to examine a particular area of investigation in a framework of many different problems. Cutting across the traditional boundaries that have separated the subjects in past volumes on regulation is not an easy thing to do-not because it is difficult to think of what interesting topics should replace the old ones, but because it is difficult to find authors who are willing to write about areas outside those pursued in their own laboratories. Anyone who takes on the task of reviewing a broad area of interest must weave together its various parts by picking up the threads from many different laboratories, and attempt to produce a fabric with a meaningful design. Finding persons who are likely to succeed in such a task was the most difficult part of our job. In the first volume of this treatise, most of the chapters dealt with the mechanisms of The second volume involved a somewhat regulation of gene expression in microorganisms. broader area, spanning the prokaryotic-eukaryotic border. Topics ranged from phage mor phogenesis to the role of gradients in development. The last volume-Volume 3A-con cerned hormones, as does this volume-Volume 3B.
This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.