This volume reviews the latest research on the functional implications of nuclear, chromosomal and genomic organization and architecture on cell and organismal biology, and development and progression of diseases. The architecture of the cell nucleus and non-random arrangement of chromosomes, genes, and the non-membranous nuclear bodies in the three-dimensional (3D) space alters in response to the environmental, mechanical, chemical, and temporal cues. The changes in the nuclear, chromosomal, or genomic compaction and configuration modify the gene expression program and induce or inhibit epigenetic modifications. The intrinsically programmed rearrangements of the nuclear architecture are necessary for cell differentiation, the establishment of cell fate during development and maturation of tissues and organs including the immune, muscle, and nervous systems. The non-programmed changes in the nuclear architecture can lead to fragmentation of the nucleus and instability of the genome and thus cause cancer. Microbial and viral infections can lead to a clustering of centromeres, telomeres and ribosomal DNA and alter the properties of the nuclear membrane, allowing large immobile macromolecules to enter the nucleus. Recent advances in next-generation sequencing technologies combined with nucleus/chromosome conformation capture, super-resolution imaging, chromosomal contact maps methods, integrative modeling, and genetic approaches, are uncovering novel features and importance of nuclear, chromosomal and genomic architecture. This book is an interesting read for cell biologists, researchers studying the structure and function of chromosomes, and anyone else who wants to get an overview of the field of nuclear, chromosomal and genomic architecture.

This volume explores protocols for identifying mutant mice and characterizing parts of their anatomical, functional, cellular, and molecular phenotypes. The chapters in this book look at anatomical and functional phenotyping using quantitative imaging, isolation of specific embryonic cell types for cell culture, analysis of gene expression, and how to define chromatin structure. 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 authoritative, Mouse Embryogenesis: Methods and Protocols is a valuable resource for experimentalists interested in discovering new aspects of embryogenesis control, organ function, and the origin of disease.

This novel text provides a concise synthesis of how the interactions between mitochondrial and nuclear genes have played a major role in shaping the ecology and evolution of eukaryotes. The foundation for this new focus on mitonuclear interactions originated from research in biochemistry and cell biology laboratories, although the broader ecological and evolutionary implications have yet to be fully explored. The imperative for mitonuclear coadaptation is proposed to be a major selective force in the evolution of sexual reproduction and two mating types in eukaryotes, in the formation of species, in the evolution of ornaments and sexual selection, in the process of adaptation, and in the evolution of senescence. The book highlights the importance of mitonuclear coadaptation to the evolution of complex life and champions mitonuclear ecology as an important subdiscipline in ecology and evolution.

This topic has been realized, and is in collaboration with Dr. Constanze Pentzold, Post Doctoral Researcher at the Institute of Human Genetics, University Hospital Jena.

Genome Chaos: Rethinking Genetics, Evolution, and Molecular Medicine transports readers from Mendelian Genetics to 4D-genomics, building a case for genes and genomes as distinct biological entities, and positing that the genome, rather than individual genes, defines system inheritance and represents a clear unit of selection for macro-evolution. In authoring this thought-provoking text, Dr. Heng invigorates fresh discussions in genome theory and helps readers reevaluate their current understanding of human genetics, evolution, and new pathways for advancing molecular and precision medicine. - Bridges basic research and clinical application and provides a foundation for re-examining the results of large-scale omics studies and advancing molecular medicine - Gathers the most pressing questions in genomic and cytogenomic research - Offers alternative explanations to timely puzzles in the field - Contains eight evidence-based chapters that discuss 4d-genomics, genes and genomes as distinct biological entities, genome chaos and macro-cellular evolution, evolutionary cytogenetics and cancer, chromosomal coding and fuzzy inheritance, and more

Genomic and Personalized Medicine, Second Edition — winner of a 2013 Highly Commended BMA Medical Book Award for Medicine — is a major discussion of the structure, history, and applications of the field, as it emerges from the campus and lab into clinical action. As with the first edition, leading experts review the development of the new science, the current opportunities for genome-based analysis in healthcare, and the potential of genomic medicine in future healthcare. The inclusion of the latest information on diagnostic testing, population screening, disease susceptability, and pharmacogenomics makes this work an ideal companion for the many stakeholders of genomic and personalized medicine. With advancing knowledge of the genome across and outside protein-coding regions of DNA, new comprehension of genomic variation and frequencies across populations, the elucidation of advanced strategic approaches to genomic study, and above all in the elaboration of next-generation sequencing, genomic medicine has begun to achieve the much-vaunted transformative health outcomes of the Human Genome Project, almost a decade after its official completion in April 2003. - Highly Commended 2013 BMA Medical Book Award for Medicine - More than 100 chapters, from leading researchers, review the many impacts of genomic discoveries in clinical action, including 63 chapters new to this edition - Discusses state-of-the-art genome technologies, including population screening, novel diagnostics, and gene-based therapeutics - Wide and inclusive discussion encompasses the formidable ethical, legal, regulatory and social challenges related to the evolving practice of genomic medicine - Clearly and beautifully illustrated with 280 color figures, and many thousands of references for further reading and deeper analysis

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.

Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

This volume details a valuable collection of protocols and reviews, such as emerging experimental and theoretical approaches. These approaches have resulted in a substantial improvement in the understanding of chromosome architecture. Chromosome Architecture: Methods and Protocols guides readers through cutting-edge interdisciplinary methods which allow for an understanding of architecture of chromosomes with exceptionally enhanced resolution, both in terms of space and time. 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, Chromosome Architecture: Methods and Protocols aims to ensure successful results in the further study of this vital field.

Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book's second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. - Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies - Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease - Features chapter contributions from international leaders in the field