DNA Repair and Human Disease comprises a collection of some of the important human disorders with a comprehensive description of clinical manifestations as well as the cellular and molecular aspects of the genes responsible for the diseases.
Contents
1. Human Premature Aging Disorders and Dysfunction of DNA Repair
- Werner Syndrome
- Cockayne's Syndrome
2. DNA Repair Aspects for RecQ Helicase Disorders
- Bloom Syndrome Gene
- Werner Syndrome Gene
- Rothmund-Thomson Syndrome Gene
3. Trichothiodystrophy: A Disorder Highlighting the Crosstalk Between DNA Repair and Transcription
- Clinical Features
- Clinical Photosensitivity Is Usually Associated with an Altered Cellular Response to UV
- Heterogeneity of the Repair Defect in TTD
- The Genes Mutated in TTD Are All Related to the Transcription Factor TFIIH
- Mutational Analysis in Repair-Defective TTD Patients
- The Cellular Amount of TFIIH is Reduced in All Repair-Defective TTD Patients
- Consequences of XPD Mutations on the Activities of TFIIH
- TTD Symptoms Reflected Subtle Defects in Transcription
- XPD Mutations May Interfere with the Regulation of Gene Expression by TFIIH
- TFIIH Defects and Clinical Outcome
4. Roles of hte BRCA1 and BRCA2 Breast Cancer Susceptibility Proteins in DNA Repair
- The BRCA Genes
- BRCA Genes as Caretakers of the Genome
- Double Strand Break Repair
- Role of BRCA1 in DNA Repair
- Role of BRCA2 in DNA Repair
- BRCA1 and BRCA2 and Links to Other DNA Repair Syndromes
- Clinical and Therapeutics Implications
5. Radiosensitivity of Cells Derived from Down Syndrome Patients: Is Defective DNA Repair Involved?
- Chromosome Aberrations in DS Cells
- Sister Chromatid Exchanges in DS Cells
- Mutations in Cultured DS Cells
- Repair of DNA Damage in DS Cells
- Repair of DNA Single Strand Breaks in DS Cells
- Unscheduled DNA Synthesis
- Radio-Resistant DNA Synthesis
- Repair of Mitochondrial DNA Damage
- Mouse Models of DS
6. The Fanconi Anemia/BRCA Pathway: FANCD2 at the Crossroad Between Repair and Checkpoint Responses to DNA Damage
- The Genetics of Fanconi Anemia
- FANCD2 as a Key Player in Fanconi Anemia
- DNA Repair and Cell Cycle Regulation Downstream FANCD2
- Mouse Models of FA
- The FA Pathway in Meiosis and Chromatin Remodeling
7. Is Ataxia Telangiectasia a Result of Impaired Coordination Between DNA Repair and Cell Cycle Checkpoint Regulators?
- Phenotypic Features and Incidence of AT in Human Population
- Cellular Characteristics of AT Patients
- ATM Gene and Its Alterations in Cancer Patients
- ATM Protein
- Role of ATM Kinase in Cell Cycle Check Point Regulation
- Role of ATM Kinase in DNA Repair
- Ataxia Telangiectasia: Cell Cycle Versus DNA Repair Defects
- Genotype and Phenotype Correlation of AT Patients
8. Mechanisms of DNA Damage and Repair in Alzheimer Disease
- Free Radical Formation and Biomolecular Damage
- Markers of DNA Damage in AD
- 8-Hydroxyguanosine
- Mitochondrial Versus Nuclear DNA Damage
- Neuronal DNA Damage by RNS
- Diet Restriction and DNA Damage
- DNA Repair and AD
9. Orchestration of Telomeres and DNA Repair Factors in Mammalian Cells: Implications for Cancer and Ageing
- Telomeres and Telomerase
- Telomeres and Ageing
- Telomeres and Cancer
- Telomeres and DNA Repair Factors
- SCID and Telomeres
- Nonhomologous End Joining Complex and Telomeres
- PARP-1 and Telomeres
- Ataxia Telangiectasia Mutated and Telomeres
- Concerted Roles of PARP-1 and p53 on Telomeres
- Interplay Between PARP and Ku80 on Telomere-Chromosome Integrity
- Homologous Recombination Proteins and Telomeres
10. Defective Solar Protection in Xeroderma Pigmentosum and Cockayne Syndrome Patients
- Clinical Presentation
- Human DNA Repair
- Genes
- Mutations Underlying the Phenotype
- The Cellular and Biochemical Phenotype of NER
- Damage Recognition
- Open Complex Formation
- Incision
- DNA Resynthesis
- Translesion Synthesis
- Multifunctional DNA Repair Proteins
Index
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