University of Sussex
Browse

File(s) not publicly available

Diseases associated with defective responses to DNA damage.

journal contribution
posted on 2023-06-15, 14:53 authored by Mark O'DriscollMark O'Driscoll
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.

History

Publication status

  • Published

File Version

  • Published version

Journal

Cold Spring Harbor Perspectives in Biology

ISSN

1943-0264

Publisher

Cold Spring Harbor Laboratory Press

Issue

12

Volume

4

Page range

:a012773

Department affiliated with

  • Sussex Centre for Genome Damage Stability Publications

Full text available

  • No

Peer reviewed?

  • Yes

Legacy Posted Date

2013-11-08

First Compliant Deposit (FCD) Date

2013-11-08

Usage metrics

    University of Sussex (Publications)

    Categories

    No categories selected

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC