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.

Subtilisin is the most extensively studied model system for protein engineering. The primary motivating factor for the interest in subtilisin is the commercial utility of this class of proteases. The subtilisin symposium was the first international meeting to bring together a large number of groups that have focused on the subtilisins and the subtilases-the protein superfamily of subtilisin-like enzymes. The results presented at the symposium are in this way a unique compendium of a broad spectrum of work largely focused on harnessing the potential of site-directed mutagenesis to understand and deliberately alter the function of these enzymes toward a desired end. This sort of protein engineering has been extremely successful in subtilisin, with many such "engineered" enzymes now widely used in commer cial enterprises. In this regard the experience derived from subtilisin does represent practical protein engineering. It is becoming clear that subtilisin represents a larger class of enzymes, the subtilases, that include many of the human pro hormone-converting enzymes. As international collabo rative efforts to sequence entire genomes continue, we can reasonably expect that additional members of the subtilase class will be encountered. Whenever interest in a member of this class of enzyme arises, the work on subtilisin will serve as a guide to the analysis for what in bacillus, fungi, and industry is an everyday workhorse enzyme.

The ongoing debate on the use of DNA profiles to identify perpetrators in criminal investigations or fathers in paternity disputes has too often been conducted with no regard to sound statistical, genetic or legal reasoning. The contributors to Human Identification: The Use of DNA Markers all have considerable experience in forensic science, statistical genetics or jurimetrics, and many of them have had to explain the scientific issues involved in using DNA profiles to judges and juries. Although the authors hold differing views on some of the issues, they have all produced accounts which pay due attention to the, sometimes troubling, issues of independence of components of the profiles and of population substructures. The book presents the considerable evolution of ideas that has occurred since the 1992 Report of the National Research Council of the U.S. Audience: Indispensable to forensic scientists, laying out the concepts to all those with an interest in the use of genetic information. The chapters and exhaustive bibliography are vital information for all lawyers who must prosecute or defend DNA cases, and to judges trying such cases.

Herpesviruses, classified in the family Herpesviridae, are important human and animal pathogens that can cause primary, latent or recurrent infections and even cancer. The major interest in research on herpesviruses today focuses on understanding the organization of the DNA genome, as well as on characterizing the viral genes in regard to their control and function. Modern techniques have allowed the viral DNA to become a molecular tool in the study of gene function, since it is now possible to implant the DNA into eukaryotic cells. This book contains original studies on the structure and organization of the DNA of human and animal herpes viruses. The various chapters acquaint the reader with the organization of the viral DNA, the mRNA transcripts, the replicative intermediates of the viral DNA, defective DNA genomes and their mode of synthesis, analyses of the viral DNA sequences in transformed cells, and the relationship between the presence of viral DNA fragments in the cancer cells and the transformed state of the cells."

In 1996, we organized a workshop, inter alia, at the National Research Co- cil in Milan under the generous sponsorship of the European Science Foun- tion. On that occasion, a small group of investigators convened from many countries and presented early evidence of the possibility of assembling basic units of mammalian chromosomes into artificial constructs (or, indeed, red- ing the relevant components to more manageable dimensions and defined c- stitution). Progress in the following years has been slow but steady. Many scientists who took part in the workshop have since been engaged in active and prod- tive research. It goes to the credit of Humana Press to have realized the need for a book on artificial chromosomes that aims to provide better tools to all scientists committed to this field who are confronted with very difficult tech- cal problems. We have strived to cover in Mammalian Artificial Chromosomes: Methods and Protocols all relevant areas of artificial chromosome research, from basic genetics to daring attempts to build new tools for genetic therapy. We are of course grateful to the authors who have accepted the task of describing the technical steps and pitfalls that can be encountered in their research. Rarely has a very delicate methodology been presented with such meticulous care. We have been helped in this enterprise by the excellent librarian of the LITA Institute in Segrate, Italy, Ms. Claudia Piergigli, whom we thank warmly. Ms.

