期刊
DNA REPAIR
卷 7, 期 7, 页码 1180-1189出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.dnarep.2007.12.006
关键词
neurodegeneration; demyelination; endogenous damage
资金
- NCI NIH HHS [P20 CA103730-01, R03 CA121411, CA103730, CA121411, K22 CA111525, P20 CA103730, K22 CA111525-03, R03 CA121411-02, CA111525] Funding Source: Medline
- NIEHS NIH HHS [R01 ES016114] Funding Source: Medline
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. (C) 2007 Elsevier B.V. All rights reserved.
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