Overview

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.

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9780195112399

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"""This book has many strengths. It is very weel written in a clear, persuasive style. The enthusiam and depth of knowledge that Gregg Semenza has for his subject is evident in every chapter.... The referencing is also very well judged, being both selective and comprehensive."" --Human Genetics ""...this book will be very useful to two diverse audiences. Clinicians will be stimulated by the many examples and suggestions provided, and hopefully will look at their patients who have congenital and hereditary defects from a different perspctive. Molecular biologists will be intrigued by the transcriptional phenomena hidden behind a particular phenotype. This book represents an important example of how medical sciences and molecular biology may interact profitably.""--Nature Medicine ""The most useful chapters of the book are those...organized by transcription factor family....Students of human biology will find this material accessible, useful, and remarkably thorough....""--CELL"

This book has many strengths. It is very weel written in a clear, persuasive style. The enthusiam and depth of knowledge that Gregg Semenza has for his subject is evident in every chapter.... The referencing is also very well judged, being both selective and comprehensive. --Human Genetics ...this book will be very useful to two diverse audiences. Clinicians will be stimulated by the many examples and suggestions provided, and hopefully will look at their patients who have congenital and hereditary defects from a different perspctive. Molecular biologists will be intrigued by the transcriptional phenomena hidden behind a particular phenotype. This book represents an important example of how medical sciences and molecular biology may interact profitably. --Nature Medicine The most useful chapters of the book are those...organized by transcription factor family....Students of human biology will find this material accessible, useful, and remarkably thorough.... --CELL

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