In the preface to Sir Vincent B. Wigglesworth's classic 1939 book on insect physiology he asserted that insects provide an ideal medium in which to study all the problems of physiology. A strong case can be made as well for the use of insects as significant systems for the study of behavior and genetics. Contributions to genetics through decades of research on Drosophila species have made this small fly the most important metazoan in genetics research. At the same time, population and behavioral research on insects and other invertebrates have provid ed new perspectives that can be combined with the genetics approach. Through such in tegrated research we are able to identify evolutionary genetics of behavior as a highly signifi cant emerging area of interest. These perspectives are ably described by Dr. Guy Bush in the introductory chapter of this book. During March 21-24, 1983, many of the world's leading scientists in invertebrate behavioral genetics were drawn together in Gainesville, Florida, for a colloquium entitled "Evolutionary Genetics of Invertebrate Behavior." This conference was sponsored jointly by the Department of Entomology and Nematology, University of Florida, chaired by Dr. Daniel Shankland, and the Insect Attractants, Behavior and Basic Biology Research Laboratory, U.S. Department of Agriculture, directed then by Dr. Derrell Chambers.

The central question of this book is whether or not particular cell entities of human origin ought to be considered human beings. The answer is crucial for making moral decisions for or against research and experimentation. Experts in the field discuss the production of embryonic-like pluripotent stem cells by altered nuclear transfer, parthenogenesis and reprogramming of adult somatic cells. They thoroughly analyse the biological and moral status of different cell entities, such as human stem cells, embryos and human-animal hybrid embryos, and make a decisive step towards establishing final criteria for what constitutes a human being. The topic is challenging in nature and of broad interest to all those concerned with current bioethical thought on embryonic human life and its implications for society.

Proceedings of the 2nd World Conference - Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology. The meeting took place at The Eden Roc Hotel in Miami Beach, Florida, 1/15/10 - 1/17-10. Endocrinology and more specifically, the area of sexual differentiation disorders is an evolving field of medicine. The diagnosis and treatment of Disorders of Sex Development (DSD) is multi-faceted.

This book covers a wide array of topics relevant to behavioral genetics from both a preclinical and clinical standpoint. Indeed in juxtaposing both areas of research the reader will appreciate the true translational nature of the field. Topics covered range from technical advances in genetic analysis in humans and animals to specific descriptions of advances in schizophrenia, attention disorders, depression and anxiety disorders, autism, aggression, neurodegeneration and neurodevelopmental disorders. The importance of gene-environment interactions is emphasised and the role of neuroimaging in unravelling the functional consequences of genetic variability described. This volume will be valued by both the basic scientist and clinician alike who may use it as a detailed reference book. It will also be of use to the novice to the field, to whom it will serve as an in-depth introduction to this exciting area of research.

Researchers involved in the cytogenetics and molecular genetics of human tumors will welcome this comprehensive overview of the type of aberrations that chromosome 12 presents in human solid tumors. The authors study the implications for a cytogenetic subtyping of the tumors involved and strategies for identifying the molecular changes which underlie the karyotypic alterations.
The aberrations of chromosome 12 which the book deals with are very frequent chromosomal alterations in human tumors occuring in frequent benign mesenchymal tumors, such as uterine leiomyomas and lipomas, and in tumors of epithelial origin, such as pleomorphic adenomas of the salivary glands.

Biomedical research in the first decade of the 21st century has been marked by a rapidly growing interest in epigenetics. The reasons for this are numerous, but primarily it stems from the mounting realization that research programs focused solely on DNA sequence variation, despite their breadth and depth, are unlikely to address all fundamental aspects of human biology. Some questions are evident even to non-biologists. How does a single zygote develop into a complex multicellular organism composed of dozens of different tissues and hundreds of cell types, all genetically identical but performing very different functions? Why do monozygotic twins, despite their stunning external similarities, often exhibit significant differences in personality and predisposition to disease? If environmental factors are solely the cause of such variation, why are similar differences also observed between genetically identical animals housed in a uniform environment? Over the last couple of decades, epigenetics has undergone a significant metamorphosis from an abstract developmental theory to a very dynamic and rapidly developing branch of molecular biology. This volume represents a compilation of our current understanding about the key aspects of epigenetic processes in the brain and their role in behavior. The chapters in this book bring together some of the leading researchers in the field of behavioral epigenetics. They explore many of the epigenetic processes which operate or may be operating to mediate neurobiological functions in the brain and describe how perturbations to these systems may play a key role in mediating behavior and the origin of brain diseases.

