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Author: Gregg L. Semenza Publisher: Oxford Monographs on Medical G ISBN: 9780195112399 Category : Health & Fitness Languages : en Pages : 396
Book Description
Several general principles have emerged from the study of human transcription factors. First, germline mutations in genes encoding transcription factors result in malformation syndromes in which the development of multiple body structures is affected. Second, somatic mutations involving many of the same genes contribute to tumorigenesis. Third, transcriptional regulatory mechanisms demonstrate remarkable evolutionary conservation. Fourth, prenatal development and postnatal physiology are unified by the demonstration that a single transription factor can control the proliferation of progenitor cells during development and the expression within the differentiated cells of gene products that participate in specific physiologic responses. Transcription Factors and Human Disease presents the basic science of transcriptional regulation and then describes inherited human diseases attributable to mutations in DNA sequences encoding transcription factors or their cognate binding sites. The involvement of transcription factors in somatic cell genetic diseases (cancer) and epigenetic disease (teratogenesis) is briefly discussed. The effect of specific mutations on transcription factor activity and the relationship between transcriptional dysregulation, dominant or recessive inheritance patterns, and disease pathogenesis are also explored. This book thus provides a direct connection between molecular defects in transcriptional regulation and human pathophysiology.
Author: Gregg L. Semenza Publisher: Oxford Monographs on Medical G ISBN: 9780195112399 Category : Health & Fitness Languages : en Pages : 396
Book Description
Several general principles have emerged from the study of human transcription factors. First, germline mutations in genes encoding transcription factors result in malformation syndromes in which the development of multiple body structures is affected. Second, somatic mutations involving many of the same genes contribute to tumorigenesis. Third, transcriptional regulatory mechanisms demonstrate remarkable evolutionary conservation. Fourth, prenatal development and postnatal physiology are unified by the demonstration that a single transription factor can control the proliferation of progenitor cells during development and the expression within the differentiated cells of gene products that participate in specific physiologic responses. Transcription Factors and Human Disease presents the basic science of transcriptional regulation and then describes inherited human diseases attributable to mutations in DNA sequences encoding transcription factors or their cognate binding sites. The involvement of transcription factors in somatic cell genetic diseases (cancer) and epigenetic disease (teratogenesis) is briefly discussed. The effect of specific mutations on transcription factor activity and the relationship between transcriptional dysregulation, dominant or recessive inheritance patterns, and disease pathogenesis are also explored. This book thus provides a direct connection between molecular defects in transcriptional regulation and human pathophysiology.
Author: Edgar Wingender Publisher: Wiley-Blackwell ISBN: Category : Science Languages : en Pages : 452
Book Description
A much-needed guide through the overwhelming amount of literature in the field. Comprehensive and detailed, this book combines background information with the most recentinsights. It introduces current concepts, emphasizing the transcriptional control of genetic information. Moreover, it links data on the structure of regulatory proteins with basic cellular processes. Both advanced students and experts will find answers to such intriguing questions as: - How are programs of specific gene repertoires activated and controlled? - Which genes drive and control morphogenesis? - Which genes govern tissue-specific tasks? - How do hormones control gene expression in coordinating the activities of different tissues? An abundant number of clearly presented glossary terms facilitates understanding of the biological background. Speacial feature: over 2200 (!) literature references.
Author: Paul J. Higgins Publisher: Humana Press ISBN: 9781607617419 Category : Science Languages : en Pages : 377
Book Description
In the last few years, significant breakthroughs in transcription research expanded our appreciation for the complexity of molecular controls on gene expression in mammalian cells. In Transcription Factors: Methods and Protocols, experts in the field describe state-of-the-art approaches that investigators can use to probe critical mechanisms underlying transcription factor nuclear-cytoplasmic trafficking as well as to assess the functional impact of post-translational modifications on transcription factor function. The chapters are written by prominent scientists, many of whom developed these methods, and highlight protocols that focus on specific transcription factor family members with particular relevance to human disease. Composed in the highly successful Methods in Molecular BiologyTM series format, each chapter contains a brief introduction, step-by-step methods, a list of necessary materials, and a Notes section which shares tips on troubleshooting and avoiding known pitfalls. Comprehensive and current, Transcription Factors: Methods and Protocols compiles the latest techniques for elucidating controls on transcription factor intracellular localization and activity, and consequently is unlike any other methods-based text on transcriptional regulation today.
