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This volume is a compilation of twenty articles written by scientists from different parts of the world dealing with various aspects of repetitive sequences in chromosomes, telomeric sequences and their maintenance by telomerase, chromatin structure and gene activation, centrometric complexity in holocentric chromosomes, translocation frequencies in X and Y chromosomes and evolution of DNA repair mechanisms, cytogenetics of certain groups of animals viz. lepidoptera, fishes and birds, and radiosensitivity as an indicator of predisposition to breast cancer. The molecular genetics of various cancers viz., gastrointestinal, lung, prostate, and bladder is also discussed.
It was at the end of the 19th century that a Swiss biologist, Karl Nageli first proposed the existence of hereditary organelles that carried information from parent to offspring. Ensuing decades experienced vigorous studies that led to the development of discovery that chromosomes are indeed the carriers of genetic information. Subsequent studies, especially by Morgan and Bridges, established unequivocally the chromosome theory of inheritance. Today, the structure of chromosome is well established. At the physical level, eukaryotic chromosomes are composed of a single, linear, double helix of DNA. The elementary helical structure involves nucleosomes, comprised of histones around which the DNA is wrapped. A hierarchy of higher order of chromosomal architecture may possibly be responsible for the regulation of gene helical structures expression. The localized condensations of DNA constitute chromomeres. Uncoiled structures sometimes extending from chromomeres, which form loops, is the result of discontinuities in the regular coiling of the DNA in the chromosome.
Our understanding of the function and structure of chromosomes and their interrelationship has grown in recent years. The chapters in this issue describe the advances that have been made possible by combining microscope techniques with sophisticated biochemical and genetic approaches to unlock the secrets of chromosomes. The authors look at many aspects of chromosome biology, such as protein, DNA and RNA composition of chromosomes, defined chromosome structures, unusual chromosome structures and specialized chromosomes and microscope tools for chromosome analysis. 'Chromosome Structure and Function' will be an invaluable resource for undergraduate and postgraduate students in fields such as plant and animal sciences, genetics, and molecular biology. In fact, any student, teacher or researcher interested in chromosome biology will find this special issue indispensable.
This book presents an overview of various aspects of chromosome research, written by leading experts of the respective fields, combining classic and recent molecular biological results. The variety and comprehensiveness make it a handbook of chromosome research for all scientists, teachers and graduate students interested in this field. Dieses Buch faßt die unterschiedlichen Aspekte der Chromosomenforschung in Beiträgen von führenden Wissenschaftlern zusammen, wobei die klassischen Erkenntnisse mit neuesten Forschungsdaten zu einem umfassenden Überblick über das Gebiet kombiniert werden.
A Historical Perspective on the Study of Chromosome Structure and Function R. Appels Division of Plant Industry CSIRO P.O. Box 1600 A.C.T. AUSTRALIA "Modern physical science gives us no model to explain the re duplication of the gene-string in each cell generation, or to ex plain the production of effective quantities of specific enzymes or other agents by specific genes. The precise pairing and inter change of segments by homologous gene-strings at meiosis also suggest novel physical properties of this form of matter". Stadler (1954) The very strong influence of reductionism in the history of understanding chromosome structure and function is evident in the above quotation from Stadler's 1954 paper, "The gene". Earlyob servations on the constancy of the cytological appearance of chromo somes and their regular behaviour in cell division led to specula tion on their biological importance. As genetics became more refined in the early decades of the 20th century the genes-on-a string model of chromosomes developed and greater emphasis was placed on the further dissection of these structures. As a result, in the 1980's the reductionist approach is reaching a crest as extensive regions of the genetic material are being sequenced.
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.
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.
This book provides an introduction to human cytogenetics. It is also suitable for use as a text in a general cytogenetics course, since the basic features of chromosome structure and behavior are shared by all eukar yotes. Because my own background includes plant and animal cytoge netics, many of the examples are taken from organisms other than man. Since the book is written from a cytogeneticist's point of view, human syndromes are described only as illustrations of the effects of abnormal chromosome constitutions on the phenotype. The selection of the phe nomena to be discussed and of the photographs to illustrate them is, in many cases, subjective and arbitrary and is naturally influenced by my interests and the work done in our laboratory. The approach to citations is the exact opposite of that usually used in scientific papers. Whenever possible, the latest and/or most comprehen sive review has been cited, instead of the original publication. Thus the reader is encouraged to delve deeper into any question of interest to him or her. I am greatly indebted to many colleagues for suggestions and criticism. However, my special thanks are due to Dr. JAMES F. CROW, Dr. TRAUTE M. SCHROEDER, and Dr. CARTER DENNISTON for their courage in reading the entire manuscript. I wish to express my gratitude also to the cytogeneticists and editors who have generously permitted the use of published and unpublished photographs.
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.