DNA Repair and Human Disease highlights the molecular complexities of a few well-known human hereditary disorders that arise due to perturbations in the fidelity of diverse DNA repair machineries.

Standing on the Shoulders of Darwin and Mendel: Early Views of Inheritance explores early theories about the mechanisms of inheritance. Beginning with Charles Darwin's now rejected Gemmule hypothesis, the book documents the reception of Gregor Mendel's work on peas and follows the work of early 20th century scholars. The research of Francis Galton, a cousin of Darwin, and the friction it caused between these two are a part of longer story of the development of genetics and an understanding of how offspring inherit the characteristics of their parents. Bateson, Garrod, de Vries, Tschermak and others are all characters in a scientific story of discovery, acrimony, cooperation and revelation.

Biogeography is a vital component in many aspects of Primatology, including studies of evolution, speciation systematics, population genetics, and community ecology. Despite its integral position in studies of primate evolution and ecology and the broad representation of research on this subject in journals, field guides, and edited volumes on different regions of the world, Primate Biogeography is a subject that is rarely addressed as a discipline in its own right. This comprehensive source introduces the reader to Primate Biogeography as a discipline, highlights the many factors that may influence the distribution of primates, and reveals the wide range of approaches that are available to understanding the distribution of this order.

Mitochondrial DNA is one of the most closely explored genetic systems, because it can tell us so much about the human past. This book takes a unique perspective, presenting the disparate strands that must be tied together to exploit this system. From molecular biology to anthropology, statistics to ancient DNA, this first volume of three presents a comprehensive global picture and a critical appraisal of human mitochondrial DNA variation.

The second edition of this book adds eight new contributors to reflect a modern cutting edge approach to genomics. It contains the newest research results on genomic analysis and modeling using state-of-the-art methods from engineering, statistics, and genomics. These tools and models are then applied to real biological and clinical problems. The book 's original seventeen chapters are also updated to provide new initiatives and directions.

Technological advances over the last two decades have placed genetic research at the forefront of sport and exercise science. It provides potential answers to some of contemporary sport and exercise's defining issues and throws up some of the area's most challenging ethical questions, but to date, it has rested on a fragmented and disparate literature base. The Routledge Handbook of Sport and Exercise Systems Genetics constitutes the most authoritative and comprehensive reference in this critical area of study, consolidating knowledge and providing a framework for interpreting future research findings. Taking an approach which covers single gene variations, through genomics, epigenetics, and proteomics, to environmental and dietary influences on genetic mechanisms, the book is divided into seven sections. It examines state-of-the-art genetic methods, applies its approach to physical activity, exercise endurance, muscle strength, and sports performance, and discusses the ethical considerations associated with genetic research in sport and exercise. Made up of contributions from some of the world's leading sport and exercise scientists and including chapters on important topical issues such as gene doping, gender testing, predicting sport performance and injury risk, and using genetic information to inform physical activity and health debates, the handbook is a vital addition to the sport and exercise literature. It is an important reference for any upper-level student, researcher, or practitioner working in the genetics of sport and exercise or exercise physiology, and crucial reading for any social scientist interested in the ethics of sport.

MicroRNA Protocols provides diverse, novel, and useful descriptions of miRNAs in several species, including plants, worms, flies, fish, chicks, mice, and humans. These include some useful adaptations and applications that could be relevant to the wider research community who are already familiar with the identification of miRNAs. This volume will stimulate the reader to explore diverse ways to understanding the mechanism in which miRNAs facilitate the molecular aspects of the biomedical research.

Completion of the sequence of the human genome represents an unpar- leled achievement in the history of biology. The project has produced nearly complete, highly accurate, and comprehensive sequences of genomes of s- eral organisms including human, mouse, drosophila, and yeast. Furthermore, the development of high-throughput technologies has led to an explosion of projects to sequence the genomes of additional organisms including rat, chimp, dog, bee, chicken, and the list is expanding. The nearly completed draft of genomic sequences from numerous species has opened a new era of research in biology and in biomedical sciences. In keeping with the interdisciplinary nature of the new scientific era, the chapters in Gene Mapping, Discovery, and Expression: Methods and Protocols recapitulate the necessity of integration of experimental and computational tools for solving - portant research problems. The general underlying theme of this volume is DNA sequence-based technologies. At one level, the book highlights the importance of databases, genome-browsers, and web-based tools for data access and ana- sis. More specifically, sequencing projects routinely deposit their data in p- licly available databases including GenBank, at the National Center of Biotechnology (NCBI) in the United States; EMBL, maintained by the European Bioinformatics Institute; and DDBJ, the DNA Data Bank of Japan. Currently, several browsers offer facile access to numerous genomic DNA sequences for gene mapping and data retrieval.

