Transcription Factors and Human Disease / Edition 1

by Gregg L. Semenza

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.

Product Details

ISBN-13:	9780195112399
Publisher:	Oxford University Press
Publication date:	10/01/1998
Series:	Oxford Monographs on Medical Genetics , #37
Edition description:	New Edition
Pages:	384
Product dimensions:	6.40(w) x 9.30(h) x 1.30(d)

About the Author

Semenza, Gregg L., MD, PhD (Johns Hopkins Univ)

Table of Contents

Part I: Transcriptional Regulation1. Gene Expression and Transcriptional Regulation2. CIS-acting Transcriptional Regulatory Elements3. Trans-acting FactorsPart II: Transcriptional Pathophysiology4. Mutations in Cis-acting Transcriptional Regulatory Elements5. Mutations in Genes Encoding Transcription Factors:The Nuclear Receptor Superfamily6. Other Zinc-Finger Proteins: WT1 and GLI37. PAX Proteins8. bHLH Proteins9. Homeodomain Proteins10. HMG Domain Proteins11. POU Domain Proteins12. Other Transcriptional Factor Families13. Co-activators14. General Transcription Factors15. Somatic Cell Genetic Disease: Cancer16. Epigenetic Disease: Teratogenesis

Editorial Reviews

Semenza (pediatrics, Johns Hopkins) describes the basic science of transcriptional regulation which affects a number of human diseases and malformation syndromes. He describes inherited human diseases attributable to mutation in DNA sequences encoding transcription factors or their cognate binding sites, and demonstrates that there is a direct connection between molecular defects in transcriptional regulation and human pathophysiology. Intended for students, clinicians, and researchers in the fields of medical genetics and molecular biology, and for developmental and cellular biologists. Annotation c. Book News, Inc., Portland, OR (booknews.com)

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