The 1st International Workshop on Acinetobacter was held on 6th September, 1986, in Manchester, England, in association with the 14th International Congress of Microbiology. That occasion was so well attended and productive that there were soon discussions about how, when and where the next meeting should be held. This time, however, there was sufficient confidence to think of a more substantial meeting and to plan for the proceedings to be published. It emerged that there was wide agreement that the time was ripe to take stock of the entire biology of Acinetobacter: its occurrence and taxonomy; its molecular biology, biochemistry and physiology; its clinical importance and its industrial and commercial applications. The 2nd International Workshop on Acinetobacter took place from 6th to 7th September, 1990, at the Institut Pasteur, Paris, and was sponsored by the Federation of European Microbiological Societies. There were about 100 participants from 19 countries. The backbone of the meeting consisted of 23 plenary lectures. There were 28 posters and the meeting closed with a general discussion which went on long after the official finishing time despite all the counter-attractions of a sunny Parisian Friday afternoon. Indeed discussions continued while cruising along the Seine and while dining at the top of the Tour Montparnasse. However, the vitality and usefulness of even the most successful meeting is difficult to transmit by the printed word.

The goal of this book is to introduce the biological and technical aspects of next generation sequencing methods, as well as algorithms to assemble these sequences into whole genomes. The book is organized into two parts; part 1 introduces NGS methods and part 2 reviews assembly algorithms and gives a good insight to these methods for readers new to the field. Gathering information, about sequencing and assembly methods together, helps both biologists and computer scientists to get a clear idea about the field. Chapters will include information about new sequencing technologies such as ChIp-seq, ChIp-chip, and De Novo sequence assembly.

Proceedings of a NATO ASI held in Crete, Greece, September 5-17, 1992.

The Ninth Annual Pezcoller Symposium entitled "The Biology of Tumors" was held in Rovereto, Italy, June 4-7, 1997. It focused on the genetic mechanisms underlying het erogeneity of tumor cell populations and tumor cell differentiation, on interactions be tween tumor cells and cells of host defenses, and the mechanisms of angiogenesis. With presentations at the cutting edge of progress and stimulating discussions, this symposium addressed issues related to phenomena concerned with cell regulation and cell interactions as determined by activated genes through the appropriate and timely media tion of gene products. Important methodologies that would allow scientists to measure dif ferentially genes and gene products and thus validate many of the mechanisms of control currently proposed were considered, as were the molecular basis of tumor recognition by the immune system, interactions between cells and molecular mechanisms of cell regula tion as they are affected by or implemented through these interactions. The molecular and cellular mechanisms of tumor vascularization were also discussed. It was recognized that angiogenesis provides a potential site of therapeutic intervention and this makes it even more important to understand the mechanisms underlying it. We wish to thank the participants in the symposium for their substantial contribu tions and their participation in the spirited discussions that followed. We would also like to thank Drs."

This volume is compiled based on the proceedings of the 5th International Plant Cold Hardiness Seminar, which was held at Oregon State University, Corvallis, Oregon, USA, August 5 to 8, 1996. Participants representing 16 nations and 22 U. S. states attended the seminar. Researchers came from major laboratories around the world involving plant cold hardiness research. The information compiled in this volume represents the state-of the-art research and our understanding of plant cold hardiness in terms of molecular biol ogy, biochemistry, and physiology. The 1996 International Plant Cold Hardiness Seminar was the fifth of the series; it was first held in 1977 at the University of Minnesota, St. Paul, MN, and since then has met every 5 years. The overall goal of this seminar series is to foster the exchange of ideas and research findings among the diverse groups of scientists studying freezing and chilling stresses from a wide variety of perspectives. This is the only international conference focus ing its programs entirely on low temperature stress in plants. In accordance with the tradi tion, the fifth conference focused on freezing and chilling stress of plants and covered various aspects of plant cold hardiness, including molecular genetics, biochemistry, physi ology, and agricultural applications. All contributors to this volume are eminent researchers who have had significant contributions to the knowledge of plant cold hardiness."