The in situ hybridization and PCR technologies are now well-established molecular techniques for studying chromosomal aneuploidy and rearran- ments, gene localization and expression, and genomic organization. Over the last decade, we have seen increasing applications in these fields. By combining the high sensitivity of the PCR reaction and the cytological localization of target sequences, both PRINS and in situ PCR techniques have provided highly powerful complements to FISH for in situ cellular and molecular investigations. Both these approaches have several advantages in terms of sensitivity and specificity, owing to the use of primers and to the fast kinetics of annealing and elongation reactions in situ. In the first edition of PRINS and In Situ PCR Protocols edited by John R. Gosden, experts in the field presented in detail a variety of applications of PRINS and in situ PCR techniques, in a wide range of clinical conditions. Since the publication of this successful reference book, there have been s- nificant improvements in in situ detection techniques. This completely revised and updated second edition presents a compreh- sive selection of new procedures developed in the field of PRINS and in situ PCR technologies. The book has two sections. Part I, Basic Methodology, contains chapters that provide useful protocols for many variations of PRINS and in situ PCR, including a new fast multicolor PRINS method, and protocols for PRINS detection of unique sequences in situ.

Fluorescent nucleic acid probes, which use energy transfer, include such constructs as molecular beacons, molecular break lights, Scorpion primers, TaqMan probes, and others. These probes signal detection of their targets by changing either the intensity or the color of their fluorescence. Not surpr- ingly, these luminous, multicolored probes carry more flashy names than their counterparts in the other fields of molecular biology. In recent years, fluor- cent probes and assays, which make use of energy transfer, have multiplied at a high rate and have found numerous applications. However, in spite of this explosive growth in the field, there are no manuals summarizing different p- tocols and fluorescent probe designs. In view of this, the main objective of Fluorescent Energy Transfer Nucleic Acid Probes: Designs and Protocols is to provide such a collection. Oligonucleotides with one or several chromophore tags can form fluor- cent probes capable of energy transfer. Energy transport within the probe can occur via the resonance energy transfer mechanism, also called Foerster tra- fer, or by non-Foerster transfer mechanisms. Although the probes using Foerster transfer were developed and used first, the later non-Foerster-based probes, such as molecular beacons, now represent an attractive and widely used option. The term "fluorescent energy transfer probes" in the title of this book covers both Foerster-based fluorescence resonance energy transfer (FRET) probes and probes using non-FRET mechanisms. Energy transfer probes serve as molecule-size sensors, changing their fluorescence upon detection of various DNA reactions.

For several decades, Arabidopsis thaliana has been the organism of choice in the laboratories of many plant geneticists, physiologists, developmental biologists, and biochemists around the world. During this time, a huge amount of knowledge has been acquired on the biology of this plant species, which has resulted in the development of molecular tools that account for much more efficient research. The significance that Arabidopsis would attain in biological research may have been difficult to foresee in the 1980s, when its use in the laboratory started. In the meantime, it has become the model plant organism, much the same way as Drosophila, Caenorhabditis, or mouse have for animal systems. Today, it is difficult to envision research at the cutting edge of plant biology without the use of Arabidopsis. Since the first edition of Arabidopsis Protocols appeared, new developments have fostered an impressive advance in plant biology that prompted us to prepare Arabidopsis Protocols, Second Edition. Completion of the Arabidopsis genome sequence offered for the first time the opportunity to have in hand all of the genetic information required for studying plant function. In addition, the development of whole systems approaches that allow global analysis of gene expression and protein and metabolite dynamics has encouraged scientists to explore new scenarios that are extending the limits of our knowledge.

Fungal comparative genomics started in 2000 by the genome sequencing of several yeast species. Since then, over 30 fungal genome sequences have become available. This set represents a huge evolutionary divergence, but also contains closely related genomes. This volume describes how to use this set of genomes to trace events in genome evolution, to extract information about highly conserved and less conserved sequence elements, and to develop novel methods in genomics.

Developments over the past few years have revealed the remarkable versatility of RNA in any compartment of the cell, tasks that had been thought to be exclusively in the realm of proteins and even beyond. The chapters in this book written by leading investigators in the field provide insight into various promising avenues where RNA and nucleic acid derivatives including antisense RNAs, such as siRNA, miRNAs, amplification/selection (SELEX) generated aptamers as well as ribozymes are at the threshold of impacting medicine.

