Human Interphase Chromosomes : Biomedical Aspects

This second edition focuses on the study of human interphase chromosomes and its relation to health and disease. Orchestrated organization and behavior of the human genome in interphase nuclei at chromosomal level has been repeatedly shown to play a significant role in almost all basic biological processes involved in the processing and inheritance of genetic information within and between species. Accordingly, post-genomic bioscience appeals to basic and applied studies of interphase nuclei genetics and genomics with special attention to interphase chromosome behavior in health and disease. Additionally, elucidating the role of interphase chromosome behavior during development, chromosome/DNA replication, DNA reparation opens new horizons for basic and applied bioscience Studies of interphase nuclei have an appreciable impact on different areas of biomedical sciences such as cell biology, neurobiology, cancer research, developmental biology, epigenetics, cytogenetics, and medical genetics, as a whole. Moreover, development of innovative and emergent technologies to analyze interphase nuclei are closely associated with application of these techniques in diagnostic and research practices to solve reproductive problems (including infertility and spontaneous abortions), to investigate congenital malformations (including those produced by aneuploidy and other chromosome abnormalities); genetic diseases (including cardiac, immune, neurological and psychiatric diseases), and cancer. This second edition serves as a source of updated valuable information and promising ideas for a wide audience of professionals in biomedicine including researchers, scientists, and healthcare professionals in human genetics, cytogenetics, and developmental biology. Preface Contents Contributors Chapter 1: Human Interphase Cytogenomics References Chapter 2: Eukaryotic Genome in Three Dimensions Introduction Hierarchical Model of DNA Packaging in Chromatin Functional Domains of the Eukaryotic Genome TAD Assembly and Insulation 3D Organization of the Genome in the Context of Nuclear Compartmentalization References Chapter 3: Analysis of Cell and Nucleus Genome by Next-Generation Sequencing Mosaic Variants During Lifetime Introduction Mosaic Variants in Development and Aging Application of Mosaic Variants for Cell Lineage Tracing Lineage Tracing Using the Genetic Tools Lineage Tracing Using Mosaic Variants Discovering Mosaic Variants from Next-Generation Sequencing Whole-Genome Sequencing Capture and Sequencing Amplicon-Seq and Enrichment for L1 Elements Single-Cell Whole-Genome Amplification Single-Cell Clonal Expansion Other Strategies Analytics of Variant Discovery Concept of Variant Discovery Leveraging Analytics from Cancer Genomics Detecting High-Frequency Variants Resolving WGA Errors References Chapter 4: Interphase Chromosomes of the Human Brain Introduction Interphase Chromosomes and Brain Ontogeny: Natural Chromosomal Variations Interphase Chromosomes in the Diseased Brain Interphase Chromosomes and Genome Organization in the Human Brain Conclusion References Chapter 5: Senescence and the Genome The Senescence Phenotype Organisation of Chromatin and the Epigenome During Ageing Nuclear Lamina and Nucleoskeleton Nucleolus Centromeres and Telomeres Chromosomes and Chromosome Territories Advances in Technologies Summary References Chapter 6: Unclassified Chromosome Abnormalities and Genome Behavior in Interphase Historical Perspective Examples of Unclassified Chromosome/Nuclear Abnormalities Free Chromatin Defective Mitotic Figures or DMFs Chromosome Fragmentations or C-Frag Unit Fibers Sticky Chromosomes Micronuclei Clusters Fusion/Fission/Budding/Bursting/Entosis Chaotic Genome The Evolutionary Mechanism of Stochastic Chromosome/Nuclear Alterations The General Causative Factor of Genome Alterations The Evolutionary Mechanism of Genome Alterations Future Perspectives References Chapter 7: Twenty-First Century FISH: Focus on Interphase Chromosomes Introduction I-FISH ICS-MCB Immuno-FISH QFISH Molecular Diagnosis Conclusion References Chapter 8: Chromosome Architecture Studied by High-Resolution FISH Banding in Three-Dimensionally Preserved Human Interphase Nuclei Introduction S-FISH, the Method S-FISH: Which DNA Probes May Be Applied? Applications of S-FISH Human Sperm Different Tissues with Additional Chromosomal Fragments Different Female Tissues and the Position of the X Chromosome Leukemia and the Positions of Chromosomes 8 and 21 S-FISH, Conclusions, and Perspectives References Chapter 9: Chromosome-Centric Look at the Genome Introduction: Where Have All the Chromosomes Gone? It’s All in the Nucleus, Interphase Nucleus Genomic Variations: Mind the Chromosome Cytogeneticists: The Superheroes of Translational Biomedicine Conclusion: Learn, Learn, and Learn References Index