Titlebook: DNA Repair and Human Disease; Adayabalam S. Balajee Book 2006 Springer-Verlag US 2006 DNA.DNA repair.Telomere.Xeroderma pigmentosum.aging.

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DNA Repair Aspects for RecQ Helicase Disorders,press illegitimate recombination, particularly during the repair of DNA double strand breaks. Five . family genes have been identified in humans, and three (., and .) have been identified as defective in the human genetic disorders; Bloom syndrome, Werner syndrome, and a subset of Rothmund-Thomson s

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Trichothiodystrophy,dation, ichthyosis, and, in many patients, cutaneous photosensitivity but no cancer incidence. All sun-sensitive TTD cases appear to be defective in nudeotide excision repair (NER) as a consequence of alterations in one of three genes, namely . and .. Intriguingly, in view of the very marked differe

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Roles of the BRCA1 and BRCA2 Breast Cancer Susceptibility Proteins in DNA Repair,encoded proteins. BRCA1 and BRCA2 have now been linked to a wide variety of cellular functions through binding or colocalization with other proteins. In this chapter we focus on the best characterized of these potential functions, DNA repair.

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Radiosensitivity of Cells Derived from Down Syndrome Patients,mental retardation accompanied by an increased incidence of cancer development in various tissues and organs. DS patients also show signs of premature aging phenotypes. Many of the phenotypic features of DS patients are presumably due to the excess of genetic material of chromosome 21. Cells derived

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Defective Solar Protection in Xeroderma Pigmentosum and Cockayne Syndrome Patients,esult in multisystem disorders. Mutations in the same gene can result in different clinical outcomes and severity depending on the site of a mutation and the gene dosage. This is further complicated by the possibility of pleiotropic effects caused by disturbances in other cellular processes. While n

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Defective Solar Protection in Xeroderma Pigmentosum and Cockayne Syndrome Patients,ot discussed here, attempts to recapitulate the human genotype-phenotype relationships using transgenic mice are providing valuable insights into these disorders. It may soon be possible to determine a patient’s clinical prognosis by analyzing the site of the mutation in the affected gene.

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tational inactivation of a single gene leads to complex phen.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. .978-1-4899-9899-6978-0-387-36802-3