2 On the Early History of 5-mC In the fall of 1966, Norton D. Zinder of Rockefeller University in New York City presented the Harvey Lecture on "Phage RNA as Genetic Material" (Zinder 1966). Frankly,I do not remember manydetailsofhis talk. However, one ofhis concluding remarks, in which he thanked his teacher Rollin Hotchkiss, stuck in my mind andbecame an important leitmotiffor much of my own scienti?c career. Norton's relevant passages went somethinglikethis (approximate quotation): When we hope to have made a scienti?c discovery, we better spend much of our time immediately after this fortunate event in trying to counter our own beliefsand interpretations. Onlyafter a lot of painstaking scrutiny involving many control experiments when our discoveryhas stood the test of careful consideration, can one hope that our colleagues will beabletocon?rm the new ?ndings. Of course, it is a major task of the scienti?c community to respectfully meet supposedly novel announ- ments withdisbelief and skepticism and in turn commence the process of disproving these concepts. Consistent con?rmations, with plenty of modi?cations to be sure, will providethe encouragement necessary to continue and to improve the initial observations and conclusions. Apparently, the scienti?c tradition re?ected in this overall cautious attitude had emanatedfrom the laboratory of Oswald Avery that Rollin Hotchkiss had been trained in. This certainly most important of scienti?ccredos seems tocontradict intuitively held notions and might bethought to run counter to general practice.

Understanding of the molecular basis of DNA damage and its repair has increased dramatically in recent years and there is now a substantial knowledge concerning the products that arise from free-radical attack on DNA. Free-radical DNA damage may lead to mutations, cancer and cell death. There are various free radical sources, notably ionizing radiation or oxidative stress. In the radiotherapy of cancer and in the case of some anticancer drugs, use is made of cell killing by excessive DNA damage.nbsp; The mechanisms that lead to these products have been studied on the model level and with small double-stranded DNA fragments and are discussed in some detail. The basics of the underlying free-radical chemistry are dealt with in separate chapters. Understanding of the molecular basis of DNA damage and its repair has increased dramatically in recent years, and substantial knowledge now exists concerning the products arising from free-radical attack on DNA. Free-radical DNA damage may lead to mutations, cancer, and cell death. Free radicals have various sources, notably ionizing radiation and oxidative stress. In radiotherapy for cancer and with some anticancer drugs, use is made of cell death by excessive DNA damage. The mechanisms leading to products of free-radical attack which have been studied in models and with small double-stranded DNA fragments are discussed in detail, and the basics of the underlying free-radical chemistry are dealt with in separate chapters.

Population and evolutionary genetics have been quickly developing ?elds of biological research over the past decades. This book compiles our current understanding of genetic processes in natural populations. In addition, the book provides the author's original ideas and concepts based on the data obtained by himself and his close coworkers. The author introduces his pioneering concept of population genetic stability, and much of thebook is concerned with the factors and conditions of such stability. Why does genetic stability matter so much? Altukhov argues that the sustainable use of natural resources, including genetic resources of popu- tions, critically depends on the maintenance of their stability. The preser- tion of well-adapted genetic characteristics from one generation to the next is essential for this stability. Traditionally, population genetics has been - cusedonevolution andthe role of evolutionary factorsinshapinggenetic structures of populations. While the idea of a population as a dynamic unit of evolution has been widely accepted, the signi?cance of genetic stability and its implications for the long-term survival of populations and species have not been fully appreciated.

The last 15 years in development of biology were marked with accumulation of unprecedentedly huge arrays of experimental data. The information was amassed with exclusively high rates due to the advent of highly efficient experimental technologies that provided for high throughput genomic sequencing; of functional genomics technologies allowing investigation of expression dynamics of large groups of genes using expression DNA chips; of proteomics methods giving the possibility to analyze protein compositions of cells, tissues, and organs, assess the dynamics of the cell proteome, and reconstruct the networks of protein-protein interactions; and of metabolomics, in particular, high resolution mass spectrometry study of cell metabolites, and distribution of metabolic fluxes in the cells with a concurrent investigation of the dynamics of thousands metabolites in an individual cell. Analysis, comprehension, and use of the tremendous volumes of experimental data reflecting the intricate processes underlying the functioning of molecular genetic systems are unfeasible in principle without the systems approach and involvement of the state-of-the-art information and computer technologies and efficient mathematical methods for data analysis and simulation of biological systems and processes. The need in solving these problems initiated the birth of a new science- postgenomic bioinformatics or systems biology in silico.