The incidence of insulin-dependent diabetes mellitus (100M) varies dramatically across racial groups and countries, with annual age-adjusted rates of approximately 40/100,000 per year in Finland, but only 0.51100,000 per year in China. Although reasons for these marked geographic differences are unknown, it is likely that genetic variations across populations play a m or role. To determine the contribution of genetic factors to the global patterns of 100M incidence, international comparative studies are now being undertaken as part of the WHO Multinational Project for Childhood Oiabetes, known as the DIAMOND Project. It is, therefore, necessary to develop and implement epidemiologic standards for these investigations which can be applied across populations. This will ensure that comparable data are obtained in all countries, and that relevant scientific questions can be properly addressed. The development of standards for molecular epidemiologic studies of 100M is the of the NATO Advanced Research Workshop. During this meeting at the objective University of Pittsburgh, scientists from across the world convened to discuss issues relating to the standardization of: 1. the collection of family history data to assess the risk of 100M in first degree relatives, 2. case-control molecular epidemiology studies of 100M susceptibility, 3. HLA family studies, 4. laboratory methods and ONA technology transfer for genetic marker evaluations.

During May 21-June 1 1990, the eleventh course of the International School of Pure and Applied Biostructure, a NATO Advanced Study Institute, was held at the Ettore Majorana Center for Scientific Culture in Erice, Italy, co-sponsored by the Italian Ministry of Universities and of Scientific and Technological Research, the North Atlantic Treaty Organization, the Italian National Research Council, the Sicilian Regional Government and Technobiochip. The subject of the course was "Molecular Basis of Human Cancer" with participants selected worldwide from 15 different countries. The purpose of the course was to address, in a tutorial and structural fashion, the molecular basis of human cancer, including the mechanism of signal transduction in mammalian cells, the genetic mechanism of malignant transformation in man, growth factors, hormone receptors, cell membrane and cytoskeleton, and DNA high order structure. The course had this as its major objective and the resulting book reflects it. The participants were exposed to a critical evaluation of current knowledge about cancer and to some of the key problems that remain as stumbling blocks to our eventual understanding of this important biological and medical problem. Through the media of formal and informal lectures, workshops, symposia and informal discussions, a select group of interested young and senior scientists were acquainted with many of the aspects of human cancer.

Scientific advances over the past two decades have afforded unprecedented oppor tunities to understand the structure and function of receptors, receptor-ligand interactions, and receptor signaling. The extent ofprogress in this area is underscored by the recent Nobel Prize for Medicine and Physiology to Alfred Gilman and Martin Rodbell, both of whose work in understanding receptorlG-protein interactions has redefined the way in which we think of how hormones and neurochemicals exert their activity on cellular function. This book is replete with examples of current research approaches to help us better understand the cellular roles in which the renin-angiotensin system and the angiotensin receptors participate. Clearly, defining the structure of angiotensin receptor subtypes is an important first step in cJarifying the mechanisms by which these receptors take part in cellular function. However, the chapters within this book range far beyond structural studies and encompass research on tissue specific expression of the angiotensin receptor subtypes, the genetic regulation ofthese receptors, and the unique function ofvarious angiotensin subtypes in different organ systems, such as the brain, the reproductive system, adipose tissue, the heart, and the kidneys."

THIS BOOK collects together papers given at a NATO Advanced Research Workshop held at Il Ciocco (Lucca), Italy, from the 9th to the 15th April, 1989. It sets out to present the current state of understanding of the principles governing the way fluxes and concentrations are maintained and controlled in metabolic systems. Although this is a topic that has held the interest of biochemists for many years, it is only quite recently that the methods of analysing the kinetics of multi-enzyme pathways developed over the past two decades have come to be widely discussed or applied experimentally. Many biochemists remain sceptical that the new methods offer a real advance (except in complexity) over the landmark discoveries of the 1950s and 1960s relating to inhibition of enzymes at branch-points by the end products of metabolic pathways, and the interpretation of allosteric effects and cooperativity. Even those who have become convinced that the classical ideas provide only the starting point for understanding metabolic control have been by no means unanimous in their assess ment of the direction in which one should advance. In this book we have tried to include all of the current points of view, including the view that the classical theories tell us all that we need to know. We have not seen it as our role as editors to paper over the cracks that exist and to pretend that we can speak to the world with one voice."

