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.
This title will focus on the study of human interphase chromosomes and its relation to health and disease. Orchestrated organization and human genome function in interphase nuclei at the chromosomal level have been repeatedly shown to play a significant role in a variety of basic biological processes involved in realization and inheritance of genetic information within and between species. Current biomedical sciences of post-genomic era refocus basic and applied studies of interphase nuclei genetics and genomics with special attention to interphase chromosome behavior in health and disease. Additionally, related processes are a target of studies elucidating the role of interphase chromosome behavior during development, chromosome/DNA replication, DNA reparation etc. 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 clinical, diagnostic and research practice 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 title will serve as a source of new 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.
Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. The field has evolved to embrace molecular cytogenetic changes, now termed cytogenomics. Cytogeneticists utilize an assortment of procedures to investigate the full complement of chromosomes and/or a targeted region within a specific chromosome in metaphase or interphase. Tools include routine analysis of G-banded chromosomes, specialized stains that address specific chromosomal structures, and molecular probes, such as fluorescence in situ hybridization (FISH) and chromosome microarray analysis, which employ a variety of methods to highlight a region as small as a single, specific genetic sequence under investigation. The AGT Cytogenetics Laboratory Manual, Fourth Edition offers a comprehensive description of the diagnostic tests offered by the clinical laboratory and explains the science behind them. One of the most valuable assets is its rich compilation of laboratory-tested protocols currently being used in leading laboratories, along with practical advice for nearly every area of interest to cytogeneticists. In addition to covering essential topics that have been the backbone of cytogenetics for over 60 years, such as the basic components of a cell, use of a microscope, human tissue processing for cytogenetic analysis (prenatal, constitutional, and neoplastic), laboratory safety, and the mechanisms behind chromosome rearrangement and aneuploidy, this edition introduces new and expanded chapters by experts in the field. Some of these new topics include a unique collection of chromosome heteromorphisms; clinical examples of genomic imprinting; an example-driven overview of chromosomal microarray; mathematics specifically geared for the cytogeneticist; usage of ISCN’s cytogenetic language to describe chromosome changes; tips for laboratory management; examples of laboratory information systems; a collection of internet and library resources; and a special chapter on animal chromosomes for the research and zoo cytogeneticist. The range of topics is thus broad yet comprehensive, offering the student a resource that teaches the procedures performed in the cytogenetics laboratory environment, and the laboratory professional with a peer-reviewed reference that explores the basis of each of these procedures. This makes it a useful resource for researchers, clinicians, and lab professionals, as well as students in a university or medical school setting.
These days, hardly a week goes by in the media, without mention of a remarkable advancement in the field of genetics. Cytogenetics is a branch of genetics that is concerned with the study of the structure and function of the chromosomes and their role in heredity. Every individual inherits a pair of chromosomes from each of his parents. Each cell in our body has 46 chromosomes each. Chromosomes carry genetic information in the form of genes. The genes within the chromosomes have a powerful impact on our health, either directly through chromosomal or single gene disorders or by influencing our susceptibility to disease. Cytogenetic study is performed in order to diagnose certain genetic disorders such as; congenital birth defects, mental retardation, growth and developmental delay, defects of sexual development, ambiguous genitalia, congenital defects, abnormal facial features, infertility, multiple miscarriages, amenorrhea, autism, malignancies and hematological disorders, early embryonic death, and gene mutations among others. These can be identified by chromosomal analysis and molecular cytogenetic techniques such as Fluorescent in Situ Hybridization (FISH) and Microarray, which have enormously expanded in recent years.
This book is a compilation of various chapters contributed by a group of leading researchers from different countries and covering up to date information based on published reports and personal experience of authors in the field of cytogenetics. Beginning with the introduction of chromosome, the subsequent chapters on organization of genetic material, karyotype evolution, structural and numerical variations in chromosomes, B-chromosomes and chromosomal aberrations provide an in-depth knowledge and easy understanding of the subject matter. A special feature of the book is the inclusion of a series of chapters on various types of chromosomal aberrations and their impact on breeding behaviour and crop improvement. The possible mechanism, their consequences and role in genetic analysis has been emphasized in these chapters. A few chapters have also been dedicated on various techniques routinely used in the laboratory by students and researchers. Each chapter ends with an extensive bibliography so that the students and researchers may find it relevant to consult more literature on the subject than a book of this size can offer. The book is intended to fulfill the needs of undergraduate and post graduate students of botany, zoology and agriculture besides, teachers and researchers engaged in the field of genetics, cytogenetics, and molecular genetics. In general the readers will find each chapter of the book informative and easy to understand.
Molecular Structure of Human Chromosomes is an authoritative guide to genetics, focusing on human genome. This reference compiles contributions covering available knowledge on human genome structure and organization, which the previous researches fail to encompass. This text provides a comprehensive discussion of cytogenetic techniques, emphasizing their application to human genome studies and examinations. The book is divided into nine chapters. It explains the molecular organization and function of the human genome and the DNA sequences in man. It also discusses the localization of human gene by in situ hybridization and the approaches to gene mapping. The book describes the structure of the chromosomes and the trends in chromosome techniques; banding and polymorphism; and repetitive DNA and primate evolution. Various practitioners in genetics and biology will find this book a good reference. Students and novices in these fields will also find this book an excellent guide.