Genome Exploitation: Data Mining the Genome is developed from the 23rd Stadler Genetic Symposium. This volume discusses and illustrates how scientists are going to characterize and make use of the massive amount of information being accumulated about the plant and animal genomes. Genome Exploitation: Data Mining the Genome is a state-of-the-art picture on mining the Genome databases. This is one of the few times that researchers in both plants and animals will be working together to create a seminal data resource.

This important volume provides a basic understanding of the different forms of intellectual property rights in agricultural science. It provides an abundance of information on the use of IP laws in agriculture and allied subjects and their proper implementation in real-life practice. The chapter authors discuss different kinds of IP laws and their current status in developed as well as developing countries throughout the world. The protection of biological resources is crucial for food security for future generations. Biological resources are the source of several important genes. Researchers are interested in the development of plant varieties that can increase crop production, withstand dramatic climatic changes, etc. Protecting intellectual property rights in plant varieties and the rights of farmers and others are discussed in this volume. It also looks at new trends and developments in the field involving new IP strategies and the application of IP laws in agriculture and biotechnology and in the management of plant genetic resources.

Since the first edition of this book dedicated to differential display (DD) technology was published in 1997, we have witnessed an explosive interest in studying differential gene expression. The gene-hunting euphoria was initially powered by the invention of DD, which was gradually overtaken by DNA microarray technology in recent years. Then why is there still the need for second edition of this DD book? First of all, DD still enjoys a substantial lead over DNA microarrays in the ISI citation data (see Table 1), despite the h- dreds of millions of dollars spent each year on arrays. This may come as a surprise to many, but to us it implies that many of the DNA microarray studies went unpublished owing to their unfulfilled promises (1). Second, unlike DNA microarrays, DD is an "open"-ended gene discovery method that does not depend on prior genome sequence information of the organism being studied. As such, DD is applicable to the study of all living organisms-from bacteria, fungi, insects, fish, plants, to mammals-even when their genomes are not sequenced. Second, DD is more accessible technically and financially to most cost-conscious "cottage-industry" academic laboratories. So clearly DD still has its unique place in the modern molecular biological toolbox for gene expression analysis.

This book provides the first and only comprehensive description and detailed summary of the genetics, structure, function, mechanisms of action, evolution and engineering of homing endonucleases and inteins. These two unique protein superfamilies, which are tied together through their frequent fusion and coevolution, have generated considerable excitement for their fundamental, structural, and functional properties, their evolution as parasitic elements, and their widespread applications as gene targeting agents and as instruments for the generation of modified proteins and novel protein combinations.

The first edition of this book, published in 1999 and called DNA Repair Protocols: Eukaryotic Systems, brought together laboratory-based methods for studying DNA damage and repair in diverse eukaryotes: namely, two kinds of yeast, a nematode, a fruit fly, a toad, three different plants, and human and murine cells. This second edition of DNA Repair Protocols covers mammalian cells only and hence its new subtitle, Mammalian Systems. There are two reasons for this fresh emphasis, both of them pragmatic: to cater to the interests of what is now a largely mammalocentric DNA repair field, and to expedite editing and prod- tion of this volume. Although DNA Repair Protocols: Mammalian Systems is a smaller book than its predecessor, it actually contains a greater variety of methods. Fourteen of the book's thirty-two chapters are entirely new and areas of redundancy present in the first edition have been eliminated here (for example, now just two chapters describe assays for nucleotide excision repair [NER], rather than seven). All eighteen returning chapters have been revised, many of them ext- sively. In order to maintain a coherent arrangement of topics, the four-part p- titioning seen in the first edition was dispensed with and chapters concerned with ionizing radiation damage and DNA strand breakage and repair were re- cated to near the front of the book. Finally, an abstract now heads each chapter.

Advances in computers and biotechnology have had a profound impact on biomedical research, and as a result complex data sets can now be generated to address extremely complex biological questions. Correspondingly, advances in the statistical methods necessary to analyze such data are following closely behind the advances in data generation methods. The statistical methods required by bioinformatics present many new and difficult problems for the research community.

This book provides an introduction to some of these new methods. The main biological topics treated include sequence analysis, BLAST, microarray analysis, gene finding, and the analysis of evolutionary processes. The main statistical techniques covered include hypothesis testing and estimation, Poisson processes, Markov models and Hidden Markov models, and multiple testing methods.

