Download or read book Chromosomal fragile sites genome instability and human diseases written by Qing Hu and published by Frontiers Media SA. This book was released on 2023-02-10 with total page 112 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book DNA Damage Genome Stability and Human Disease written by Yuejin Hua and published by Frontiers Media SA. This book was released on 2022-01-27 with total page 154 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book New Research on Genomic Instability written by Eleanor J. Gloscow and published by Nova Publishers. This book was released on 2007 with total page 312 pages. Available in PDF, EPUB and Kindle. Book excerpt: Many cancer biologists now believe that genomic instability not only initiates carcinogenesis, but also allows the tumour cell to become metastatic and evade drug toxicity. The loss of stability of the genome is becoming accepted as one of the most important aspects of carcinogenesis. One of the hallmarks of the cancer cell is the inherent instability of its genome. This book presents important research in this exciting field.
Download or read book Chromosomal Instability and Aging written by Fuki Hisama and published by CRC Press. This book was released on 2003-01-29 with total page 598 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text examines the relationship between DNA damage and repair, cellular senescence, genomic instability, and aging. The authors provide in-depth discussions of various types of DNA damage, the DNA repair network, and cellular responses to genetic damage to assess their impact on the modulation of aging processes and age-related diseases, including cancer development. Chromosomal Instability and Aging describes cloning genes for human chromosomal instability disorders, the causal factors and consequences of chromosomal injury, the telomere hypothesis of aging, and age-dependant mitochondrial genetic instability. It includes more than 2200 references to facilitate further research, making it an informative and timely guide.
Download or read book Genetic Characterization and Analysis of Cis and Trans elements That Facilitate Genome Stability in Saccharomyces Cerevisiae written by and published by . This book was released on 2010 with total page 328 pages. Available in PDF, EPUB and Kindle. Book excerpt: Chromosomal fragile sites are specific loci associated with a high frequency of breakage and recombination. A cell's ability to repair and/or replicate through a lesion is prerequisite to the maintenance of genomic stability. An improved understanding of fragile site biology and its contribution to replication defects and genomic instability is critical for prevention, intervention, and diagnosis of genetic diseases such as cancer. This work seeks to identify and characterize both trans and cis fragile sites associated elements involved in instability onset and progression. An array of Saccharomyces cerevisiae isogenic DNA repair deficient mutants were utilized to identify genes contributing to the stability or instability of a natural fragile site ̃403 kb from the left telomere on chromosome VII. Findings suggest that the RAD52 epistasis group, the MRX complex, non-homologous end-joining (NHEJ) pathways, MUS81 and SGS1 helicases, translesion polymerases, and a majority of the post replication repair (PRR) proteins are all required for faithful replication of the 403 fragile site and likely other fragile sites as well. In contrast I found that MMS2, previously thought to be specific to the PRR pathway, is required to prevent the fusion of repetitive elements within the 403 site. mgs1 (homolog of the human Werner helicase interacting protein, WHIP) and pol3-13 (a subunit of the DNA polymerase delta) mutants also exhibited reduced instability in checkpoint deficient cells. These findings suggest previously uncharacterized function of Mgs1, Pol3 and Mms2 in regulation of genome regions at risk of replication damage. We further find the presence of inverted repeats (IR) are sufficient to induce instability. Two IR's proximal to the 403 site consistently fuse to generate acentric and dicentric chromosomes involving the 403 fragile site and a newly identified site on chromosome VII as well. The frequency of fusion events is aggravated by chromatin traffic stressors such as tRNA transcription induced fork stalling and replisome termination regions.
Download or read book Fragile Sites on Human Chromosomes written by Grant R. Sutherland and published by . This book was released on 1985 with total page 312 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fragile sites--points where chromosomes are apt to break--came to prominence in the late 1970s and are now the subject of much clinical concern and laboratory investigation. They are known or suspected agents in the genesis of mental retardation, birth defects, and cancer. This book, the first to deal with fragile sites on human chromosomes, takes a broad interdisciplinary approach to the subject, incorporating findings from cytogenetics, medical and clinical genetics, population genetics, mental retardation, dysmorphology, and oncology. The book has three interrelated sections. The first, focusing on the laboratory, presents what is known about fragile sites, their cytogenetics, and the conditions of cell culture needed to demonstrate them. A clinical section follows, covering X-linked forms of mental retardation, the clinical features associated with the fragile X, and genetic counseling with fragile sites. The final section considers fragile sites as they relate to genetics, including the possible relationship of fragile sites to cancer and to constitutional chromosome abnormalities. This book contains much previously unpublished material and will be an important resource for geneticists and cytogeneticists, molecular and cancer biologists, oncologists, pediatricians, and other health professionals.
Download or read book Human Chromosomes written by Orlando J. Miller and published by Springer Science & Business Media. This book was released on 2011-06-28 with total page 508 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Heritable Human Genome Editing written by The Royal Society and published by National Academies Press. This book was released on 2021-01-16 with total page 239 pages. Available in PDF, EPUB and Kindle. Book excerpt: Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.
