Nucleotide excision repair deficient mouse models and neurological disease

Research output: Contribution to journalReview articlepeer-review

33 Scopus citations

Abstract

Nucleotide excision repair (NER) is a highly conserved mechanism to remove helix-distorting DNA base damage. A major substrate for NER is DNA damage caused by environmental genotoxins, most notably ultraviolet radiation. Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy are three human diseases caused by inherited defects in NER. The symptoms and severity of these diseases vary dramatically, ranging from profound developmental delay to cancer predisposition and accelerated aging. All three syndromes include neurological disease, indicating an important role for NER in protecting against spontaneous DNA damage as well. To study the pathophysiology caused by DNA damage, numerous mouse models of NER-deficiency were generated by knocking-out genes required for NER or knocking-in disease-causing human mutations. This review explores the utility of these mouse models to study neurological disease caused by NER-deficiency.

Original languageEnglish (US)
Pages (from-to)1180-1189
Number of pages10
JournalDNA Repair
Volume7
Issue number7
DOIs
StatePublished - Jul 1 2008
Externally publishedYes

Keywords

  • Demyelination
  • Endogenous damage
  • Neurodegeneration

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