The second edition features new chapters on microarray analysis and on statistical inference, including a discussion of ANOVA, and discussions of the statistical theory of motifs and methods based on the hypergeometric distribution. Much material has been clarified and reorganized.

The book is written so as to appeal to biologists and computer scientists who wish to know more about the statistical methods of the field, as well as to trained statisticians who wish to become involved with bioinformatics. The earlier chapters introduce the concepts of probability and statistics at an elementary level, but with an emphasis on material relevant to later chapters and often not covered in standard introductory texts. Later chapters should be immediately accessible to the trained statistician. Sufficient mathematical background consistsof introductory courses in calculus and linear algebra. The basic biological concepts that are used are explained, or can be understood from the context, and standard mathematical concepts are summarized in an Appendix. Problems are provided at the end of each chapter allowing the reader to develop aspects of the theory outlined in the main text.

Warren J. Ewens holds the Christopher H. Brown Distinguished Professorship at the University of Pennsylvania. He is the author of two books, Population Genetics and Mathematical Population Genetics. He is a senior editor of Annals of Human Genetics and has served on the editorial boards of Theoretical Population Biology, GENETICS, Proceedings of the Royal Society B and SIAM Journal in Mathematical Biology. He is a fellow of the Royal Society and the Australian Academy of Science.

Gregory R. Grant is a senior bioinformatics researcher in the University of Pennsylvania Computational Biology and Informatics Laboratory. He obtained his Ph.D. in number theory from the University of Maryland in 1995 and his Masters in Computer Science from the University of Pennsylvania in 1999.

Comments on the First Edition. "This book would be an ideal text for a postgraduate coursea ][and] is equally well suited to individual studya ]. I would recommend the book highly" (Biometrics). "Ewens and Grant have given us a very welcome introduction to what is behind those pretty [graphical user] interfaces" (Naturwissenschaften.). "The authors do an excellent job of presenting the essence of the material without getting bogged down in mathematical details" (Journal. American Staistical. Association). "The authors have restructured classical materialto a great extent and the new organization of the different topics is one of the outstanding services of the book" (Metrika).

This book defines the field of systems biology, one of the newest and fastest developing fields in science today. It discusses the most effective experimental and computational strategies and highlights new and emerging applications. Cell biologists and other readers will discover many benefits for industry, such as the new network-based drug-target design validation. The authors also thoroughly explore testing.

The complexity of genome evolution poses many exciting challenges to devel- ers of mathematical models and algorithms, who have recourse to a spectrum of algorithmic, statisticalandmathematicaltechniques, rangingfromexact, heur- tic, ?xed-parameter and approximation algorithms for problems based on par- mony models to Monte Carlo Markov Chain algorithms for Bayesian analysis of problems based on probabilistic models. The annual RECOMB Satellite Workshop on Comparative Genomics (RECOMB ComparativeGenomics)is aforumonallaspects andcomponents of this ?eld, rangingfromnew quantitativediscoveriesabout genomestructureand process to theorems on the complexity of computational problems inspired by genome comparison. The informal steering committee for this meeting consists of David Sanko?, Jens Lagergren and Aoife McLysaght. Thisvolumecontainsthepaperspresentedatthe3rdRECOMBComparative Genomicsmeeting, whichwasheldinDublin, Ireland, onSeptember18-20,2005. The ?rst two meetings of this series were held in Minneapolis, USA (2003) and Bertinoro, Italy (2004). This year, 21 papers were submitted, of which the Program Committee - lected 14 for presentation at the meeting and inclusion in this proceedings.Each submission was refereed by at least three members of the Program Committee. Aftercompletionofthereferees'reports, anextensiveWeb-baseddiscussiontook placeformakingdecisions.TheRECOMBComparativeGenomics2005Program Committee consisted of the following 27 members: Vineet Bafna, Anne Be- eron, Mathieu Blanchette, Avril Coghlan, Dannie Durand, Nadia El-Mabrouk, Niklas Eriksen, Aaron Halpern, Rose Hoberman, Daniel Huson, Jens Lagergren, Giuseppe Lancia, Emmanuelle Lerat, Aoife McLysaght, Istvan Miklos, Bernard Moret, PavelPevzner, Ben Raphael, Marie-FranceSagot, David Sanko?, Cathal Seoighe, Beth Shapiro, Igor Sharakhov, Mike Steel, Jens Stoye, Glenn Tesler and Louxin Zhan. We would like to thank the ProgramCommittee members for their dedication and hard wo