Author: David Latchman Publisher: Academic Press ISBN: 9780080561035 Category : Science Languages : en Pages : 488
Book Description
Transcription, or the process by which DNA produces RNA, is a central aspect of gene expression. Transcription factors regulate transcription during development and in disease states. As such, it is critical for researchers to gain a good understanding of the relationship between the structure of various families of transcription factors and their function, as well as roles in human disease. Since publication of the Fourth Edition, there have been major advances, notably in the areas of chromatin remodeling and genome-scale analyses. This complete update includes all new coverage of the latest developments, from enabling genomic technologies to studies on the importance of post-translational modifications beyond phosphorylation events. Potential of transcription factors as therapeutic targets in human disease Importance of histone modifications Use of genome-based sequence analysis and high-throughput methods Applications of the chromatin immunoprecipitation (ChIP) assay Transcriptional elongation Regulation by post-translational modifications Regulatory networks and bioinformatics
Author: The Royal Society Publisher: National Academies Press ISBN: 0309671132 Category : Medical Languages : en Pages : 239
Book Description
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.
Author: Katya Ravid Publisher: John Wiley & Sons ISBN: 0471461067 Category : Science Languages : en Pages : 640
Book Description
Transcription Factors Normal and Malignant Development of Blood Cells Katya Ravid and Jonathan Licht The role of transcription factors in activating specific genes in blood cells is an important facet of hematopoiesis. Equally important, however, is the pursuit of genes rearranged and aberrantly activated in leukemias (blood malignancies). Transcription Factors: Normal and Malignant Development of Blood Cells focuses on those major transcription factors involved in activation of lineage-specific gene expression during normal versus malignant development of specific blood lineages, as revealed from gene promoter studies, knockout of transcription factors in mice models, and the identification and characterization of chromosomal rearrangement in human blood leukemias. This complete digest of current transcription factor data offers comprehensive coverage of the myriad of transcription factors in blood cell development, composed by established experts in the field. In addition to updating the reader on the connection between chromosomal translocations involving transcription factors and cellular transformation leading to leukemia, Transcription Factors also reviews such subjects as: * Transcription factors and the megakaryocytic, myeloid, and erythroid lineages * Leukemias due to chromosomal translocations involving gene encoding transcription factors * Oncogenesis and hematopoiesis * In vivo studies of transcription factors implicated in hematopoiesis * And much more Appealing to both the researcher and the clinician in the field of hematology, Transcription Factors is a timely presentation of cell lineage development and sheds light on the processes involved in the development of specific leukemias. Providing insight into the study of transcription factors, readers will gain an understanding of mechanisms that lead to normal lineage commitment and terminal differentiation.
Author: Veronica van Heyningen Publisher: Academic Press ISBN: 0080877818 Category : Science Languages : en Pages : 415
Book Description
Long-Range Control of Gene Expression covers the current progress in understanding the mechanisms for genomic control of gene expression, which has grown considerably in the last few years as insight into genome organization and chromatin regulation has advanced. Discusses the evolution of cis-regulatory sequences in drosophila Includes information on genomic imprinting and imprinting defects in humans Includes a chapter on epigenetic gene regulation in cancer
Author: Martin J. Tymms Publisher: Springer Science & Business Media ISBN: 159259686X Category : Medical Languages : en Pages : 304
Book Description
The effort to sequence the human genome is now moving toward a c- clusion. As all of the protein coding sequences are described, an increasing emphasis will be placed on understanding gene function and regulation. One important aspect of this analysis is the study of how transcription factors re- late transcriptional initiation by RNA polymerase II, which is responsible for transcribing nuclear genes encoding messenger RNAs. The initiation of Class II transcription is dependent upon transcription factors binding to DNA e- ments that include the core or basal promoter elements, proximal promoter elements, and distal enhancer elements. General initiation factors are involved in positioning RNA polymerase II on the core promoter, but the complex - teraction of these proteins and transcriptional activators binding to DNA e- ments outside the core promoter regulate the rate of transcriptional initiation. This initiation process appears to be a crucial step in the modulation of mRNA levels in response to developmental and environmental signals. Transcription Factor Protocols provides step-by-step procedures for key techniques that have been developed to study DNA sequences and the protein factors that regulate the transcription of protein encoding genes. This volume is aimed at providing researchers in the field with the well-detailed protocols that have been the hallmark of previous volumes of the Methods in Molecular TM Biology series.
Author: Nadav Ahituv Publisher: Springer Science & Business Media ISBN: 1461416833 Category : Medical Languages : en Pages : 289
Book Description
In Gene Regulatory Sequences and Human Disease, the Editor will introduce the different technological advances that led to this breakthrough. In addition, several examples will be provided of nucleotide variants in noncoding sequences that have been shown to be associated with various human diseases.
Author: Gregg L. Semenza
Author: Gregg L. Semenza
Author: Edgar Wingender
Author: Paul J. Higgins
Author: David Latchman
Author: Bruce Alberts
Author: The Royal Society
Author: Katya Ravid
Author: Veronica van Heyningen
Author: Martin J. Tymms
Author: Nadav Ahituv