Transcription Factors and Human Disease / Edition 1

Transcription Factors and Human Disease / Edition 1

by Gregg L. Semenza
     
 

ISBN-10: 0195112393

ISBN-13: 9780195112399

Pub. Date: 10/28/1998

Publisher: Oxford University Press, USA

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

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, USA
Publication date:
10/28/1998
Series:
Oxford Monographs on Medical Genetics Series, #37
Edition description:
New Edition
Pages:
384
Product dimensions:
6.40(w) x 9.30(h) x 1.30(d)

Table of Contents

Part I: Transcriptional Regulation
1. Gene Expression and Transcriptional Regulation
2. CIS-acting Transcriptional Regulatory Elements
3. Trans-acting Factors
Part II: Transcriptional Pathophysiology
4. Mutations in Cis-acting Transcriptional Regulatory Elements
5. Mutations in Genes Encoding Transcription Factors:The Nuclear Receptor Superfamily
6. Other Zinc-Finger Proteins: WT1 and GLI3
7. PAX Proteins
8. bHLH Proteins
9. Homeodomain Proteins
10. HMG Domain Proteins
11. POU Domain Proteins
12. Other Transcriptional Factor Families
13. Co-activators
14. General Transcription Factors
15. Somatic Cell Genetic Disease: Cancer
16. Epigenetic Disease: Teratogenesis

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