As forests decline in temperate and tropical climates, highly-developed countries and those striving for greater economic and social benefits are beginning to utilize marginal forests of high-latitude and mountainous regions for resources to satisfy human needs. The benefits of marginal forests range from purely aesthetic to providing resources for producing many goods and services demanded by a growing world population. Increased demands for forest resources and amenities and recent warming of high latitude climates have generated interest in reforestation and afforestation of marginal habitats in cold regions. Afforestation of treeless landscapes improves the environment for human habitation and provides for land use and economic prosperity. Trees are frequently planted in cold climates to rehabilitate denuded sites, for the amenity of homes and villages, and for wind shelter, recreation, agroforestry, and industrial uses. In addition, forests in cold climates reduce the albedo of the earth's surface in winter, and in summer they are small but significant long-lived sinks for atmospheric carbon dioxide. Finally, growth and reproductive success of forests at their geographic limits are sensitive indices of climatic change. As efforts to adapt forests to cold climates increase, however, new afforestation problems arise and old ones intensify. Austral, northern, and altitudinal tree limits are determined by many different factors. Current hypotheses for high-latitude tree limits are based on low growing-season temperatures that inhibit plant development and reproduction.

Translational medicine underpins vascular medicine. It is fundamental to understanding how we treat patients with vascular disease and more importantly, how to prevent it. It is the rationale for drug design and production. Vascular medicine and translational medicine will take over and become the main reason for referring patients to hospital. Therefore, hospital-based clinicians working with basic scientists need to know about translational medicine, which educates and informs them about vascular medicine and how management should be based. This book is a primer for translational vascular medicine and discusses the evolving and exciting areas of basic science applied to vascular medicine. The book is based on the third vascular biology conference held at The Royal College of Physicians in 2008. It provides a large amount of new basic and clinical information and the contributors are world leaders.

The introduction of Next Generation Sequencing (NGS) technologies resulted in a major transformation in the way scientists extract genetic information from biological systems, revealing limitless insight about the genome, transcriptome and epigenome of any species. However, with NGS, came its own challenges that require continuous development in the sequencing technologies and bioinformatics analysis of the resultant raw data and assembly of the full length genome and transcriptome. Such developments lead to outstanding improvements of the performance and coverage of sequencing and improved quality for the assembled sequences, nevertheless, challenges such as sequencing errors, expensive processing and memory usage for assembly and sequencer specific errors remains major challenges in the field. This book aims to provide brief overviews the NGS field with special focus on the challenges facing the NGS field, including information on different experimental platforms, assembly algorithms and software tools, assembly error correction approaches and the correlated challenges.

The results obtained to date involving the use of in ~ methods to facilitate wide hybridization in plants are voluminous and impressive. The techniques of embryo culture, ovule culture, and in~ pollination and fertilization represent an extension of the normal sexual hybridization process. Successes recorded in obtaining hybrids stem largely from circumventing prezygotic or postzygotic hybridization barriers. Numerous recent successful hybridizations were possible because of the development of improved tissue and cell culture systems for crop plants and attention given to genotypes used in hybridization attempts. Interspecific and intergeneric hybridization utilizing the process of protoplast fusion will bypass the limits set by all sexual me'thods. In addition to combining complete genomes from two different species through protoplast fusion, this system affords unique opportunities for creating novel cytoplasmic combinations, transfer of individual chromosomes, transfer of cytoplasmic organelles, manipulation of male sterility, and for single gene transfer. Some caution must be noted with regard to the extent of hybridization possible between distantly related species. Although practically no limit exists to the physical fusion of protoplasts from widely divergent species, the restrictions imposed by somatic incompatibility have not been adequately addressed. Regeneration of plants from the protoplast or single heterokaryon level is still a major hurdle for many important crop species before somatic cell fusion can be exploited to produce interspecific and intergeneric hybrids. Identification and selection of hybrids is also a limitation to the efficient application of cell fusion methods.