To approach the still largely unknown sequential and three-dimensional organization of the human cell nucleus, the structural-, scaling- and dynamic properties of interphase chromosomes and cell nuclei were simulated on the 30 nm chromatin fiber level with Monte Carlo, Brownian Dynamics and parallel computing methods. Differences between used models explain various experimental conditions, favouring a Multi-Loop-Subcompartment model with 63-126 kbp loops aggregated to possibly rosettes connected by 63-126 kbp linkers, and predict correctly the transport of molecules by moderately obstructed diffusion excluding the Interchromosomal Domain hypothesis. Correlation analyses of completely sequenced Archaea, Bacteria and Eucaria chromosomes revealed fine-structured positive long-range correlations due to codon, nucleosomal or block organization of the genomes, allowing classification and tree construction. By construction and expression of fusionproteins from the histones H1, H2A, H2B, H3, H4 and mH2A1.2 with the autofluorescent proteins CFP, GFP, YFP, DsRed-1 and DsRed-2 the chromatin morphology could be investigated in vivo during interphase, mitosis or apoptosis and revealed different interphase morphologies for cell lines quantifiable by scaling analyses. Finally, construct conversions in simultaneous co-transfections due to recombination/repair/replication were discovered in 25 % of cells and led to a variety of new applications.
The progress in Micromorphology and Biochemistry of the last decades has led to a rather far reaching understanding of the function of the genes. Much is also known about their morphological organization within the cell, particularly their reduplication and segregation in connection with the process of cell division. The intensive light microscopic studies of the earlier cytological era on cell division and chromosomes, which laid the basis for this understanding are very comprehensively covered by WASSERMANN (1929) in his masterly contribution "Wachstum und Vermehrung der lebendigen Masse" in this handbook. There exist also many more recent reviews on chromosomes and on cytogene tics (e. g. SWANSON, 1960; MAZIA, 1961; TURPIN and LEJEUNE, 1965; WmTEHousE, 1969; HAMERTON, 1971; FORD, 1973). However, although some of them cover the more recent findings in man, they have either had to rely on more favorable species for detailed basic information or handled cytogenetic problems from a more practical and clinical point of view. Since moreover, the last few years have brought a flood of new information on chromosomes due to new cytological techniques, a new review on human chromosomes would seem justified within the frame of this handbook. This review will be restricted to human somatic chromosomes, i. e. it wi11leave out meiosis, and will provide information on other species only if this seems necessary for increased clarity.
Integrating classical knowledge of chromosome organisation with recent molecular and functional findings, this book presents an up-to-date view of chromosome organisation and function for advanced undergraduate students studying genetics. The organisation and behaviour of chromosomes is central to genetics and the equal segregation of genes and chromosomes into daughter cells at cell division is vital. This text aims to provide a clear and straightforward explanation of these complex processes. Following a brief historical introduction, the text covers the topics of cell cycle dynamics and DNA replication; mitosis and meiosis; the organisation of DNA into chromatin; the arrangement of chromosomes in interphase; euchromatin and heterochromatin; nucleolus organisers; centromeres and telomeres; lampbrush and polytene chromosomes; chromosomes and evolution; chromosomes and disease, and artificial chromosomes. Topics are illustrated with examples from a wide variety of organisms, including fungi, plants, invertebrates and vertebrates. This book will be valuable resource for plant, animal and human geneticists and cell biologists. Originally a zoologist, Adrian Sumner has spent over 25 years studying human and other mammalian chromosomes with the Medical Research Council (UK). One of the pioneers of chromosome banding, he has used electron microscopy and immunofluorescence to study chromosome organisation and function, and latterly has studied factors involved in chromosome separation at mitosis. Adrian is an Associate Editor of the journal Chromosome Research, acts as a consultant biologist and is also Chair of the Committee of the International Chromosome Conferences. The most up-to-date overview of chromosomes in all their forms. Introduces cutting-edge topics such as artificial chromosomes and studies of telomere biology. Describes the methods used to study chromosomes. The perfect complement to Turner.
Genomic technologies provide the means of diagnosis and management of many human diseases. Without insights from cytogenetics, correct interpretation of modern high-throughput results is difficult, if not impossible. This book summarizes applications of cytogenetics and molecular cytogenetics for students, clinicians and researchers in genetics, genomics and diagnostics. The book combines the state-of-the-art knowledge and practical expertise from leading researchers and clinicians and provides a comprehensive overview of current medical and research applications of many of these technologies. KEY FEATURES • Provides clear summaries of fluorescence in situ hybridization technologies and others • Comprehensively covers established and emerging methods • Chapters from an international team of leading researchers • Useful for students, researchers and clinicians
Chromosomes Today Volume 12 records the plenary proceedings of the 12th triennial International Chromosone Conference, presenting an overview of the current concerns in the developing studies of animal, plant and human cytogenetics. As well as giving an accurate historical record of the achievements in chromosome studies, this important series points the way forword, emphasizing the areas in which new developments will take place. Volume 12 explores the complete integration of molecular biology and cytogenetics, evaluating the concensus of the world's cytogeneticists concerning the nature and activities of the chromosome.It reinforces our view of the chromosome as the genetic organelle whose structure, behaviour and modification underlie our modern concept ofeukaryote genetics.