DNA Repair and Human Disease
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Edited By:Adayabalam BalajeeCenter for Radiological Research Columbia University New York, New York, U.S.A. ISBN: 978-0-387-34195-8 Published: 2006-06-05 This book may be purchased as an eBook (pdf) for $99, or individual chapters (pdf) may be purchased from the list below for $19. |
DNA Repair and Human Disease highlights the molecular complexities of a few well-known human hereditary disorders that arise due to perturbations in the fidelity of diverse DNA repair machineries.
Chapters available from this book
Mechanisms of DNA Damage and Repair in Alzheimer Disease
V. Prakash Reddy, George Perry, Marcus S. Cooke, Lawrence M. Sayre and Mark A. Smith
Reactive oxygen species (ROS) are produced during the respiratory cycle in mitochon- dria,1 as well as normal cellular and xenobiotic metabolism. Exposure to various noxious insults can also lead to ROS production. In addition, ROS are also generated through metal-catalyzed reactions. A consequ...
Trichothiodystrophy: A Disorder Highlighting the Crosstalk between DNA Repair and Transcription
Miria Stefanini
Trichothiodystrophy (TTD) is a rare autosomal recessive multisystem disorder characterized by sulfur-deficient brittle hair, mental and physical retardation, ichthyosis, and, in many patients, cutaneous photosensitivity but no cancer incidence. All sun-sensitive TTD cases appear to be defective i...
Human Premature Aging Disorders and Dysfunction of DNA Repair
Byungchan Ahn and Vilhelm A. Bohr
Werner’s syndrome (WS) and Cockayne syndrome (CS) are rare human autosomal recessive disorders classified as segmental progeroid disorders. WS is marked by premature onset of age-related phenotypic changes (such as cataract and greying of hair etc) and genome instability. Cells derived from CS ...
Roles of the BRCA1 and BRCA2 Breast Cancer Susceptibility Proteins in DNA Repair
Katrin Gudmundsdottir, Emily Witt and Alan Ashworth
Since the cloning of the BRCA1 and BRCA2 genes less than 10 years ago, a great deal of effort has been expended in attempting to uncover the functions of the encoded proteins. BRCA1 and BRCA2 have now been linked to a wide variety of cellular functions through binding or colocalization with other...
Orchestration of Telomeres and DNA Repair Factors in Mammalian Cells Implications for Cancer and Ageing
M. Prakash Hande
Loss of telomere homeostasis via chromosome-genomic instability might effectively pro mote tumour progression. Telomere function may have contrasting roles: inducing rep licative senescence and promoting tumourigenesis and these roles may vary between cell types depending on the expression of tel...
Is Ataxia Telangiectasia a Result of Impaired Coordination Between DNA Repair and Cell Cycle Checkpoint Regulators?
Adayabalam S. Balajee and Charles R. Geard
Ataxia telangiectasia (AT) is an autosomal recessive multisystem human disorder and patients are characterized by cerebellar ataxia, oculocutaneous telangiectasia, immuno deficiency, chromosomal instability and radio sensitivity with an increased predisposition to lymphoid cancer in childhood. Th...
Defective Solar Protection in Xeroderma Pigmentosum and Cockayne Syndrome Patients
Colette apRhys and Daniel Judge
Xeroderma pigmentosum (XP),1 Cockayne syndrome (CS)2,3 and xeroderma pigmentosum-Cockayne syndrome (XP-CS)4,5 are rare disorders with autosomal recessive inheritance, characterized by extreme sensitivity to sunlight. This sensitivity reflects the inadequate removal and/or repair of UV-induced les...
The Fanconi Anemia/BRCA Pathway: FANCD2 at the Crossroad between Repair and Checkpoint Responses to DNA Damage
Massimo Bogliolo and Jordi Surralles
Studies on cancer-prone and rare human genetic disorders often lead to significant advances in our understanding of the complex network of genome stability and DNA repair pathways that have evolved in the human genome to prevent the harmful effects of exposure to DNA damaging agents. One such dis...
Radiosensitivity of Cells Derived From Down Syndrome Patients: Is Defective DNA Repair Involved?
Adayapalam T. Natarajan
Down’s syndrome (DS) is an autosomal recessive human disorder caused by an extra copy of chromosome 21. DS patients are characterized by dwarfism and mental re tardation accompanied by an increased incidence of cancer development in various tissues and organs. DS patients also show signs of pre...
Radiosensitivity of Cells Derived From Down Syndrome Patients: Is Defective DNA Repair Involved?
Adayapalam T. Natarajan
Down’s syndrome (DS) is an autosomal recessive human disorder caused by an extra copy of chromosome 21. DS patients are characterized by dwarfism and mental re tardation accompanied by an increased incidence of cancer development in various tissues and organs. DS patients also show signs of pre...
DNA Repair Aspects For Recq Helicase Disorders
Takehisa Matsumoto
RecQ family DNA helicases are defined by amino acid sequence similarities to Escheri chia coli RecQ which has been known to act in homologous recombination and to suppress illegitimate recombination, particularly during the repair of DNA double strand breaks. Five RecQ family genes have been iden...