Download or read book Fragile Sites and Cancer written by Amani Mallat and published by . This book was released on 2013 with total page 73 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Systems Biology of Cancer written by Sam Thiagalingam and published by Cambridge University Press. This book was released on 2015-04-09 with total page 597 pages. Available in PDF, EPUB and Kindle. Book excerpt: An overview of the current systems biology-based knowledge and the experimental approaches for deciphering the biological basis of cancer.
Download or read book The Replication of the Two Hotspots of Breakage Located Within the Human Common Fragile Site FRA11D Occurs in Mid to Late S Phase written by Omar El Mawas and published by . This book was released on 2015 with total page 118 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Fragile X Syndrome written by Randi Jenssen Hagerman and published by . This book was released on 1996 with total page 481 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition of Fragile X Syndrome includes updated information on the latest research findings -- especially in molecular biology -- as well as new photographs highlighting clinical features and thorough coverage of treatment and intervention, diagnosis, and research. Praise for the first edition: "Answers nearly all the questions that parents or clinicians might raise about fragile X syndrome....Can be recommended confidently as a thoroughly up-to-date, reliable, and informative account of the condition." -- Lancet "The clinical and cytogenetic material in this book is excellent and provides a strong background for physicians and students... Fragile X Syndrome still presents the best comprehensive treatment of this complex disorder. Physicians, students, and other interested professionals can either read this book from cover to cover or select the chapters that interest or apply to them." -- New England Journal of Medicine
Download or read book Genetic Instability and Tumorigenesis written by Michael B. Kastan and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 189 pages. Available in PDF, EPUB and Kindle. Book excerpt: M. B. KASTAN Cancer is a disease resulting from alterations of cellular genes which cause phe notypic changes in somatic cells. Usually, when we think about genetic diseases, we think about inheriting one or two abnormal genes from our parents and these gene abnormalities confer the disease phenotype. In contrast, in the majority of cancers, no such inherited gene abnormalities can be identified (which does not mean that they do not exist) and there is no obvious family history suggesting an inherited disease. The vast majority of genes which are altered in the cancer cells are not transmitted through the germ line, but rather become abnormal in somatic cells sometime during the lifetime of the individual. Thus, the critical question which arises is "how do these genetic changes occur in somatic cells?". Epidemiologic data suggest that exposure to environmental carcinogens con tributes to the genesis of at least 80% of all human cancers (DOLL and PETO 1981). Thus, it is natural to suspect that the genetic changes in somatic cells which con tribute to the transformed phenotype arise from DNA damage caused by such exposures. Therefore, understanding how cells respond to DNA-damaging agents is likely to be an important component of our understanding of the genesis of human tumors.
Download or read book The AGT Cytogenetics Laboratory Manual written by Marilyn S. Arsham and published by John Wiley & Sons. This book was released on 2017-04-24 with total page 1216 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book DNA Replication written by Hisao Masai and published by Springer. This book was released on 2018-01-22 with total page 581 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book reviews the latest trends and future directions of DNA replication research. The contents reflect upon the principles that have been established through the genetic and enzymatic studies of bacterial, viral, and cellular replication during the past decades. The book begins with a historical overview of the studies on eukaryotic DNA replication by Professor Thomas Kelly, a pioneer of the field. The following chapters include genome-wide studies of replication origins and initiation factor binding, as well as the timing of DNA replications, mechanisms of initiation, DNA chain elongation and termination of DNA replication, the structural basis of functions of protein complexes responsible for execution of DNA replication, cell cycle-dependent regulation of DNA replication, the nature of replication stress and cells’ strategy to deal with the stress, and finally how all these phenomena are interconnected to genome instability and development of various diseases. By reviewing the existing concepts ranging from the old principles to the newest ideas, the book gives readers an opportunity to learn how the classical replication principles are now being modified and new concepts are being generated to explain how genome DNA replication is achieved with such high adaptability and plasticity. With the development of new methods including cryoelectron microscopy analyses of huge protein complexes, single molecular analyses of initiation and elongation of DNA replication, and total reconstitution of eukaryotic DNA replication with purified factors, the field is enjoying one of its most exciting moments, and this highly timely book conveys that excitement to all interested readers.
Download or read book Chromosomal Instability and Aging written by Fuki Hisama and published by CRC Press. This book was released on 2003-01-29 with total page 600 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text examines the relationship between DNA damage and repair, cellular senescence, genomic instability, and aging. The authors provide in-depth discussions of various types of DNA damage, the DNA repair network, and cellular responses to genetic damage to assess their impact on the modulation of aging processes and age-related diseases, including cancer development. Chromosomal Instability and Aging describes cloning genes for human chromosomal instability disorders, the causal factors and consequences of chromosomal injury, the telomere hypothesis of aging, and age-dependant mitochondrial genetic instability. It includes more than 2200 references to facilitate further research, making it an informative and timely guide.
Download or read book Identification of Proteins Involved in the Maintenance of Genome Stability written by Edith Hang Yu Cheng and published by . This book was released on 2015 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
