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Klappentext 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 manyof 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 ofprogenitor 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 somaticcell 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 alsoexplored. This book thus provides a direct connection between molecular defects in transcriptional regulation and human pathophysiology. Zusammenfassung This work discusses the basic science of transcriptional regulation, and describes inherited human diseases attributable to mutations in DNA sequences encoding transcription factors or their cognate binding sites. Inhaltsverzeichnis 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 GL13 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: Epidenetic Disease: Teratogenesis ...
