Diseases associated with defective responses to DNA damage.

O'Driscoll, Mark (2012) Diseases associated with defective responses to DNA damage. Cold Spring Harbor Perspectives in Biology, 4 (12). :a012773. ISSN 1943-0264

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Within the last decade, multiple novel congenital human disorders have been described with genetic defects in known and/or novel components of several well-known DNA repair and damage response pathways. Examples include disorders of impaired nucleotide excision repair, DNA double-strand and single-strand break repair, as well as compromised DNA damage-induced signal transduction including phosphorylation and ubiquitination. These conditions further reinforce the importance of multiple genome stability pathways for health and development in humans. Furthermore, these conditions inform our knowledge of the biology of the mechanics of genome stability and in some cases provide potential routes to help exploit these pathways therapeutically. Here, I will review a selection of these exciting findings from the perspective of the disorders themselves, describing how they were identified, how genotype informs phenotype, and how these defects contribute to our growing understanding of genome stability pathways.

Item Type: Article
Schools and Departments: School of Life Sciences > Sussex Centre for Genome Damage and Stability
Subjects: R Medicine > RB Pathology > RB127 Manifestations of disease
Depositing User: Mark O'Driscoll
Date Deposited: 08 Nov 2013 10:13
Last Modified: 02 Jul 2019 18:16
URI: http://sro.sussex.ac.uk/id/eprint/46949

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