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Cells of the soma, especially of the brain, generate genomic variations with region-specific differences in frequency, which leads to somatic mosaicism. This postzygotic phenomenon is, among others, a consequence of DNA damage or defective repair and may contribute to neurogenetic disorders. The present work provides two innovative approaches to investigate the role of retrotransposons and DNA double-strand breaks (DSBs) in the formation of somatic mosaicism in the human brain. Retrotransposons, including SVA and LINE-1, are mobile genetic elements that replicate in the genome by the "copy-and-paste" mechanism. Recent NGS-based studies demonstrated that the retrotransposon machinery is active in the human brain. This raises the question of whether SVA and LINE-1, respectively their presence at orthologous loci, can be used to track somatic differences in brain regions. For this purpose, a subtractive kinetic enrichment technique called Representational Difference Analysis (RDA) coupled with NGS is established. In addition, chromosomal DSB hotspots and their regional differences in the brain will be investigated. For one type of DSB repair, SINE/LINE information is known to be used in the context of non-homologous end-joining, i.e. typical signatures of SINE/LINE integrations at DSB sites are generated. To describe the 'breakome', a DSB labeling system based on Breaks Labeling In Situ and Sequencing (BLISS) is implemented. The RDA provides evidence for somatic mosaicism caused by differential retrotransposition of LINE-1 and SVAs in the human brain. In this context, SVAs as 'presence/absence' markers can reflect the development of telencephalon and metencephalon. De novo SVA and LINE-1 insertions have chromosome-wide rates and preferential integration in GC- and TE-rich regions and genes that tend to be involved in neural functions. The 'breakome' results show DSB hotspots occurring across the brain or in a brain region-specific manner. As a result, several known and novel recurrent DSB cluster (RDC) associated genes are detectable and can be linked to neurological diseases. Moreover, (epi-) genetic predictors of DSB formation can be identified, including DNA-binding proteins that play a role in DSB repair. Interestingly, retrotransposons and DSBs frequently occur in close proximity to each other, suggesting a possible involvement of mobile DNA in the induction or repair of DSBs. In summary, the methods presented in this work can be applied in various research areas, such as cell lineage tracing experiments or the analysis of potentially pathogenic DNA damage in the context of neurological or tumor diseases.
The fourth edition of this well-known text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. This new edition continues to cover both basic and up-to-date material on normal and defective chromosomes, yet is particularly strengthened by the complete revision of the material on the molecular genetics of chromosomes and chromosomal defects. The mapping and molecular analysis of chromosomes is one of the most exciting and active areas of modern biomedical research, and this book will be invaluable to scientists, students, technicians and physicians with an interest in the function and dysfunction of chromosomes.
This book highlights selected current data and its relevance in the human health care system, offering a fundamental primer on genetics and human health. With the advent of new high-throughput technologies (for the whole genome including exome sequencing), the conventional focus on genetics and individual genes is now shifting toward the analysis of complex genes, gene-gene interactions and the association between genes and environment, including epigenetics. The rapidly changing scientific research landscape, with the ever-growing influx of data on one hand and emergence of newer and more complicated diseases on the other, has created a dilemma for researchers and caregivers, who are still hopeful that advances in genetics and genomics will provide avenues for the understanding, prevention and possible cure of human diseases. The book focuses on the interactions between genes and proteins at both the transcriptome and proteome levels, which in turn affect the human genome and health. Additionally, it covers the domain that must be explored in order to understand the gene-gene and protein-protein interactions that contribute to human health. The book offers a valuable guide for all students and researchers working in the area of molecular genetics and genomics.
The Oxford Handbook of Developmental Behavioral Neuroscience is a seminal reference work in the burgeoning field of developmental behavioral neuroscience, which has emerged in recent years as an important sister discipline to developmental psychobiology. This handbook, part of the Oxford Library of Neuroscience, provides an introduction to recent advances in research at the intersection of developmental science and behavioral neuroscience, while emphasizing the central research perspectives of developmental psychobiology. Contributors to the Oxford Handbook of Developmental Behavioral Neuroscience are drawn from a variety of fields, including developmental psychobiology, neuroscience, comparative psychology, and evolutionary biology, demonstrating the opportunities to advance our understanding of behavioral and neural development through enhanced interactions among parallel disciplines.In a field ripe for collaboration and integration, the Oxford Handbook of Developmental Behavioral Neuroscience provides an unprecedented overview of conceptual and methodological issues pertaining to comparative and developmental neuroscience that can serve as a roadmap for researchers and a textbook for educators. Its broad reach will spur new insights and compel new collaborations in this rapidly growing field.
