Chapter category: DNA
Is Ataxia Telangiectasia a Result of Impaired Coordination Between DNA Repair and Cell Cycle Checkpoint Regulators?
DNA Repair and Human Disease
Edited by: Adayabalam BalajeeISBN: 0-387-34195-1
» Get more information about this book at landesbioscience.com «
Chapter authors:
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. The gene responsible for AT, ataxia telangiectasia mutated (ATM), has been cloned and its protein product has been biochemically characterized as a serine/threonine kinase belonging to the family of phosphatidylinositol (PI-3) like kinases. Subsequent biochemical studies by several laboratories have identified a number of DNA repair and cell cycle proteins that are phosphorylated by ATM kinase in response to different DNA damaging agents. One intriguing question that comes to mind is whether the phenotypic features of AT stem from a DNA repair defect or a cell cycle defect or both. The scope of this review is focused on the potential functions of ATM in both DNA repair and cell cycle checkpoint regulation and how deficiencies in these overlapping functions can lead to some of the phenotypic features of AT patients.
Additional chapters 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...
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, cutan...
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 phenotypi...
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 n...
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 prom...
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 ins...
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 sensit...
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 ...
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 increase...
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 increase...
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...