Written by experts from London’s renowned Royal Free Hospital, Textbook of Plastic and Reconstructive Surgery offers a comprehensive overview of the vast topic of reconstructive plastic surgery and its various subspecialties for introductory plastic surgery and surgical science courses. The book comprises five sections covering the fundamental principles of plastic surgery, cancer, burns and trauma, paediatric plastic surgery and aesthetic surgery, and covers the breadth of knowledge that students need to further their career in this exciting field. Additional coverage of areas in which reconstructive surgery techniques are called upon includes abdominal wall reconstruction, ear reconstruction and genital reconstruction. A chapter on aesthetic surgery includes facial aesthetic surgery and blepharoplasty, aesthetic breast surgery, body contouring and the evolution of hair transplantation.The broad scope of this volume and attention to often neglected specialisms such as military plastic surgery make this a unique contribution to the field. Heavily illustrated throughout, Textbook of Plastic and Reconstructive Surgery is essential reading for anyone interested in furthering their knowledge of this exciting field. This book was produced as part of JISC's Institution as e-Textbook Publisher project. Find out more at https://www.jisc.ac.uk/rd/projects/institution-as-e-textbook-publisher
Chromosomes Today, Volume 13 includes the plenary lectures presented at the 13th International Chromosome Conference, covering the most recent advances in the studies on chromosomes. The contributions in this volume were presented by some of the world's leaders in cytogenetic and molecular research and outline the present status of knowledge on the composition, structure, function and evolution of chromosomes, including, among others, the advancement of the human genome project. The use of cytogenetic studies has greatly increased in the last few years, resulting in a progressive improvement in the available methods that has consequently allowed a more detailed analysis of the molecular organization of eukaryotic chromosomes and a precise in situ localisation of specific gene sequences. This volume of Chromosomes Today provides up-to-date information regarding the topics at the forefront of chromosome research: genetic regulation, imprinting, DNA duplication, meiotic pairing, and the regulation of the...
This volume describes the latest findings on transcriptional and translational regulation of stem cells. Both transcriptional activators and repressors have been shown to be crucial for the maintenance of the stem cell state. A key element of stem cell maintenance is repression of differentiation factors or developmental genes – achieved transcriptionally, epigenetically by the Polycomb complex, and post-transcriptionally by RNA-binding proteins and microRNAs. This volume takes two approaches to this topic – (1) illustrating the general principles outlined above through a series of different stem cell examples – embryonic, iPS and adult stem cells, and (2) describing several molecular families that have been shown to have roles in regulation of multiple stem cell populations.
Marking the change in focus of tree genomics from single species to comparative approaches, this book covers biological, genomic, and evolutionary aspects of angiosperm trees that provide information and perspectives to support researchers broadening the focus of their research. The diversity of angiosperm trees in morphology, anatomy, physiology and biochemistry has been described and cataloged by various scientific disciplines, but the molecular, genetic, and evolutionary mechanisms underlying this diversity have only recently been explored. Excitingly, advances in genomic and sequencing technologies are ushering a new era of research broadly termed comparative genomics, which simultaneously exploits and describes the evolutionary origins and genetic regulation of traits of interest. Within tree genomics, this research is already underway, as the number of complete genome sequences available for angiosperm trees is increasing at an impressive pace and the number of species for which RNAseq data are available is rapidly expanding. Because they are extensively covered by other literature and are rapidly changing, technical and computational approaches—such as the latest sequencing technologies—are not a main focus of this book. Instead, this comprehensive volume provides a valuable, broader view of tree genomics whose relevance will outlive the particulars of current-day technical approaches. The first section of the book discusses background on the evolution and diversification of angiosperm trees, as well as offers description of the salient features and diversity of the unique physiology and wood anatomy of angiosperm trees. The second section explores the two most advanced model angiosperm tree species (poplars and eucalypts) as well as species that are soon to emerge as new models. The third section describes the structural features and evolutionary histories of angiosperm tree genomes, followed by a fourth section focusing on the genomics of traits of biological, ecological, and economic interest. In summary, this book is a timely and well-referenced foundational resource for the forest tree community looking to embrace comparative approaches for the study of angiosperm trees.
A renaissance of virus research is taking centre stage in biology. Empirical data from the last decade indicate the important roles of viruses, both in the evolution of all life and as symbionts of host organisms. There is increasing evidence that all cellular life is colonized by exogenous and/or endogenous viruses in a non-lytic but persistent lifestyle. Viruses and viral parts form the most numerous genetic matter on this planet.